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JOURNAL ARTICLE
Mugurel Constantin Rusu, Mihai Lazăr, Corneliu Toader
The anterior communicating artery (AComA) normally joins the anterior cerebral arteries (ACAs) when they change their directions from horizontal to vertical. Each postcommunicating segment of the ACAs commonly sends off the callosomarginal artery (CMA) and continues as the pericallosal artery. While documenting the archived computed tomography angiogram of a 61-year-old male patient, a rare anatomic variant was found to be associated with a previously unreported one. Both ACAs had symmetrical horizontal and vertical segments, but the AComA was absent from the usual location...
June 1, 2023: Journal of Craniofacial Surgery
#22
JOURNAL ARTICLE
Christa Tabacaru, Adebayo Braimah, Beth Kline-Fath, Nehal Parikh, Stephanie Merhar
OBJECTIVE: Magnetic resonance imaging (MRI) is the standard of care for evaluation of brain injury after hypoxic-ischemic encephalopathy (HIE) in term newborns. This study utilizes diffusion tensor imaging (DTI) to (1) identify infants at highest risk of development of cerebral palsy (CP) following HIE and to (2) identify regions of the brain critical to normal fidgety general movements (GMs) at 3 to 4 months of postterm. Absence of these normal, physiological movements is highly predictive of CP...
May 11, 2023: American Journal of Perinatology
#23
Waldo Sepulveda, Francisco Sepulveda, Angela C Ranzini
INTRODUCTION: The detection of absent septi pellucidi (ASP) during obstetric ultrasound is a rare event. However, the clinical implications of this finding are significant. ASP can be associated with severe central nervous system anomalies such as holoprosencephaly, agenesis/dysgenesis of the corpus callosum, schizencephaly, severe ventriculomegaly and open neural tube defects. In such cases, the prognosis is poor. When no such anomalies are identified, isolated ASP usually carries a good prognosis...
April 4, 2023: Fetal Diagnosis and Therapy
#24
JOURNAL ARTICLE
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li
BACKGROUND: Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of the corpus callosum is underdevelopment or thinness of the corpus callosum. SMA and callosal hypoplasia are relatively rare, and there is limited information sharing the diagnosis and treatment for SMA patients with callosal hypoplasia. CASE DESCRIPTION: A boy with callosal hypoplasia, small penis, and small testes had been perceived with motor regression at 5 months...
February 18, 2023: BMC Neurology
#25
JOURNAL ARTICLE
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance...
February 9, 2023: Brain
#26
JOURNAL ARTICLE
Pieter Vancamp, Lucile Butruille, Anni Herranen, Anita Boelen, Jean-Baptiste Fini, Barbara A Demeneix, Sylvie Remaud
Neural stem cells in the murine subventricular zone (SVZ) reactivate during postnatal development to generate neurons and glia throughout adulthood. We previously demonstrated that a postnatal thyroid hormone (TH) peak orchestrates this remodelling, rendering this process vulnerable to endocrine disruption. We exposed mice to 2 or 200 µg/kg bw/day of the bisphenol A-replacement and suspected TH-disruptor bisphenol F (BPF) in the drinking water, from embryonic day 15 to postnatal day 21 (P21). In parallel, one group was exposed to the TH-synthesis blocker propylthiouracil (0...
January 21, 2023: Environment International
#27
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan
Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to treatment seizures, microcephaly and MRI findings consistent with polymicrogyria, closed-lip schizencephaly, periventricular heterotopia and a dysplastic corpus callosum. Exome sequencing identified a de novo missense variant in TUBG2 , a gene not associated with human disease...
December 29, 2022: Genes
#28
JOURNAL ARTICLE
Delia Roxana Ungureanu, Roxana Cristina Drăgușin, Răzvan Grigoraș Căpitănescu, Lucian Zorilă, Anca Maria Istrate Ofițeru, Cristian Marinaș, Ciprian Laurențiu Pătru, Alexandru Cristian Comănescu, Maria Cristina Comănescu, Ovidiu Costinel Sîrbu, Maria-Sidonia Vrabie, Lorena Anda Dijmărescu, Ioana Streață, Florin Burada, Mihai Ioana, Alice Nicoleta Drăgoescu, Dominic Gabriel Iliescu
OBJECTIVE: To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem-occipital bone ratio (BS/BSOB) and cisterna magna (CM)...
January 9, 2023: Brain Sciences
#29
JOURNAL ARTICLE
Isidro Ferrer, Pol Andrés-Benito, Margarita Carmona, José Antonio Del Rio
Heterozygous hTau mice were used for the study of tau seeding. These mice express the six human tau isoforms, with a high predominance of 3Rtau over 4Rtau. The following groups were assessed: (i) non-inoculated mice aged 9 months ( n = 4); (ii) Alzheimer's Disease (AD)-inoculated mice ( n = 4); (iii) Globular Glial Tauopathy (GGT)-inoculated mice ( n = 4); (iv) Pick's disease (PiD)-inoculated mice ( n = 4); (v) control-inoculated mice ( n = 4); and (vi) inoculated with vehicle alone ( n = 2). AD-inoculated mice showed AT8-immunoreactive neuronal pre-tangles, granular aggregates, and dots in the CA1 region of the hippocampus, dentate gyrus (DG), and hilus, and threads and dots in the ipsilateral corpus callosum...
December 14, 2022: International Journal of Molecular Sciences
#30
JOURNAL ARTICLE
Jogeshwar Mukherjee, Reisha M Ladwa, Christopher Liang, Amina U Syed
Lewy bodies (LB) play a neuropathological role in Parkinson's disease (PD). Our goal was to evaluate LB using anti-ubiquitin immunohistochemistry (UIHC) and find correlations with monoamine oxidase-A (MAO-A) using imaging agent, [18 F]FAZIN3. Human post-mortem anterior cingulate (AC) and corpus callosum (CC) from control subjects (CN), n = 6; age 81-90 LB = 0 and PD, n = 6, age 77-89, LB = III-IV were sectioned (10 μm slices). Brain slices were immunostained with anti-ubiquitin for LB (UIHC) and analyzed using QuPath for percent anti-ubiquitin per unit area (μm2 )...
December 10, 2022: Cells
#31
JOURNAL ARTICLE
Iris Verbinnen, Sara S Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A King
PP2A-related (neuro) developmental disorders are a family of genetic diseases caused by a heterozygous alteration in one of several genes encoding a subunit of type 2A protein phosphatases. Reported affected genes, so far, are PPP2R5D , encoding the PP2A regulatory B56δ subunit; PPP2R1A , encoding the scaffolding Aα subunit; and PPP2CA , encoding the catalytic Cα subunit-in that order of frequency. Patients with a pathogenic de novo mutation in one of these genes, in part, present with overlapping features, such as generalized hypotonia, intellectual and developmental delay, facial dysmorphologies, seizures, and autistic features, and, in part, with opposite features, e...
2022: Frontiers in Cell and Developmental Biology
#32
REVIEW
G Hageman, J Nihom
OBJECTIVES: Amyoplasia congenita is the most frequent type of arthrogryposis causing fetal hypokinesia, leading to congenital contractures at birth. The pathogenesis is thought to be impaired blood circulation to the fetus early in pregnancy, with hypotension and hypoxia damaging the anterior horn cells. In animal studies however a prenatal infection with a poliomyelitis-like viral agent was demonstrated. Congenital Zika virus syndrome (CZVS) has recently been described in infants with severe microcephaly, and in 10-25% of cases arthrogryposis...
November 9, 2022: European Journal of Paediatric Neurology: EJPN
#33
JOURNAL ARTICLE
Daphne H Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh-Mann, Saskia Elgün, Benjamin Bender, Marjo S van der Knaap, Nicole I Wolf, Samuel Groeschel
OBJECTIVES: Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre-symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis. This study aims to describe the characteristics of MRI WM abnormalities at diagnosis, related to clinical presentation. METHODS: We retrospectively reviewed brain MRIs of MLD patients followed in 2 centers at the time of diagnosis regarding MLD MRI score and presence of tigroid pattern...
November 5, 2022: Annals of Clinical and Translational Neurology
#34
JOURNAL ARTICLE
A Papandreou, A K S Soo, R Spaull, K Mankad, M A Kurian, S Sudhakar
BACKGROUND AND PURPOSE: β propeller protein-associated neurodegeneration (BPAN) is the most common neurodegeneration with brain iron accumulation disorder. Typical radiologic findings are T2 hypointensity in the substantia nigra and globus pallidus, as well as a T1 halolike substantia nigra hyperintense signal surrounding a hypointense central area. However, these findings are often subtle or absent on initial scans, risking diagnostic delay. In this study, we sought to investigate radiologic findings that could aid in the early diagnosis of BPAN...
November 3, 2022: AJNR. American Journal of Neuroradiology
#35
JOURNAL ARTICLE
Dragoş Ionuţ Mincă, Mugurel Constantin Rusu, Petrinel Mugurel Rădoi, Sorin Hostiuc, Corneliu Toader
(1) Background: The anterior cerebral artery (ACA) has a precommunicating A1 segment, followed by a postcommunicating A2 segment. Anatomically, after it sends off from the callosomarginal artery (CMA), it continues as the pericallosal artery (PCalA). A detailed pattern of the anatomical variations of the PCalA are needed for practical reasons. (2) Methods: There were 45 retrospectively documented Computed Tomography Angiograms of 32 males and 13 females. (3) Results: In 90 sides, eleven different types of PCalA were documented: type 1: normal origin, above the genu of the corpus callosum (CC) (51...
September 28, 2022: Medicina
#36
JOURNAL ARTICLE
Peiqing He, Qingming Wang, Xiaochun Hong, Haiming Yuan
Biallelic pathogenic variants in the TARS2 gene cause combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia, delayed psychomotor development, epilepsy, and brain anomalies. Currently, eight COXPD21 patients have been reported in the literature, and 11 pathogenic variants in TARS2 have been identified. Here, we report a 2-year-6-month-old Chinese female who presented with severe dystonia, developmental regression, absent speech, and intractable epilepsy...
October 11, 2022: American Journal of Medical Genetics. Part A
#37
REVIEW
Mayu Kubo, Kenji Kubo, Ken-Ichiro Kobayashi, Nobuhiro Komiya
BACKGROUND: Coronavirus disease 2019- (COVID-19-) associated cytotoxic lesions of the corpus callosum (CLOCCs) have been reported as a rare neurological abnormality in severe cases. Here, a case of CLOCCs in the early stages of mild COVID-19 infection during the Omicron BA.1 epidemic is reported along with a literature review. CASE REPORT: A Japanese woman with COVID-19 presented to the emergency department with altered consciousness and cerebellar symptoms a day after fever onset...
December 2022: International Journal of Infectious Diseases: IJID
#38
JOURNAL ARTICLE
Remika Mito, Donna M Parker, David F Abbott, Michael Makdissi, Mangor Pedersen, Graeme D Jackson
Sports-related concussion, a form of mild traumatic brain injury, is characterized by transient disturbances of brain function. There is increasing evidence that functional brain changes may be driven by subtle abnormalities in white matter microstructure, and diffusion MRI has been instrumental in demonstrating these white matter abnormalities in vivo . However, the reported location and direction of the observed white matter changes in mild traumatic brain injury are variable, likely attributable to the inherent limitations of the white matter models used...
2022: Brain communications
#39
Frouzandeh Mahjoubi, Samira Shabani, Sogand Khakbazpour, Aylar Khaligh Akhlaghi
Introduction: Vici syndrome (also known as immunodeficiency with cleft lip/palate, cataract, and hypopigmentation and absent corpus callosum) is considered as a progressive neurodevelopmental multisystem disorder. Till date, only 80 cases, including our patient, with this syndrome have been reported .This syndrome is characterized by agenesis of the corpus callosum, hypopigmentation of the eyes and hair, cataract, cardiomyopathy, combined immunodeficiency, hearing loss, seizures, and additional multisystem involvements which have been reported as case reports in the past...
2022: Case Reports in Genetics
#40
JOURNAL ARTICLE
Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmüller, Holger Thiele, Peter Nürnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gärtner, Reza Maroofian, Peter Huppke
TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters to assemble the RNA polymerase II preinitiation complex. So far disorders related to variants in 5 of the 13 subunits of human transcription factor II D have been described. Recently, a child with a homozygous c.781-1G>A mutation in TAF8 has been reported. Here we describe seven further patients with mutations in TAF8 and thereby confirm the TAF8 related disorder...
June 27, 2022: Brain
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