keyword
https://read.qxmd.com/read/38696583/risk-of-meningomyelocele-mediated-by-the-common-22q11-2-deletion
#1
JOURNAL ARTICLE
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K McNamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M McDonald-McGinn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson, Allison Elizabeth Ashley Koch, Hal S Meltzer, Joan Le, Kit Sing Au, Hope Northrup, Gyang Markus Bot, Valeria Capra, Richard H Finnell, Zoha Kibar, Philip J Lupo, Helio R Machado, Camila Araújo, Tony Magana, Ahmed I Marwan, Gia Melikishvili, Osvaldo M Mutchinick, Roger E Stevenson, Anna Yurrita, Maha S Zaki, Sara Mumtaz, José Ramón Medina-Bereciartu, Caroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt, Mahmoud M Noureldeen, Aida Ms Salem, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H Westley Phillips, Brian Hanak, Bülent Kara, Ayfer Sakarya Güneş, David D Gonda, Salman Kirmani, Tinatin Tkemaladze, Joseph G Gleeson
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele...
May 3, 2024: Science
https://read.qxmd.com/read/38694036/synthesis-characterization-and-biological-evaluation-of-novel-cinnamic-acid-derivatives-cinnamoyl-metronidazole-ester-and-cinnamoyl-memantine-amide
#2
JOURNAL ARTICLE
Mohammad Moatz Shollar, Joumaa Merza, Maher Darwish, Mohammad Keshe
In this study, two derivatives, namely the ester derivative cinnamoyl metronidazole and the amide derivative cinnamoyl memantine, were synthesized from cinnamic acid and respective drugs for the purpose of exploring their potential as novel and efficient antimicrobial agents in the quest of prevailing the global antimicrobial resistance challenge. The synthesis process involved two steps: first, the chlorination of cinnamic acid using thionyl chloride, and second, the esterification of metronidazole or the amidation of memantine...
May 15, 2024: Heliyon
https://read.qxmd.com/read/38691762/bulk-nanostructure-of-mixtures-of-choline-arginate-choline-lysinate-and-water
#3
JOURNAL ARTICLE
Lucas N Wong, Manuel Brunner, Silvia Imberti, Gregory G Warr, Rob Atkin
Neutron diffraction with empirical potential structure refinement was used to investigate the bulk liquid nanostructure of mixtures of choline arginate (Ch[Arg]), choline lysinate (Ch[Lys]), and water at mole ratios of 1Ch[Arg]:1Ch[Lys]:6H2 O (balanced), 1Ch[Arg]:1Ch[Lys]:20H2 O (balanced dilute), 3Ch[Arg]:1Ch[Lys]:12H2 O (Arg- rich), and 1Ch[Arg]:3Ch[Lys]:12H2 O (Lys- rich). The Arg- and Lys- anions tend not to associate due to electrostatic repulsion between charge groups and weak anion-anion attractions...
May 1, 2024: Journal of Physical Chemistry. B
https://read.qxmd.com/read/38691155/comparison-of-emotional-and-behavioral-regulation-between-metopic-and-sagittal-synostosis
#4
JOURNAL ARTICLE
Mariana N Almeida, David P Alper, Neil Parikh, Heloise De Baun, Alex Kammien, John A Persing, Michael Alperovich
PURPOSE: Children with surgically corrected nonsyndromic craniosynostosis have been previously found to have neurocognitive and behavioral difficulties. Children with metopic synostosis have been described to have more difficulties than children with sagittal synostosis. This study aims to characterize the behavioral differences between children with metopic and sagittal synostosis. METHODS: Children with metopic and sagittal synostosis were recruited at school age...
May 1, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38690718/common-anesthetic-used-in-preclinical-pet-imaging-inhibits-metabolism-of-the-pet-tracer-18-f-3f4ap
#5
JOURNAL ARTICLE
Karla Ramos-Torres, Yang Sun, Kazue Takahashi, Yu-Peng Zhou, Pedro Brugarolas
Positron emission tomography (PET) imaging studies in laboratory animals are almost always performed under isoflurane anesthesia to ensure that the subject stays still during the image acquisition. Isoflurane is effective, safe, and easy to use, and it is generally assumed to not have an impact on the imaging results. Motivated by marked differences observed in the brain uptake and metabolism of the PET tracer 3-[18 F]fluoro-4-aminopyridine [(18 F]3F4AP) between human and nonhuman primate studies, this study investigates the possible effect of isoflurane on this process...
May 1, 2024: Journal of Neurochemistry
https://read.qxmd.com/read/38689417/geospatial-and-socioeconomic-disparities-influencing-the-management-of-craniosynostosis
#6
JOURNAL ARTICLE
Caitlyn C Belza, Lucy Sheahan, Jessica Blum, Miriam Becker, Michael Oca, Kelli Lopes, Amanda A Gosman
BACKGROUND: Various social determinants of health have been described as predictors of clinical outcomes for the craniosynostosis population. However, literature lacks a granular depiction of socioeconomic factors that impact these outcomes, and little is known about the relationship between patients' proximity to the care center and management of the condition. METHODS/DESIGN: This study retrospectively evaluated patients with craniosynostosis who presented to a tertiary children's hospital between 2000 and 2019...
May 1, 2024: Annals of Plastic Surgery
https://read.qxmd.com/read/38688701/poverty-trajectories-and-child-and-mother-well-being-outcomes-in-ireland-findings-from-an-irish-prospective-cohort
#7
JOURNAL ARTICLE
David Jo Driscoll, Elizabeth Kiely, Linda M O'Keeffe, Ali S Khashan
BACKGROUND: Poverty is associated with poor outcomes, yet exposure to distinct poverty trajectories in early childhood is not well understood. OBJECTIVE: To understand the prevalence of different trajectories of household poverty and their association with mid-childhood and mother indicators of physical health and psychopathology in Ireland. METHODS: We used a nationally representative, prospective cohort (Growing Up in Ireland-Infant Cohort)...
April 30, 2024: Journal of Epidemiology and Community Health
https://read.qxmd.com/read/38687968/parents-disclosure-to-their-donor-conceived-children-in-the-last-10-years-and-factors-affecting-disclosure-a-narrative-review
#8
JOURNAL ARTICLE
Michelle A Duff, Sonja Goedeke
BACKGROUND: Disclosure of donor conception has been advocated in several jurisdictions in recent years, especially in those that practice identity-release donation. However, research on disclosure decisions has not been consolidated systematically in the last 10 years to review if parents are telling and what factors may be impacting their decisions. OBJECTIVE AND RATIONALE: Are parents disclosing to their donor-conceived children, and what factors have influenced their disclosure decisions across different contexts and family forms in the last 10 years? SEARCH METHODS: A bibliographic search of English-language, peer-reviewed journal articles published between 2012 and 2022 from seven databases was undertaken...
April 30, 2024: Human Reproduction Update
https://read.qxmd.com/read/38684717/factors-associated-with-anxiety-related-symptoms-in-children-and-adolescents-during-covid-19-in-oman-a-cross-sectional-study
#9
JOURNAL ARTICLE
Muna Al-Shekaili, Salim Al-Huseini, Yahya Al-Kalbani, Hassan Mirza, Moon Fai Chan, Walid Hassan, Fatma Al-Sulimani, Ghaniya Saif Al-Ghafri, Hanan Saif Al-Sumri, Ahmed Bait Amer, Aishwarya Ganesh, Muna Al-Saadoon, Samir Al-Adawi
Reports from different parts of the world suggest that the COVID-19 pandemic and the resultant lockdown and social distancing measures have heralded unprecedented mental health challenges among children and adolescents. To date, there is a dearth of studies emerging from the Arabian Gulf, where the majority of its population are children and adolescents. The study aims to examine the prevalence of anxiety-related symptoms and their covariates among children and adolescents in an Arabian Gulf country, Oman. This is a cross-sectional analytic study carried out over two weeks (1st to 15th of August 2020) during the COVID-19 pandemic across Oman...
April 29, 2024: Scientific Reports
https://read.qxmd.com/read/38684515/pregnancy-complications-and-childhood-mental-health-is-the-association-modified-by-sex-or-adverse-social-circumstances-findings-from-the-growing-up-in-ireland-national-infant-cohort-study
#10
JOURNAL ARTICLE
Emma Butler, Mary Clarke, Michelle Spirtos, Linda M O' Keeffe, Niamh Dooley
Specific pregnancy complications, socioeconomic position and sex have all been independently associated with child mental health outcomes, but their combined effects remain unclear. We examined whether total number of complications experienced in the pregnancy associated with mental health at 5 and 9-years, and whether this varied by sex or adverse social circumstances. Pregnancy complications were self-reported at 9-months post-natally from a list of 16 complications. Parents completed the Strengths and Difficulties Questionnaire (SDQ) when their child was 5 and 9-years...
April 29, 2024: Social Psychiatry and Psychiatric Epidemiology
https://read.qxmd.com/read/38683675/enhancement-of-acyl-coa-precursor-supply-for-increased-avermectin-b1a-production-by-engineering-meilingmycin-polyketide-synthase-and-key-primary-metabolic-pathway-genes
#11
JOURNAL ARTICLE
Mengyao Yang, Yi Hao, Gang Liu, Ying Wen
Avermectins (AVEs), a family of macrocyclic polyketides produced by Streptomyces avermitilis, have eight components, among which B1a is noted for its strong insecticidal activity. Biosynthesis of AVE "a" components requires 2-methylbutyryl-CoA (MBCoA) as starter unit, and malonyl-CoA (MalCoA) and methylmalonyl-CoA (MMCoA) as extender units. We describe here a novel strategy for increasing B1a production by enhancing acyl-CoA precursor supply. First, we engineered meilingmycin (MEI) polyketide synthase (PKS) for increasing MBCoA precursor supply...
May 2024: Microbial Biotechnology
https://read.qxmd.com/read/38683645/bond-topology-of-chain-ribbon-and-tube-silicates-part-ii-geometrical-analysis-of-infinite-1d-arrangements-of-to-4-n-tetrahedra
#12
JOURNAL ARTICLE
Maxwell Christopher Day, Frank Christopher Hawthorne, Ali Rostami
In Part I of this series, all topologically possible 1-periodic infinite graphs (chain graphs) representing chains of tetrahedra with up to 6-8 vertices (tetrahedra) per repeat unit were generated. This paper examines possible restraints on embedding these chain graphs into Euclidean space such that they are compatible with the metrics of chains of tetrahedra in observed crystal structures. Chain-silicate minerals with T = Si4+ (plus P5+ , V5+ , As5+ , Al3+ , Fe3+ , B3+ , Be2+ , Zn2+ and Mg2+ ) have a grand nearest-neighbour ⟨T-T⟩ distance of 3...
May 1, 2024: Acta Crystallographica. Section A, Foundations and Advances
https://read.qxmd.com/read/38682570/defining-criteria-for-disease-activity-states-in-systemic-juvenile-idiopathic-arthritis-based-on-the-systemic-juvenile-arthritis-disease-activity-score
#13
JOURNAL ARTICLE
Silvia Rosina, Ana I Rebollo-Gimenez, Letizia Tarantola, Angela Pistorio, Yulia Vyzhga, Yasser El Miedany, Hala M Lotfy, Hend Abu-Shady, Mervat Eissa, Naglaa S Osman, Waleed Hassan, Marwa Y Mahgoub, Nermeen A Fouad, Doaa M Mosa, Yasmin Adel, Sheren E M Mohamed, Ahmed R Radwan, Mohamed H Abu-Zaid, Samar A A Tabra, Radwa H Shalaby, Samah I Nasef, Raju Khubchandani, Archana Khan, Naziya P Maldar, Seza Ozen, Yagmur Bayindir, Motasem Alsuweiti, Raed Alzyoud, Hiba Almaaitah, Soamarat Vilaiyuk, Butsabong Lerkvaleekul, Ekaterina Alexeeva, Tatyana Dvoryakovskaya, Ivan Kriulin, Claudia Bracaglia, Manuela Pardeo, Fabrizio De Benedetti, Francesco Licciardi, Davide Montin, Francesca Robasto, Francesca Minoia, Giovanni Filocamo, Martina Rossano, Gabriele Simonini, Edoardo Marrani, Sarah Abu-Rumeleih, Mikhail M Kostik, Konstantin E Belozerov, Priyankar Pal, Jigna N Bathia, María M Katsicas, Giselle Villarreal, Achille Marino, Stefania Costi, Flavio Sztajnbok, Rodrigo M Silva, Maria C Maggio, Dalia H El-Ghoneimy, Rasha El Owaidy, Adele Civino, Federico Diomeda, Sulaiman M Al-Mayouf, Fuad Al-Sofyani, Zane Dāvidsone, Elisa Patrone, Claudia Saad-Magalhães, Alessandro Consolaro, Angelo Ravelli
OBJECTIVE: To develop and validate cutoff values in the systemic Juvenile Arthritis Disease Activity Score 10 (sJADAS10) that distinguish the states of inactive disease (ID), minimal disease activity (MiDA), moderate disease activity (MoDA), and high disease activity (HDA) in children with systemic juvenile idiopathic arthritis (sJIA), based on subjective disease state assessment by the treating pediatric rheumatologist. METHODS: The cutoffs definition cohort was composed of 400 patients enrolled at 30 pediatric rheumatology centers in 11 countries...
April 29, 2024: Arthritis & Rheumatology
https://read.qxmd.com/read/38679905/anxiety-among-youth-with-food-allergy
#14
JOURNAL ARTICLE
Sally Ho, Frances Cooke, Ashley Ramos, Elizabeth L McQuaid, Hemant Sharma, Linda Jones Herbert
OBJECTIVE: Anxiety is among the major psychological concerns for children living with food allergy (FA). Yet research exploring the variables driving anxiety symptoms in FA remains sparse, and most studies still utilize homogeneous samples to assess anxiety symptoms. The current study seeks to evaluate the rates of clinically significant anxiety symptoms among a diverse sample of youth with FA and examine whether a heightened risk perception of FA outcomes and FA burden (vs. FA medical history) is associated with anxiety in youth...
April 29, 2024: Journal of Pediatric Psychology
https://read.qxmd.com/read/38679884/cluster-in-cluster-approach-for-computing-mp2-level-vibrational-infrared-spectra-of-large-molecular-clusters
#15
JOURNAL ARTICLE
Subodh S Khire, Takahito Nakajima, Shridhar R Gadre
Constructing the Hessian matrix (HM) for large molecules demands huge computational resources. Here, we report a cluster-in-cluster (CIC) procedure for efficiently evaluating HM and dipole derivatives for large molecular clusters by employing the second-order Møller-Plesset perturbation (MP2) theory. The highlight of the proposal is the separation of the estimations of Hartree-Fock (HF) and post-HF components. The parent cluster with n molecules is divided (virtually) into n subclusters centering each monomer and accommodating its near neighbors decided by a distance cutoff...
April 28, 2024: Journal of Physical Chemistry. A
https://read.qxmd.com/read/38676358/the-effect-on-perioperative-anxiety-and-emergence-delirium-of-the-child-or-parent-s-preference-for-parental-accompaniment-during-anesthesia-induction-in-children-undergoing-adenotonsillectomy-surgery
#16
JOURNAL ARTICLE
Fatih Yucedag, Arife Sezgin, Aysegul Bilge, Betul Basaran
BACKGROUND: Pediatric emergence delirium (ED) occurs in the early postoperative period and is defined as a complex psychiatric disorder. Non-pharmacological methods of treatment, such as perioperative parental presence, have been the focus of many studies, but the impact on preventing ED of which parent accompanies the child during anesthesia induction has not been identified as yet. Therefore, the aim of this study was to determine whether the selection made by children undergoing adenotonsillectomy of which parent will accompany them during anesthesia induction has the effect of reducing postoperative delirium scores and incidence compared to selections made by the parents...
April 26, 2024: Paediatric Anaesthesia
https://read.qxmd.com/read/38676312/patient-led-research-and-displacements-of-biomedical-knowledge-production-distribution-and-consumption
#17
JOURNAL ARTICLE
Dixi Louise Strand, Mari Holen
Patient and Public Involvement in Research (PPIR) has become an increasingly prevalent and integral part of biomedical research. In this paper, we focus on patient-led research, taking as our case the construction of new biomedical knowledge regarding the rare disease ADNP syndrome. Specifically, we seek to understand how concepts of experiential knowledge and lay expertise become integral to rather than separate from scientific expertise. In the case of ADNP, the parent-led research "mimes" biomedical knowledge practices in a way that, on the one hand, enhances the legitimacy of science and scientific expertise, and on the other displaces and transforms science by the fact that other knowledge agents (patients, next-of-kin) enter these practices...
April 26, 2024: Health (London)
https://read.qxmd.com/read/38673392/perceptions-and-experiences-of-inequity-for-women-of-refugee-background-having-a-baby-during-the-covid-19-pandemic-in-melbourne-australia
#18
JOURNAL ARTICLE
Fran Hearn, Stephanie J Brown, Josef Szwarc, Shadow Toke, May Alqas Alias, Maryaan Essa, Shogoufa Hydari, Ashay Baget, Elisha Riggs
Listening to What Matters is an exploratory descriptive qualitative study that aimed to (1) understand how women of refugee background in Melbourne, Australia experienced access to health information and maternity and/or early parenting care during the COVID-19 pandemic and (2) whether pandemic health directives had an impact on structural inequities for women of refugee background who received maternity and/or early parenting care during the COVID-19 pandemic. Semi-structured interviews were conducted with 41 participants including 17 women of refugee background, who identified as belonging to the Karen, Assyrian Chaldean, Iraqi, Syrian, Afghan, Sudanese, or South Sudanese communities and 24 health and social care professionals who identified as providing pregnancy or early parenting care during the pandemic in the north western suburbs of Melbourne...
April 15, 2024: International Journal of Environmental Research and Public Health
https://read.qxmd.com/read/38670987/construction-of-a-high-density-genetic-map-based-on-large-scale-marker-development-in-coix-lacryma-jobi-l-using-specific-locus-amplified-fragment-sequencing-slaf-seq
#19
JOURNAL ARTICLE
Chenglong Yang, Xiuwen Ban, Mingqiang Zhou, Yu Zhou, Kai Luo, Xiaoyu Yang, Zhifang Li, Fanzhi Liu, Qing Li, Yahong Luo, Xiang Zhou, Jing Lei, Peilin Long, Jian Wang, Jianchun Guo
Coix lacryma-jobi L. is one of the most economically and medicinally important corns. This study constructed a high-density genetic linkage map of C. lacryma-jobi based on a cross between the parents 'Qianyi No. 2' × 'Wenyi No. 2' and their F2 progeny through high-throughput sequencing and the construction of a specific-locus amplified fragment (SLAF) library. After pre-processing, 325.49 GB of raw data containing 1628 M reads were obtained. A total of 22,944 high-quality SLAFs were identified, among which 3952 SLAFs and 3646 polymorphic markers met the requirements for the construction of a genetic linkage map...
April 26, 2024: Scientific Reports
https://read.qxmd.com/read/38670574/experiences-and-impact-of-psychiatric-inpatient-admissions-far-away-from-home-a-qualitative-study-with-young-people-parents-carers-and-healthcare-professionals
#20
JOURNAL ARTICLE
James Roe, Josephine Holland, Anne-Marie Burn, Elinor Hopkin, Lorna Wild, Michelle Fisher, Saeed Nazir, Tamsin Ford, Bernadka Dubicka, Anthony James, Helena Tuomainen, Nicole Fung, Kate Horton, Adam P Wagner, Richard Morriss, Kapil Sayal
BACKGROUND: There are significant clinical, policy and societal concerns about the impact on young people (YP), from admission to psychiatric wards far from home. However, research evidence is scarce. AIMS: To investigate the impact of at-distance admissions to general adolescent units, from the perspectives of YP, parents/carers and healthcare professionals (HCPs) including service commissioners, to inform clinical practice, service development and policy. METHOD: Semistructured interviews with purposive samples of YP aged 13-17 years (n=28) and parents/carers (n=19) across five large regions in England, and a national sample of HCPs (n=51), were analysed using a framework approach...
April 25, 2024: BMJ Ment Health
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