keyword
https://read.qxmd.com/read/38798814/understanding-the-impact-of-adverse-childhood-experiences-on-non-suicidal-self-injury-in-youth-a-systematic-review
#41
REVIEW
Sadia Suhail Usmani, Meghana Mehendale, Mahnoor Yousif Shaikh, Sourav Sudan, Prathima Guntipalli, Lara Ouellette, Anem Sajid Malik, Naila Siddiqi, Namrata Walia, Kaushal Shah, Fahimeh Saeed, Domenico De Berardis, Sheikh Shoib
OBJECTIVE: Non-suicidal self-injury (NSSI), defined as a deliberate destruction of one's own body without a suicidal intent, is a global public health issue. Adverse childhood events (ACEs) have been shown to be associated with various mental illnesses; however, to date the impact of such events on NSSI in youth has not been reviewed. METHODS: We conducted a systematic review, searched 5 databases for published articles evaluating ACE and NSSI in youth less than or equal to 21 years of age...
March 2024: Alpha Psychiatry
https://read.qxmd.com/read/38798728/deep-genome-skimming-reveals-the-hybrid-origin-of-pseudosasa-gracilis-poaceae-bambusoideae
#42
JOURNAL ARTICLE
Xiang-Zhou Hu, Cen Guo, Sheng-Yuan Qin, De-Zhu Li, Zhen-Hua Guo
Pseudosasa gracilis (Poaceae: Bambusoideae) is a temperate woody bamboo species endemic to South-central China with a narrow distribution. Previous phylogenetic studies revealed an unexpected, isolated phylogenetic position of Ps. gracilis . Here we conducted phylogenomic analysis by sampling populations of Ps. gracilis and its sympatric species Ps. nanunica and Sinosasa polytricha reflecting different genomic signals, by deep genome skimming. Integrating molecular evidence from chloroplast genes and genome-wide SNPs, we deciphered the phylogenetic relationships of Ps...
May 2024: Plant Diversity
https://read.qxmd.com/read/38798698/a-novel-ntrk1-splice-site-variant-causing-congenital-insensitivity-to-pain-with-anhidrosis-in-a-chinese-family
#43
JOURNAL ARTICLE
Ling Sun, Jin Dai, Yuan Zhang, Lijun Zhou, Yaqiong Ren, Hongying Wang
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA, OMIM #256800), also known as hereditary sensory and autonomic neuropathy type Ⅳ (HSAN-IV), is a rare autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis, insensitivity to noxious stimuli, self-mutilating behavior and intellectual disability. CIPA can be caused by the variants in NTRK1 gene, which encodes a high-affinity tyrosine kinase receptor for nerve growth factor. To ascertain the hereditary cause of a patient with CIPA accompanied by the additional symptoms of mild growth retardation, prone to fracture, underdeveloped nails of fingers and toes, irregular tooth alignment, enamel hypoplasia, postoperative wound healing difficulty, hand and limb deformity, and dislocation of hip joint, whole exome sequencing was used and revealed a compound heterozygous variant in NTRK1 ...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38798637/clade-defining-mutations-in-human-h1n1-hemagglutinin-protein-from-2021-2023-have-opposing-effects-on-in-vitro-fitness-and-antigenic-drift
#44
Nicholas J Swanson, Jyothsna Girish, Madeline Yunker, Hisuan Liu, Julie Norton, Christa Han, Heba Mostafa, Katherine Fenstermacher, Richard Eric Rothman, Andrew Pekosz
Seasonal influenza viruses frequently acquire mutations that have the potential to alter both virus replication and antigenic profile. Recent seasonal H1N1 viruses have acquired mutations to their hemagglutinin (HA) protein receptor binding site (RBS) and antigenic sites, and have branched into the clades 5a.2a and 5a.2a.1. Both clades demonstrated improved in vitro fitness compared with the parental 5a.2 clade as measured through plaque formation, infectious virus production in human nasal epithelial cells, and receptor binding diversity...
May 19, 2024: bioRxiv
https://read.qxmd.com/read/38798617/newborn-screening-for-li-fraumeni-syndrome-patient-perspectives
#45
Makenna Beigh, Jennie Vagher, Rachel Codden, Luke D Maese, Sabina Cook, Amanda Gammon
Background Li-Fraumeni syndrome (LFS) is an inherited cancer predisposition syndrome with an estimated prevalence of 1 in 3,000-5,000 individuals. LFS poses a significant cancer risk throughout the lifespan, with notable cancer susceptibility in childhood. Despite being predominantly inherited, up to 20% of cases arise de novo . Surveillance protocols facilitate the reduction of mortality and morbidity through early cancer detection. While newborn screening (NBS) has proven effective in identifying newborns with rare genetic conditions, even those occurring as rarely as 1 in 185,000, its potential for detecting inherited cancer predispositions remains largely unexplored...
May 14, 2024: Research Square
https://read.qxmd.com/read/38798596/reconstructing-parent-genomes-using-siblings-and-other-relatives
#46
Ying Qiao, Ethan M Jewett, Kimberly F McManus, William A Freyman, Joanne E Curran, Sarah Williams-Blangero, John Blangero, Amy L Williams
Reconstructing the DNA of ancestors from their descendants has the potential to empower phenotypic analyses (including association and genetic nurture studies), improve pedigree reconstruction, and shed light on the ancestral population and phenotypes of ancestors. We developed HAPI-RECAP, a method that reconstructs the DNA of parents from full siblings and their relatives. This tool leverages HAPI2's output, a new phasing approach that applies to siblings (and optionally one or both parents) and reliably infers parent haplotypes but does not link the ungenotyped parents' DNA across chromosomes or between segments flanking ambiguities...
May 14, 2024: bioRxiv
https://read.qxmd.com/read/38798482/oral-exposure-to-benzalkonium-chlorides-in-male-and-female-mice-reveals-sex-dependent-alteration-of-the-gut-microbiome-and-bile-acid-profile
#47
Vanessa A Lopez, Joe L Lim, Ryan P Seguin, Joseph L Dempsey, Gabrielle Kunzman, Julia Y Cui, Libin Xu
Benzalkonium chlorides (BACs) are commonly used disinfectants in a variety of consumer and food-processing settings, and the COVID-19 pandemic has led to increased usage of BACs. The prevalence of BACs raises the concern that BAC exposure could disrupt the gastrointestinal microbiota, thus interfering with the beneficial functions of the microbes. We hypothesize that BAC exposure can alter the gut microbiome diversity and composition, which will disrupt bile acid homeostasis along the gut-liver axis. In this study, male and female mice were exposed orally to d 7 -C12- and d 7 -C16-BACs at 120 µg/g/day for one week...
May 16, 2024: bioRxiv
https://read.qxmd.com/read/38798463/courtship-song-differs-between-african-and-european-populations-of-drosophila-melanogaster-and-involves-a-strong-effect-locus
#48
Matthew J Lollar, Elizabeth Kim, David L Stern, John E Pool
The courtship song of Drosophila melanogaster has long served as excellent model system for studies of animal communication and differences in courtship song have been demonstrated among populations and between species. Here, we report that flies of African and European origin, which diverged approximately 13,000 years ago, show significant genetic differentiation in the use of slow versus fast pulse song. Using a combination of quantitative trait mapping and population genetic analysis we detected a single strong QTL underlying this trait and we identified candidate genes that may contribute to the evolution of this trait...
May 17, 2024: bioRxiv
https://read.qxmd.com/read/38798441/the-interplay-between-adhd-and-school-shift-on-educational-outcomes-in-children-and-adolescents-a-cross-sectional-and-longitudinal-analysis
#49
Ighor Miron Porto, João Villanova Amaral, João Pedro Gonçalves Pacheco, Igor Terra, Euripedes Constantino Miguel, Pedro Mario Pan, Ary Gadelha, Luis Augusto Rohde, Giovanni Abrahão Salum, Maurício Scopel Hoffmann
Many countries implement a double-shift schooling system, offering morning or afternoon shifts, driven by diverse factors. Young people with ADHD may face educational problems attending morning shifts compared to afternoon shifts. To investigate this, we used data from a Brazilian school-based cohort (n = 2.240, 6-14 years old, 45.6% female; 50.2% in the morning shift; 11.2% with ADHD). ADHD was determined by child psychiatrists using semi-structured interview. Educational outcomes were measured cross-sectionally and three years later (80% retention) and included reading and writing ability, performance in school subjects, and any negative school events (repetition, suspension, or dropout)...
May 13, 2024: Research Square
https://read.qxmd.com/read/38798406/the-triple-combination-of-remdesivir-gs-441524-molnupiravir-and-ribavirin-is-highly-efficient-in-inhibiting-coronavirus-replication-in-human-nasal-airway-epithelial-cell-cultures-and-in-a-hamster-infection-model
#50
Thuc Nguyen Dan Do, Rana Abdelnabi, Bernadett Boda, Samuel Constant, Johan Neyts, Dirk Jochmans
The use of fixed dose-combinations of antivirals with different mechanisms of action has proven a key in the successful treatment of infections with HIV and HCV. For the treatment of infections with SARS-CoV-2 and possible future epi-/pandemic coronaviruses, it will be important to explore the efficacy of combinations of different drugs, in particular to avoid resistance development, such as in patients with immunodeficiencies. As a first effort, we studied the antiviral potency of combinations of antivirals...
May 15, 2024: bioRxiv
https://read.qxmd.com/read/38798385/genetic-and-epigenetic-characterization-of-sarcoma-stem-cells-across-subtypes-identifies-ezh2-as-a-therapeutic-target
#51
Edmond O'Donnell, Maria Muñoz, Ryan Davis, R Lor Randall, Clifford Tepper, Janai Carr-Ascher
High-grade complex karyotype soft tissue sarcomas (STS) are a heterogeneous and aggressive set of cancers that share a common treatment strategy. Disease progression and failure to respond to anthracycline based chemotherapy, standard first-line treatment, is associated with poor patient outcomes. To address this, we investigated the contribution of STS cancer stem cells (STS-CSCs) to doxorubicin resistance. We identified a positive correlation between CSC abundance and doxorubicin IC 50 in resistant cell lines...
May 14, 2024: bioRxiv
https://read.qxmd.com/read/38798356/psychometrics-of-the-modified-family-centered-care-assessment-short-version-for-childhood-obesity
#52
Meg Simione, Paola Ferreira, Man Luo, Clarissa Hoover, Meghan Perkins, Lauren Fiechtner, Elsie M Taveras
Background: Incorporating principles of family-centered care into pediatric weight management interventions can improve the effectiveness and quality of treatment and reduce attrition rates. To assess the family-centeredness of interventions, reliable, valid, and easy-to-administer scales are needed. The purpose of the study was to develop a shortened version of the modified Family Centered Care Assessment (mFCCA) and assess its psychometric properties. Methods: The mFCCA, a scale to assess the family-centeredness of interventions for childhood obesity, was administered to families following the Connect for Health randomized control trial evaluating the effectiveness of a primary care-based pediatric weight management intervention...
May 15, 2024: Research Square
https://read.qxmd.com/read/38798326/neurodevelopmental-and-psychiatric-conditions-in-600-swedish-children-with-the-arfid-phenotype
#53
Manda Nyholmer, Marie-Louis Wronski, Liv Hog, Ralf Kuja-Halkola, Paul Lichtenstein, Sebastian Lundström, Henrik Larsson, Mark J Taylor, Cynthia M Bulik, Lisa Dinkler
OBJECTIVE: Avoidant restrictive food intake disorder (ARFID) is a feeding and eating disorder characterized by extremely restricted dietary variety and/or quantity resulting in serious consequences for physical health and psychosocial functioning. ARFID often co-occurs with neurodevelopmental conditions (NDCs) and psychiatric conditions, but previous data are mostly limited to small clinical samples examining a narrow range of conditions. Here, we examined NDCs and psychiatric conditions in a large, population-based group of children with ARFID...
May 16, 2024: medRxiv
https://read.qxmd.com/read/38798260/revealing-a-new-homozygous-variant-in-cyp17a1-c-908g-a-p-gly303asp-by-genotyping-a-chinese-patient-with-46-xy-17a-hydroxylase-17-20-lyase-deficiency-and-adrenal-space-occupying-lesion
#54
JOURNAL ARTICLE
Miao Wang, Xuejian Hu, Xiangyu Xu, Hui Chen, Jisu Xue
BACKGROUND: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is an autosomal recessive genetic disorder caused by a mutation of the cytochrome P450, family 17, subfamily A, polypeptide 1 ( CYP17A1 ). This study reports the case of a 22-year-old Chinese patient (46, XY) with 17OHD and a unilateral adrenal space-occupying lesion. METHODS: The patient underwent serological, radiographic, genetic, and molecular analyses including whole-genome exome sequencing through high-throughput sequencing (HTS) technology to analyze the genetic conditions of both the patient and her parents...
May 2024: Discovery Medicine
https://read.qxmd.com/read/38798177/parent-identified-gaps-in-preparation-for-the-postpartum-period-in-the-united-states-an-integrative-review
#55
REVIEW
Danielle N Nazarenko, Ariel L Daniel, Stephanie Durfee, Kafuli Agbemenu
BACKGROUND: In the United States, 35% of all pregnancy-related deaths occur between 24 h and 6 weeks after delivery, yet the first outpatient visit is not typically scheduled until 6 weeks postpartum. Thus, the ability to independently navigate this period is critical to maternal well-being and safety. However, previous research suggests that many women feel unprepared to manage the challenges they encounter during this time, and there is a current need to synthesize the existing evidence...
May 27, 2024: Birth
https://read.qxmd.com/read/38798176/-i-don-t-want-him-to-always-be-so-far-behind-parental-perceptions-of-child-independence-in-the-context-of-extreme-prematurity-a-qualitative-study
#56
JOURNAL ARTICLE
Emmi Suonpera, Katie Gallagher, Neil Marlow, Anne Lanceley
This study addresses the paucity of research on parents of extremely preterm adolescents (born <27 weeks of gestation) and their experiences within the framework of parental determinism. We conducted semi-structured interviews with twenty-two mothers and one father. Data were analysed thematically, revealing three overarching themes and eight subthemes shaping parental accounts. These themes centred on parental ambitions for their children, their perceptions of their child's abilities, and the parenting behaviours employed to support parental aspirations...
May 27, 2024: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://read.qxmd.com/read/38798078/sars-cov-2-antibodies-in-human-milk-after-mrna-and-adenovector-based-vaccination-a-systematic-review-and-meta-analysis
#57
REVIEW
Xuan Li, Yan Hu, You Lv, Nathan Obore, YiXiao Wang, Hong Yu
BACKGROUND: SARS-CoV-2 specific antibodies exist in human milk expressed by lactating parents after vaccination. In the existing research, the effects of vaccine types on human milk are inconsistent. RESEARCH AIM: This study aims to perform a systematic review and meta-analysis of the existing observational studies to compare the positive rates of SARS-CoV-2 specific antibodies in human milk according to mRNA and adenovector-based vaccination. METHODS: PubMed, Web of Science, Elsevier Science Direct and Cochrane Library databases were systematically searched for relevant articles published from December 30, 2019 to February 15, 2023...
May 26, 2024: Journal of Human Lactation
https://read.qxmd.com/read/38797961/-filling-in-the-gap-a-qualitative-case-study-about-identity-construction-of-siblings-of-youth-with-a-neurodisability
#58
JOURNAL ARTICLE
Linda Nguyen, Susan M Jack, Hanae Davis, Samantha Bellefeuille, Dana Arafeh, Briano Di Rezze, Marjolijn Ketelaar, Jan Willem Gorter
INTRODUCTION: In families of children with a neurodisability, siblings have unique experiences that can shape their identity. There is limited information about the developmental process of how siblings form their identity. This study aims to understand the identity construction of young siblings who have a sibling with a neurodisability. METHODS: As part of a patient-oriented research program, we engaged with our Sibling Youth Advisory Council in Canada. In this qualitative case study, data from semi-structured interviews augmented by photo elicitation and graphic elicitation of relational maps were analyzed using reflexive thematic analysis...
May 26, 2024: Journal of Adolescence
https://read.qxmd.com/read/38797881/value-of-assessing-1-hydroxymidazolam-in-drug-drug-interaction-studies-with-midazolam-as-a-substrate-of-cytochrome-p450-3a
#59
JOURNAL ARTICLE
Massimo Magliocca, Benjamin Berger, Vincent Lemoine, Priska Kaufmann, Jasper Dingemanse
The purpose of this overview was to perform an exploratory analysis of in-house drug-drug interaction (DDI) studies conducted with investigational drugs and oral midazolam to assess the value of measuring 1-OH-midazolam (1-OHM) in such studies. The perpetrator effect of the investigational drugs on cytochrome P450 3A (CYP3A) was assessed by analyzing both midazolam and 1-OHM in plasma and evaluating their pharmacokinetic parameters. Given the almost exclusive metabolism of the parent drug by CYP3A to the main metabolite 1-OHM, an increase in midazolam and a decrease in 1-OHM exposure in the case of CYP3A inhibition caused by a perpetrator drug would be expected...
May 26, 2024: Journal of Clinical Pharmacology
https://read.qxmd.com/read/38797825/the-burdens-attributable-to-primary-headache-disorders-in-children-and-adolescents-in-iran-estimates-from-a-schools-based-study
#60
JOURNAL ARTICLE
Mansoureh Togha, Pegah Rafiee, Faraidoon Haghdoost, Shahram Rafie, Seyed Mohammad Hasan Paknejad, Sepideh Amouian, Tayyar Şaşmaz, Derya Kale, Derya Uluduz, Timothy J Steiner
BACKGROUND: We recently found headache disorders to be highly prevalent among children (aged 6-11 years) and adolescents (aged 12-17) in Iran (gender- and age-adjusted 1-year prevalences: migraine 25.2%, tension-type headache 12.7%, undifferentiated headache [UdH] 22.1%, probable medication-overuse headache [pMOH] 1.1%, other headache on ≥ 15 days/month [H15+] 3.0%). Here we report on the headache-attributed burden, taking evidence from the same study. METHODS: In a cross-sectional survey, following the generic protocol for the global schools-based study led by the Global Campaign against Headache, we administered the child and adolescent versions of the Headache-Attributed Restriction, Disability, Social Handicap and Impaired Participation (HARDSHIP) structured questionnaire in 121 schools, purposively selected to reflect the country's diversities...
May 27, 2024: Journal of Headache and Pain
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