keyword
https://read.qxmd.com/read/38531559/first-intrauterine-transfusion-in-rh-isoimmunised-triplet-pregnancy
#21
JOURNAL ARTICLE
Vandana Bansal, Akshaykumar Babanrao Gangurde, Amol Pawar, Forum Shah
G3P2L1, 28+4 weeks of gestation rhesus (Rh) isoimmunised pregnant women, was referred with trichorionic triamniotic triplet pregnancy with Rh antibody titres of 1:32. Nuchal translucency and anomaly scan were within normal limits with no major malformation for any of the fetuses. Obstetric colour Doppler with middle cerebral artery peak systolic volume revealed foetal anaemia in all three fetuses having velocities corresponding to around 1.5 times the median. Decision of intrauterine transfusion of blood to all three fetuses was taken...
March 25, 2024: BMJ Case Reports
https://read.qxmd.com/read/38531109/evaluating-potential-developmental-toxicity-of-perfluoroalkyl-and-polyfluoroalkyl-substances-in-xenopus-laevis-embryos-and-larvae
#22
JOURNAL ARTICLE
Sigmund J Degitz, Philip P Degoey, Jonathan T Haselman, Jennifer H Olker, Emma H Stacy, Chad Blanksma, Scott Meyer, Kali Z Mattingly, Brett Blackwell, Anne S Opseth, Michael W Hornung
As part of the US Environmental Protection Agency's perfluoroalkyl and polyfluoroalkyl substances (PFAS) Action Plan, the agency is committed to increasing our understanding of the potential ecological effects of PFAS. The objective of these studies was to examine the developmental toxicity of PFAS using the laboratory model amphibian species Xenopus laevis. We had two primary aims: (1) to understand the developmental toxicity of a structurally diverse set of PFAS compounds in developing embryos and (2) to characterize the potential impacts of perfluorooctanesulfonic acid (PFOS), perfluorohexanesulfonic acid (PFHxS), perfluorooctanoic acid (PFOA), and hexafluoropropylene oxide-dimer acid (HFPO-DA a...
March 26, 2024: Journal of Applied Toxicology: JAT
https://read.qxmd.com/read/38531082/adhesive-arachnoiditis-subarachnoid-hemorrhage-and-intradural-extramedullary-thoracic-cavernoma-illustrative-case
#23
JOURNAL ARTICLE
Agne Andriuskeviciute, Michel Gustavo Mondragón-Soto, Nicolas Penet, Juan Barges-Coll
BACKGROUND: Spinal arachnoiditis can result from various factors, including spinal subarachnoid hemorrhage (sSAH). In this paper, the authors describe a case of intradural extramedullary cavernoma with an initial presentation of subarachnoid hemorrhage leading to multilevel spinal arachnoiditis to discuss the pathophysiology and optimal treatment strategy. OBSERVATIONS: Spinal intradural extramedullary cavernoma manifesting with sSAH is a rare clinical presentation; therefore, there is no clear strategy for the management of sSAH...
March 25, 2024: J Neurosurg Case Lessons
https://read.qxmd.com/read/38530929/safe-delivery-of-electroconvulsive-therapy-in-postpartum-depression-patient-with-type-1-chiari-malformation-a-case-study
#24
JOURNAL ARTICLE
Shanthi Sarma, Ellen Quinn, Grace Branjerdporn
No abstract text is available yet for this article.
March 26, 2024: Journal of ECT
https://read.qxmd.com/read/38530412/evaluation-of-academic-performance-and-social-integration-of-children-operated-for-hydrocephalus-in-cameroon
#25
JOURNAL ARTICLE
Haman N O, Ndome Toto O, Bello Figuim, Djientcheu V P
BACKGROUND: Low intelligence quotient (IQ) and delayed psychomotor development (DPD) are formidable complications of hydrocephalus. The aim of this study was to evaluate the academic performance and social integration of children operated on for hydrocephalus in Cameroon. METHOD: The authors present a cross-sectional study with retrospective data collection from January 2010 to May 2020. All children less than 10 years of age who had undergone surgery for a ventriculo-peritoneal shunt indicated for hydrocephalus with a post-operative evolution of 7 to 10 years and who were attending school were included...
March 26, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38529886/disp1-deficiency-monoallelic-and-biallelic-variants-cause-a-spectrum-of-midline-craniofacial-malformations
#26
JOURNAL ARTICLE
Alinoë Lavillaureix, Paul Rollier, Artem Kim, Veranika Panasenkava, Marie De Tayrac, Wilfrid Carré, Hélène Guyodo, Marie Faoucher, Elisabeth Poirel, Linda Akloul, Chloe Quelin, Sandra Whalen, Jessica Bos, Marjoleine Broekema, Johanna M van Hagen, Katheryn Grand, Michelle Allen-Sharpley, Emily Magness, Scott McLean, Hülya Kayserili, Umut Altunoglu, Angie En Qi Chong, Shifeng Xue, Mederic Jeanne, Naif Almontashiri, Wisam Habhab, Clemence Vanlerberghe, Laurence Faivre, Eleonore Viora Dupont, Christophe Philippe, Hana Safraou, Fanny Laffargue, Luisa Mittendorf, Rami Abou Jamra, Siddaramappa Jagdish Patil, Ashwin Dalal, Asodu Sandeep Sarma, Boris Keren, Bruno Reversade, Christèle Dubourg, Sylvie Odent, Valérie Dupé
PURPOSE: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog (SHH), a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with DISP1 variants. METHODS: This study was based on the identification of at least one pathogenic variant of the DISP1 gene in individuals for whom detailed clinical data were available...
March 23, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38529857/musculoskeletal-and-tendinous-details-of-selected-anomalies-in-the-locomotor-system-of-anurans
#27
JOURNAL ARTICLE
Mónica C Soliz, Virginia Abdala
Previous studies on anuran anomalies predominantly examine isolated cases or focus on external and skeletal features. Our study analyzes a comprehensive sample collected from 1991 to 2017, examining the muscle-tendon system in 24 anuran species across adult, juvenile, and metamorphic stages. This extensive sample size allows us to investigate consistent anomaly patterns across different developmental stages and anuran families, exploring potential common developmental or genetic factors. Our detailed anatomical examination, encompassing musculature, tendons, and skeletal structures, revealed that 21% of the specimens displayed anomalies, a noteworthy finding considering the extensive sample size and duration of the studied sample...
March 26, 2024: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://read.qxmd.com/read/38529636/treatment-modalities-and-outcomes-in-brainstem-cavernous-malformations-a-large-multicenter-observational-cohort-study
#28
JOURNAL ARTICLE
Junlin Lu, Zongze Li, Hao Deng, Guangchao Shi, Wei Wang, Chao You, Wei Zhu, Rui Tian
BACKGROUND: Symptomatic brainstem cavernous malformations (BSCMs) pose a high risk of morbidity and mortality due to recurrent hemorrhage, warranting aggressive management. However, few studies have compared the effectiveness of different treatment modalities for BSCMs. We aimed to assess the association of treatment modalities with recurrent hemorrhage and neurological outcomes in patients with BSCM. METHODS: We conducted a retrospective cohort study using an observational registry database covering population of southwest and southeast China...
March 26, 2024: Stroke; a Journal of Cerebral Circulation
https://read.qxmd.com/read/38529480/congenital-malformations-in-the-moroccan-surveillance-system-contribution-to-prevalence-estimation
#29
JOURNAL ARTICLE
Soukaina Kannane, Samia Boussaa, Jamila El Mendili, Oulaid Touloun
BACKGROUND: Congenital malformations (CMs) are a group of structural or functional anomalies present at birth. These anomalies result in a high rate of mortality, morbidity, and disability in children. CMs are a major public health problem and place a heavy burden on healthcare systems in both developed and developing countries including Morocco, which has had a CMs surveillance system in place since 2011. The aim of this study is to determine the prevalence of CMs in Morocco. METHODS: In this study, the epidemiology of CMs in Morocco was assessed retrospectively using the national surveillance system data gathered from case notification forms from 2017 to 2021...
2024: Global Health, Epidemiology and Genomics
https://read.qxmd.com/read/38528561/transcriptome-and-open-chromatin-analysis-reveals-the-process-of-myocardial-cell-development-and-key-pathogenic-target-proteins-in-long-qt-syndrome-type-7
#30
JOURNAL ARTICLE
Peipei Chen, Junyu Long, Tianrui Hua, Zhifa Zheng, Ying Xiao, Lianfeng Chen, Kang Yu, Wei Wu, Shuyang Zhang
OBJECTIVE: Long QT syndrome type 7 (Andersen-Tawil syndrome, ATS), which is caused by KCNJ2 gene mutation, often leads to ventricular arrhythmia, periodic paralysis and skeletal malformations. The development, differentiation and electrophysiological maturation of cardiomyocytes (CMs) changes promote the pathophysiology of Long QT syndrome type 7(LQT7). We aimed to specifically reproduce the ATS disease phenotype and study the pathogenic mechanism. METHODS AND RESULTS: We established a cardiac cell model derived from human induced pluripotent stem cells (hiPSCs) to the phenotypes and electrophysiological function, and the establishment of a human myocardial cell model that specifically reproduces the symptoms of ATS provides a reliable platform for exploring the mechanism of this disease or potential drugs...
March 25, 2024: Journal of Translational Medicine
https://read.qxmd.com/read/38528322/prevalence-and-prenatal-diagnosis-of-congenital-eye-anomalies-a-population-based-study
#31
JOURNAL ARTICLE
Corentin Maillet, Lucie Guilbaud, Isabelle Monier, Babak Khoshnood, Emmanuel Bui Quoc, Anais Dugas, Nathalie Lelong, Jean-Marie Jouannic
OBJECTIVE: To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period. DESIGN: Retrospective population-based registry study. SETTING: All maternity units in Paris, France, from 2010 to 2020. POPULATION: A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy. METHODS: The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals...
March 25, 2024: BJOG: An International Journal of Obstetrics and Gynaecology
https://read.qxmd.com/read/38527993/fetal-acrania-diagnosed-at-17-weeks-of-gestation-by-2d%C3%A2-3d-ultrasound-a-case-report-and-literature-review
#32
JOURNAL ARTICLE
Bogdan Ioan Ştefănescu, Tiberiu Ioan Mihalache, Georgiana Bianca Constantin, George Ţocu, Miruna Maria Ştefănescu, Roxana Elena Bogdan Goroftei
Acrania is a fetal malformation characterized by complete or partial absence of the calvaria above the orbits and supraciliary ridge. No exact mechanism is demonstrated for this anomaly but disturbances in mesenchymal migration during the fourth week of development are the most documented. The key sonographic features of acrania are absent calvaria and dorsally bulging brain (Mickey Mouse head). Due to the normal process of ossification of cranial bones, the diagnosis can be established only after 11 weeks of gestation...
2024: Romanian Journal of Morphology and Embryology
https://read.qxmd.com/read/38526744/heterozygous-loss-of-function-variants-in-dock4-cause-neurodevelopmental-delay-and-microcephaly
#33
JOURNAL ARTICLE
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H C Horn, Anna C E Hurst, Melissa A Kelly, Michael C Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R Mark, Markus Morawski, Mathilde Nizon, Tomi Pastinen, Tilman Polster, Pascale Saugier-Veber, Jang SeSong, Heinrich Sticht, Jens T Stieler, Isabelle Thifffault, Clare L van Eyk, Pascale Marcorelles, Myriam Vezain-Mouchard, Rami Abou Jamra, Henry Oppermann
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 (DOCK4) through the activation of RAC1. Here, we clinically describe 7 individuals (6 males and one female) with variants in DOCK4 and overlapping phenotype of mild to severe global developmental delay...
March 25, 2024: Human Genetics
https://read.qxmd.com/read/38526305/bovine-aortic-arch-with-an-aberrant-left-vertebral-artery-in-a-3-year-old-boy-with-vacterl-association-a-case-report
#34
JOURNAL ARTICLE
Jesús Martínez-García, Sara F Ordorica-Sandoval, Erick Rivera-Sainz, Manuel A Beltrán-Salas, Nidia León-Sicairos, Adrian Canizalez-Roman
BACKGROUND The VACTEREL association is an acronym that includes vertebral malformations (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TE), renal defects (R), and limb malformations (L). The aortic arch is the section between the ascending aorta and the descending aorta, where some variants have been described, such as the right aortic arch and bovine aortic arch, among others. A rare presentation in the Natsis classification is the "type X" where a bovine aortic arch and anomalous origin of the left vertebral artery are present...
March 11, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38526210/ethynylestradiol-feminizes-gene-expression-partly-in-testis-developing-as-ovotestis-and-disrupts-asymmetric-m%C3%A3-llerian-duct-development-by-eliminating-asymmetric-gene-expression-in-japanese-quail-embryos
#35
JOURNAL ARTICLE
Natsuko Abe, Akari Sakiyama, Maho Suzuki, Tin-Tin Win-Shwe, Takehiro Suzuki, Takaharu Kawashima, Shinji Tsukahara
In avian embryos, xenoestrogens induce abnormalities in reproductive organs, particularly the testes and Müllerian ducts (MDs). However, the molecular mechanisms remain poorly understood. We investigated the effects of ethynylestradiol (EE2) exposure on gene expression associated with reproductive organ development in Japanese quail embryos. Reverse transcription quantitative polymerase chain reaction (RT-qPCR) analysis revealed that the left testis containing ovary-like tissues following EE2 exposure highly expressed the genes for steroidogenic enzymes (P450scc, P45017α, lyase, and 3β-HSD) and estrogen receptor-β, compared to the right testis...
March 25, 2024: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://read.qxmd.com/read/38525403/a-rare-case-of-klippel-trenaunay-syndrome-with-von-willebrand-factor-deficiency-and-multiple-accessory-spleens-a-case-report-and-brief-literature-review
#36
Vahid Falahati, Mahsa Fallahi, Mona Shahriarpour, Ali Ghasemi, Kazem Ghaffari
Klippel Trenaunay Syndrome (KTS) is an uncommon inherited syndrome identified by venous varicosities and capillary abnormalities. von Willebrand Disease is the most common inherited hemorrhage disturbance in humans, leading to insufficiency in von Willebrand Factor, which is a complex multimeric protein with two functions: it forms a bridge between the platelets and injured vascular areas and it attaches factor VIII and stabilizes it. We present a 13-year-old son with a typical clinical manifestation of KTS, including "port-wine stains" as capillary malformation, venous malformation, and hypertrophy of the left lower extremity, who also suffers from von Willebrand Disease type 3...
2024: Advanced Biomedical Research
https://read.qxmd.com/read/38525003/double-microballoon-occluded-ethanol-embolization-for-pelvic-arteriovenous-malformation-a-case-report
#37
Keigo Osuga, Naoki Yokota, Kazuhiro Yamamoto, Hiroki Matsutani, Kiyohito Yamamoto, Hiroshi Juri, Hideki Ozawa, Takahiro Katsumata
A 40-year-old man was incidentally found to have right-sided pelvic arteriovenous malformation (AVM) with an aneurysmal dominant outflow vein (DOV). The AVM had two main feeding arteries forming a cluster of fine vessels shunt to the DOV. As transvenous approach was impossible due to anatomical difficulty, transarterial ethanol embolization was performed under simultaneous double microballoon occlusion of the two feeding arteries in combination with protective coil embolization of the prostatic branches. Ethanol (13 mL) was intermittently injected from both microballoon catheters until the AV shunt was completely occluded...
March 1, 2024: Interventional radiology
https://read.qxmd.com/read/38524952/maternal-and-neonatal-risk-factors-associated-with-perinatal-depression-a-prospective-cohort-study
#38
JOURNAL ARTICLE
Bharathi Rajendran, Syed Ummar Ibrahim, Sureshkumar Ramasamy
BACKGROUND: Perinatal depression (PND) is often under-treated and under-recognized. It has a negative impact on infant development and mother-child interactions. This study aims to estimate the prevalence of PND during pregnancy and in the postpartum period and the effect of sociodemographic factors, psychosocial stressors, and obstetric and neonatal factors on PND. METHODS: 166 antenatal mothers attending tertiary center, who completed the 1st-trimester, were evaluated on baseline sociodemographic, psychosocial, obstetric, neonatal, and post neonatal factors by using a semi-structured questionnaire...
January 2024: Indian Journal of Psychological Medicine
https://read.qxmd.com/read/38524872/delayed-presenting-gastric-duplication-cyst-mimicking-a-left-adrenal-cyst-in-a-young-female-a-case-report-with-a-literature-review
#39
Rawa Bapir, Deedar Qader, Dana Gharib, Soran Tahir, Ari Abdullah, Hoshmand Asaad, Shaho Ahmed, Hemn Ali, Hiwa Abdullah, Sasan Ahmed, Fahmi Hussein Kakamad, Ismaeel Aghaways
INTRODUCTION: Gastric duplication cyst (GDC) is a rare congenital anomaly of the gastrointestinal tract. Though GDC is often misdiagnosed, misidentification as an adrenal cyst has rarely been reported. Herein, we report a case of GDC in a young female mimicking an adrenal cyst. CASE PRESENTATION: A 17-year-old female presented with chronic epigastric pain, nausea, and intermittent vomiting. Physical examinations revealed mild tenderness in the epigastric region...
2024: Case Reports in Gastroenterology
https://read.qxmd.com/read/38524860/assessing-students-knowledge-and-attitudes-regarding-the-risks-and-prevention-of-consanguineous-marriage-a-cross-sectional-online-survey
#40
JOURNAL ARTICLE
Ammar Abdulrahman Jairoun, Sabaa Saleh Al-Hemyari, Moyad Shahwan, Hidayah Karuniawati, Samer H Zyoud, Eman Abu-Gharbieh, Sa'ed H Zyoud, Mena Al-Ani, Mustafa Habeb, Maimona Jairoun
BACKGROUND: Several studies indicate a correlation between consanguinity and genetic disorders, congenital malformations, harm to reproductive health, and increased child mortality. OBJECTIVE: To assess students' knowledge and attitudes about risks and prevention of consanguineous marriage. METHODS: Demographic details of the participants and data on knowledge and attitudes concerning the risks and prevention of consanguineous marriage were obtained using an online self-administered questionnaire...
2024: Journal of Multidisciplinary Healthcare
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