keyword
https://read.qxmd.com/read/38534344/intrauterine-growth-restriction-need-to-improve-diagnostic-accuracy-and-evidence-for-a-key-role-of-oxidative-stress-in-neonatal-and-long-term-sequelae
#1
REVIEW
Eva Nüsken, Sarah Appel, Leon Saschin, Celien Kuiper-Makris, Laura Oberholz, Charlotte Schömig, Anne Tauscher, Jörg Dötsch, Angela Kribs, Miguel A Alejandre Alcazar, Kai-Dietrich Nüsken
Intrauterine growth restriction (IUGR) and being small for gestational age (SGA) are two distinct conditions with different implications for short- and long-term child development. SGA is present if the estimated fetal or birth weight is below the tenth percentile. IUGR can be identified by additional abnormalities (pathological Doppler sonography, oligohydramnion, lack of growth in the interval, estimated weight below the third percentile) and can also be present in fetuses and neonates with weights above the tenth percentile...
March 13, 2024: Cells
https://read.qxmd.com/read/38533444/small-size-big-problems-insights-and-difficulties-in-prenatal-diagnosis-of-fetal-microcephaly
#2
REVIEW
Leila Haddad, Efrat Hadi, Zvi Leibovitz, Dorit Lev, Yoseph Shalev, Liat Gindes, Tally Lerman-Sagie
Microcephaly is a sign, not a diagnosis. Its incidence varies widely due to the differences in the definition and the population being studied. It is strongly related to neurodevelopmental disorders. Differences in definitions and measurement techniques between fetuses and newborns pose a great challenge for the diagnosis and prognostication of fetal microcephaly. A false positive diagnosis can result (in countries where it is legal) in erroneous termination of pregnancy, where a false negative diagnosis might lead to the birth of a microcephalic newborn...
2024: Frontiers in Neuroscience
https://read.qxmd.com/read/38532898/cushing-s-syndrome-during-pregnancy-two-case-reports
#3
Sumita Cholekho, Yuke Liu, Huiwen Tan
BACKGROUND: Cushing's syndrome (CS) during pregnancy is a rare endocrine disorder characterized by hypercortisolism, which is significantly associated with maternal-fetal complications. Despite its rarity, CS during pregnancy may be related to a high risk of complications for both the mother and fetus.The aim of the present case study is to update the diagnostic approach to CS during pregnancy and the therapeutic strategies for this medical condition to minimize maternal-fetal complications...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38526221/performance-of-noninvasive-prenatal-screening-for-fetal-sex-chromosome-aneuploidies-in-a-cohort-of-116-862-pregnancies
#4
JOURNAL ARTICLE
Yanfei Xu, Jianbo Lou, Yeqing Qian, Pengzhen Jin, Yangwen Qian, Jiawei Hong, Yuqing Xu, Yixuan Yin, Songjia Yi, Minyue Dong
BACKGROUND: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort. RESEARCH DESIGN AND METHODS: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA)...
March 25, 2024: Expert Review of Molecular Diagnostics
https://read.qxmd.com/read/38517166/molecular-autopsy-for-fetal-structural-anomaly-diagnostic-and-clinical-utility-of-multidisciplinary-team-approach
#5
JOURNAL ARTICLE
E Wall, E Petley, F Mone, S Doyle, L Hartles-Spencer, S K Allen, J Castleman, T Marton, D Williams
OBJECTIVES: In the West Midlands Regional Genetic Service, cases of perinatal death with a possible genetic diagnosis are evaluated by the Perinatal Pathology Genetic Multidisciplinary Team (MDT). The MDT assessed autopsy findings and considered genomic assessments. The objective of this retrospective service evaluation was to determine the clinical utility of the MDT. This is the first evaluation since the introduction of whole genome and whole exome sequencing in routine clinical care...
March 22, 2024: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/38515998/hepatic-encephalopathy-precipitated-by-preeclampsia-in-the-setting-of-cirrhosis-a-case-report
#6
Mary E Fang, Nicholas A Peoples, Alison N Goulding, Mary C Tolcher
Preeclampsia and decompensated chronic liver disease are known triggers of acute hepatic dysfunction in pregnancy, rarely including hepatic encephalopathy. Differentiating the driver of acute hepatic dysfunction in patients with concomitant preeclampsia and preexisting liver disease presents a diagnostic challenge with important management implications. A 42-year-old woman, gravida 3 para 0201, at 24 1/7 weeks of gestation presented with hepatic encephalopathy, transaminitis, and hyperbilirubinemia in the setting of cirrhosis and severe new-onset preeclampsia...
March 2024: Case Reports in Women's Health
https://read.qxmd.com/read/38513931/metabolomic-profiling-of-serum-and-tongue-coating-of-pregnant-women-with-intrahepatic-cholestasis-in-pregnancy
#7
JOURNAL ARTICLE
Feng Zhang, Fang Liu, Xiaoyi Xu, Weilan Su, Yu Rong, Fu-Ying Tian, Weimin Xiao, Yichun Wu, Kai P Law, Ping Wen
Intrahepatic cholestasis of pregnancy (ICP) is associated with an increased risk of cesarean section and adverse fetal outcomes. Currently, ICP diagnosis depends largely on serum levels of bile acids and lacks sensitivity and specificity for accurate diagnosis. Tongue diagnosis is an important diagnostic tool in traditional Chinese medicine (TCM) and is used in our clinic as complementary treatment and personalized medicine for ICP. However, the molecular basis of the manifestation of greasy white tongue coatings in ICP remains unknown...
March 19, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/38500900/medical-imaging-in-pregnancy-safety-appropriate-utilization-and-alternative-modalities-for-imaging-pregnant-patients
#8
REVIEW
Abdullah A Albakri, Mohammed M Alzahrani, Saeed H Alghamdi
This article reviews the existing literature on diagnostic and medical imaging of pregnant women, the risks and safety measures of different medical imaging modalities, and alternative modalities for imaging pregnant patients. Different medical imaging modalities such as MRI, CT scan, ultrasound, nuclear medicine, and X-ray imaging help to evaluate women with recognized or unrecognized pregnancies and identify any underlying complications among pregnant patients. Fetuses are more sensitive to radiation and the effects of medical imaging as compared to adults since they have a rapidly developing cell system...
February 2024: Curēus
https://read.qxmd.com/read/38500252/contribution-of-the-serotonergic-system-to-developmental-brain-abnormalities-in-autism-spectrum-disorder
#9
REVIEW
Jarek Wegiel, Kathryn Chadman, Eric London, Thomas Wisniewski, Jerzy Wegiel
This review highlights a key role of the serotonergic system in brain development and in distortions of normal brain development in early stages of fetal life resulting in cascades of abnormalities, including defects of neurogenesis, neuronal migration, neuronal growth, differentiation, and arborization, as well as defective neuronal circuit formation in the cortex, subcortical structures, brainstem, and cerebellum of autistic subjects. In autism, defects in regulation of neuronal growth are the most frequent and ubiquitous developmental changes associated with impaired neuron differentiation, smaller size, distorted shape, loss of spatial orientation, and distortion of cortex organization...
March 18, 2024: Autism Research: Official Journal of the International Society for Autism Research
https://read.qxmd.com/read/38497455/human-observer-sensitivity-to-temporal-noise-during-b-mode-ultrasound-scanning-characterization-and-imaging-implications
#10
JOURNAL ARTICLE
Matthew T Huber, Katelyn M Flint, Patricia J McNally, Sarah C Ellestad, Gregg E Trahey
This work measures temporal signal-to-noise ratio (SNR) thresholds that indicate when random noise during ultrasound scanning becomes imperceptible to expert human observers. Visible noise compromises image quality and can potentially lead to non-diagnostic scans. Noise can arise from both stable acoustic sources (clutter) or randomly varying electronic sources (temporal noise). Extensive engineering effort has focused on decreasing noise in both of these categories. In this work, an observer study with five practicing sonographers was performed to assess sonographer sensitivity to temporal noise in ultrasound cine clips...
March 18, 2024: Ultrasonic Imaging
https://read.qxmd.com/read/38496711/exploring-pregnant-individuals-counseling-needs-regarding-urgent-imaging-to-rule-out-pulmonary-embolism
#11
JOURNAL ARTICLE
Suzie Ouellet, Sandrine Hamel, Camille Simard, Maral Koolian, Antony Robert, Karen Wou, Stéphanie Lam, Amal Bessissow, Sarah St-Georges, Vicky Tagalakis, Alexandra de Pokomandy, Linda Snell, Ning-Zi Sun, Isabelle Malhamé
BACKGROUND: Computed tomography pulmonary angiogram and lung scintigraphy with ventilation/perfusion scan are needed to diagnose pulmonary embolism (PE) in pregnancy. Their associated ionizing radiation doses are considered safe in pregnancy. A standardized patient information tool may improve patient counseling and reduce testing hesitancy. OBJECTIVES: In this context, we sought to address 1) what patients want to know before undergoing these tests and 2) how they want the information to be provided to them...
February 2024: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38495518/accuracy-of-prenatal-and-postnatal-biomarkers-for-estimating-gestational-age-a-systematic-review-and-meta-analysis
#12
JOURNAL ARTICLE
Elizabeth Bradburn, Agustin Conde-Agudelo, Nia W Roberts, Jose Villar, Aris T Papageorghiou
BACKGROUND: Knowledge of gestational age (GA) is key in clinical management of individual obstetric patients, and critical to be able to calculate rates of preterm birth and small for GA at a population level. Currently, the gold standard for pregnancy dating is measurement of the fetal crown rump length at 11-14 weeks of gestation. However, this is not possible for women first presenting in later pregnancy, or in settings where routine ultrasound is not available. A reliable, cheap and easy to measure GA-dependent biomarker would provide an important breakthrough in estimating the age of pregnancy...
April 2024: EClinicalMedicine
https://read.qxmd.com/read/38495398/pheochromocytoma-diagnosed-during-first-trimester-of-pregnancy
#13
Victoria Beard, Maher Ghawji, Fariha Salman, Hooman Oktaei
Pheochromocytomas are rare catecholamine-secreting tumors that occur in 0.002% of pregnancies. These tumors result in high maternal and fetal morbidity and mortality unless diagnosed in early stages of development, because excess levels of catecholamines cause vasoconstriction of both maternal and uteroplacental vasculature. Paroxysmal hypertension is the most common manifestation, but its variability in presentation and similarity to other pregnancy-related conditions often make diagnosis of pheochromocytoma difficult...
March 2024: JCEM Case Rep
https://read.qxmd.com/read/38490217/diagnostic-potential-of-complementation-of-mri-to-prenatal-ultrasound-for-detecting-orofacial-clefts-in-high-risk-fetuses-a-network-meta-analysis
#14
JOURNAL ARTICLE
Jing Zhai, Shuyan You, Zhonghua Liang, Haihua Yu, Chengfeng Zhu, Lu Han
OBJECTIVE: To compare the complementation of magnetic resonance imaging (MRI) to prenatal ultrasound (US) with prenatal US alone in detecting orofacial clefts in high-risk fetuses. DESIGN: A network meta-analysis. SETTING: Literature retrieval in PubMed, EMBASE, and Cochrane library, and meta-analysis based on STATA 14.0. PATIENTS: Fetuses were at high-risk for orofacial clefts. INTERVENTIONS: Prenatal US and the complementation of MRI to prenatal US...
March 15, 2024: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/38489684/value-of-early-pregnancy-ultrasound-combined-with-ultrasound-score-in-the-evaluation-of-placenta-accreta-in-scar-uterus-a-retrospective-cohort-study
#15
JOURNAL ARTICLE
Cuigai Wang, Zhiyuan Wang
The objective of this study is to investigate the value of early pregnancy ultrasound combined with ultrasound score (USS) for the evaluation of placenta accreta (PA) in scar uteri. Thirty cases of PA in scar uteri diagnosed by ultrasound at our hospital between June 2021 and June 2022 were selected retrospectively (observation group). In addition, 30 patients had placenta attached to the anterior wall of the uterus and covered the internal orifice of the cervix; however, no PA was selected in the same period (control group)...
March 15, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38486024/prenatal-genome-wide-sequencing-analysis-exome-or-genome-in-detecting-pathogenic-single-nucleotide-variants-in-fetal-central-nervous-system-anomalies-systematic-review-and-meta-analysis
#16
REVIEW
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates in different fetal anomalies are still under investigation. The aim of this study was to assess the incremental diagnostic yield in prenatally diagnosed Central Nervous System (CNS) anomalies. A systematic review on antenatal CNS anomalies was performed according to PRISMA guidelines, including n = 12 paper, accounting for 428 fetuses...
March 15, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38485541/sex-differences-in-obstructive-sleep-apnea-including-pregnancy-and-response-to-treatment
#17
REVIEW
Taylor S Erickson, Megan L Durr
This article highlights the sex differences in obstructive sleep apnea (OSA) and sheds light on the varying presentations, diagnostic challenges, as well as treatment responses observed in men and women. The disparities in prevalence, manifestations, and therapeutic outcomes underscore the need for a nuanced approach to OSA diagnosis and management that considers sex-specific factors. Furthermore, this article highlights the importance of recognizing and treating OSA during pregnancy, as it poses unique challenges and potential risks to both maternal and fetal health...
March 13, 2024: Otolaryngologic Clinics of North America
https://read.qxmd.com/read/38482747/cell-free-dna-screening-for-single-gene-disorders
#18
JOURNAL ARTICLE
Brighton S Goodhue, Sky E Danity, Neeta Vora, Jeffrey A Kuller, Matthew R Grace
IMPORTANCE: In pregnancy, cell-free DNA (cfDNA) represents short fragments of placental DNA released into the maternal blood stream through natural cell death. Noninvasive prenatal screening with cfDNA is commonly used in pregnancy to screen for common aneuploidies. This technology continues to evolve, and laboratories now offer cfDNA screening for single-gene disorders. OBJECTIVE: This article aims to review cfDNA screening for single-gene disorders including the technology, current syndromes for which screening may be offered, limitations, and current recommendations...
March 2024: Obstetrical & Gynecological Survey
https://read.qxmd.com/read/38475689/progress-in-the-application-of-echocardiography-in-neonatal-pulmonary-hypertension
#19
REVIEW
Zehang Hu, Shumin Fan
Purpose: This review aims to overview the use of echocardiography in diagnosing neonatal pulmonary hypertension, assessing cardiac function, and understanding the significance and limitations of various parameters in clinical practice. Materials and methods: Advancements in echocardiography for diagnosing and assessing neonatal pulmonary hypertension, evaluating cardiac function, monitoring treatment effectiveness, and predicting prognosis are discussed. Results: Echocardiography is a pivotal tool for diagnosing and managing neonatal pulmonary hypertension...
December 2024: Journal of Maternal-fetal & Neonatal Medicine
https://read.qxmd.com/read/38474143/identification-of-microrna-profiles-in-fetal-spina-bifida-the-role-in-pathomechanism-and-diagnostic-significance
#20
JOURNAL ARTICLE
Angelika Buczyńska, Iwona Sidorkiewicz, Magdalena Niemira, Adam Jacek Krętowski, Piotr Węgrzyn, Przemysław Kosiński, Monika Zbucka-Krętowska
Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to determine the maternal miRNA expression profile of women carrying fetuses with SB. Therefore, six women carrying fetuses with SB and twenty women with euploid healthy fetuses were enrolled in this study. Using NanoString technology, we evaluated the expression level of 798 miRNAs in both plasma and amniotic fluid samples. A downregulation of miR-1253, miR-1290, miR-194-5p, miR-302d-3p, miR-3144-3p, miR-4536-5p, miR-548aa + miR-548t-3p, miR-548ar-5p, miR-548n, miR-590-5p, miR-612, miR-627-5p, miR-644a, and miR-122-5p, and an upregulation of miR-320e, let-7b-5p, miR-23a-3p, miR-873-3p, and miR-30d-5p were identified in maternal amniotic fluid samples in SB when compared to the control group...
March 1, 2024: International Journal of Molecular Sciences
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