keyword
https://read.qxmd.com/read/38831697/serpina11-related-novel-serpinopathy-a-perinatal-lethal-disorder
#1
JOURNAL ARTICLE
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Dalal, Rashna Bhandari
SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily, with unknown expression pattern and functional significance. We report a perinatal lethal phenotype in two foetuses from the same family associated with a biallelic loss of function variant in SERPINA11, and provide functional evidence to support its candidature as a Mendelian disorder. The SERPINA11 variant-associated foetal phenotype is characterised by gross and histopathological features of extracellular matrix disruption...
June 3, 2024: Clinical Genetics
https://read.qxmd.com/read/38828768/a-lifelong-smile-a-journey-that-begins-during-pregnancy
#2
JOURNAL ARTICLE
Luigi P
It has become clear that pregnant women have a high risk of developing oral diseases, both in the supporting tissues and in the teeth. This is precisely why the first meeting between the dentist and the mother-to-be should take place as early as possible, either while she is still planning her pregnancy or as soon as she becomes pregnant. During this appointment it is appropriate to examine the presence of any risk factors for the future mother's oral health such as medication intake, presence of chronic pathologies or bad habits (smoking)...
June 3, 2024: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://read.qxmd.com/read/38814968/interplay-between-vitamin-d-status-vitamin-d-receptor-gene-variants-and-preeclampsia-risk-in-ghanaian-women-a-case-control-study
#3
JOURNAL ARTICLE
Linda Ahenkorah Fondjo, Jonah Buah Mensah, Enoch Ofori Awuah, Samuel Asamoah Sakyi
BACKGROUND AND AIM: Preeclampsia (PE) is characterized by hypertension and proteinuria mostly after 20 weeks of gestation. It affects 2-8% of pregnancies worldwide, with detrimental consequences for both mother and foetus. Evidence, suggests that genetic factors, including vitamin D receptor (VDR) gene polymorphisms, could contribute to PE complexity. However, their role in the Ghanaian population remains underexplored. We assessed the interplay between Vitamin D, VDR gene variants and preeclampsia risk in Ghanaian women...
2024: PloS One
https://read.qxmd.com/read/38812661/the-placental-role-in-gestational-diabetes-mellitus-a-molecular-perspective
#4
REVIEW
María José Calvo, Heliana Parra, Raquel Santeliz, Jordan Bautista, Eliana Luzardo, Nelson Villasmil, María Sofía Martínez, Maricamen Chacín, Clímaco Cano, Ana Checa-Ros, Luis D'Marco, Valmore Bermúdez, Juan Bautista De Sanctis
During pregnancy, women undergo several metabolic changes to guarantee an adequate supply of glucose to the foetus. These metabolic modifications develop what is known as physiological insulin resistance. When this process is altered, however, gestational diabetes mellitus (GDM) occurs. GDM is a multifactorial disease, and genetic and environmental factors play a crucial role in its aetiopathogenesis. GDM has been linked to both macroscopic and molecular alterations in placental tissues that affect placental physiology...
April 2024: TouchREVIEWS in endocrinology
https://read.qxmd.com/read/38806662/diagnosis-of-tuberous-sclerosis-in-the-prenatal-period-a-retrospective-study-of-240-cases-and-review-of-the-literature
#5
JOURNAL ARTICLE
Vincent Milon, Marie-Claire Malinge, Maud Blanluet, Marine Tessarech, Clarisse Battault, Sarah Prestwich, Béatrice Vary, Pierre Gueracher, Louis Legoff, Magalie Barth, Clara Houdayer, Agnès Guichet, Audrey Rousseau, Dominique Bonneau, Vincent Procaccio, Céline Bris, Estelle Colin
Tuberous sclerosis complex (TSC) is a rare multisystemic disorder caused by a pathogenic variant in the TSC1 or TSC2 gene. A great phenotypic variability characterises TSC. The condition predisposes to the formation of hamartomas in various tissues, neurologic and neurodevelopmental disorders such as epilepsy, psychiatric disorders, as well as intellectual disability in 50%. TSC may be responsible for cardiac rhabdomyomas (CRs), cortical tubers, or subependymal nodules during foetal life. Detecting multiple CRs is associated with a very high risk of TSC, but the CR could be single and isolated...
May 28, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38791219/syncytiotrophoblast-markers-are-downregulated-in-placentas-from-idiopathic-stillbirths
#6
JOURNAL ARTICLE
Sara Vasconcelos, Ioannis Moustakas, Miguel R Branco, Susana Guimarães, Carla Caniçais, Talia van der Helm, Carla Ramalho, Cristina Joana Marques, Susana M Chuva de Sousa Lopes, Sofia Dória
The trophoblast cells are responsible for the transfer of nutrients between the mother and the foetus and play a major role in placental endocrine function by producing and releasing large amounts of hormones and growth factors. Syncytiotrophoblast cells (STB), formed by the fusion of mononuclear cytotrophoblasts (CTB), constitute the interface between the foetus and the mother and are essential for all of these functions. We performed transcriptome analysis of human placental samples from two control groups-live births (LB), and stillbirths (SB) with a clinically recognised cause-and from our study group, idiopathic stillbirths (iSB)...
May 9, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38789880/ultra-low-foetal-radiation-exposure-in-18-f-fdg-pet-ct-imaging-with-a-long-axial-field-of-view-pet-ct-system
#7
JOURNAL ARTICLE
Charlotte L C Smith, Maqsood Yaqub, Ruud H H Wellenberg, Jelijn J Knip, Ronald Boellaard, Gerben J C Zwezerijnen
PURPOSE: Long axial field-of-view (LAFOV) PET/CT systems enable PET/CT scans with reduced injected activities because of improved sensitivity. With this study, we aimed to examine the foetal radiation dose from an 18 F-FDG PET/CT scan on a LAFOV PET/CT system with reduced injected activity. METHODS: Two pregnant women were retrospectively included and received an 18 F-FDG PET/CT scan on a LAFOV PET/CT system with an intravenous bolus injection of 0.30 MBq/kg. Foetal radiation exposure from the PET was estimated using dose conversion factors from three published papers...
May 24, 2024: EJNMMI Physics
https://read.qxmd.com/read/38787175/molecular-identification-and-survey-of-trichomonad-species-in-pigs-in-shanxi-province-north-china
#8
JOURNAL ARTICLE
Zi-Rui Wang, Qing-Xin Fan, Jin-Long Wang, Shuo Zhang, Yu-Xuan Wang, Ze-Dong Zhang, Wen-Wei Gao, Xing-Quan Zhu, Qing Liu
Several trichomonad species have already been identified in pigs, and their pathogenic potential may not be ruled out. To date, however, no information is available regarding the prevalence of trichomonads in pigs in Shanxi Province, North China. In the present study, a total of 362 fecal samples collected from pigs in three representative counties (Qi, Jishan, and Shanyin) in this province were examined for Tetratrichomonas buttreyi , Tritrichomonas foetus , and Pentatrichomonas hominis using a nested polymerase chain reaction (PCR) with primers targeting the small subunit ribosomal RNA (SSU rRNA) gene...
May 7, 2024: Veterinary Sciences
https://read.qxmd.com/read/38770951/extent-of-foetal-exposure-to-maternal-elexacaftor-tezacaftor-ivacaftor-during-pregnancy
#9
JOURNAL ARTICLE
Danni Li, Martin Donnelley, David Parsons, Mark D Habgood, Elena K Schneider-Futschik
BACKGROUND AND PURPOSE: Cystic fibrosis (CF) patients are living longer and healthier due to improved treatments, e.g. cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy elexacaftor/tezacaftor/ivacaftor (ETI), with treatment possibly occurring in pregnancy. The risk of ETI to foetuses remain unknown. Thus the effect of maternally administered ETI on foetal genetic and structural development was investigated. EXPERIMENTAL APPROACH: Pregnant Sprague Dawley rats were orally treated with ETI (6...
May 21, 2024: British Journal of Pharmacology
https://read.qxmd.com/read/38770731/le-morti-in-utero-risultati-di-un-progetto-pilota-di-sorveglianza-della-mortalit%C3%A3-perinatale-in-italia-spitoss
#10
JOURNAL ARTICLE
Michele Antonio Salvatore, Silvia Salvi, Patrizia Vergani, Roberto Bellù, Carlo Dani, Federico Mecacci, Maria Rosa D'Anna, Maria Grazia Privitera, Serena Donati
OBJECTIVES: to describe the results of a pilot population-based perinatal mortality surveillance system, with regards to stillbirths; to study maternal, obstetric, and foetal characteristics, evaluating risk factors and understanding causes. DESIGN: a cross-sectional study was conducted on incident cases of stillbirths collected by the surveillance system from July 2017 to June 2019 in three Italian Regions (Lombardy, Tuscany, and Sicily). SETTING AND PARTICIPANTS: data on stillbirths, resulting from the in-hospital multidisciplinary audits, organised using the Significant Event Audit methodology, were analysed...
2024: Epidemiologia e Prevenzione
https://read.qxmd.com/read/38764057/detection-of-prrsv-1-in-tongue-fluids-under-experimental-and-field-conditions-and-comparison-of-different-sampling-material-for-prrsv-sow-herd-monitoring
#11
JOURNAL ARTICLE
Sophie Dürlinger, Heinrich Kreutzmann, Christine Unterweger, Vera Martin, Flora Hamar, Christian Knecht, Angelika Auer, Katharina Dimmel, Till Rümenapf, Alfred Griessler, Thomas Voglmayr, Roland Maurer, Alexander Oppeneder, Andrea Ladinig
BACKGROUND: Infection with porcine reproductive and respiratory syndrome virus (PRRSV) leads to significant economic losses worldwide. One of the initial measures following an outbreak is to stabilise the herd and to prevent vertical transmission of PRRSV. The objective of this study was to detect PRRSV in different sampling material, both in an experimental model and on a commercial piglet producing farm, with a focus on evaluating the suitability of tongue fluid samples. RESULTS: In the experimental model, PRRSV negative pregnant gilts were infected with PRRSV-1 AUT15-33 on gestation day 85 and necropsy of gilts and foetuses was performed three weeks later...
May 19, 2024: Porcine Health Management
https://read.qxmd.com/read/38762543/maternal-choline-supplementation-mitigates-premature-foetal-weight-gain-induced-by-an-obesogenic-diet-potentially-linked-to-increased-amniotic-fluid-leptin-levels-in-rats
#12
JOURNAL ARTICLE
Zhi Xin Yau-Qiu, Sebastià Galmés, Pedro Castillo, Catalina Picó, Andreu Palou, Ana María Rodríguez
Placental leptin may impact foetal development. Maternal overnutrition has been linked to increased plasma leptin levels and adverse effects on offspring, whereas choline, an essential nutrient for foetal development, has shown promise in mitigating some negative impacts of maternal obesity. Here, we investigate whether a maternal obesogenic diet alters foetal growth and leptin levels in the foetal stomach, amniotic fluid (AF), and placenta in late gestation and explore the potential modulating effects of maternal choline supplementation...
May 18, 2024: Scientific Reports
https://read.qxmd.com/read/38758496/anatomical-variations-and-embryological-basis-of-arch-of-aorta-and-aortic-valve
#13
JOURNAL ARTICLE
Rosemol Xaviour, Kevin K Joseph, Jose T Jacob
Variations in the arch of the aorta and aortic valves among fetal, cadaveric, and post-mortem specimens present a spectrum of anatomical configurations, posing challenges in establishing a standard norm. While some variations hold surgical significance, many bear little functional consequence but provide insights into embryological origins. The aortic arch exhibits diverse branching patterns, including common trunks and different orders, relevant for endovascular surgeries. Meanwhile, malformations in the aortic valve, affecting the aorta, may lead to ischemia and cerebral infarction, warranting understanding of coexisting arch and valve anomalies to predict complications like aortic dissection...
May 17, 2024: Anatomical Science International
https://read.qxmd.com/read/38737224/-retrospective-study-of-60-cases-of-uterine-rupture-at-the-maternity-center-of-monastir-tunisia
#14
JOURNAL ARTICLE
Imen Ben Farhat, Olfa Zoukar, Malak Medemagh, Wiem Ben Slamia, Amina Mnajja, Haifa Bergaoui, Ahmed Hajji, Mouna Gara, Dhekra Toumi, Raja Faleh
Uterine rupture is a life-threatening obstetric complication. The purpose of this study was to investigate the epidemiological features, maternal and foetal prognosis and different treatment options for uterine rupture in healthy and scarred uteri. We conducted a retrospective monocentric descriptive and analytical study of 60 cases of uterine rupture collected in the Department of Gynaecology-Obstetrics of the Center of Maternity and Neonatology, Monastir, from 2017 to 2021. Patients were classified according to the presence or absence of a uterine scar...
2024: Pan African Medical Journal
https://read.qxmd.com/read/38734850/maternal-obesity-interpregnancy-weight-changes-and-congenital-heart-defects-in-the-offspring-a-nationwide-cohort-study
#15
JOURNAL ARTICLE
Gitte Hedermann, Paula L Hedley, Kasper Gadsbøll, Ida N Thagaard, Lone Krebs, Christian M Hagen, Thorkild I A Sørensen, Michael Christiansen, Charlotte K Ekelund
OBJECTIVE: To evaluate the association between maternal BMI and congenital heart defects (CHDs) in the offspring when including live births, stillbirths, aborted and terminated pregnancies and to investigate if maternal interpregnancy weight changes between the first and second pregnancy influences the risk of foetal CHDs. METHODS: A nationwide cohort study of all singleton pregnancies in Denmark from 2008 to 2018. Data were retrieved from the Danish Foetal Medicine Database, which included both pre- and postnatal diagnoses of CHDs...
May 11, 2024: International Journal of Obesity
https://read.qxmd.com/read/38734317/prenatal-exposure-to-ethion-caused-maternal-and-foetal-toxicity-in-rats
#16
JOURNAL ARTICLE
Elizabeth Glanet Durom, V A Aneesha, Nerella Venkata Pavan Kumar, Ajmi Bin Azeez, M Karikalan, Madhu C Lingaraju, Subhashree Parida, Avinash G Telang, Thakur Uttam Singh
Ethion is a class II moderately toxic organothiophosphate pesticide. The main objective of this study was to evaluate the maternal and foetal toxicity of ethion in rats. Pregnant rats were divided into 5 groups. Group I served as control. Group II, III, IV, and V were orally administered with 0.86, 1.71, 3.43, and 6.9mg/kg of ethion respectively, from gestational day (GD) 6 to 19. Dams were sacrificed on GD 20. Maternal toxicity was assessed by body weight gain, foetal resorptions, oxidative stress, liver and kidney function tests, and histopathology...
May 9, 2024: Reproductive Toxicology
https://read.qxmd.com/read/38732104/the-role-of-regulatory-t-cells-and-their-therapeutic-potential-in-hypertensive-disease-of-pregnancy-a-literature-review
#17
REVIEW
Kyle Headen, Vaidile Jakaite, Vita Andreja Mesaric, Cristiano Scotta, Giovanna Lombardi, Kypros H Nicolaides, Panicos Shangaris
Hypertensive disorders of pregnancy (HDP), including preeclampsia (PE) and gestational hypertension (GH), are major causes of maternal and foetal morbidity and mortality. This review elucidates the role of regulatory T cells (Tregs) in the immunological aspects of HDP and explores their therapeutic potential. Tregs, which play a critical role in maintaining immune homeostasis, are crucial in pregnancy to prevent immune-mediated rejection of the foetus. The review highlights that Tregs contribute to immunological adaptation in normal pregnancy, ensuring foetal acceptance...
April 30, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38728410/the-effects-of-pregnancy-related-changes-in-eating-attitudes-and-behaviours-on-nutritional-status
#18
JOURNAL ARTICLE
Şule Aktaç, Hatice İkiışık, Güleren Sabuncular, Hayrunisa İçen, Fatma Esra Güneş
BACKGROUND: During pregnancy, the requirements of essential nutrients for the mother and foetus increase. The changes in pregnant women's eating behaviours may vary according to their sociodemographic characteristics. It is important to meet these increased requirements and understand the factors influencing eating habits during pregnancy. OBJECTIVES: This study aimed to determine the effects of changes in pregnant women's eating attitudes and behaviours and their sociodemographic characteristics on their meeting status for nutrient recommendations...
May 10, 2024: Family Practice
https://read.qxmd.com/read/38727438/typology-of-parent-to-child-emotions-a-study-of-japanese-parents-of-a-foetus-up-to-a-12-year-old-child
#19
JOURNAL ARTICLE
Ayako Hada, Yukiko Ohashi, Yuriko Usui, Toshinori Kitamura
Background: Emotions are the fundamental origin of parent-child bonding, which is measurable by the Scale for Parent-to-Child Emotions (SPCE) based on the theories of basic and self-conscious emotions. Methods: This study is based on the data from a cross-sectional study that we previously reported. The data consist of fathers and mothers who had a child/children, whose eldest child's age was at the foetal stage up to 12 years old, and were recruited via the Internet (N = 4600). A series of cluster analyses using factor scores (theta[ Ө ]s) of all domains of the SPCE were conducted...
April 24, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38716624/foetus-specific-neuromusculoskeletal-modelling-with-mri-driven-vaginal-delivery-kinematics-during-the-second-stage-of-labor
#20
JOURNAL ARTICLE
Morgane Ferrandini, Tan-Nhu Nguyen, Tien-Tuan Dao
Childbirth simulations lack realism due to an oversimplification of the foetal model, particularly as most models do not allow joint motion. Foetus-specific neuromusculoskeletal (NMS) model with a detailed articulated skeleton is still not available in the literature. The present work aims at proposing the first-ever foetus-specific NMS model and then simulating the foetal descent during a vaginal delivery by using in vivo medical resonance imaging (MRI) childbirth data. Moreover, the developed model is provided open source for the community...
May 8, 2024: Computer Methods in Biomechanics and Biomedical Engineering
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