keyword
https://read.qxmd.com/read/38336243/optogenetic-stimulation-of-corticostriatal-circuits-improves-behavioral-flexibility-in-mice-with-prenatal-alcohol-exposure
#21
JOURNAL ARTICLE
Valentina Licheri, Jayapriya Chandrasekaran, Johnny A Kenton, Clark W Bird, C Fernando Valenzuela, Jonathan L Brigman
Fetal alcohol spectrum disorder (FASD) is the most common preventable form of developmental and neurobehavioral disability. Animal models have demonstrated that even low to moderate prenatal alcohol exposure (PAE) is sufficient to impair behavioral flexibility in multiple domains. Previously, utilizing a moderate limited access drinking in the dark paradigm, we have shown that PAE 1) impairs touchscreen pairwise visual reversal in male adult offspring 2) leads to small but significant decreases in orbitofrontal (OFC) firing rates 3) significantly increases dorsal striatum (dS) activity and 4) aberrantly sustains OFC-dS synchrony across early reversal...
February 7, 2024: Neuropharmacology
https://read.qxmd.com/read/38327047/prenatal-delivery-of-a-therapeutic-antisense-oligonucleotide-achieves-broad-biodistribution-in-the-brain-and-ameliorates-angelman-syndrome-phenotype-in-mice
#22
JOURNAL ARTICLE
Maria T Clarke, Laura Remesal, Lea Lentz, Danielle J Tan, David Young, Slesha Thapa, Shalini Namduri, Beltran Borges, Georgia Kirn, Jasmine Valencia, Manuel E Lopez, Jan H Lu, Lawrence R Shiow, Scott Dindot, Saul Villeda, Stephan J Sanders, Tippi C MacKenzie
Angelman Syndrome, an early-onset neurodevelopmental disorder characterized by abnormal gait, intellectual disabilities, and seizures, occurs when the maternal allele of the UBE3A gene is disrupted, since the paternal allele is silenced in neurons by the UBE3A antisense (UBE3A-AS) transcript. Given the importance of early treatment, we hypothesized that prenatal delivery of an antisense oligonucleotide (ASO) would downregulate the murine Ube3a-AS, resulting in increased UBE3A protein and functional rescue. Using a mouse model with a Ube3a-YFP allele that reports on-target ASO activity, we found that in utero, intracranial injection of the ASO resulted in dose-dependent activation of paternal Ube3a, with broad biodistribution...
February 6, 2024: Molecular Therapy
https://read.qxmd.com/read/38301326/cannabidiol-reduces-intraventricular-hemorrhage-brain-damage-preserving-myelination-and-preventing-blood-brain-barrier-dysfunction-in-immature-rats
#23
JOURNAL ARTICLE
Aarón Del Pozo, María de Hoz-Rivera, Angela Romero, María Villa, María Martínez, Laura Silva, Fabiana Piscitelli, Vincenzo Di Marzo, Ana Gutiérrez-Rodríguez, William Hind, José Martínez-Orgado
Intraventricular hemorrhage (IVH) is an important cause of long-term disability in extremely preterm infants, with no current treatment. This study assessed the potential neuroprotective effects of cannabidiol (CBD) in an IVH model using immature rats. IVH was induced in 1-day-old (P1) Wistar rats by left periventricular injection of Clostridial collagenase. Some rats received CBD prenatally (10 ​mg/kg i.p. to the dam) and then 5 ​mg/kg i.p. 6, 30 and 54 ​h after IVH (IVH+CBD, n ​= ​30)...
January 31, 2024: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://read.qxmd.com/read/38293043/trajectories-in-county-level-low-birthweight-rates-and-associated-contextual-factors-in-the-united-states-2016-2021
#24
Pallavi Dwivedi, Thu T Nguyen, Xin He, Quynh C Nguyen
INTRODUCTION: Infants with low birthweight (less than 2500 grams) have greater risk of mortality, long-term neurologic disability and chronic diseases such as diabetes and cardiovascular disease as compared to infants with normal birthweight. This study examined the trajectories of low birthweight rate in the U.S. across the metropolitan and non-metropolitan counties over the time period of 2016-2021 and the associated contextual factors. METHODS: This longitudinal study utilized data on 21,759,834 singleton births across 3,108 counties...
January 16, 2024: medRxiv
https://read.qxmd.com/read/38291356/novel-compound-heterozygous-mutations-of-the-npc1-gene-associated-with-niemann-pick-disease-type-c-a-case-report-and-review-of-the-literature
#25
REVIEW
Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao, Huaipeng Huang
BACKGROUND: Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly. Herein, we identified a novel compound heterozygous mutations of the NPC1 gene in a Chinese pedigree. CASE PRESENTATION: This paper describes an 11-year-old boy with aggravated walking instability and slurring of speech who presented as Niemann-Pick Disease type C...
January 30, 2024: BMC Infectious Diseases
https://read.qxmd.com/read/38275426/fetal-alcohol-spectrum-disorders-and-inadequacy-of-care-importance-of-raising-awareness-in-clinical-practice
#26
REVIEW
Sigita Lesinskienė, Emilijus Žilinskas, Algirdas Utkus, Rūta Marčiukaitytė, Gabrielė Vasiliauskaitė, Rugilė Stankevičiūtė, Odeta Kinčinienė
Prenatal alcohol exposure is one of the major avoidable causes of developmental disruption and health abnormalities in children. Fetal alcohol spectrum disorders (FASDs), a significant consequence of prenatal alcohol exposure, have gained more attention recently. This review aims to provide a narrative approach to the scientific literature on the history, clinical presentation, diagnosis, and management of FASDs. A literature search in PubMed, ScienceDirect, and Google Scholar online databases was conducted...
December 20, 2023: Children
https://read.qxmd.com/read/38262190/developmental-sensory-and-behavioral-outcomes-among-infants-and-toddlers-with-prenatal-alcohol-exposure
#27
JOURNAL ARTICLE
Misty Pruner, Tracy Jirikowic, Carolyn Baylor, Susan J Astley Hemingway
BACKGROUND: Prenatal alcohol exposure (PAE) can disrupt children's neurodevelopment and exert lasting influences on overall child well-being and family functioning. A comprehensive exploration of developmental outcomes in infants/toddlers with PAE seen for a diagnosis on the fetal alcohol spectrum can inform early identification and intervention. AIMS: To describe the prevalence and patterns of neurodevelopment, sensory processing, and emotional and behavioral functioning in a clinical sample of infants/toddlers with PAE...
January 22, 2024: Research in Developmental Disabilities
https://read.qxmd.com/read/38222731/improvement-of-autistic-like-behaviors-in-adult-rats-prenatally-exposed-to-valproic-acid-through-early-suppression-of-orexin-receptor
#28
JOURNAL ARTICLE
Fatemeh Piri, Mahmoud Elahdadi Salmani, Hamid Sepehri
INTRODUCTION: Autism spectrum disorder (ASD) is a disabling psychiatric disease characterized by impairments in communication and social skills. The pathophysiology of autism is complex and not fully known. Considering the incidence of sleep disorders in individuals with ASD and the important role of orexin in sleep, it is possible to hypothesize that an alteration of the orexinergic system could be implicated in the pathogenesis of autism symptoms. The present study was conducted to investigate the effect of suvorexant [dual orexin receptor antagonists (DORAs)] on autism-like behavior in prenatally valproic acid (VPA)-exposed rats]...
January 2024: Annals of Medicine and Surgery
https://read.qxmd.com/read/38182822/lymphocytic-choriomeningitis-virus-injures-the-developing-brain-effects-and-mechanisms
#29
REVIEW
Daniel J Bonthius
Lymphocytic choriomeningitis virus (LCMV) is a prevalent pathogen, whose natural host and reservoir is the wild mouse. Humans can be infected when they contact the secretions of mice. Most infections of postnatal humans result in mild illness. However, the consequences can be severe when the infection occurs during pregnancy, as the virus crosses the placenta to infect the fetus. LCMV infection of the human fetus can lead to severe neuropathologic effects, including microencephaly, hydrocephalus, focal destructive lesions, and cerebellar hypoplasia...
January 5, 2024: Pediatric Research
https://read.qxmd.com/read/38166599/degraded-inferior-colliculus-responses-to-complex-sounds-in-prenatally-exposed-vpa-rats
#30
JOURNAL ARTICLE
Yuko Tamaoki, Varun Pasapula, Collin Chandler, Michael S Borland, Olayinka I Olajubutu, Liza S Tharakan, Crystal T Engineer
BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language development. Prenatal exposure to valproic acid (VPA) increases the risk for ASD and impairs both receptive and expressive language. Like individuals with ASD, rodents prenatally exposed to VPA exhibit degraded auditory cortical processing and abnormal neural activity to sounds. Disrupted neuronal morphology has been documented in earlier processing areas of the auditory pathway in VPA-exposed rodents, but there are no studies documenting early auditory pathway physiology...
January 2, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38165697/the-shame-blame-complex-of-parents-with-cognitively-disabled-children-in-italy
#31
JOURNAL ARTICLE
Alice Scavarda
This article aims to advance knowledge related to the concept of the 'shame-blame complex' by analysing the accounts and experiences of parents with cognitively disabled children. It draws on 29 interviews with parents of children with Down syndrome and shadowing sessions with one family, carried out in Italy. Results show how the feeling of shame as a consequence of being associated with a disabled child is turned into blame for bad parenting. The sources of this blaming process are twofold: firstly, neoliberalism has disseminated an intensive parenting model based on the imperative of individual responsibility and risk avoidance...
January 2, 2024: Sociology of Health & Illness
https://read.qxmd.com/read/38162715/-and-then-there-was-silence-shaping-practice-through-the-experience-of-parents-emotions
#32
JOURNAL ARTICLE
Sharon Levy
BACKGROUND: Spina bifida, the most common Neural Tube Defect occurring around 28 days following conception, is often discovered in a routine ultrasound examination. Nurses offer continuous support for families who care for children with disabilities, associated with this diagnosis. AIM: To articulate and analyse parents' recollection of the emotions they experienced when they were informed by professionals that their unborn baby may have neurological disabilities...
December 2023: Journal of Research in Nursing: JRN
https://read.qxmd.com/read/38152001/prenatal-characterization-of-novel-neurosonographic-findings-in-a-fetus-with-sotos-syndrome
#33
Eran Bornstein, Sarah Reiss, Gustavo Malinger
Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities. Prenatal diagnosis of Sotos syndrome is infrequent and sonographic findings are not well characterized as the condition is generally detected during childhood. We present a case in which routine third trimester ultrasound detected intracranial findings including ventriculomegaly, periventricular pseudocysts, and increased periventricular echogenicity...
December 27, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38143025/fetal-hepatic-calcification-in-severe-kat6a-arboleda-tham-syndrome
#34
Antonella Di Caprio, Cecilia Rossi, Emma Bertucci, Luca Bedetti, Natascia Bertoncelli, Francesca Miselli, Lucia Corso, Carolina Bondi, Lorenzo Iughetti, Alberto Berardi, Licia Lugli
Arboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease. Moreover, because of the wide and unspecific spectrum of ARTHS, identification of the syndrome during prenatal life rarely occurs...
December 22, 2023: European Journal of Medical Genetics
https://read.qxmd.com/read/38115306/prenatal-diagnosis-of-microcephaly-through-combined-mri-and-ultrasonography-analysis-of-a-case-series
#35
JOURNAL ARTICLE
Shu-Ping Pei, Hai-Lian Guan, Feng Jin
INTRODUCTION: Intrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. The prognosis of microcephaly is highly variable and depends on the underlying cause and severity. In addition, microcephaly is often associated with various comorbidities, including intellectual disability, developmental delay, and epilepsy. Ultrasonography (US) is currently the most commonly used imaging modality for detecting microcephaly in the second trimester of pregnancy...
December 15, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/38110236/a-novel-nono-nonsense-variant-in-a-fetus-with-renal-abnormalities
#36
Laia Rodriguez-Revenga, Alfons Nadal, Virginia Borobio, Maria Isabel Álvarez-Mora, Irene Madrigal, Montse Pauta, Antoni Borrell
At 16 + 6-weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbilical artery, and oligohydramnios. Trio exome sequencing analysis detected a novel pathogenic NONO variant. Postmortem examination after the termination of pregnancy confirmed the ultrasound findings and also revealed pulmonary hypoplasia, retrognathia and low-set ears...
December 18, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38105112/frequency-of-epilepsy-and-pathological-eeg-findings-in-a-norwegian-sample-of-children-with-fetal-alcohol-spectrum-disorder-impact-on-cognition-and-adaptive-functioning
#37
JOURNAL ARTICLE
Thorsten Gerstner, Oliver Henning, Gro Løhaugen, Jon Skranes
BACKGROUND: Fetal alcohol spectrum disorder (FASD) describes a combination of developmental, cognitive and behavioural disabilities that that occur in children exposed to prenatal alcohol. Higher prevalence of epilepsy and pathological electroencephalography (EEG) have been reported. Our study aimed to examine the frequency of epilepsy, pathological EEG findings and its possible implication on cognitive and adaptive functioning. METHODS: We conducted a cross-sectional study on 148 children with FASD...
December 17, 2023: Alcohol Clin Exp Res (Hoboken)
https://read.qxmd.com/read/38088624/reproductive-genetic-medicine-in-a-post-dobbs-world-will-it-make-life-harder-for-people-with-genetic-disease
#38
JOURNAL ARTICLE
Sonia M Suter, Laura Hercher
Post- Dobbs abortion restrictions impact access and choice in the context of reproductive genetic medicine, raising serious reproductive justice concerns. The consequences of these restrictions are particularly acute and far-reaching for individuals with genetic conditions and their families.
2023: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
https://read.qxmd.com/read/38088622/-harvey-and-gurvir-s-law-ontario-bill-for-quality-prenatal-information-about-down-syndrome-terminology-feasibility-and-ethical-issues
#39
JOURNAL ARTICLE
Marie-Eve Lemoine, Anne-Marie Laberge, Marie-Françoise Malo, Stéphanie Cloutier, Marie-Christine Roy, Stanislav Birko, Andréa Daigle, Vardit Ravitsky
Harvey and Gurvir's Law is a bill proposed to the Legislative Assembly of Ontario (Canada) to reduce stigma and bias associated with Down syndrome, by developing and disseminating quality information about Down syndrome in the context of prenatal testing.
2023: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
https://read.qxmd.com/read/38079348/epidemiological-and-experimental-evidence-for-radiation-induced-health-effects-in-the-progeny-after-exposure-in-utero
#40
REVIEW
Mohammed Abderrafi Benotmane, Klaus Ruediger Trott
PURPOSE: It has been known for many decades that radiation exposure of the developing embryo or fetus may cause two fundamentally different types of severe health effects: on the one hand, radiation may interfere with the normal intrauterine development, on the other hand, radiation may induce leukemia and cancer which become manifest in childhood. A large amount of epidemiological and experimental data has recently been presented which might be used to improve our understanding of underlying mechanisms and setting radiation protection standards...
December 11, 2023: International Journal of Radiation Biology
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