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https://www.readbyqxmd.com/read/28722276/identification-and-functional-analysis-of-an-adamtsl1-variant-associated-with-a-complex-phenotype-including-congenital-glaucoma-craniofacial-and-other-systemic-features-in-a-three-generation-human-pedigree
#1
Kathryn Hendee, Lauren Weiping Wang, Linda M Reis, Gregory M Rice, Suneel S Apte, Elena V Semina
Developmental glaucoma can occur as an isolated or syndromic condition and is genetically heterogeneous. We describe a three-generation family affected with developmental glaucoma, myopia, and/or retinal defects associated with variable craniofacial/dental, auditory, brain, renal, and limb anomalies. Whole exome sequencing identified a heterozygous c.124T> C, p.(Trp42Arg) allele in ADAMTSL1; co-segregation analysis confirmed the presence of this allele in four affected family members. The mutation affects a highly conserved residue and is strongly predicted to have a deleterious effect on protein function...
July 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28713106/prevalence-of-dental-anomalies-in-odisha-population-a-panoramic-radiographic-study
#2
Balasubramanya Goutham, Lipsa Bhuyan, Sangamesh N Chinnannavar, Madhurima Kundu, Kunal Jha, Shyam S Behura
AIM: The aim of this study was to evaluate the prevalence of dental anomalies (DAs) in Odisha population using panoramic radiographs. MATERIALS AND METHODS: In this study, 1,080 panoramic radiographs were evaluated for DAs. Dental records were reviewed for diagnostic confirmation. Anomalies related to the shape, size, position of teeth, and number of roots (supernumerary roots) were evaluated. RESULTS: The study results showed the prevalence of DAs to be 35...
July 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28711894/-markers-of-dental-children-s-health-in-the-application-of-therapeutic-orthodontic-equipment
#3
Аліса В Пачевська, Аліна В Білошицька
INTRODUCTION: Treatment of teeth anomalies using removable and non-removable orthodontic devices in children leads to complications such as caries, gingivitis, periodontitis, oral mucosa hyperplasia. Etiopathogenetical of these diseases can be associated with biochemical changes in the composition of saliva. AIM: To determine the activity of lysozyme and amylase in oral fluid in children when using a fixed and removable orthodontic devices. MATERIALS AND METHODS: Amylase and lysozyme were studied in oral fluid...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28710202/a-motivational-interview-intervention-delivered-at-home-to-improve-the-oral-health-literacy-and-reduce-the-morbidity-of-chilean-disadvantaged-families-a-study-protocol-for-a-community-trial
#4
Ricardo Cartes-Velasquez, Carlos Araya, Raúl Flores, Luis Luengo, Francisca Castillo, Alex Bustos
INTRODUCTION: Oral health education/promotion interventions have been identified as cost-efficient tools to improve the oral health of the population. These interventions are regularly made in contexts where the target population is captive, for example, in health centres. In Chile, there are no oral health interventions delivered at home. METHODS AND ANALYSIS: This community trial covers two disadvantaged urban areas in the province of Concepción. Both sectors have public preschool education coverage with a traditional programme (TP) to promote oral health...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28681357/a-cross-sectional-analysis-of-the-prevalence-of-tooth-agenesis-and-structural-dental-anomalies-in-association-with-cleft-type-in-non-syndromic-oral-cleft-patients
#5
Dimitrios Konstantonis, Alexandros Alexandropoulos, Nikoleta Konstantoni, Maria Nassika
BACKGROUND: The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. METHODS: Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables...
December 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/28662344/oral-and-craniofacial-anomalies-of-bardet-biedl-syndrome-dental-management-in-the-context-of-a-rare-disease
#6
A Panny, I Glurich, R M Haws, A Acharya
Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental anomalies are present in a majority of individuals affected by BBS due to abnormal embryonic orofacial and tooth development. Genetically encoded intrinsic oral structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities confound oral health management...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28622400/prevalence-of-malocclusion-and-distribution-of-occlusal-characteristics-in-13-to-18-year-old-adolescents-attending-selected-high-schools-in-the-municipality-of-san-juan-pr-2012-2013
#7
Karla Alvarado, Lydia López, Rosana Hanke, Francis Picón, Sona Rivas-Tumanyan
OBJECTIVE: A cross-sectional study was conducted (2012-2013) to evaluate the prevalence of 1) malocclusion and 2) occlusal characteristics in 13- to 18-yearold adolescents in San Juan, Puerto Rico (PR) from selected high schools in the municipality of San Juan. METHODS: The study sample consisted of 155 adolescents. The University of Puerto Rico's IRB approved the study and consent and assent were completed for or by each participant, as applicable. A calibrated dentist performed a single-visit dental evaluation at each school...
June 2017: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#8
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28598258/the-epidemiology-of-supernumerary-teeth-and-the-associated-molecular-mechanism
#9
Xi Lu, Fang Yu, Junjun Liu, Wenping Cai, Yumei Zhao, Shouliang Zhao, Shangfeng Liu
Supernumerary teeth are common clinical dental anomalies. Although various studies have provided abundant information regarding genes and signalling pathways involved in tooth morphogenesis, which include Wnt, FGF, BMP, and Shh, the molecular mechanism of tooth formation, especially for supernumerary teeth, is still unclear. In the population, some cases of supernumerary teeth are sporadic, while others are syndrome-related with familial hereditary. The prompt and accurate diagnosis of syndrome related supernumerary teeth is quite important for some distinctive disorders...
June 9, 2017: Organogenesis
https://www.readbyqxmd.com/read/28598182/masticatory-parameters-of-children-with-and-without-clinically-diagnosed-caries-in-permanent-dentition
#10
M S Kaya, S Akyuz, B Guclu, D Diracoglu, A Yarat
AIM: Mastication turns food into a bolus and prepares it for chemical digestion. Any condition affecting tooth structure and position may have an impact on mastication. The aim of this study is to compare masticatory performance (MP) and maximum bite force (MBF) between children with and without clinically visible caries in permanent first molars. MATERIALS AND METHODS: The study was conducted with 50 children in good general condition aged 12-14 years (25 girls, 25 boys) with no orthodontic/skeletal anomalies and no missing teeth due to dental trauma or extraction...
June 2017: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28598178/multidisciplinary-approach-to-the-treatment-of-double-bilateral-upper-permanent-incisors-in-a-young-boy
#11
G F Ferrazzano, P Festa, T Cantile, V D'Antò, A Ingenito, R Martina
BACKGROUND: A double tooth is a rare developmental anomaly referring to the fusion of two adjacent tooth buds or the gemination of a single bud. CASE REPORT: This case report describes the multidisciplinary approach to an 11-year-old patient with two double upper permanent incisors. The clinical intraoral examination showed a mixed dentition with bilateral double maxillary central incisors, molar Class I malocclusion and palatal ectopy of two lateral upper incisors...
June 2017: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28589475/cleft-palate-with-without-cleft-lip-in-french-children-radiographic-evaluation-of-prevalence-location-and-coexistence-of-dental-anomalies-inside-and-outside-cleft-region
#12
Francesca Mangione, Laure Nguyen, Nathalie Foumou, Emmanuelle Bocquet, Elisabeth Dursun
INTRODUCTION: Prevalence of dental anomalies in cleft patients is higher than that in general population. The objectives of this study were to assess the prevalence of dental anomalies and their coexistence in French children with cleft and, then, to investigate the relation between the dental anomalies and the cleft type. MATERIAL AND METHODS: Seventy-four non-syndromic cleft patients (6-16 years old) from Lille Regional University and Mondor-Chenevier Hospitals (France) were included...
June 7, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28586579/exploration-of-variations-in-positions-of-upper-and-lower-incisors-overjet-overbite-and-irregularity-index-in-orthodontic-patients-with-dissimilar-depths-of-curve-of-spee
#13
Nita Kumari, Mubassar Fida, Attiya Shaikh
BACKGROUND: The position and arrangement of teeth as well as the entire scheme of occlusion differs from one individual to the other .The purpose of this study was to examine differences in position and inclination of incisors, overjet, overbite and lower arch crowding in subjects with different depths of curve of Spee and to determine correlations between depth of curve of Spee and these variables. METHODS: The sample comprised of 114 patients (55 females and 59 males) with fully erupted permanent second molars (age 12-25 years), having no history of previous orthodontic treatment, no craniofacial anomalies, and no missing permanent teeth...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28584484/dental-records-of-forensic-odontological-importance-maintenance-pattern-among-dental-practitioners-of-pune-city
#14
Gargi S Sarode, Sachin C Sarode, Shakira Choudhary, Shankargouda Patil, Rahul Anand, Himadri Vyas
CONTEXT: Forensic odontology plays a pivotal role in the identification of victims in mass disasters with the help of "Preserved dental records" available with the general dental practitioners (GDPs). However, the status of such dental records of forensic importance has not been studied extensively. AIM: To study the current status of awareness and practice of dental record maintenance by GDPs of Pune. MATERIALS AND METHODS: A cross-sectional study was conducted among 100 randomly selected GDPs from Pune...
January 2017: Journal of Forensic Dental Sciences
https://www.readbyqxmd.com/read/28570399/canine-eruption-after-secondary-alveolar-bone-graft-in-unilateral-cleft-lip-and-palate-patients
#15
Valentino Vellone, Giulio Cirignaco, Bruno Cavarretta, Piero Cascone
PURPOSE: The aim of this article is to analyze dental abnormalities in unilateral cleft lip and palate patients by focusing on the role of the secondary alveolar bone graft (SABG) surgery and its outcomes on canine eruption/inclusion. MATERIALS AND METHODS: A sample of 24 patients with unilateral cleft lip and palate were selected.Dental anomalies, canine eruption based on the existence of supernumeraries, agenesis elements, inclination of the major canine axis before and after surgery, distance from the occlusal plane before and after surgery, and sector classification were analyzed...
May 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28557584/nhs-gene-mutations-in-ashkenazi-jewish-families-with-nance-horan-syndrome
#16
Nadav Shoshany, Isaac Avni, Yair Morad, Chen Weiner, Adi Einan-Lifshitz, Eran Pras
PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. RESULTS: An unusual anterior Y-sutural cataract was documented in the affected male proband...
May 30, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#17
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28535364/dental-decay-phenotype-in-nonsyndromic-orofacial-clefting
#18
B J Howe, M E Cooper, G L Wehby, J M Resick, N L Nidey, L C Valencia-Ramirez, A M Lopez-Palacio, D Rivera, A R Vieira, S M Weinberg, M L Marazita, L M Moreno Uribe
Although children with oral clefts have a higher risk for dental anomalies when compared with the general population, prior studies have shown conflicting results regarding their dental decay risk. Also, few studies have assessed dental decay risk in unaffected relatives of children with clefts. Thus, the question of increased risk of dental decay in individuals with oral clefts or their unaffected relatives is still open for empirical investigation. This study characterizes dental decay in the largest international cohort to date of children with nonsyndromic clefts and their relatives, as compared with controls, and it addresses whether families with oral clefts have a significantly increased risk for dental decay versus the general population...
May 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28509361/prevalence-of-dental-developmental-anomalies-of-permanent-teeth-in-children-and-their-influence-on-esthetics
#19
Anita Fekonja
OBJECTIVE: The aim of this study was to determine the prevalence of dental developmental anomalies in permanent teeth and their influence on esthetics. MATERIALS AND METHODS: The records of 473 subjects, which comprised of orthopantomograms, clinical examination, and anamnestic data, were explored for dental developmental anomalies. Subjects with dental anomalies completed the modified questionnaire. Data on reasons for seeking the treatment as well as factors affecting the patients' satisfaction were collected...
May 16, 2017: Journal of Esthetic and Restorative Dentistry
https://www.readbyqxmd.com/read/28480847/microbiological-aspects-of-the-orthodontic-treatment
#20
A Zharmagambetova, S Tuleutayeva, S Akhmetova, A Zharmagambetov
An orthodontic appliance in the mouth worsens conditions for its self-cleaning, complicates the teeth care and makes an environment favorable to the soft tooth deposit, in turn, leads to the teeth enamel demineralization. In literature, the majority of works are devoted to the study of the microbial landscape with fixed orthodontic treatment. Despite the obvious relevance, the formation problem of opportunistic and pathogenic microorganisms when treating dentoalveolar anomalies with a removable orthodontic appliance remains understudied...
March 2017: Georgian Medical News
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