85,033 results match your criteria Corpus Callosum Agenesis
Braz J Psychiatr 2018 Dec 6. Epub 2018 Dec 6.
Núcleo de Apoio à Pesquisa em Neurociência Aplicada (NAPNA), USP, São Paulo, SP, Brazil.
Objective: To compare results of positron emission tomography (PET) with carbon-11-labeled Pittsburgh compound B (11C-PIB) obtained with cerebellar or global brain uptake for voxel intensity normalization, describe the cortical sites with highest tracer uptake in subjects with mild Alzheimer's disease (AD), and explore possible group differences in 11C-PIB binding to white matter.
Methods: 11C-PIB PET scans were acquired from subjects with AD (n=17) and healthy elderly controls (n=19). Voxel-based analysis was performed with statistical parametric mapping (SPM). Read More
Cytokine 2019 Jan 24;113:417-426. Epub 2018 Oct 24.
Department of Virology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. Electronic address:
Multiple sclerosis (MS) is a disease of the central nervous system (CNS) in which both neuroinflammation and neurodegeneration play critical roles in the pathogenesis of the disease. A growing body of evidence indicates that some antibiotics have anti-inflammatory and neuroprotective properties. Rifampicin, commonly used for the treatment of mycobacteria, has been shown to exert neuroprotective activities in neurodegenerative diseases. Read More
Childs Nerv Syst 2018 Dec 11. Epub 2018 Dec 11.
Department of Diagnostic Imaging, National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore.
Objective: Pial arteriovenous fistula (AVF) is an extremely rare entity due to direct arterial connection with the venous plexus without an intervening capillary network. The objective of this article is to describe a unique case of congenital pial AVF along the interhemispheric falx with complete callosal agenesis and malformation of cortical development within the bilateral anterior cerebral artery territories. We also demonstrated the distinctive feature of temporal stability of the extensive intracranial abnormalities without active intervention. Read More
Am J Med Genet A 2018 Nov;176(11):2234-2235
Obes Rev 2018 Dec 10. Epub 2018 Dec 10.
Center of Mental Health, Department of Psychiatry, Psychosomatics, and Psychotherapy, University Hospital of Würzburg, Würzburg, Germany.
Obesity is a major problem in the modern world causing a higher risk for various cerebrovascular diseases causing a profound individual and societal burden. The neurobiological foundation bears potential to understand the complex interaction of individual differences in brain structure and function and ingestive behaviour. This systematic review was performed on the current evidence of structural abnormalities in grey matter volume (GMV) in patients with obesity based on studies published until December 2017, which were selected through search in PubMed, CENTER (Cochrane Library), PsycINFO, Web of Science, and Ovid MEDLINE. Read More
Am J Phys Anthropol 2018 Dec 7. Epub 2018 Dec 7.
Department of Anthropology, University of Toronto, St. Toronto, Ontario, Canada.
Objectives: Mandibular corpus robusticity (corpus breadth/corpus height) is the most commonly utilized descriptor of the mandibular corpus in the great ape and hominin fossil records. As a consequence of its contoured shape, linear metrics used to characterize mandibular robusticity are inadequate to quantify the shape of the mandibular corpus. Here, we present an alternative to the traditional assessment of mandibular shape by analyzing the outline of the mandibular corpus in cross-section using landmarks and semilandmarks. Read More
Am J Med Genet C Semin Med Genet 2018 Dec 10. Epub 2018 Dec 10.
Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. Read More
Dev Med Child Neurol 2018 Dec 10. Epub 2018 Dec 10.
Murdoch Children's Research Institute, Melbourne, Vic., Australia.
Aim: To examine: (1) relationships between brain structure, and concurrently assessed neurological and behavioural functioning, in infants born preterm at term-equivalent age (TEA; approximately 38-44wks); and (2) whether brain structure-function relationships differ between infants born very (24-29wks) and moderate-late (32-36wks) preterm.
Method: A total of 257 infants (91 very preterm, 166 moderate-late preterm; 120 males, 137 females) had structural magnetic resonance imaging (MRI) and neurological and behavioural assessments (Prechtl's general movements assessment, Neonatal Intensive Care Unit Network Neurobehavioral Scale [NNNS] and Hammersmith Neonatal Neurological Examination [HNNE]). Two hundred and sixty-three infants (90 very preterm, 173 moderate-late preterm; 131 males, 132 females) had diffusion MRI and assessments. Read More
Brain Imaging Behav 2018 Dec 7. Epub 2018 Dec 7.
Department of Radiology, University Hospital of Cagliari, Cagliari, Italy.
This research investigated local brain connectivity changes following Carotid Endarterectomy (CEA) by connectometry. Seventeen subjects (15 males and 2 females, mean age 74.1 years), all eligible for CEA, were prospectively recruited in this exploratory study. Read More
Rom J Morphol Embryol 2018 ;59(3):985-988
Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania;
The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors present a rare case of a male infant with multiple congenital anomalies: craniofacial dysmorphism, short neck, agenesis of the corpus callosum, ventricular septal defect, bilateral broad hallux, large first interdigital space of the toes, plantar furrows, prominent calcaneus and right kidney agenesis. Read More
Med Ultrason 2018 Dec;20(4):493-497
The Second Hospital of Shandong University, Jinan, Shandong, China.
Aim: To explore the value of Omniview (OV) technology in assessing the fetus corpus callosum.
Material And Methods: For the ultrasound examination of 189 fetuses (gestational week range 19-28 weeks), two-dimensional (2D) ultrasound imaging and Omniview technology were used by two physicians (A and B). The acquisition time and the quality of images were recorded. Read More
Med Ultrason 2018 Dec;20(4):467-474
Abant Izzet Baysal Unıversity Faculty of Dentistry, Department of Dentomaxillofacial Radiology.
Aim: The aim of this study was to compare the diagnostic accuracy of intra-oral and extra-oral ultrasonographic (US) examinations performed with linear and convex probes in the detection of opaque and non-opaque foreign bodies (FBs) located in the maxillofacial area.
Materials And Methods: Thirteen different type of FBs were inserted into a sheep's head: a) on the external bone surface of mandible (between the mandibular corpus and masseter muscle), b) in the intrinsic muscular tissue (in the dorsum of the tongue) and c) in the hollow structures (into the maxillary sinus of the sheep's head). The FBs in muscle tissue were scanned intra-orally whereas FBs in bone external bone surface of mandible and in maxillary sinus were scanned both intra-orally and extra-orally. Read More
Neurol Genet 2018 Dec 7;4(6):e281. Epub 2018 Nov 7.
Objective: To provide new insights into the related clinical and imaging phenotypes and refine the phenotype-genotype correlation in syndrome.
Methods: We analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic variant and performed phenotype-genotype correlations.
Results: A total of 37 different heterozygous mutations were identified, of which 18 are novel. Read More
PLoS One 2018 11;13(12):e0208357. Epub 2018 Dec 11.
Department of Neurology, University of New Mexico, Albuquerque, New Mexico, United States of America.
Vascular cognitive impairment dementia (VCID) is a major cause of cognitive loss in the elderly. Matrix metalloproteinases (MMPs) are a family of proteases involved in remodeling the extracellular matrix in development, injury and repair. Blood-brain barrier (BBB) disruption due to inflammation mediated by MMPs is a mechanism of white matter injury. Read More
Sci Data 2018 Dec 11;5:180291. Epub 2018 Dec 11.
Methods of Plasticity Research, Department of Psychology, University of Zurich, Zurich, Switzerland.
We present the Zurich Cognitive Language Processing Corpus (ZuCo), a dataset combining electroencephalography (EEG) and eye-tracking recordings from subjects reading natural sentences. ZuCo includes high-density EEG and eye-tracking data of 12 healthy adult native English speakers, each reading natural English text for 4-6 hours. The recordings span two normal reading tasks and one task-specific reading task, resulting in a dataset that encompasses EEG and eye-tracking data of 21,629 words in 1107 sentences and 154,173 fixations. Read More
Neural Regen Res 2019 Feb;14(2):272-279
Department of Radiology, Xiamen Second Hospital, Xiamen, Fujian Province, China.
The location of an acute ischemic stroke is associated with its prognosis. The widely used Gaussian model-based parameter, apparent diffusion coefficient (ADC), cannot reveal microstructural changes in different locations or the degree of infarction. This prospective observational study was reviewed and approved by the Institutional Review Board of Xiamen Second Hospital, China (approval No. Read More
IEEE J Biomed Health Inform 2018 Dec 6. Epub 2018 Dec 6.
Our goal is data-driven discovery of features for text simplification. In this work, we investigate three types of lexical chains: exact, synonymous, and semantic. A lexical chain links semantically related words in a document. Read More
Behav Brain Res 2018 Dec 6. Epub 2018 Dec 6.
Department of Life Sciences, Texas A&M University - Corpus Christi, 6300 Ocean Drive, Unit 5800, Corpus Christi, TX, 78412, USA. Electronic address:
Although it is well documented that exposure to aversive stimuli induces modulation of neural circuits and subsequent behavioral changes, the means by which an aversive stimulus concomitantly alters behaviors of different natures (e.g., defensive and appetitive) remains unclear. Read More
J Clin Neurosci 2018 Oct 24. Epub 2018 Oct 24.
Department of Neurosurgery, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Surgery, The University of Melbourne, Parkville, Victoria, Australia.
Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder with a wide clinical spectrum. The most common brain tumor associated with TSC is the low grade subependymal giant cell astrocytoma. Reports of high grade primary brain tumors in patients with TSC are rare. Read More
Am J Obstet Gynecol 2018 Dec 7. Epub 2018 Dec 7.
Department of Respiratory Medicine, Kanazawa University Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa, Ishikawa, Japan.
BMC Med Inform Decis Mak 2018 Dec 7;18(Suppl 5):120. Epub 2018 Dec 7.
Institute of Medical Information, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100020, China.
Background: Health professionals and consumers use different terms to express medical events or concerns, which makes the communication barriers between the professionals and consumers. This may lead to bias in the diagnosis or treatment due to the misunderstanding or incomplete understanding. To solve the issue, a consumer health vocabulary was developed to map the consumer-used health terms to professional-used medical terms. Read More
BMC Med Inform Decis Mak 2018 Dec 7;18(Suppl 5):119. Epub 2018 Dec 7.
Department of Computer and Information Science, University of Delaware, Newark, DE, 19716, USA.
Background: The Gene Ontology (GO) is a resource that supplies information about gene product function using ontologies to represent biological knowledge. These ontologies cover three domains: Cellular Component (CC), Molecular Function (MF), and Biological Process (BP). GO annotation is a process which assigns gene functional information using GO terms to relevant genes in the literature. Read More
Tissue Eng Part C Methods 2018 Dec 10. Epub 2018 Dec 10.
University of Cadiz, Department of Nursing and Physiotherapy , Avda. Ana de Viya, 52 , Cádiz, Cádiz, Spain , 11009 ;
In recent decades, tissue engineering (TE) has contributed to a revolution in clinical practice, becoming a cornerstone research area in current health sciences. This article presents a science mapping analysis aimed at elucidating the cognitive and social structures that underlie TE during its development from 1991 to 2016. A total of 41,588 documents retrieved from the Web of Science Core Collection formed the TE literature corpus for this analysis. Read More
Clin Linguist Phon 2018 Dec 11:1-21. Epub 2018 Dec 11.
a Department of Nordic Studies and Linguistics , University of Copenhagen , Copenhagen , Denmark.
The lexical-grammatical divide has been a widely addressed topic in aphasia. Speech parts are generally classified as either belonging to a lexical or a grammatical category based on the frequency of acquisition of new members in their paradigms (open vs. closed classes), thus neglecting heterogeneity within categories. Read More
PLoS One 2018 6;13(12):e0206053. Epub 2018 Dec 6.
Department of Gynecological Endocrinology and Fertility Disorders, University of Heidelberg, Heidelberg, Germany.
Background: Local anesthetics (LAs) are increasingly used as therapeutics due to their multiple molecular effects. They may be potential agents also in gynecology and reproductive medicine. The objective of this study was to investigate the contractility response of the perfused swine uterus to different concentrations of the LAs procaine, lidocaine, and ropivacaine. Read More
Folia Med Cracov 2018 ;58(3):89-102
Department of Pathophysiology, Jagiellonian University Medical College, Kraków, Poland.
Introduction: Uterine leiomyoma is the most widespread benign tumor affecting women of childbearing age. ere are still gaps in the understanding of its pathogenesiss. Telocytes are unique cells described in greater than 50 different locations inside the human body. Read More
Hum Reprod 2018 Dec 6. Epub 2018 Dec 6.
Graduate School of Health Sciences, Koc University, Davutpasa, Topkapi, Istanbul, Turkey.
Study Question: Are there any differences in the molecular characteristics of the luteal granulosa cells (GC) obtained from stimulated versus non-stimulated (natural) IVF cycles that may help explain the defective luteal phase in the former?
Summary Answer: Luteal GC of stimulated IVF cycles, particularly those of agonist-triggered antagonist cycles, are less viable ex vivo, express LH receptor and anti-apoptotic genes at lower levels, undergo apoptosis earlier and fail to maintain their estradiol (E2) and progesterone (P4) production in comparison to natural cycle GC.
What Is Known Already: Luteal function is defective in stimulated IVF cycles, which necessitates P4 and/or hCG administration (known as luteal phase support) in order to improve clinical pregnancy rates and prevent miscarriage. The luteal phase becomes shorter and menstruation begins earlier than a natural cycle if a pregnancy cannot be achieved, indicative of early demise of corpus luteum (premature luteolysis). Read More
Am J Physiol Gastrointest Liver Physiol 2018 Dec 6. Epub 2018 Dec 6.
Murdoch Childrens Research Institute, Australia.
Expression of the cytokine IL-11 is elevated in human Helicobacter pylori infection and progressively increases with worsening gastric pathology. Additionally, IL-11 is required for tumour development in STAT3 dependent murine models of gastric cancer (GC) and, when administered acutely, causes resolving atrophic gastritis. However, it is unclear whether locally elevated IL-11 ligand expression can, in isolation from oncogenic gp130-JAK-STAT pathway mutations, initiate GC pathogenesis. Read More
J Neurotrauma 2018 Dec 6. Epub 2018 Dec 6.
Fondazione IRCCS Istituto Neurologico "Carlo Besta", Neuroradiology department, Milano, Italy ;
In disorder of consciousness (DOC) patients, corpus callosum (CC) and subcortical white matter (SWM) integrity were showed to discriminate between diagnostic categories. The aims of the study were: 1) to clarify the link between the integrity of CC and of SWM and the clinical status in DOC patients, disentangling the role played by the different brain injuries (traumatic or hemorrhagic brain injury); 2) to investigate the relationship between the CC integrity and the brain metabolism. We assessed the diagnostic accuracy of the CC and SWM integrity, using diffusion tensor imaging (DTI) and structural magnetic resonance imaging (sMRI), in a sample of DOC individuals, well-balanced for diagnosis and etiology. Read More
Hum Mutat 2018 Dec 6. Epub 2018 Dec 6.
Genome Research Division, Human Genetics department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Next-generation sequencing has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome and whole genome sequencing in 4 independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter and thinning of the corpus callosum, we identified 4 previously unreported homozygous truncating PPP1R21 alleles: c. Read More
Zoolog Sci 2018 Dec;35(6):553-563
4 Biology Institute, State University of Campinas. Monteiro Lobato st., 255 - Cidade Universitária, Campinas, São Paulo 13083-862, Brazil.
The follicular development and reproductive characteristics of four species of oviparous lizards in the Tropidurus torquatus group were anatomically and histologically evaluated. We measured specimens, recorded the number of follicles and eggs, and removed the right ovary of each individual, which we processed according to histological routine and photo-documented. For all species, ovaries were divided into a cortical germinal bed, where oogonia and stage I oocytes are located, and a medullar stroma, where the remaining follicular developmental stages occur. Read More
Front Neurosci 2018 21;12:854. Epub 2018 Nov 21.
Department of Medicine, The University of British Columbia, Vancouver, BC, Canada.
Myelin water imaging can be achieved using multicomponent T relaxation analysis to quantify measurement of myelin content, termed the myelin water fraction (MWF). Therefore, myelin water imaging can be a valuable tool to better understand the underlying white matter pathology in demyelinating diseases, such as multiple sclerosis. To apply myelin water imaging in multisite studies and clinical applications, it must be acquired in a clinically feasible scan time (less than 15 min) and be reproducible across sites and scanner vendors. Read More
J Neuroinflammation 2018 Dec 5;15(1):336. Epub 2018 Dec 5.
Department of Paediatrics, Sainte-Justine Hospital Research Center, Université de Montréal, Montreal, H3T 1C5, QC, Canada.
Background: The extension of sepsis encompassing the preterm newborn's brain is often overlooked due to technical challenges in this highly vulnerable population, yet it leads to substantial long-term neurodevelopmental disabilities. In this study, we demonstrate how neonatal neuroinflammation following postnatal E. coli lipopolysaccharide (LPS) exposure in rat pups results in persistent reduction in sialylation of cerebral glycoproteins. Read More
Gastroenterology 2018 Nov 30. Epub 2018 Nov 30.
Division of Genetics, Cancer Research Institute, Kanazawa University, Kanazawa, Japan; AMED-CREST, AMED, Japan Agency for Medical Research and Development, Tokyo, Japan; WPI Nano-Life Science Institute (Nano-LSI), Kanazawa University, Kanazawa, Japan. Electronic address:
Background & Aims: Gastritis is associated with development of stomach cancer, but little is known about changes in microRNA expression patterns during gastric inflammation. Specific changes in gene expression in epithelial cells are difficult to monitor due to the heterogeneity of the tissue. We investigated epithelial cell-specific changes in microRNA expression during gastric inflammation and gastritis-associated carcinogenesis in mice. Read More
Int J Epidemiol 2018 Nov 30. Epub 2018 Nov 30.
Clinical and Population Health, Baker Heart and Diabetes Institute, Melbourne, Australia.
Background: In Australia's Northern Territory, 33% of babies are born to Indigenous mothers, who experience high rates of hyperglycemia in pregnancy. We aimed to determine the extent to which pregnancy outcomes for Indigenous Australian women are explained by relative frequencies of diabetes type [type 2 diabetes (T2DM) and gestational diabetes (GDM)].
Methods: This prospective birth cohort study examined participants recruited from a hyperglycemia in pregnancy register. Read More
Brain 2018 Nov 30. Epub 2018 Nov 30.
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
Developing and validating sensitive biomarkers for the presymptomatic stage of familial frontotemporal dementia is an important step in early diagnosis and for the design of future therapeutic trials. In the longitudinal Frontotemporal Dementia Risk Cohort, presymptomatic mutation carriers and non-carriers from families with familial frontotemporal dementia due to microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations underwent a clinical assessment and multimodal MRI at baseline, 2-, and 4-year follow-up. Of the cohort of 73 participants, eight mutation carriers (three GRN, five MAPT) developed clinical features of frontotemporal dementia ('converters'). Read More
Cell J 2019 Apr 18;21(1):1-6. Epub 2018 Nov 18.
Department of Clinical Biochemistry, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
Objective: Degeneration of dopaminergic neurons in the substantia nigra of the brain stem is the main pathological aspect of Parkinson's disease (PD). 17 β-estradiol (E2) has neuroprotective effects on substantia nigra, however, the underlined mechanism is not well-known. In this study, we evaluated the neuroprotective effects of E2 in the ovariectomized 6-hydroxydopamine- (6-OHDA) rat model of PD. Read More
Glia 2018 Dec 2. Epub 2018 Dec 2.
Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
The identification of factors that regulate myelination provides important insight into the molecular mechanisms that coordinate nervous system development and myelin regeneration after injury. In this study, we investigated the role of amyloid precursor protein (APP) and its paralogue amyloid precursor-like protein 2 (APLP2) in myelination using APP and APLP2 knockout (KO) mice. Given that BACE1 regulates myelination and myelin sheath thickness in both the peripheral and central nervous systems, we sought to determine if APP and APLP2, as alternate BACE1 substrates, also modulate myelination, and therefore provide a better understanding of the events regulating axonal myelination. Read More
Fish Physiol Biochem 2018 Dec 3. Epub 2018 Dec 3.
Department of Biotechnology, Cochin University of Science and Technology, Kochi, 682022, India.
In the catfish Heteropneustes fossilis, three vasotocin (VT) receptor subtype genes, v1a1, v1a2, and v2a, were cloned and characterized previously. In the present study, using RNA probes, we localized the distribution of the gene transcripts in the brain-pituitary-gonadal (BPG) axis. The V1a-type receptor, v1a1 and v1a2, genes showed similar and overlapping distribution in the brain. Read More
mSystems 2018 Nov-Dec;3(6). Epub 2018 Nov 20.
Universität Hohenheim, Stuttgart, Germany.
Clinical interventions in the stomach have been linked to fecal microbiota alterations, suggesting a function of the stomach in gastrointestinal (GI) homeostasis. We sought to determine the taxonomic bacterial biogeography of the upper GI tract, including different sites within the human stomach (cardia, corpus, and antrum), adjacent upstream (esophagus) and downstream (duodenum) locations, and luminal contents (aspirate), as well as whole-stomach samples from mice and gerbils. Qualitative and quantitative DNA- and RNA-based taxonomic microbiota analyses were combined to study the relationship of relative and absolute bacterial abundances and transcriptionally active bacterial microbiota components in the stomach of humans and mice. Read More
Am J Case Rep 2018 Dec 1;19:1430-1433. Epub 2018 Dec 1.
Department of Internal Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, South Korea.
BACKGROUND Idiopathic basal ganglia calcification, also known as Fahr's disease or Fahr's syndrome, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia. Here, we report a case of Fahr's syndrome with calcification of the basal ganglia due to hypoparathyroidism in a patient with seizures. CASE REPORT A 52-year-old male patient visited our clinic with seizures. Read More
Appl Environ Microbiol 2018 Nov 30. Epub 2018 Nov 30.
Dept of Life Sciences, Texas A&M University Corpus Christi, Corpus Christi, TX, USA
Globally, marine sediments are a vast repository of organic matter which is degraded through various microbial pathways, including polymer hydrolysis and monomer fermentation. The sources, abundances, and quality (i.e. Read More
Gait Posture 2018 Nov 27;68:207-212. Epub 2018 Nov 27.
Department of Kinesiology and Health, Georgia State University, Atlanta, GA, USA; Center for Movement & Rehabilitation Research, Georgia State University, Atlanta, GA, USA. Electronic address:
Background: Increasing walking speed and including bilateral external ankle load have been shown to improve aspects of the gait pattern of children with Down syndrome (DS). However, it is unknown if speed and ankle load improves the cycle-to-cycle variability in a similar way.
Research Question: How do changes of walking speed and external ankle load impact spatiotemporal variability during treadmill walking in children with and without DS?
Methods: Thirteen children with DS (aged 7-10 years) and thirteen age- and sex-matched typically developing (TD) children participated in this study. Read More
EBioMedicine 2018 Nov 29. Epub 2018 Nov 29.
The School of Biomedical Sciences, The University of Queensland, Brisbane, QLD 4072, Australia; The Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia. Electronic address:
Background: Nuclear Factor One X (NFIX) haploinsufficiency in humans results in Malan syndrome, a disorder characterized by overgrowth, macrocephaly and intellectual disability. Although clinical assessments have determined the underlying symptomology of Malan syndrome, the fundamental mechanisms contributing to the enlarged head circumference and intellectual disability in these patients remains undefined.
Methods: Here, we used Nfix heterozygous mice as a model to investigate these aspects of Malan syndrome. Read More
Neuroimage 2018 Nov 28. Epub 2018 Nov 28.
Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway; Department of Pediatrics, Sørlandet Hospital, Arendal, Norway.
Development of the cerebral cortex may be affected by aberrant white matter development. Preterm birth with very low birth weight (VLBW) has been associated with reduced fractional anisotropy of white matter and changes in cortical thickness and surface area. We use a new methodological approach to combine white and gray matter data and test the hypothesis that white matter injury is primary, and acts as a mediating factor for concomitant gray matter aberrations, in the developing VLBW brain. Read More
J Theor Biol 2018 Nov 29;462:446-454. Epub 2018 Nov 29.
IVIRMA, Madrid. Av del Talgo, Madrid, 68. 28023, Spain; IdiPaz, Calle de Pedro Rico, Madrid, 6. 28029, Spain; Rey Juan Carlos University, Madrid, Spain. Electronic address:
The aim of this work is to study the aging rate at which human follicles reach the preovulatory state. To this end, both telomere length and telomerase activity effects on granulosa cells (GCs) aging has been studied. GCs are somatic cells which determine the development of the oocyte. Read More
Rev Int Androl 2018 Nov 27. Epub 2018 Nov 27.
Radiology Department, Hospital Clínico Universitario de Santiago de Compostela, Spain.
Partial thrombosis of corpus cavernosum is an uncommon condition that needs a high level of suspicious to be diagnosed. Imaging techniques may be very useful, and MR is the state-of-the-art technique. We present a case of a young male who presented to the emergency department with perineal and painful mass. Read More
Pediatr Neurol 2018 Oct 8;87:23-29. Epub 2018 Aug 8.
Pediatric Oncology Institute/GRAACC, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.
Background: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited.
Methods: We conducted a literature review and extracted data from the case reports. Read More
Cardiol Young 2018 Dec 3:1-6. Epub 2018 Dec 3.
4Department of Pediatric Cardiology,Driscoll Children's Hospital,Corpus Christi,TX,USA.
RationaleAspirin resistance has been reported in up to 80% of children with cardiovascular defects undergoing surgery. Because of a patient who had embolic stroke while on therapeutic aspirin dose but in whom aspirin resistance was present on his thromboelastography platelet mapping, we chose to obtain thromboelastography platelet mapping on cardiac patients on aspirin to assess their risk. OBJECTIVES: This study evaluates aspirin resistance noted in these patients and their characteristics. Read More
J Histochem Cytochem 2018 Nov 30:22155418815860. Epub 2018 Nov 30.
Biogen, Cambridge, Massachusetts.
Myelin is composed primarily of lipids and diseases affecting myelin are associated with alterations in its lipid composition. However, correlation of the spatial (in situ) distribution of lipids with the disease-associated compositional and morphological changes is not well defined. Herein we applied high resolution matrix-assisted laser desorption ionization imaging mass spectrometry (MALDI-IMS), immunohistochemistry (IHC), and liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) to evaluate brain lipid alterations in the dysmyelinating shiverer (Shi) mouse and cuprizone (Cz) mouse model of reversible demyelination. Read More