1,059 results match your criteria: "Molecular and Clinical Sciences Research Institute[Affiliation]"

Is micronized vaginal progesterone effective for the prevention of preeclampsia in twin pregnancies?

Am J Obstet Gynecol

August 2024

Fetal Medicine Unit, Department of Obstetrics and Gynecology, St George's University Hospital, University of London, London, England, United Kingdom; Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University Hospital, London, United Kingdom; Twin and Multiple Pregnancy Centre for Research and Clinical Excellence, St George's University Hospital, St George's University of London, London, United Kingdom; Fetal Medicine Unit, Liverpool Women's Hospital, Liverpool, United Kingdom. Electronic address:

View Article and Find Full Text PDF

Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.

Mol Cell Endocrinol

August 2024

Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, USA.

Article Synopsis
  • Hypogonadotropic hypogonadism (HH) is a condition causing absence of puberty and infertility due to impaired hormone action, with genetic factors involved in about 40-50% of cases.
  • A study involving 158 patients used exome sequencing to investigate the frequency of pathogenic genetic variants, finding a prevalence of 19% for monogenic variants and only 1.2% for digenic variants.
  • The results suggest that the occurrence of these pathogenic variants in nHH/KS is lower than previously reported, providing a more accurate estimation by excluding variants of uncertain significance (VUS).
View Article and Find Full Text PDF

Intravenous immunoglobulin for the treatment of severe maternal alloimmunization: individual patient data meta-analysis.

Am J Obstet Gynecol

October 2024

Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom; Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.

Objective: This study aimed to investigate the outcomes associated with the administration of maternal intravenous immunoglobulin in high-risk red blood cell-alloimmunized pregnancies.

Data Sources: Medline, Embase, and Cochrane Library were systematically searched until June 2023.

Study Eligibility Criteria: This review included studies reporting on pregnancies with severe red blood cell alloimmunization, defined as either a previous fetal or neonatal death or the need for intrauterine transfusion before 24 weeks of gestation in the previous pregnancy as a result of hemolytic disease of the fetus and newborn.

View Article and Find Full Text PDF

Reply.

Ultrasound Obstet Gynecol

April 2024

Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, University of London, London, UK.

View Article and Find Full Text PDF

Purpose: Acute kidney injury (AKI) associated with COVID-19 is associated with poor prognosis. This study assessed the hitherto uninvestigated impact of COVID-19 on the progression and clinical outcomes of patients with AKI.

Methods: Data from 576 patients with AKI admitted between 13/3/20 and 13/5/20 were studied.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigated the effectiveness of Compassionate Mind Training (CMT) in improving quality of life and psychological well-being for people with Parkinson's disease (PD), particularly focusing on neuropsychiatric symptoms.
  • Over a 6-week online intervention with 24 PD patients, significant improvements were observed in quality of life and reduction of perceived stigma, along with better stress regulation as indicated by increased heart rate variability (HRV).
  • The findings suggest that CMT is a feasible approach for PD patients and that HRV could serve as a valuable physiomarker for assessing the impact of psychological interventions.
View Article and Find Full Text PDF

Introduction: We aimed to investigate the incidence, prenatal factors and outcomes of twin-to-twin transfusion (TTTS) with right ventricular outflow tract obstruction (RVOTO).

Material And Methods: A systematic search was conducted to identify relevant studies published until February 2023 in English using the databases PubMed, Scopus and Web of Science. Studies reporting on pregnancies with TTTS and RVOTO were included.

View Article and Find Full Text PDF

Biallelic variants in Plexin B2 () cause amelogenesis imperfecta, hearing loss and intellectual disability.

J Med Genet

June 2024

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.

Article Synopsis
  • Plexins are important receptors associated with semaphorin signaling, involved in essential cellular interactions during both development and adulthood, with only some variants linked to genetic diseases so far.
  • A study examined eight individuals from six families with a rare recessive condition characterized by amelogenesis imperfecta (AI), sensorineural hearing loss (SNHL), and varying levels of intellectual disability, using genetic sequencing and variant analysis.
  • The research identified pathogenic biallelic variants in the plexin B2 gene, linked to a new autosomal recessive syndrome that features AI and SNHL, along with potential additional symptoms like intellectual disability and developmental abnormalities.
View Article and Find Full Text PDF

Heart failure pharmacotherapy and cancer: pathways and pre-clinical/clinical evidence.

Eur Heart J

April 2024

Department of Pharmacology and Pharmacotherapy, Semmelweis University, H-1085 Budapest, Üllői út 26, Hungary.

Heart failure (HF) patients have a significantly higher risk of new-onset cancer and cancer-associated mortality, compared to subjects free of HF. While both the prevention and treatment of new-onset HF in patients with cancer have been investigated extensively, less is known about the prevention and treatment of new-onset cancer in patients with HF, and whether and how guideline-directed medical therapy (GDMT) for HF should be modified when cancer is diagnosed in HF patients. The purpose of this review is to elaborate and discuss the effects of pillar HF pharmacotherapies, as well as digoxin and diuretics on cancer, and to identify areas for further research and novel therapeutic strategies.

View Article and Find Full Text PDF

Background: Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread.

View Article and Find Full Text PDF

RNA as a component of scrapie fibrils.

Sci Rep

February 2024

Neuropathology, Cellular Pathology, South West London Pathology, St George's Hospital, St George's University Hospitals NHS Foundation Trust, London, UK.

Recently, electron cryo-microscopy (cryo-EM) maps of fibrils from the brains of mice and hamsters with five infectious scrapie strains have been published and deposited in the electron microscopy data bank (EMDB). As noted by the primary authors, the fibrils contain a second component other than protein. The aim of the present study was to identify the nature of this second component in the published maps using an in silico approach.

View Article and Find Full Text PDF

Maternal ethnicity and socioeconomic deprivation: influence on adverse pregnancy outcomes.

Ultrasound Obstet Gynecol

August 2024

Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, University of London, London, UK.

Objective: To evaluate the relative importance of ethnicity and socioeconomic deprivation in determining the likelihood and prevalence of placentally derived composite of adverse pregnancy outcomes (CAPO) and composite of severe adverse pregnancy outcomes (CAPO-S).

Methods: This was a single-center retrospective cohort study of data obtained in a tertiary maternity unit. Data regarding ethnicity and socioeconomic deprivation (as measured with indices of multiple deprivation) were collected for 13 165 singleton pregnancies screened routinely in the first trimester for pre-eclampsia using the Fetal Medicine Foundation combined risk-assessment algorithm.

View Article and Find Full Text PDF

Introduction: Our objective was to investigate outcomes in twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser surgery (FLS) at <18 weeks vs ≥18 weeks, and to conduct subgroup analysis of TTTS with FLS at <16 weeks vs 16-18 weeks.

Material And Methods: PubMed, Scopus and Web of Science were searched systematically from inception until May 2023. Primary outcome was survival, and secondary outcomes included preterm premature rupture of membranes (PPROM), preterm birth and gestational age (GA) at delivery.

View Article and Find Full Text PDF

Background: Despite the considerable progress made in recent years in fetal assessment, the etiology of fetal growth disturbances is not as yet well understood. In an effort to enhance our knowledge in this area, we investigated the associations of the amniotic fluid angiotensinogen of the renin-angiotensin system with fetal growth abnormalities.

Methods: We collected amniotic fluid samples from 70 pregnant women who underwent amniocentesis during their early second trimester.

View Article and Find Full Text PDF

New pharmacological agents and novel cardiovascular pharmacotherapy strategies in 2023.

Eur Heart J Cardiovasc Pharmacother

May 2024

Institute of Pharmacology, West-German Heart and Vascular Centre, University Duisburg-Essen, DE-45122 Essen, Germany.

Although cardiovascular diseases (CVDs) are the leading cause of death worldwide, their pharmacotherapy remains suboptimal. Thus, there is a clear unmet need to develop more effective and safer pharmacological strategies. In this review, we summarize the most relevant advances in cardiovascular pharmacology in 2023, including the approval of first-in-class drugs that open new avenues for the treatment of atherosclerotic CVD and heart failure (HF).

View Article and Find Full Text PDF
Article Synopsis
  • A study was conducted to explore the connection between thyroid diseases and idiopathic adult-onset dystonia (IAOD) by examining 1,518 patients from the Italian Dystonia Registry.
  • Out of these patients, 11% were diagnosed with hypothyroidism and 2.8% with hyperthyroidism, with the groups showing comparable demographics but a higher prevalence of women in thyroid-affected groups.
  • The research found no significant link between thyroid conditions and specific characteristics of dystonia, including its distribution and associated features, suggesting that thyroid diseases do not impact the course of IAOD.
View Article and Find Full Text PDF

Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described.

View Article and Find Full Text PDF

Clinical neurophysiology of functional motor disorders: IFCN Handbook Chapter.

Clin Neurophysiol Pract

January 2024

Neurosciences Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.

Functional Motor Disorders are common and disabling. Clinical diagnosis has moved from one of exclusion of other causes for symptoms to one where positive clinical features on history and examination are used to make a "rule in" diagnosis wherever possible. Clinical neurophysiological assessments have developed increasing importance in assisting with this positive diagnosis, not being used simply to demonstrate normal sensory-motor pathways, but instead to demonstrate specific abnormalities that help to positively diagnose these disorders.

View Article and Find Full Text PDF

Aims: In patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare inherited arrhythmia syndrome, arrhythmic events can be prevented by medication and lifestyle recommendations. In patients who experience breakthrough arrhythmic events, non-adherence plays an essential role. We aimed to investigate the incidence and potential reasons for non-adherence to medication and lifestyle recommendations in a large, international cohort of patients with CPVT.

View Article and Find Full Text PDF

Maternal and perinatal outcomes in twin pregnancies following assisted reproduction: a systematic review and meta-analysis involving 802 462 pregnancies.

Hum Reprod Update

May 2024

World Health Organization (WHO) Collaborating Centre for Global Women's Health, Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.

Article Synopsis
  • The study investigates the risks of complications associated with twin pregnancies conceived through Assisted Reproductive Technology (ART) compared to those conceived naturally or through non-ART methods.
  • It systematically reviews maternal and perinatal outcomes using data from 111 studies, focusing solely on twin pregnancies to avoid discrepancies from including higher order multiples like triplets.
  • Findings show that ART-conceived twins are at a significantly higher risk for issues like preterm birth, hypertensive disorders, gestational diabetes, and requiring cesarean deliveries compared to non-ART twins, with notable statistical evidence supporting these risks.
View Article and Find Full Text PDF

: During the early stages of human fetal development, the fetal skeleton system is chiefly made up of cartilage, which is gradually replaced by bone. Fetal bone development is mainly regulated by the parathyroid hormone parathormone (PTH) and PTH-related protein, with specific calprotectin playing a substantial role in cell adhesion and chemotaxis while exhibiting antimicrobial activity during the inflammatory osteogenesis process. The aim of our study was to measure the levels of PTH and calprotectin in early second trimester amniotic fluid and to carry out a comparison between the levels observed among normal full-term pregnancies (control group) and those of the groups of embryos exhibiting impaired or enhanced growth.

View Article and Find Full Text PDF

Endothelial Neuropilin-1: a multifaced signal transducer with an emerging role in inflammation and atherosclerosis beyond angiogenesis.

Biochem Soc Trans

February 2024

William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Centre of Cardiovascular Medicine and Devices, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, U.K.

Neuropilin-1 (NRP1) is a transmembrane glycoprotein expressed by several cell types including, neurons, endothelial cells (ECs), smooth muscle cells, cardiomyocytes and immune cells comprising macrophages, dendritic cells and T cell subsets. Since NRP1 discovery in 1987 as an adhesion molecule in the frog nervous system, more than 2300 publications on PubMed investigated the function of NRP1 in physiological and pathological contexts. NRP1 has been characterised as a coreceptor for class 3 semaphorins and several members of the vascular endothelial growth factor (VEGF) family.

View Article and Find Full Text PDF