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Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report. 毛发综合征患者使用超纳米填充树脂进行上前区口腔美学修复:病例报告。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-02-20 DOI: 10.1111/scd.12979
Patricia Nataly Conto Quispe, Akemy Celeste Tapia Martinez, Henry Jesús Vilcapoma Guerra, Lenny Lavado García, Gilmer Torres Ramos

Background: Woolly Hair Syndrome (WHS) is a rare birth condition that affects the structure of hair in non-black people. The pathogenesis is not yet defined. It is postulated that the hair follicle's desmosomes (specifically desmoplaquine, placoglobin and placofilin-1, which are cell structural proteins that keep the adhesion among close cells) would be altered in this pathology, leading to fragility in the cellular union. It is subdivided into two large groups: the localized or circumscribed variant and the generalized variant. From birth or first months of life, patients with WHS are clinically characterized by the presence of a portion or entire scalp area of very short frizzy hair, usually of a smaller diameter, brittle and lighter color. The most frequent skin manifestations are pilar keratosis and palmo-plantar keratodermia. The diagnosis is based on the clinical findings, and it is facilitated by trichotoscopic examination. However, a definitive diagnosis of WHS requires genetic testing. Oral agenesis, enamel defects (such as hypomineralization), atypical caries, dental inclusion, and malformed pin-shaped teeth may occur.

Objective: To describe an aesthetic alternative of oral rehabilitation using the mock-up technique in a patient with WHS.

Clinical case: A 5-year-old female patient diagnosed with WHS from the National Institute of Child Health NIHCH: Breña, Lima, who was referred from the Genetic service to the Pediatric Dentistry service in order to screen outbreaks of infection associated with odontogenic origin and dental anomalies. At the ectoscopy, a patient with short capillary length, brittle and curly hair, dry skin, and nail dystrophy was observed. At the intraoral clinical examination, anterior pieces of 52, 51, 61, 62, and enamel hypomineralization were observed in all teeth. The radiographic examination showed agenesis of parts 41, 34, and 45. Integral dental treatment was performed in the operating room under general anesthesia due to the complexity of the case. Pulpectomy in pieces 52, 51, 61, 62, post of composite resin, and rehabilitation with supra-nanow filling resin using the mock-up technique were proposed as alternative treatments.

Conclusion: The making of supra-nano filling resin-based crowns using the mock-up technique is an alternative treatment for aesthetic oral rehabilitation in deciduous dentition of patients with WHS. The aesthetic treatment was achieved using supra nano-filling resins. After 12 months of dental treatment, a favorable response was observed, improving the chewing, phonation and aesthetics of the patient.

背景介绍毛发综合症(WHS)是一种罕见的先天性疾病,会影响非黑人的毛发结构。其发病机制尚未明确。据推测,毛囊中的脱绒毛体(特别是脱绒毛素、胎盘蛋白和胎盘素-1,它们是细胞结构蛋白,可保持紧密细胞间的粘附性)在这种病症中会发生改变,导致细胞结合脆弱。这种病症又可细分为两大类:局部或环状变异型和全身变异型。从出生或出生后的头几个月开始,WHS 患者的临床特征就是部分或整个头皮出现非常短的卷曲头发,通常直径较小、质地较脆、颜色较浅。最常见的皮肤表现是毛囊角化症和掌跖角化症。诊断以临床表现为基础,并通过毛发镜检查加以辅助。然而,WHS 的确诊需要进行基因检测。可能会出现口腔发育不全、釉质缺损(如矿化不足)、非典型龋、牙包涵体和畸形针状牙:临床病例:利马布雷尼亚国家儿童健康研究所(NIHCH:Breña, Lima)的一名 5 岁女性患者被诊断患有 WHS,该患者由遗传科转诊至儿童牙科,以筛查与牙源性感染和牙齿畸形相关的爆发性感染。在口腔外窥镜检查中,发现患者毛细血管长度短、头发脆而卷、皮肤干燥、指甲营养不良。口腔内临床检查发现,所有牙齿都有前牙52、51、61、62和釉质矿化不足。放射检查显示,41、34 和 45 号牙齿部分缺失。由于病例复杂,牙科综合治疗在手术室全身麻醉下进行。作为替代治疗方法,建议对 52、51、61 和 62 号牙进行牙槽骨切除术,植入复合树脂,并采用模拟技术用超微纳米填充树脂进行修复:结论:使用模拟技术制作超纳米填充树脂牙冠,是对 WHS 患者乳牙进行口腔美学修复的一种替代治疗方法。使用超纳米填充树脂实现了美学治疗。经过 12 个月的牙科治疗后,患者的咀嚼、发音和美观都得到了改善。
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引用次数: 0
Detection of Frank's sign in the dental setting: A population-based cohort study. 牙科环境中的弗兰克氏征检测:基于人群的队列研究
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-02-28 DOI: 10.1111/scd.12975
Berta Rivas-Mundiña, Lucía Fernández-Ascariz, Eliane García-Mato, Marcio Diniz-Freitas, Francisco Gude-Sampedro, Maite Abeleira-Pazos

Background: In 1973, Saunders T. Frank described the diagonal earlobe crease (DELC) as a potential marker of cardiovascular disease. However, this anatomical finding is not routinely examined. The aim of this study was to assess the presence of this crease in the general population attending a dental setting and describe its anatomical variations to be able to categorize it as a physical sign.

Methodology: A study group of 1050 white adults were selected, as participants in the framework of the "A Estrada Study of Glycation and Inflammation" (AEGIS), a cross-sectional, population-based descriptive study of a representative sample of the general adult population of the municipality of A Estrada (Pontevedra, Spain). Each participant's age, sex, and preferred head position when sleeping were recorded. Both earlobes were visually inspected and the anatomical variables of the crease were recorded (unilateral or bilateral, length, depth, and presence of secondary creases). The relationship between the study variables was analyzed using the chi-squared test, Student's t-test, the analysis of variance (ANOVA), and the nonparametric tests of Mann-Whitney and Kruskal-Wallis.

Results: The DELC was observed in 65.2% of the participants. In 71.5% of the cases, the sign was complete (occupying the space from the tragus to the posterior edge of the earlobe); in 56.9% of the cases, the sign was bilateral; in 45.1% of the cases it was deep; and in the 43.6% of the cases, accessory creases were identified. Neither sex nor the habitual head position when sleeping were related to the prevalence or characteristics of the DELC. The prevalence, extent and depth of Frank's sign increased significantly with age (p < .001).

Conclusion: The prevalence of the DELC increases significantly with age, and its morphological characteristics are accentuated. This finding, therefore, gains special relevance as a marker of potential cardiovascular disease when observed in young adults.

背景:1973 年,桑德斯-弗兰克(Saunders T. Frank)将对角线耳垂皱襞(DELC)描述为心血管疾病的潜在标志。然而,这一解剖学发现并未得到常规检查。本研究的目的是评估在牙科就诊的普通人群中是否存在这种皱褶,并描述其解剖学变化,以便将其归类为一种体征:在 "阿埃斯特拉达糖化和炎症研究"(AEGIS)框架内,选取了 1050 名白人成年人作为研究对象,该研究是对阿埃斯特拉达市(西班牙庞特韦德拉)普通成年人的代表性样本进行的一项横断面人群描述性研究。研究人员记录了每位参与者的年龄、性别和睡觉时喜欢的头部姿势。对双侧耳垂进行目测,并记录耳垂皱褶的解剖变量(单侧或双侧、长度、深度以及是否存在次级皱褶)。研究变量之间的关系采用卡方检验、学生 t 检验、方差分析(ANOVA)以及 Mann-Whitney 和 Kruskal-Wallis 等非参数检验进行分析:65.2%的参与者出现了 DELC。在 71.5%的病例中,该体征是完整的(占据了从耳廓到耳垂后缘的空间);在 56.9%的病例中,该体征是双侧的;在 45.1%的病例中,该体征是深的;在 43.6%的病例中,发现了附属皱褶。性别和睡眠时的习惯头位均与 DELC 的发生率或特征无关。弗兰克征的发生率、范围和深度随年龄的增长而显著增加(p 结论:弗兰克征的发生率、范围和深度随年龄的增长而显著增加:随着年龄的增长,DELC 的患病率明显增加,其形态特征也更加明显。因此,这一发现在青壮年中作为潜在心血管疾病的标志物具有特殊意义。
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引用次数: 0
Human diprosopus: Case report of a rare congenital abnormality. 人类双顶畸形:罕见先天性畸形的病例报告。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-03-04 DOI: 10.1111/scd.12991
Maria Teresa Vasconcelos de Melo Pontes, Raiane Machado Maia, Luís Cândido Pinto da Silva, Flávio Ricardo Manzi, Izabella Lucas de Abreu Lima

Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9-year-old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case.

双颅骨畸形是一种先天性畸形,即颅面结构部分或完全重复。由于这种畸形非常罕见,因此死亡率很高,有关这种畸形的资料也很少。本研究描述了一例 9 岁男性的人类双颅骨畸形病例,他患有严重的中枢神经、心血管、呼吸和消化系统并发症。自出生以来,他一直在专科医院接受监护,并接受了多次手术和多学科治疗。在颅颌面方面,他的胼胝体、鼻腔底和前颅窝底发育不良,此外还有骨发育不良、眼球突出、腭裂伴鼻腔和口腔畸胎瘤。在牙齿特征方面,患者的上颌骨、下颌骨、舌头和一些牙齿都有重复。经过辅助影像学检查,发现了几颗多余的牙齿,其中一些牙齿有撞击,而且位于复杂的区域,由于存在撞击、虹吸偏位、牙根吸收以及相关囊肿或肿瘤病变的风险,因此有拔除的指征。由于并发症较多,整个团队必须具备相关知识并做好准备,才能正确处理该病例。
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引用次数: 0
Bone pattern changes in post liver transplant patients using bisphosphonates. 使用双膦酸盐的肝移植术后患者的骨形态变化。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-03-14 DOI: 10.1111/scd.12992
Marcus Vinícius Bueno, Luciana Munhoz, Karem L Ortega, Maria Paula Siqueira de Melo Peres, Juliana Bertoldi Franco

Objective: To identify radiographic findings suggestive of drug-induced osteonecrosis and evaluate radiomorphometric patterns indicative of changes in bone mineral density in individuals transplanted for liver disorders using bisphosphonates.

Study design: The study group included panoramic x-rays of liver transplant patients who are being monitored and who present a clinical status of osteoporosis and use bisphosphonates. The control group was made up of liver transplant patients who did not have osteoporosis. On panoramic radiographs, mental index (MI) and mandibular cortical index (MCI) and the presence of radiographic anomalies suggestive of osteonecrosis were evaluated.

Results: There were significant statistical results when comparing the groups in relation to the decrease in bone mineral density (BMD) with MCI-C3 (p = 0.036), however, there were none in relation to MI (p = 0.14). There were no valid statistical results when relating MCI (p = 0.94) and MI (p = 0.66) with reduced BMD and use of bisphosphonates.

Conclusion: Liver transplant individuals using bisphosphonates present greater radiographic signs of bone sclerosis suggestive of a greater propensity to develop osteonecrosis of the jaw and an increased risk of presenting changes suggestive of reduced bone mineral density on panoramic radiographs when compared to liver transplant individuals not using bisphosphonates.

研究目的确定提示药物性骨质疏松症的影像学发现,并评估提示使用双膦酸盐的肝脏疾病移植患者骨矿密度变化的放射形态学模式:研究组包括正在接受监测、临床表现为骨质疏松症并使用双膦酸盐的肝移植患者的全景 X 光片。对照组由没有骨质疏松症的肝移植患者组成。在全景X光片上,对精神指数(MI)和下颌骨皮质指数(MCI)以及是否存在提示骨坏死的影像学异常进行了评估:各组间比较,MCI-C3 组的骨矿物质密度(BMD)下降有明显的统计学意义(P = 0.036),而 MI 组则没有明显的统计学意义(P = 0.14)。当MCI(p = 0.94)和MI(p = 0.66)与骨密度降低和使用双膦酸盐有关时,没有有效的统计结果:结论:与未使用双膦酸盐的肝移植患者相比,使用双膦酸盐的肝移植患者出现骨硬化的影像学征象更多,这表明他们更倾向于发生颌骨坏死,而且在全景X光片上出现提示骨矿密度降低的变化的风险也更高。
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引用次数: 0
Ageism scale for dental students (ASDS): A focus group review of content validity. 牙科学生年龄歧视量表(ASDS):焦点小组对内容有效性的审查。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-01-12 DOI: 10.1111/scd.12960
Kendall Elliott, Kimberly C Dukes, Patrick B Barlow, Anastassia Kossioni, Leonardo Marchini

Purpose/aim: Improve content validity of the Ageism Scale for Dental Students (ASDS) and identify barriers to using the scale.

Methods: Thematic analysis of transcripts of three purposively sampled focus groups of 1) geriatric dentistry specialists, 2) older adult dental patients, and 3) dental students.

Results: Twenty-five participants engaged in focus groups. No new concepts to define ageism were identified. Experts found the scale acceptable and appropriate, yet they raised specific potential revisions to scale questions. Commonly reported themes already addressed by ASDS included the importance of tailoring decision-making to patient preference and not making assumptions about older adults' capacity or preferences for dental care. Barriers to identifying ageism or using the scale included experiential differences in interpreting scale items, cultural differences in attitudes towards older adults, and potential overlap with social determinants of health. Secondary findings include recommendations for older-adult focused training for dental students to provide positive, concrete guidance on caring for older adults.

Conclusion: There are opportunities to refine the Ageism Scale for Dental Students and to allow tailoring of the scale for specific national or cultural contexts.

目的/宗旨:提高牙科学生年龄歧视量表(ASDS)的内容有效性,并确定使用该量表的障碍:方法:对三个有目的抽样的焦点小组的记录进行主题分析,焦点小组成员包括:1)老年牙科专家;2)老年牙科患者;3)牙科学生:结果:25 名参与者参加了焦点小组。没有发现定义年龄歧视的新概念。专家们认为量表是可以接受的,也是合适的,但他们也对量表的问题提出了具体的修改意见。常见的主题包括:根据患者的偏好进行决策的重要性,以及不要对老年人的牙科保健能力或偏好做出假设。识别老龄歧视或使用量表的障碍包括解释量表项目时的经验差异、对老年人态度的文化差异以及与健康的社会决定因素的潜在重叠。次要研究结果包括建议对牙科学生进行以老年人为重点的培训,以提供积极、具体的老年人护理指导:结论:我们有机会完善口腔医学生老龄歧视量表,并根据特定的国家或文化背景对量表进行调整。
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引用次数: 0
Survey on the attitudes and perceptions of Swiss dental practitioners and dental students toward treating patients with disabilities and sensory impairments. 关于瑞士牙科医生和牙科学生对治疗残疾和感官障碍患者的态度和看法的调查。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-03-14 DOI: 10.1111/scd.12988
Lisa Takeshita, Murali Srinivasan

Aims: This study evaluated the attitudes and perceptions of private dental practitioners (PPs) and students on treating patients with disabilities and sensory impairments.

Methods and results: A multifaceted questionnaire was used to assess the participants' attitudes on providing care to persons with disabilities and sensory impairments [visual (VI) and hearing (HI)]. The survey evaluated different aspects of the participants' attitudes that included integrity, altruism, perceived barriers, and theory of planned behavior (TPB). One hundred twenty participants [students: n = 73, practitioners (PP): n = 47), with a mean-age of 27.7 ± 5.3 years, completed the survey (response rate: 100%). Fourth-year students scored better than the PP in integrity (p = .019). For altruism, the students scored better than PPs (vs. fourth-year: p = .009, vs. fifth-year: p = .031). There were no differences between the participant groups for the overall assessments of the TPB (p = .213), VI (p = .863), and HI (p = .261).

Conclusion: Dental practitioners and students revealed a positive attitude, with few barriers, towards treating individuals with disabilities/sensory impairments and considered the training in the field of special care dentistry as a necessary part of the dental education. Furthermore, a demand for an increase in the hands-on practical experience in treating individuals with disabilities/sensory impairments during the undergraduate study curriculum was identified.

目的:本研究评估了私人牙科医生(PPs)和学生对治疗残疾和感官障碍患者的态度和看法:研究使用了一份多方面的调查问卷,以评估参与者对为残障人士和感官障碍人士(视力(VI)和听力(HI))提供护理的态度。调查评估了参与者态度的各个方面,包括诚信、利他主义、感知障碍和计划行为理论(TPB)。120 名参与者(学生:73 人,从业人员(PP):47 人)完成了调查(回复率:100%),平均年龄为 27.7 ± 5.3 岁。大四学生在诚信方面的得分高于从业人员(P = .019)。在利他主义方面,四年级学生的得分高于五年级学生(p = 0.009,p = 0.031)。在TPB (p = .213)、VI (p = .863)和HI (p = .261)的总体评估中,各参与组之间没有差异:牙科医生和学生对治疗残疾人/感官障碍者持积极态度,几乎不存在障碍,并认为特殊护理牙科领域的培训是牙科教育的必要组成部分。此外,还发现在本科学习课程中需要增加治疗残疾人/感官障碍者的实践经验。
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引用次数: 0
Vertical cephalometric characteristics in different populations with Turner syndrome as compared to non-syndromic populations: A meta-analysis. 与非综合征人群相比,特纳综合征不同人群的垂直头测量特征:荟萃分析。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-02-23 DOI: 10.1111/scd.12966
Kara Bierley, Gregory S Antonarakis

Aims: The present aim was to evaluate vertical cephalometric characteristics in populations with Turner syndrome (TS) using meta-analysis methodology.

Methods: Six electronic databases were queried, up to August 2023, to identify studies comparing the vertical cephalometric characteristics in populations with TS, compared to female control groups. Data were extracted from eligible studies and random-effects meta-analysis was employed. Subgroup meta-analyses for age and karyotype were also attempted. Risk of bias was assessed using a modified version of the AXIS tool.

Results: From the initial 195 studies identified, 17 were included in the quantitative synthesis, resulting in a sample of 417 patients with TS, originating from 10 different countries. Risk of bias was overall questionable. Mandibular ramus height was found to be smaller in females with TS, along with a reduction in posterior facial height, a larger anterior-posterior facial height ratio, and an increase in the mandibular plane angle. Subgroup meta-analyses showed that females with the monosomy X karyotype had vertical cephalometric characteristics which deviated more from the norm than those with other karyotypes.

Conclusion: The vertical lateral cephalometric characteristics of females with TS differ significantly from those of non-syndromic females, with the largest and most consistent deviation being seen in the monosomy X karyotype. Females with TS show less craniofacial posterior vertical development, with an evident reduction in mandibular ramus height leading to the cephalometric characteristics observed.

目的:本研究旨在利用荟萃分析方法评估特纳综合征(TS)患者的垂直头形特征:查询了六个电子数据库(截至 2023 年 8 月),以确定比较 TS 患者与女性对照组的垂直头形特征的研究。从符合条件的研究中提取数据,并采用随机效应荟萃分析。此外,还尝试对年龄和核型进行分组荟萃分析。使用改进版的 AXIS 工具对偏倚风险进行了评估:在最初确定的 195 项研究中,有 17 项被纳入定量综述,从而获得了来自 10 个不同国家的 417 名 TS 患者样本。总体而言,偏倚风险值得怀疑。研究发现,患有TS的女性下颌横突高度较小,同时面部后部高度降低,面部前后高度比增大,下颌平面角度增大。分组荟萃分析表明,与其他核型的女性相比,单体X核型女性的垂直头形特征偏离正常值的程度更大:结论:患有TS的女性的垂直侧向头形特征与非综合征女性的头形特征有显著差异,其中单体X核型女性的偏差最大且最一致。TS女性患者的颅面后部垂直发育较少,下颌骨横突高度明显下降,导致了观察到的头形特征。
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引用次数: 0
Effectiveness of oral health interventions among children and adolescents with mental disorders: a systematic review. 对患有精神障碍的儿童和青少年进行口腔健康干预的有效性:系统性综述。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-03-13 DOI: 10.1111/scd.12990
Noor Baiti Bab, Raja Nur Adilah Raja Abdul Rahman, Salina Mohamed, Nawwal Alwani Mohd Radzi, Norashikin Yusof

Background: The rising percentage of children and adolescents experiencing mental disorders brought attention to the emerging opportunities for proactive oral health interventions in this population. Currently, existing guidelines focus mainly on oral health in general practice and on adults residing in care homes. This report aims to provide a broad overview of the effectiveness of oral health interventions for children and adolescents with mental disorders.

Method: This review followed the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analyses 2020) statement. The initial electronic search yielded a total of 3710 articles. The search identified 2354 potential papers after removing duplicates and 2301 articles were excluded by title and abstract. The full texts of the remaining 53 articles and nine articles from the citation searching were screened and 15 articles matched the inclusion criteria. The Mixed-Method Appraisal Tool (MMAT) was used for quality appraisal.

Results: The thematic analysis resulted in four main themes which were educational intervention, physical intervention, clinical intervention, and a combination of both educational and clinical intervention.

Conclusion: We presented the findings in a narrative synthesis with the primary outcomes which served as answers to our main research question that prompted this systematic review.

背景:患有精神障碍的儿童和青少年的比例不断上升,这使人们注意到在这一人群中采取积极的口腔健康干预措施的新机遇。目前,现有的指南主要关注普通实践中的口腔健康和居住在护理之家的成年人。本报告旨在概述针对患有精神障碍的儿童和青少年的口腔健康干预措施的有效性:本综述遵循 PRISMA(2020 年系统综述和元分析首选报告项目)声明。最初的电子检索共收到 3710 篇文章。在去除重复的文章后,搜索发现了 2354 篇潜在论文,根据标题和摘要排除了 2301 篇文章。对其余 53 篇文章的全文和 9 篇引文检索文章进行了筛选,有 15 篇文章符合纳入标准。采用混合方法评估工具(MMAT)进行质量评估:专题分析产生了四个主题,分别是教育干预、物理干预、临床干预以及教育和临床干预的结合:我们以叙述性综述的形式介绍了研究结果和主要成果,这些成果回答了我们的主要研究问题,从而促使我们进行了这次系统性综述。
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引用次数: 0
Rampant caries: What it is and what it isn't. 龋齿猖獗:它是什么,它又不是什么。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2024-03-10 DOI: 10.1111/scd.12986
Mahen Ganhewa, Vijayalakshmi Murthy, Ravikumar Rajappa, Ruchika Raj, Daniel Lawrence, Nicola Cirillo
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引用次数: 0
Dentofacial manifestations in a child with Jalili syndrome. 一名贾利利综合征患儿的颌面部表现。
IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Pub Date : 2024-07-01 Epub Date: 2023-12-27 DOI: 10.1111/scd.12953
Mugilan Ravi, Pavithra Devi Karthikeyan, Nitesh Tewari, Rahul Morankar, Amit Kumar Gupta, Hemlata Nehta, Sruthila Raghuthaman

Jalili syndrome (JS) (MIM#217080) is a rare autosomal recessive disorder with oculo-dental malformations. The clinical phenotype is characterized by the presence of Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI). Genetic mechanism entails a mutation in the CNNM4, a metal transporter gene located on Chromosome 2q11.2. A high fluoride concentration in groundwater has also been identified as an epigenetic factor in this syndrome. JS draws the attention of dentists due to its distinct oral manifestations. To the best of our knowledge, this is the first genetically confirmed pediatric case report from the Indian subcontinent emphasizing the clinical and radiographic features of this condition and its management in a 6-year-old child.

贾立综合征(JS)(MIM#217080)是一种罕见的常染色体隐性遗传疾病,伴有眼部牙齿畸形。临床表型的特点是存在锥体-罗氏营养不良(CRD)和髓质发育不全(AI)。遗传机制是位于染色体 2q11.2 上的金属转运体基因 CNNM4 发生了突变。地下水中高浓度的氟也被认为是导致这种综合症的表观遗传因素。JS 因其独特的口腔表现而引起牙科医生的关注。据我们所知,这是印度次大陆首例经基因证实的儿科病例报告,强调了该病症的临床和影像学特征,以及对一名 6 岁儿童的治疗。
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引用次数: 0
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