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Dental genetics

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https://www.readbyqxmd.com/read/28927137/atypical-chronic-myeloid-leukemia-with-isochromosome-x-p10-a-case-report
#1
Masahide Yamamoto, Sayaka Suzuki, Jun-Ichi Mukae, Keisuke Tanaka, Ken Watanabe, Gaku Oshikawa, Tetsuya Fukuda, Naomi Murakami, Osamu Miura
Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). Although recurrent chromosomal and genetic abnormalities are frequently observed in aCML, none are specific to this type of leukemia. The present study reported a case of aCML associated with i(X)(p10), a rare recurrent chromosomal abnormality of hematological malignancy. A 40-year-old female was referred to the Tokyo Medical and Dental University Hospital (Tokyo, Japan) due to slight leukocytosis and anemia...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#2
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28914067/-drugs-and-dosage-forms-as-risk-factors-for-dental-caries
#3
Petra Bořilová Linhartová, Lydie Izakovičová Hollá
Dental caries is a multifactorial disease which, despite a series of preventive measures, remains the most common infectious disease worldwide. Susceptibility or resistance to caries may be a result of the presence of risk or protective factors, genetic predisposition, inappropriate lifestyle associated with education, behavioural and socioeconomic factors. The aim of this review is to highlight the risks associated with the use of some drugs and dosage forms in relation to the formation and development of dental caries...
2017: Ceská a Slovenská Farmacie
https://www.readbyqxmd.com/read/28910727/gene-environment-interaction-does-fluoride-influence-the-reproductive-hormones-in-male-farmers-modified-by-er%C3%AE-gene-polymorphisms
#4
Qiang Ma, Hui Huang, Long Sun, Tong Zhou, Jingyuan Zhu, Xuemin Cheng, Lijv Duan, Zhiyuan Li, Liuxin Cui, Yue Ba
The occurrence of endemic fluorosis is derived from high fluoride levels in drinking water and industrial fumes or dust. Reproductive disruption is also a major harm caused by fluoride exposure besides dental and skeletal lesions. However, few studies focus on the mechanism of fluoride exposure on male reproductive function, especially the possible interaction of fluoride exposure and gene polymorphism on male reproductive hormones. Therefore, we conducted a cross-sectional study in rural areas of Henan province in China to explore the interaction between the estrogen receptor alpha (ERα) gene and fluoride exposure on reproductive hormone levels in male farmers living in the endemic fluorosis villages...
September 8, 2017: Chemosphere
https://www.readbyqxmd.com/read/28902892/neanderthal-and-denisova-tooth-protein-variants-in-present-day-humans
#5
Clément Zanolli, Mathilde Hourset, Rémi Esclassan, Catherine Mollereau
Environment parameters, diet and genetic factors interact to shape tooth morphostructure. In the human lineage, archaic and modern hominins show differences in dental traits, including enamel thickness, but variability also exists among living populations. Several polymorphisms, in particular in the non-collagenous extracellular matrix proteins of the tooth hard tissues, like enamelin, are involved in dental structure variation and defects and may be associated with dental disorders or susceptibility to caries...
2017: PloS One
https://www.readbyqxmd.com/read/28887722/dental-anomalies-in-pediatric-patients-with-familial-adenomatous-polyposis
#6
Seth Septer, Brenda Bohaty, Robin Onikul, Vandana Kumar, Karen B Williams, Thomas M Attard, Craig A Friesen, Lynn Roosa Friesen
Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28887419/oxidative-stressors-modify-the-response-of-streptococcus-mutans-to-its-competence-signal-peptides
#7
Matthew De Furio, Sang Joon Ahn, Robert A Burne, Stephen J Hagen
The dental caries pathogen Streptococcus mutans is continually exposed to several types of stress in the oral biofilm environment. Oxidative stress generated by reactive oxygen species has a major impact on the establishment, persistence and virulence of S. mutans. Here, we combined fluorescent reporter-promoter fusions with single-cell imaging to study the effects of reactive oxygen species on activation of genetic competence in S. mutans Exposure to paraquat, which generates superoxide anion, produced a qualitatively different effect on activation of expression of the gene for the master competence regulator, ComX, than did treatment with hydrogen peroxide (H2O2), which can yield hydroxyl radical...
September 8, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#8
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28853514/-effect-of-maternal-health-and-prenatal-environmental-exposure-factors-on-tooth-development
#9
Wan Mian, Zhou Xuedong, Zheng Liwei
Odontogenesis is a consequence of a complex series of reciprocal signal interactions between odontogenic epithelium and neural crest-derived odontotgenic mesenchyme. These interactions result from a complex interplay of genetic and environmental factors. Given that a fetus develops in the mother, maternal health and environmental exposures have a great influence on tooth development. In this review, we focused on the key issues in the developmental defects of teeth induced by various types of maternal environmental factors, including environmental endocrine disruptors, joint action of two or more chemical exposures, and maternal health status...
August 1, 2017: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28836540/gingival-fibromatosis-with-hypertrichosis-syndrome-case-series-of-rare-syndrome
#10
Preetha Balaji, S M Balaji
Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation...
July 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28833715/exploring-the-association-between-genetic-and-environmental-factors-and-molar-incisor-hypomineralization-evidence-from-a-twin-study
#11
Rafael José Pio Barbosa Teixeira, Natália Silva Andrade, Lisanca Carvalho Cavalcante Queiroz, Fausto Medeiros Mendes, Marcoeli Silva Moura, Lúcia de Fátima Almeida de Deus Moura, Marina Deus Moura Lima
BACKGROUND: The etiology of molar-incisor hypomineralization (MIH) remains unknown. Studies indicate that it is multifactorial, and that genetic and environmental factors are involved. Research with twins provides important subsidy to investigate the Influence of genetics and environmental factors that act during pregnancy on the etiology of alterations. AIM: This cross-sectional study evaluated the agreement of molar incisor hypomineralization (MIH) between monozygotic and dizygotic twin pairs and the association with environmental factors...
August 22, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/28832922/heritability-and-genetic-integration-of-tooth-size-in-the-south-carolina-gullah
#12
Christopher M Stojanowski, Kathleen S Paul, Andrew C Seidel, William N Duncan, Debbie Guatelli-Steinberg
OBJECTIVES: This article provides estimates of narrow-sense heritability and genetic pleiotropy for mesiodistal tooth dimensions for a sample of 20th century African American individuals. Results inform biological distance analysis and offer insights into patterns of integration in the human dentition. MATERIALS AND METHODS: Maximum mesiodistal crown dimensions were measured using Hillson-FitzGerald calipers on 469 stone dental casts from the Menegaz-Bock Collection...
August 19, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28829932/amelogenesis-imperfecta-case-study
#13
C Leevailoj, S Lawanrattanakul, K Mahatumarat
Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and that are passed down through families as a dominant trait. This condition is characterized by abnormal enamel formation caused by gene mutations that alter the quality and/or quantity of enamel. This dental problem can impact both primary and permanent dentition, varies among affected individuals, and results in esthetic and functional problems. This condition caused the patient in the current case report to have a lack of confidence when speaking...
September 2017: Operative Dentistry
https://www.readbyqxmd.com/read/28807049/oral-manifestations-dental-management-and-a-rare-homozygous-mutation-of-the-prdm12-gene-in-a-boy-with-hereditary-sensory-and-autonomic-neuropathy-type-viii-a-case-report-and-review-of-the-literature
#14
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28805207/periodontal-diseases
#15
REVIEW
Denis F Kinane, Panagiota G Stathopoulou, Panos N Papapanou
Periodontal diseases comprise a wide range of inflammatory conditions that affect the supporting structures of the teeth (the gingiva, bone and periodontal ligament), which could lead to tooth loss and contribute to systemic inflammation. Chronic periodontitis predominantly affects adults, but aggressive periodontitis may occasionally occur in children. Periodontal disease initiation and propagation is through a dysbiosis of the commensal oral microbiota (dental plaque), which then interacts with the immune defences of the host, leading to inflammation and disease...
June 22, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28797219/unresolving-trismus-following-third-molar-surgery-report-of-a-case-of-fibrodysplasia-ossificans-progressiva-with-review-of-literature
#16
B R Rajanikanth, Kavitha Prasad, K Vineeth, Sushma M N Sonale, Khuteja Al-Kubra
BACKGROUND: Trismus is a problem commonly encountered by the dental practitioner. It has a number of potential causes, and its treatment will depend on the cause. However, there are very few reports of trismus due to fibrodysplasia ossificans progressiva (FOP) following third molar surgery. CLINICAL PRESENTATION: FOP is a rare human genetic disorder with characteristic clinical features like progressive formation of extraskeletal bone or heterotopic ossification and congenital malformation of the great toes...
August 11, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28797211/disulfide-bonds-a-key-modification-in-bacterial-extracytoplasmic-proteins
#17
S F Lee, L Davey
Disulfide bonds are a common posttranslational modification that contributes to the folding and stability of extracytoplasmic proteins. Almost all organisms, from eukaryotes to prokaryotes, have evolved enzymes to make and break these bonds. Accurate and efficient disulfide bond formation can be vital for protein function; therefore, the enzymes that catalyze disulfide bond formation are involved in multiple biological processes. Recent advances clearly show that oral bacteria also have the ability to from disulfide bonds, and this ability has an effect on a range of dental plaque-related phenotypes...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28780202/tailor-made-ge-doped-silica-glass-for-clinical-diagnostic-x-ray-dosimetry
#18
Amjad Alyahyawi, T Jupp, M Alkhorayef, D A Bradley
In the modern clinical practice of diagnostic radiology there is a growing demand for radiation dosimetry, it also being recognized that with increasing use of X-ray examinations additional population dose will result, accompanied by an additional albeit low potential for genetic consequences. At the doses typical of diagnostic radiology there is also a low statistical risk for cancer induction; in adhering to best practice, to be also implied is a low but non-negligible potential for deterministic sensitive organ responses, including in regard to the skin and eyes...
July 22, 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/28767261/-health-maps-of-a-historical-population-in-nineteenth-century-friuli-northeastern-italy
#19
Alessio Fornasin, Marco Breschi, Matteo Manfredini
This paper aims at presenting some health maps of a historical population. The studies on the health status of past populations are usually focused on the causes of death. Our purpose is to present some descriptive analyses on non-deadly diseases. The present work focuses on the province of Friuli (north-eastern Italy) in the second half of the nineteenth century. The used sources are military call-up records. We collected about 300,000 records relative to military recruitment that took place between 1866 and 1909 (birth cohorts 1846-1890)...
June 2017: Acta Medico-historica Adriatica: AMHA
https://www.readbyqxmd.com/read/28760894/first-detailed-genetic-characterization-of-the-structural-organization-of-type-iii-arginine-catabolic-mobile-elements-acmes-harbored-by-staphylococcus-epidermidis-using-whole-genome-sequencing
#20
Brenda A McManus, Aoife M O'Connor, Peter M Kinnevey, Michael O'Sullivan, Ioannis Polyzois, David C Coleman
The type III arginine catabolic mobile element (ACME) was detected in three Staphylococcus epidermidis oral isolates recovered from separate patients (one healthy, one healthy with dental implants and one with periodontal disease) based on ACME-arc operon and -opp3 operon directed PCR. These isolates were subjected to whole genome sequencing to characterize the precise structural organization of ACME III for the first time and also revealed that all three isolates were the same sequence type, ST329.
July 31, 2017: Antimicrobial Agents and Chemotherapy
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