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Search on : tooth and abnormalities [Words]
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[PMID]: 29246495
[Au] Autor:Lee S; Bazick H; Chittoor-Vinod V; Al Salihi MO; Xia G; Notterpek L
[Ad] Address:Department of Neuroscience, College of Medicine, University of Florida, Gainesville, Florida.
[Ti] Title:Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.
[So] Source:Am J Pathol;188(3):728-738, 2018 Mar.
[Is] ISSN:1525-2191
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Although studies from animal models have led to better understanding of the pathobiology of these neuropathies, there continues to be a gap in the translation of findings from rodents to humans. Because PMP22 was originally identified in fibroblasts as growth arrest specific gene 3 (gas3) and is expressed broadly in the body, it was tested whether skin cells from neuropathic patients would display the cellular pathology observed in Schwann cells from rodent models. Dermal fibroblasts from two CMT1A pedigrees with confirmed PMP22 gene duplication were studied. Samples from age-matched non-neuropathic individuals were used as controls. CMT1A patient-derived cultures contain approximately 1.5-fold elevated levels of PMP22 mRNA, exhibit reduced mitotic potential, and display intracellular protein aggregates as compared to cells from unaffected individuals. The presence of cytosolic PMP22 coincides with a decrease in proteasome activity and an increase in autophagy-lysosomal proteins, including LC3-II and LAMP1. These results indicate that the abnormalities in the subcellular processing of excess PMP22 elicit a detectable response in human CMT1A fibroblasts, a phenotype that resembles Schwann cells from neuropathic mice. These findings support the use of human CMT1A fibroblasts as a platform for therapy testing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review

  2 / 8248 MEDLINE  
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[PMID]: 29509311
[Au] Autor:Pollaris E; Haspeslagh M; Van den Wyngaert G; Vlaminck L
[Ad] Address:Department of Surgery and Anaesthesiology of Large Animals, Faculty of Veterinary Medicine, Ghent University, Salisburylaan 133, 8920, Merelbeke, Belgium.
[Ti] Title:Equine cheek teeth occlusal fissures: prevalence, association with dental wear abnormalities and occlusal angles.
[So] Source:Equine Vet J;, 2018 Mar 06.
[Is] ISSN:2042-3306
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Fissures of the occlusal surface of equine cheek teeth are commonly encountered during oral examination but their aetiology is unknown. OBJECTIVES: To examine the prevalence and characteristics of occlusal fissures in cadaver teeth. It is hypothesised that their prevalence is influenced by masticatory forces. Consequently, their possible association with wear disorders and occlusal angles were examined. STUDY DESIGN: Cross-sectional survey. METHODS: The dental abnormalities and occlusal fissure findings in the cheek teeth of 143 cadaver heads were recorded. The cheek teeth occlusal angles were measured using the stiff-hinge technique. Multiple regression analyses were performed to establish possible relationships between age, sex, dental wear, occlusal angle and fissure prevalence. RESULTS: Occlusal fissures were found in 103/143 (72%) heads. Sex and age were determining factors in the prevalence of fissures. A similar prevalence was found in mandibular (54.1%) and maxillary teeth (45.9%, OR = 1.10; 95% CI = 0.95 - 1.29, p = 0.2). Mandibular fissures were more commonly located on the buccal aspect (OR = 1.42; 95% CI = 1.16 - 1.65, p < 0.001) whereas for maxillary fissures there was no difference in prevalence between palatal and buccal aspects (OR = 1.19; 95% CI = 0.97 - 1.46, p = 0.1). Two main fissure types were identified. Type 1a fissures were the most prevalent type (39.5%). No significant correlation was found between the presence of wear abnormalities or the occlusal angle of cheek teeth, and the prevalence of fissures. MAIN LIMITATIONS: No dental histories were available. CONCLUSION: Equine cheek teeth show a high prevalence of occlusal fissures. Despite some evidence of predilection sites on the tooth surface that might indicate a mechanical aetiology for these lesions, no associations were found with wear abnormalities or occlusal angles of affected cheek teeth. Further histological and ultrastructural studies are warranted to elucidate their aetiology and possible role in other dental diseases. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1111/evj.12828

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[PMID]: 29181461
[Au] Autor:Chandrasekaran B; Suresh N; Muthusamy S
[Ti] Title:Platelet-Rich Fibrin with Bone Grafts for Regeneration of Bony Defect following Extraction of Supernumerary Teeth: A Case Report.
[So] Source:Chin J Dent Res;20(4):231-234, 2017.
[Is] ISSN:1462-6446
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Supernumerary teeth are hyperdontic variants due to abnormalities during tooth development. Here, we report a case on regeneration of bony defect, which ensued following extraction of two supernumerary teeth in the mandibular premolar region, using a combination of bone grafts and platelet-rich fibrin. To the best of our knowledge, it is the first time synergistic use of biomaterials with bone grafts have been used for this type of management.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Process
[do] DOI:10.3290/j.cjdr.a39223

  4 / 8248 MEDLINE  
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[PMID]: 29384304
[Au] Autor:Ammouche F
[Ti] Title:Possibilités offertes par la rééducation fonctionnelle dans la prise en charge orthodontique préventive et interceptive. [Role of functional rehabilitation in preventive and interceptive orthodontic management].
[So] Source:Sante Publique;29(5):707-709, 2017 Dec 05.
[Is] ISSN:0995-3914
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:Orofacial dysfunction and parafunctions are responsible for many orthodontic abnormalities right from the stage of deciduous teeth.Incisor malocclusion, dental malposition and alveolar arch malformations are the most common abnormalities.Functional rehabilitation for prevention or as part of interceptive orthodontics significantly reduces the risk of appearance or progression of these abnormalities to more extensive malocclusions that are more difficult to manage.Functional rehabilitation consists of re-educating and restoring physiological orofacial functions, such as speech and swallowing, breathing and/or chewing disorders.
[Mh] MeSH terms primary: Malocclusion/therapy
Maxillofacial Development
Orthodontics, Interceptive
[Mh] MeSH terms secundary: Humans
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[Js] Journal subset:IM
[Da] Date of entry for processing:180201
[St] Status:MEDLINE
[do] DOI:10.3917/spub.175.0707

  5 / 8248 MEDLINE  
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[PMID]: 29486687
[Au] Autor:Woody A
[Ad] Address:1 San Diego Animal Dentistry, San Diego, CA, USA.
[Ti] Title:Transposition of Mandibular Molars in a Dog.
[So] Source:J Vet Dent;35(1):35-36, 2018 Mar.
[Is] ISSN:0898-7564
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Tooth transposition is a rare anomaly resulting in the interchanged position of 2 permanent teeth. Etiology of tooth transposition is unclear. In human dentistry, multiple influences are described, and there is strong evidence of a genetic basis. This is the first reported case of tooth transposition in a dog.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Data-Review
[do] DOI:10.1177/0898756417749934

  6 / 8248 MEDLINE  
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[PMID]: 29466627
[Au] Autor:Khan A; Jayanthi M; Gantasala NP; Bhooshan N; Rao U
[Ti] Title:A rapid and efficient protocol for in vitro multiplication of genetically uniform Stevia rebaudiana (Bertoni).
[So] Source:Indian J Exp Biol;54(7):477-481, 2016 Jul.
[Is] ISSN:0019-5189
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Stevia rebaudiana (Bertoni), commonly called candy leaf or sweet leaf, endemic to South America, is an important medicinal plant. As a source of low calorie natural sweetener 'stevoside', it is used in obesity, diabetes, treatment of heartburn and tooth decay, and also serves as a food supplement. Large scale commercial propagation of S. rebaudiana demands a suitable protocol. Here, we propose an improved protocol for in vitro multiplication of S. rebaudiana from nodal explants. In this protocol, the effect of laboratory grade urea on multiple shoot induction from nodal explants was studied. The nodal explants were initially cultured on Murashige and Skoog (MS) basal media for 2 weeks which facilitated the axillary bud break. Further, culturing of these explants on MS medium fortified with 6 benzyl amninopurine (BAP) (2 mg/L) and Naphthalene acetic acid (NAA) (1 mg/L) with and .without urea (5 mg/L) for a period of 40 days revealed maximum shoot production of 44.56 from a single nodal explant in media supplemented with urea as compared to 22.44 without urea. The differences in the number of shoots produced were significant and these shoots readily rooted in MS media with NAA (4 mg/L). Primary and secondary hardening was successful in these plants. There were no visible morphological abnormalities observed in the micropropagated plantlets. Genetic analysis from random samples also revealed that these plants are genetically uniform. The advantage of the present protocol is that the complete process of multiple shoot induction, rooting and hardening could be completed within a period of 6 months as compared to the existing protocols.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  7 / 8248 MEDLINE  
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[PMID]: 29196274
[Au] Autor:Mary P; Servais L; Vialle R
[Ad] Address:Service d'orthopédie et de chirurgie réparatrice de l'enfant, département hospitalo-universitaire maladies musculosquelettiques et innovations thérapeutiques (MAMUTH), hôpital d'enfants Armand-Trousseau, 26, avenue du Dr-A.-Netter, 75571 Paris cedex 12, France. Electronic address: pierre.mary@aphp.fr.
[Ti] Title:Neuromuscular diseases: Diagnosis and management.
[So] Source:Orthop Traumatol Surg Res;104(1S):S89-S95, 2018 Feb.
[Is] ISSN:1877-0568
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD. The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (chiefly, Charcot-Marie-Tooth disease), congenital muscular dystrophies, progressive muscular dystrophies, and Steinert myotonic dystrophy (or myotonic dystrophy type 1). Muscle weakness is a symptom shared by all these conditions. The paediatric orthopaedic surgeon must be familiar, not only with the musculoskeletal system, but also with many other domains (particularly respiratory and cardiac function and nutrition) that may interfere with the treatment and require preoperative management. Good knowledge of the natural history of each NMD is essential to ensure optimal timing of the therapeutic interventions, which must be performed under the best possible conditions in these usually frail patients. Timing is particularly crucial for the treatment of spinal deformities due to paraspinal muscle hypotonia during growth: depending on the disease and natural history, the treatment may involve non-operative methods or growing rods, followed by spinal fusion. A multidisciplinary approach is always required. Finally, the survival gains achieved in recent years increasingly require attention to preparing for adult life, to orthopaedic problems requiring treatment before the patient leaves the paediatric environment, and to the transition towards the adult healthcare system.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180218
[Lr] Last revision date:180218
[St] Status:In-Data-Review

  8 / 8248 MEDLINE  
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[PMID]: 29390414
[Au] Autor:Zhu L; Xie L
[Ad] Address:Ultrasound Department, Sheng Jing Hospital of China Medical University, Shenyang, Liaoning Province, People's Republic of China.
[Ti] Title:Prenatal diagnosis of Joubert syndrome: A case report and literature review.
[So] Source:Medicine (Baltimore);96(51):e8626, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. CASE PRESENTATION: A 22-year-old woman was pregnant at 27 1/7 weeks' gestation with fetal cerebellar vermis hypoplasia. Fetal ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple finally opted to terminate the fetus, which had a normal appearance and growth parameters. The couple also had an AHI1 gene mutation on chromosome 6. CONCLUSIONS: Currently, a diagnosis of JS is commonly made after birth. Fewer cases of prenatal diagnosis by ultrasonography have been made, and they are more liable to be misdirected because of some nonspecial features that also manifest in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on.
[Mh] MeSH terms primary: Abnormalities, Multiple/diagnosis
Adaptor Proteins, Signal Transducing/genetics
Cerebellum/abnormalities
Dandy-Walker Syndrome/diagnosis
Eye Abnormalities/diagnosis
Kidney Diseases, Cystic/diagnosis
Retina/abnormalities
[Mh] MeSH terms secundary: Abnormalities, Multiple/diagnostic imaging
Cerebellum/diagnostic imaging
Dandy-Walker Syndrome/complications
Dandy-Walker Syndrome/diagnostic imaging
Diagnosis, Differential
Eye Abnormalities/complications
Eye Abnormalities/diagnostic imaging
Female
Genetic Counseling
Gestational Age
Humans
Kidney Diseases, Cystic/complications
Kidney Diseases, Cystic/diagnostic imaging
Mutation
Pregnancy
Retina/diagnostic imaging
Ultrasonography, Prenatal
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (AHI1 protein, human); 0 (Adaptor Proteins, Signal Transducing)
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008626

  9 / 8248 MEDLINE  
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[PMID]: 28466468
[Au] Autor:Brown FC; Collett M; Tremblay CS; Rank G; De Camilli P; Booth CJ; Bitoun M; Robinson PJ; Kile BT; Jane SM; Curtis DJ
[Ad] Address:Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic., Australia.
[Ti] Title:Loss of Dynamin 2 GTPase function results in microcytic anaemia.
[So] Source:Br J Haematol;178(4):616-628, 2017 08.
[Is] ISSN:1365-2141
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state. Dnm2 is an essential mediator of clathrin-mediated endocytosis, which is required for the uptake of transferrin (Tf) into red cells for incorporation of haem. Accordingly, we observed significantly reduced Tf uptake by Dnm2 cells, which led to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in Dnm2 mice. This study provides the first in vivo evidence for the requirements of Dnm2 in normal erythropoiesis.
[Mh] MeSH terms primary: Anemia, Hypochromic/genetics
Dynamin II/genetics
Mutation, Missense
[Mh] MeSH terms secundary: Anemia, Hypochromic/blood
Animals
Chromosome Mapping/methods
Disease Models, Animal
Dynamin II/deficiency
Dynamin II/physiology
Endocytosis/genetics
Endocytosis/physiology
Erythrocytes/metabolism
Erythrocytes/pathology
Genotype
High-Throughput Nucleotide Sequencing/methods
Mice, Knockout
Transferrin/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Transferrin); EC 3.6.5.5 (Dynamin II)
[Em] Entry month:1709
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[Js] Journal subset:IM
[Da] Date of entry for processing:170504
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14709

  10 / 8248 MEDLINE  
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[PMID]: 29405938
[Au] Autor:Bloch-Zupan A; Vaysse F
[Ad] Address:Faculté de chirurgie dentaire et institut d'études avancées (USIAS, Institute of Advanced Studies), Université de Strasbourg, 8, rue Sainte-Elisabeth, 67000 Strasbourg, France; Pôle de médecine et chirurgie bucco-dentaires, centre de référence des manifestations odontologiques des maladies rares, O Rares, FMTS, filière Tête-Cou-Dents, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France; Centre européen de recherche en biologie et en médecine (CERBM), institut de génétique et de biologie moléculaire et cellulaire (IGBMC), université de Strasbourg, CNRS UMR 7104, INSERM U964, 1, rue Laurent-Fries, 67404 Illkirch, France; Eastman Dental Institute, UCL, 256, Gray's Inn Rd, London WC1X 8LD, United Kingdom. Electronic address: agnes.bloch-zupan@unistra.fr.
[Ti] Title:Hypophosphatasia: oral cavity and dental disorders.
[So] Source:Arch Pediatr;24(5S2):5S80-5S84, 2017 May.
[Is] ISSN:1769-664X
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Dental anomalies exist in every subtype of hypophosphatasia (HPP), from the most severe to the most moderate, called odontohypophosphatasia. The forms are defined by the age at onset of the initial symptoms. These anomalies affect all dental mineralized tissues from enamel, dentin and cementum to alveolar bone in a gradient proportional to the severity of the disease. Early loss of the deciduous teeth, before 3 years of age, and then possibly of the permanent teeth, is due to an abnormality of the cementum, the tissue attaching the teeth to alveolar bone, and is the most frequent abnormality. Tooth loss is a very important diagnostic sign and needs to be recognized. Patients with HPP need specialized oral and dental care in coordination with the reference and expert centers. The oral and dental signs and their treatment remain poorly known. The recording of the abnormalities and their treatment in a registry is indispensable in order to enhance patient management and oral and dental health.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180206
[Lr] Last revision date:180206
[St] Status:In-Process


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