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https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#1
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29679773/distinctive-infectious-complications-in-patients-with-central-nervous-system-lymphoma-undergoing-thiotepa-busulfan-and-cyclophosphamide-tbc-conditioned-autologous-stem-cell-transplantation
#2
Michael Scordo, Sejal M Morjaria, Eric R Littmann, Ankush Bhatia, Helen H Chung, Molly Maloy, Lisa M DeAngelis, Sergio A Giralt, Ying Taur, Craig S Sauter
We investigated the incidence of viral, fungal, bacterial, and parasitic infections observed in 57 patients with central nervous system lymphoma (CNSL) after TBC-ASCT and 79 patients with systemic NHL after traditional BEAM-ASCT. Twenty of 57 (35%) TBC-ASCT patients had detectable viremia with human herpesvirus 6 (HHV-6), cytomegalovirus (CMV), adenovirus (ADV), or BK virus (BKV), versus 9 of 79 (11%) BEAM-ASCT patients. Nine TBC-ASCT patients had clinically relevant viral infections (4 HHV-6, 2 CMV, 1 ADV, 2 BKV), versus 0 in the BEAM-ASCT group...
April 18, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29679719/localization-of-cholecystokinin-in-the-zebrafish-retina-from-larval-to-adult-stage
#3
M C Guerrera, F Abbate, G Di Caro, G P Germanà, M Levanti, V Micale, G Montalbano, R Laurà, A Germanà, U Muglia
The peptide hormone cholecistokinin (CCK) plays a key role in the central and peripheral nervous system. It is known to be involved in the digestive physiology and in the regulation of food intake. Moreover, the CCK expression has also been detected in the retina of different vertebrates, including fish, although its biological activity in this tissue remains to be elucidated. In literature no data are yet available about the CCK-immunoreactivity in the zebrafish retina during development. Therefore, the aim of the study was to investigate the distribution of sulfated cholecystokinin octapeptide (CCK8-S) as a well preserved form during evolution in the zebrafish retina from 3days post hatching (dph) until adult stage, using immunohistochemistry in order to elucidate the potential role of this protein in the development and maintenance of normal retinal homeostasis...
April 18, 2018: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/29679684/expression-profile-and-reproductive-regulation-of-apgwamide-in-pacific-abalone-haliotis-discus-hannai
#4
Kyeong Seop Kim, Tae Ha Kim, Mi Ae Kim, Jung Sick Lee, Young Chang Sohn
Neuropeptides in the central nervous system regulate reproductive activities in vertebrates. Ala-Pro-Gly-Trp-NH2 (APGWamide), a neuromediator expressed in the neural ganglia of mollusks, controls sexual maturation and reproduction. To clarify the role of APGWamide in sexual behavior regulation and gamete cell maturation in mollusks, we cloned the cDNA of APGWamide precursor (Hdh-APGWamide) and examined the spatiotemporal expression of the transcript in the Pacific abalone Haliotis discus hannai. The 222-amino acid sequence of the precursor deduced from the cDNA sequence showed typical features of gastropod APGWamide precursors...
April 18, 2018: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/29679562/myotube-derived-factor-promotes-oligodendrocyte-precursor-cell-proliferation
#5
Akino Nakasone, Rieko Muramatsu, Yuki Kato, Yukio Kawahara, Toshihide Yamashita
Muscle cells secrete numerous molecules that function as endocrine hormones and regulate the functions of distant organs. Myelination in the central nervous system (CNS) is regulated by peripheral hormones. However, the effects of muscle-derived molecules on myelination have not been sufficiently analyzed. In this study, we show that muscle-releasing factors promote proliferation of oligodendrocyte precursor cells (OPCs), which is an element of myelination process. Supernatants of mouse myotube cultures stimulated bromodeoxyuridine (BrdU) incorporation into mouse OPCs...
April 18, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29679543/retrograde-influences-of-scg-axotomy-on-uninjured-preganglionic-neurons
#6
Sean M Gannon, Kiel Hawk, Brian F Walsh, Aminata Coulibaly, Lori G Isaacson
There is evidence that neuronal injury can affect uninjured neurons in the same neural circuit. The overall goal of this study was to understand the effects of peripheral nerve injury on uninjured neurons located in the central nervous system (CNS). As a model, we examined whether axotomy (transection of postganglionic axons) of the superior cervical ganglion (SCG) affected the uninjured, preganglionic neurons that innervate the SCG. At 7 days post-injury a reduction in choline acetyltransferase (ChAT) and synaptophysin immunoreactivity in the SCG, both markers for preganglionic axons, was observed, and this reduction persisted at 8 and 12 weeks post-injury...
April 18, 2018: Brain Research
https://www.readbyqxmd.com/read/29679510/molecular-characteristics-of-multifocal-brain-histiocytic-sarcoma
#7
Florent Marguet, Nicolas Piton, Homa Adle-Biassette, Florence Renaud, Elodie Bohers, Thomas Boyer, Aline Zarea, Stéphane Derrey, Jean Christophe Sabourin, Annie Laquerrière
Histiocytic sarcoma (HS) is a very uncommon malignant proliferation accounting for less than 1% of all neoplasms of hematopoietic and lymphoid tissues. According to the 2008 WHO classification of haematological and lymphoid tumours, diagnosis of HS requires histological and immunohistochemical evidence of histiocytic differentiation [1]. The 2016 Central nervous system (CNS) WHO classification parallels the categories of the corresponding WHO classification of hematopoietic and lymphoid tissues. By definition, diagnosis of HS relies on the expression of at least two of the histiocytic markers, e...
April 21, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29679196/role-of-mr-spectroscopy-in-diagnosis-of-intracranial-neuroenteric-cyst
#8
R V Phadke, Suprava Naik, Alok Udiya, Gurucharan S Shetty, Vivek Singh, Sanjeev Kumar Bhoi
INTRODUCTION: Neuroenteric cysts are rare benign endodermal lesions of the central nervous system that result from incomplete resorption of neuroenteric canal and mostly found in cervical and upper thoracic spinal canal. Intracranial neuroenteric cysts are extra axial and commonly located anteriorly in the posterior cranial fossa. MRI demonstrates variable intensity within the lesion on T1, T2W, and DWI sequences. METHODS: Three cases of posterior fossa non-enhancing cystic lesions of variable signal intensity underwent MRI with MR spectroscopy, where MR spectroscopy demonstrated dominant peak at 2 ppm, mimicking normal Nacetyl aspartate (NAA)...
April 20, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29679165/future-brain-and-spinal-cord-volumetric-imaging-in-the-clinic-for-monitoring-treatment-response-in-ms
#9
REVIEW
Tim Sinnecker, Cristina Granziera, Jens Wuerfel, Regina Schlaeger
PURPOSE OF REVIEW: Volumetric analysis of brain imaging has emerged as a standard approach used in clinical research, e.g., in the field of multiple sclerosis (MS), but its application in individual disease course monitoring is still hampered by biological and technical limitations. This review summarizes novel developments in volumetric imaging on the road towards clinical application to eventually monitor treatment response in patients with MS. RECENT FINDINGS: In addition to the assessment of whole-brain volume changes, recent work was focused on the volumetry of specific compartments and substructures of the central nervous system (CNS) in MS...
April 20, 2018: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29679127/-basic-principles-of-diagnosis-and-treatment-of-gliomas
#10
REVIEW
H-G Wirsching, T Weiss, P Roth, M Weller
BACKGROUND: Traditionally, gliomas were classified based on histopathological features alone. The revised World Health Organization (WHO) classification of tumors of the central nervous system from 2016 integrated molecular features into the histopathological diagnosis. OBJECTIVE: To summarize key aspects of the WHO classification from 2016 and implications for the clinical management of glioma patients. An overview of novel treatment approaches is also provided...
April 20, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29678775/involvement-of-gap-junctions-in-astrocyte-impairment-induced-by-manganese-exposure
#11
Cailing Lu, Zhijuan Meng, Yiyuan He, Deqiang Xiao, Haiqing Cai, Yilu Xu, Xianghong Liu, Xinhang Wang, Laiming Mo, Ziwei Liang, Xuejing Wei, Qingqing Ao, Boying Liang, Xiyi Li, Shen Tang, Songchao Guo
Glutamate excitotoxicity, characterized as excessive glutamate stress, is considered to be involved in cerebral ischaemia, brain trauma, and neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease. Glutamate homeostasis disruption was highlighted in Mn neurotoxicity caused by high levels of Mn. Astrocytes, accounting for approximately 50% of the neuronal cells in the central nervous system and maintain glutamate homeostasis, are sensitive to neurotoxicity induced by Mn exposure. Astrocytes are tightly coupled with gap junctions (GJ), which are comprised of connexins, mainly connexin43 (Cx43)...
April 17, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29678710/pediatric-type-follicular-lymphoma-in-the-dura-a-case-report-and-literature-review
#12
Junya Yamaguchi, Seiichi Kato, Eri Iwata, Kosuke Aoki, Ryusuke Kabeya, Atsushi Natsume, Toshihiko Wakabayashi
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a relatively common tumor of the central nervous system. Although PCNSLs generally arise from the parenchyma, lymphomas arising primarily from the dura are termed dural lymphomas (DL). Mucosa-associated lymphoid tissue is the most unique histological feature of DL. Due to its rarity, clinical characteristics and treatments for DL have not been fully elucidated to date. CASE DESCRIPTION: A 31-year-old man with no past medical history presented with numbness in his left upper limb...
April 17, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29678629/biological-activities-of-laminin-111-derived-peptide-chitosan-matrices-in-a-primary-culture-of-rat-cortical-neurons
#13
Hideki Hayashi, Mariko Yamada, Jun Kumai, Norio Takagi, Motoyoshi Nomizu
Cell adhesive biomaterials have been used for various cells in culture, especially for primary cultures of neurons. Here we examined laminin-111 and its active peptides conjugated to chitosan matrices (ChtMs) for primary culture of rat cortical neurons. Laminin-111 on poly-d-lysine substrate promoted neuronal cell attachment and differentiation. The biological activity of six active laminin-111-derived peptides was examined using a peptide-ChtM construct. When the syndecan-binding peptides, AG73 (RKRLQVQLSIRT, mouse laminin α1 chain 2719-2730) and C16 (KAFDITYVRLKF, laminin γ1 chain 139-150), were conjugated to chitosan, AG73-ChtM and C16-ChtM showed potent neuronal cell attachment activity and promoted axon extension by primary cultured rat cortical neurons...
April 17, 2018: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29678476/cabazitaxel-plus-lapatinib-as-therapy-for-her2-metastatic-breast-cancer-with-intracranial-metastases-results-of-a-dose-finding-study
#14
Denise A Yardley, Lowell L Hart, Patrick J Ward, Gail L Wright, Mythili Shastry, Lindsey Finney, Laura M DeBusk, John D Hainsworth
BACKGROUND: Lapatinib is an oral small molecule tyrosine kinase epidermal growth factor receptor-1/HER2 inhibitor that crosses the blood-brain barrier and is active against central nervous system (CNS) metastases. Cabazitaxel is a taxoid that is effective against taxane-resistant metastatic breast cancer (MBC) and has distinguished itself by its ability to cross the blood-brain barrier. The present phase II study (ClinicalTrials.gov identifier, NCT01934894) evaluated the combination of these agents to treat HER2+ MBC patients with CNS metastases...
March 8, 2018: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29678281/an-orphan-g-protein-coupled-receptor-causes-human-gigantism-and-or-acromegaly-molecular-biology-and-clinical-correlations
#15
REVIEW
Giampaolo Trivellin, Laura C Hernández-Ramírez, Jeremy Swan, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678196/astroblastoma-a-rare-and-challenging-tumor-a-case-report-and-review-of-the-literature
#16
Nawal Hammas, Nadia Senhaji, My Youssef Alaoui Lamrani, Sanae Bennis, Elfaiz Mohamed Chaoui, Hind El Fatemi, Laila Chbani
BACKGROUND: Astroblastoma is a controversial and an extremely rare central nervous system neoplasm. Although its histogenesis has been clarified recently, controversies exist regarding its cellular origin and validity as a distinct entity. Because of its extreme rarity and because its common features are shared with other glial neoplasms, this tumor is prone to misdiagnosis and remains challenging not only in terms of diagnosis and classification but also in the subsequent management...
April 21, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29678185/the-intrathecal-expression-and-pathogenetic-role-of-th17-cytokines-and-cxcr2-binding-chemokines-in-tick-borne-encephalitis
#17
Sambor Grygorczuk, Renata Świerzbińska, Maciej Kondrusik, Justyna Dunaj, Piotr Czupryna, Anna Moniuszko, Agnieszka Siemieniako, Sławomir Pancewicz
BACKGROUND: Tick-borne encephalitis (TBE) is a clinically variable but potentially severe Flavivirus infection, with the outcome strongly dependent on secondary immunopathology. Neutrophils are present in cerebrospinal fluid (CSF) of TBE patients, but their pathogenetic role remains unknown. In animal models, neutrophils contributed both to the Flavivirus entry into central nervous system (CNS) and to the control of the encephalitis, which we attempted to evaluate in human TBE. METHODS: We analyzed records of 240 patients with TBE presenting as meningitis (n = 110), meningoencephalitis (n = 114) or meningoencephalomyelitis (n = 16) assessing CSF neutrophil count on admission and at follow-up 2 weeks later, and their associations with other laboratory and clinical parameters...
April 20, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29677701/surgical-treatment-and-long-term-outcome-of-cerebral-cavernous-malformations-related-epilepsy-in-pediatric-patients
#18
Qiao Lin, Peng-Fan Yang, Yan-Zeng Jia, Jia-Sheng Pei, Hui Xiao, Ting-Ting Zhang, Zhong-Hui Zhong, Shou-Sen Wang
Cerebral cavernous malformations (CMs) are vascular malformations affecting any part of the central nervous system. Clinical data and surgical outcomes for 27 pediatric patients with CM-related epilepsy were retrospectively reviewed. The mean age of onset was 12.71 ± 4.09 years, and the mean duration of epilepsy was 2.34 ± 1.95 years. All 27 patients were treated with microsurgery for resection of the CMs, and the hemosiderin rim, and the secondary epileptogenic zone if necessary. The mean follow-up period was 6...
April 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29677620/hippocampal-fxr-plays-a-role-in-the-pathogenesis-of-depression-a-preliminary-study-based-on-lentiviral-gene-modulation
#19
Wei-Guan Chen, Jia-Xuan Zheng, Xi Xu, Yu-Ming Hu, Yu-Min Ma
As a well-known bile acid receptor, the role of Farnesoid X receptor (FXR) in the digestive system and cardiovascular system has been widely explored. However, there are very few studies involving FXR in the central nervous system. In this study, we explored the role of FXR in the pathogenesis of depression, a serious and worldwide neuropsychiatric disease. It was found that chronic unpredictable mild stress (CUMS) fully enhanced the protein and mRNA expressions of FXR in hippocampus, but not medial prefrontal cortex (mPFC)...
April 10, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29677516/structural-basis-for-teneurin-function-in-circuit-wiring-a-toxin-motif-at-the-synapse
#20
Jingxian Li, Moran Shalev-Benami, Richard Sando, Xian Jiang, Amanuel Kibrom, Jie Wang, Katherine Leon, Christopher Katanski, Olha Nazarko, Yue C Lu, Thomas C Südhof, Georgios Skiniotis, Demet Araç
Teneurins (TENs) are cell-surface adhesion proteins with critical roles in tissue development and axon guidance. Here, we report the 3.1-Å cryoelectron microscopy structure of the human TEN2 extracellular region (ECR), revealing a striking similarity to bacterial Tc-toxins. The ECR includes a large β barrel that partially encapsulates a C-terminal domain, which emerges to the solvent through an opening in the mid-barrel region. An immunoglobulin (Ig)-like domain seals the bottom of the barrel while a β propeller is attached in a perpendicular orientation...
April 19, 2018: Cell
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