Database : MEDLINE
Search on : Nervous and System and Malformations [Words]
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[PMID]: 29445148
[Au] Autor:Zhang Q; Huang R; Ye Y; Guo X; Lu J; Zhu F; Gong X; Zhang Q; Yan J; Luo L; Zhuang S; Chen Y; Zhao X; Evans SM; Jiang C; Liang X; Sun Y
[Ad] Address:Key Laboratory of Arrhythmia, Ministry of Education, East Hospital, Tongji University School of Medicine, Shanghai, China.
[Ti] Title:Temporal requirements for ISL1 in sympathetic neuron proliferation, differentiation, and diversification.
[So] Source:Cell Death Dis;9(2):247, 2018 Feb 14.
[Is] ISSN:2041-4889
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Malformations of the sympathetic nervous system have been associated with cardiovascular instability, gastrointestinal dysfunction, and neuroblastoma. A better understanding of the factors regulating sympathetic nervous system development is critical to the development of potential therapies. Here, we have uncovered a temporal requirement for the LIM homeodomain transcription factor ISL1 during sympathetic nervous system development by the analysis of two mutant mouse lines: an Isl1 hypomorphic line and mice with Isl1 ablated in neural crest lineages. During early development, ISL1 is required for sympathetic neuronal fate determination, differentiation, and repression of glial differentiation, although it is dispensable for initial noradrenergic differentiation. ISL1 also plays an essential role in sympathetic neuron proliferation by controlling cell cycle gene expression. During later development, ISL1 is required for axon growth and sympathetic neuron diversification by maintaining noradrenergic differentiation, but repressing cholinergic differentiation. RNA-seq analyses of sympathetic ganglia from Isl1 mutant and control embryos, together with ISL1 ChIP-seq analysis on sympathetic ganglia, demonstrated that ISL1 regulates directly or indirectly several distinct signaling pathways that orchestrate sympathetic neurogenesis. A number of genes implicated in neuroblastoma pathogenesis are direct downstream targets of ISL1. Our study revealed a temporal requirement for ISL1 in multiple aspects of sympathetic neuron development, and suggested Isl1 as a candidate gene for neuroblastoma.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1038/s41419-018-0283-9

  2 / 9539 MEDLINE  
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[PMID]: 29382549
[Au] Autor:Huang H; Yang T; Shao Q; Majumder T; Mell K; Liu G
[Ad] Address:Department of Biological Sciences, University of Toledo, 2801 West Bancroft St., Toledo, OH 43606, USA.
[Ti] Title:Human TUBB3 Mutations Disrupt Netrin Attractive Signaling.
[So] Source:Neuroscience;374:155-171, 2018 Mar 15.
[Is] ISSN:1873-7544
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Heterozygous missense mutations in human TUBB3 gene result in a spectrum of brain malformations associated with defects in axon guidance, neuronal migration and differentiation. However, the molecular mechanisms underlying mutation-related axon guidance abnormalities are unclear. Recent studies have shown that netrin-1, a canonical guidance cue, induced the interaction of TUBB3 with the netrin receptor deleted in colorectal cancer (DCC). Furthermore, TUBB3 is required for netrin-1-induced axon outgrowth, branching and pathfinding. Here, we provide evidence that TUBB3 mutations impair netrin/DCC signaling in the developing nervous system. The interaction of DCC with most TUBB3 mutants (eight out of twelve) is significantly reduced compared to the wild-type TUBB3. TUBB3 mutants R262C and A302V exhibit decreased subcellular colocalization with DCC in the growth cones of primary neurons. Netrin-1 increases the interaction of endogenous DCC with wild-type human TUBB3, but not R262C or A302V, in primary neurons. Netrin-1 also increases co-sedimentation of DCC with polymerized microtubules (MTs) in primary neurons expressing the wild-type TUBB3, but not R262C or A302V. Expression of either R262C or A302V not only suppresses netrin-1-induced neurite outgrowth, branching and attraction in vitro, but also causes defects in spinal cord commissural axon (CA) projection and pathfinding in ovo. Our study reveals that missense TUBB3 mutations specifically disrupt netrin/DCC-mediated attractive signaling.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

  3 / 9539 MEDLINE  
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[PMID]: 29344994
[Au] Autor:Shoja MM; Ramdhan R; Jensen CJ; Chern JJ; Oakes WJ; Tubbs RS
[Ad] Address:Neuroscience Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
[Ti] Title:Embryology of the craniocervical junction and posterior cranial fossa, part II: Embryogenesis of the hindbrain.
[So] Source:Clin Anat;, 2018 Jan 18.
[Is] ISSN:1098-2353
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Although pathology of the hindbrain and its derivatives can have life altering effects on a patient, a comprehensive review on its embryology is difficult to find in the peer-reviewed medical literature. Therefore, this review article, using standard search engines, seemed timely. The embryology of the hindbrain is complex and relies on a unique timing of various neurovascular and bony elements. Derailment of these developmental processes can lead to a wide range of malformations such as the Chiari malformations. Therefore, a good working knowledge of this embryology as outlined in this review of the hindbrain is important for those treating patients with involvement of this region of the central nervous system. Clin. Anat., 2018. © 2018 Wiley Periodicals, Inc.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1002/ca.23048

  4 / 9539 MEDLINE  
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[PMID]: 29425323
[Au] Autor:Azad TD; Veeravagu A; Li A; Zhang M; Madhugiri V; Steinberg GK
[Ad] Address:Department of Neurosurgery, Stanford University School of Medicine, Stanford, California.
[Ti] Title:Long-Term Effectiveness of Gross-Total Resection for Symptomatic Spinal Cord Cavernous Malformations.
[So] Source:Neurosurgery;, 2018 Feb 06.
[Is] ISSN:1524-4040
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Intramedullary spinal cord cavernous malformations (CMs) account for 5% of all CMs in the central nervous system and 5% to 12% of all spinal cord vascular lesions, yet their optimal management is controversial. OBJECTIVE: To identify factors associated with the clinical progression of spinal cord CMs and quantify the range of surgical outcomes. METHODS: Retrospective observational cohort study of 32 patients who underwent open surgical resection for spinal CMs, the majority of which presented to a dorsal or lateral pial surface, from 1996 to 2017 at a single institution. We evaluated outcomes as clinically improved, worsened, or unchanged against preoperative baseline; Frankel and Aminoff-Logue disability grades were also calculated. RESULTS: Mean age at presentation was 44.2 (range, 0.5-77 yr). Symptoms included sensory deficits (n = 26, 81%), loss of strength/coordination (n = 16, 50%), pain (n = 16, 50%), and bladder/bowel dysfunction (n = 6, 19%). Thoracic (n = 16, 50%) and cervical CMs (n = 16, 50%) were equally common, with overall mean size of 7.1 mm (range, 1-20 mm). Functional outcomes at last follow-up, compared to preoperative status for patients with >6 mo of follow-up, were improved in 6 (23%), unchanged in 19 (73%), and worsened in 1 (4%) patients. Preoperative Frankel grade and improved Frankel grade immediately following resection were strongly associated with improvement from baseline at long-term followup (P < .01). CONCLUSION: Gross total resection of symptomatic spinal cord CMs can prevent further neurological decline. Our experience suggests excellent long-term outcomes and minimal surgical morbidity following resection.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/neuros/nyx610

  5 / 9539 MEDLINE  
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[PMID]: 28450830
[Au] Autor:Elliott KL; Kersigo J; Pan N; Jahan I; Fritzsch B
[Ad] Address:Department of Biology, University of IowaIowa City, IA, USA.
[Ti] Title:Spiral Ganglion Neuron Projection Development to the Hindbrain in Mice Lacking Peripheral and/or Central Target Differentiation.
[So] Source:Front Neural Circuits;11:25, 2017.
[Is] ISSN:1662-5110
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:We investigate the importance of the degree of peripheral or central target differentiation for mouse auditory afferent navigation to the organ of Corti and auditory nuclei in three different mouse models: first, a mouse in which the differentiation of hair cells, but not central auditory nuclei neurons is compromised ( ); second, a mouse in which hair cell defects are combined with a delayed defect in central auditory nuclei neurons ( ), and third, a mouse in which both hair cells and central auditory nuclei are absent ( ). Our results show that neither differentiated peripheral nor the central target cells of inner ear afferents are needed (hair cells, cochlear nucleus neurons) for segregation of vestibular and cochlear afferents within the hindbrain and some degree of base to apex segregation of cochlear afferents. These data suggest that inner ear spiral ganglion neuron processes may predominantly rely on temporally and spatially distinct molecular cues in the region of the targets rather than interaction with differentiated target cells for a crude topological organization. These developmental data imply that auditory neuron navigation properties may have evolved before auditory nuclei.
[Mh] MeSH terms primary: Basic Helix-Loop-Helix Transcription Factors/deficiency
Cell Differentiation/genetics
Hair Cells, Auditory/physiology
Nervous System Malformations/pathology
PAX2 Transcription Factor/deficiency
Rhombencephalon/pathology
Spiral Ganglion
[Mh] MeSH terms secundary: Animals
Animals, Newborn
Auditory Pathways/embryology
Basic Helix-Loop-Helix Transcription Factors/genetics
Cochlear Nucleus/cytology
Cochlear Nucleus/embryology
Cochlear Nucleus/growth & development
Embryo, Mammalian
Mice
Mice, Knockout
Nervous System Malformations/genetics
PAX2 Transcription Factor/genetics
Spiral Ganglion/embryology
Spiral Ganglion/growth & development
Spiral Ganglion/pathology
beta-Galactosidase/genetics
beta-Galactosidase/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Atoh1 protein, mouse); 0 (Basic Helix-Loop-Helix Transcription Factors); 0 (PAX2 Transcription Factor); 0 (Pax2 protein, mouse); EC 3.2.1.23 (beta-Galactosidase)
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.3389/fncir.2017.00025

  6 / 9539 MEDLINE  
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[PMID]: 29210307
[Au] Autor:Cim N; Tolunay HE; Karaman E; Boza B; Bilici M; Çetin O; Yildizhan R; Sahin HG
[Ad] Address:1 Yuzuncu Yil University Medical Faculty, Department of Obstetrics and Gynecology, Van, Turkey.
[Ti] Title:Amniotic fluid oxidant-antioxidant status in foetal congenital nervous system anomalies.
[So] Source:J Int Med Res;46(3):1146-1152, 2018 Mar.
[Is] ISSN:1473-2300
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objective This study aimed to evaluate the oxidant-antioxidant status of amniotic fluid in pregnant women with foetal congenital malformations of the central nervous system. Methods We studied pregnant women with foetal congenital nervous system anomalies at 16-22 weeks' gestation (n = 36). The control group (n = 30) consisted of pregnant women at the same gestational age who underwent amniocentesis, resulting in a normal karyotype. We analysed glutathione, catalase, and malondialdehyde levels in amniotic fluid. Enzyme activation was measured by spectrophotometry. Results The demographic features of the groups were similar in terms of age, parity, body mass index, and gestational weeks. We detected lower glutathione and catalase levels in the foetal congenital anomaly group than in the control group. We detected higher malondialdehyde levels in the foetal congenital anomaly group than in the control group. Conclusion In the organism, the rate of formation of free radicals and their rate of removal are balanced, and this is called oxidative balance. As long as oxidative stability is achieved, the organism is not affected by free radicals. This fact should be kept in mind to avoid any type of teratogenic agent that could lead to congenital disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.1177/0300060517734443

  7 / 9539 MEDLINE  
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[PMID]: 28451716
[Au] Autor:Mayer C; Hattingen E; Schild H; Bootz F; Schröck A
[Ad] Address:Klinik für Radiologie, Universität Bonn, Bonn, Deutschland.
[Ti] Title:Interventionelle Radiologie im Kopf-Hals-Bereich. [Interventional radiology in the head and neck region].
[So] Source:HNO;65(6):482-489, 2017 Jun.
[Is] ISSN:1433-0458
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:In interventional neuroradiology, endovascular embolization represents an important and helpful tool in the treatment of multiple head and neck diseases. These interventional procedures may be performed with curative intent, to reduce the surgical risk within a multimodal treatment concept, or to improve or at least maintain a good quality of life within a palliative therapy concept. In addition to a good understanding of disease pathology, knowledge of vascular anatomy, including collateral vessels and dangerous extracranial-intracranial anastomoses, is essential for successful treatment, as is implementation of an established technique using appropriate material. Indications for endovascular embolization are i. otherwise unmanageable bleeding (caused by e. g., trauma, vascular malformation, or tumor), ii. reduction of perioperative bleeding by preoperative embolization in case of a hypervascularized tumor, iii. selective induction of tumor necrosis by palliative embolization to enhance local tumor control. Major complications such as stroke, loss of vision, and cranial nerve palsy are mostly due to a lack of preinterventional evaluation. Regarding neurological deficits, interventions within the supply region of the external carotid artery have a complication rate below 1%.
[Mh] MeSH terms primary: Central Nervous System Vascular Malformations/diagnostic imaging
Central Nervous System Vascular Malformations/therapy
Embolization, Therapeutic/methods
Head and Neck Neoplasms/diagnostic imaging
Head and Neck Neoplasms/therapy
Hemostatics/therapeutic use
Radiography, Interventional/methods
[Mh] MeSH terms secundary: Evidence-Based Medicine
Head/blood supply
Head/diagnostic imaging
Humans
Neck/blood supply
Neck/diagnostic imaging
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Hemostatics)
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1007/s00106-017-0354-8

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[PMID]: 29502919
[Au] Autor:Gardeitchik T; Wyckmans J; Morava E
[Ad] Address:Department of Human Genetics, Radboudumc Medical Center, Geert Grooteplein, 6500 HB, Nijmegen, The Netherlands.
[Ti] Title:Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.
[So] Source:Pediatr Clin North Am;65(2):375-388, 2018 Apr.
[Is] ISSN:1557-8240
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Chronic lactic acidosis is highly suggestive of mitochondrial dysfunction. Serum transferrin isoform analysis is specific for glycosylation abnormalities but not abnormal in all types of CDG.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review

  9 / 9539 MEDLINE  
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[PMID]: 29497821
[Au] Autor:Chen L; Yang T; Zheng Z; Yu H; Wang H; Qin J
[Ad] Address:Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, 110 Xiangya Road, Changsha, 410078, Hunan, China.
[Ti] Title:Birth prevalence of congenital malformations in singleton pregnancies resulting from in vitro fertilization/intracytoplasmic sperm injection worldwide: a systematic review and meta-analysis.
[So] Source:Arch Gynecol Obstet;, 2018 Mar 01.
[Is] ISSN:1432-0711
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:PURPOSE: We conducted a systematic review and meta-analysis to estimate the worldwide birth prevalence of total congenital malformations (CMs), major CMs, and specific CMs according to organs and systems classification associated with IVF/ICSI singleton pregnancies. METHODS: Unrestricted searches were conducted, with an end-date parameter of 1 June 2017, of PubMed, Embase, Google Scholar, Cochrane Libraries, and Chinese databases, to identify cohort studies assessing CMs associated with IVF/ICSI singleton pregnancies. The prevalence estimates were summarized and analyzed by meta-analysis. RESULTS: Thirty-four cohort studies comprising 159,021 IVF/ICSI and 6704,405 spontaneously conceived singleton pregnancies met the inclusion criteria. Among IVF/ICSI singleton pregnancies, pooled estimates of total CMs and major CMs (per 10,000) were 484.3 (95% CI 363.8-641.9) and 475.8 (95% CI 304.9-735.2), respectively; for specific CMs, pooled estimates 13.04 (95% CI 9.90-17.18) for cleft lip and/or palate, 17.01 (95% CI 8.01-36.06) for eye, ear, face, and neck malformations, 16.51(95% CI 11.56-23.57) for nervous system malformations, 36.21 (95% CI 26.20-50.02) for chromosomal defects, 8.31 (95% CI 4.21-16.40) for respiratory system malformations, 38.01 (95% CI 24.06-60.00) for digestive system malformations, 110.25 (95% CI 66.92-181.12) for musculoskeletal system malformations, 108.92 (95% CI 68.73-172.21) for urogenital system malformations, and 77.20 (95% CI 53.25-111.80) for circulatory system malformations. The IVF/ICSI singleton pregnancies compared with those conceived naturally experienced higher prevalence of total CMs, major CMs, and most specific CMs. Significant differences across continents, countries, types of assisted conception, and diagnose time of CMs were observed for total CMs birth prevalence among IVF/ICSI singleton pregnancies. CONCLUSIONS: The IVF/ICSI singleton pregnancies were significantly associated with high birth prevalence of CMs, representing a major global health burden. Significant differences across continents, countries, types of ART, and diagnose time of CMs were found. However, it remains uncertain whether detected differences represent true or methodological differences. In the future, population wide prospective CMs' registries covering the entire world population are needed to determine the exact birth prevalence.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1007/s00404-018-4712-x

  10 / 9539 MEDLINE  
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[PMID]: 29229467
[Au] Autor:Altassan R; Witters P; Saifudeen Z; Quelhas D; Jaeken J; Levtchenko E; Cassiman D; Morava E
[Ad] Address:Medical Genetic Department, Montréal Children Hospital, McGill University, Montreal, Canada; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
[Ti] Title:Renal involvement in PMM2-CDG, a mini-review.
[So] Source:Mol Genet Metab;123(3):292-296, 2018 Mar.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG. Renal abnormalities were reported in 56 patients. Congenital abnormalities were present in 41 out of these 55. Cystic kidney and mild proteinuria were the most common findings. One of the most severe renal manifestations, congenital nephrotic syndrome, was detected in 6 children. Renal manifestations were not associated with the presence of specific PMM2 alleles. This review summarizes the reported renal abnormalities in PMM2-CDG and draws attention to the pathophysiological impact of abnormal glycosylation on kidney structure and function.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review


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