What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients.

BACKGROUND: Hypodontia is the most prevalent dental anomaly in humans, and is primarily attributed to genetic factors. Although genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNP) associated with hypodontia, genetic risk assessment remains challenging due to population-specific SNP variants. Therefore, we aimed to conducted a genetic analysis and developed a machine-learning-based predictive model to examine the association between previously reported SNPs and hypodontia in the Saudi Arabian population. Our case-control study included 106 participants (aged 8-50 years; 64 females and 42 males), comprising 54 hypodontia cases and 52 controls. We utilized TaqManTM Real-Time Polymerase Chain Reaction and allelic genotyping to analyze three selected SNPs (AXIN2: rs2240308, PAX9: rs61754301, and MSX1: rs12532) in unstimulated whole saliva samples. The chi-square test, multinomial logistic regression, and machine-learning techniques were used to assess genetic risk by using odds ratios (ORs) for multiple target variables. RESULTS: Multivariate logistic regression indicated a significant association between homozygous AXIN2 rs2240308 and the hypodontia phenotype (ORs [95% confidence interval] 2.893 [1.28-6.53]). Machine-learning algorithms revealed that the AXIN2 homozygous (A/A) genotype is a genetic risk factor for hypodontia of teeth #12, #22, and #35, whereas the AXIN2 homozygous (G/G) genotype increases the risk for hypodontia of teeth #22, #35, and #45. The PAX9 homozygous (C/C) genotype is associated with an increased risk for hypodontia of teeth #22 and #35. CONCLUSIONS: Our study confirms a link between AXIN2 and hypodontia in Saudi orthodontic patients and suggests that combining machine-learning models with SNP analysis of saliva samples can effectively identify individuals with non-syndromic hypodontia.

Retraction: Eagle Syndrome: A Rare Cause of Stroke in a Young Patient.

[This retracts the article DOI: 10.7759/cureus.21102.].

Assessment of willingness of Saudi public to participate in a dental biorepository for research purposes.

BACKGROUND: Biobanks/biorepositories are created to collect biospecimens for therapeutic and research uses. The success of the banking concept depends predominantly on the public's understanding and desire to contribute, which triggers several social, cultural, and ethical implications. The aim of this study is (1) to assess the willingness among adults attending outpatient clinics at King Abdulaziz Medical City to donate dental tissue samples to a biorepository for research purposes, (2) to identify the significant predictors for positive attitudes and willingness to donate dental bio-specimens. METHODOLOGY: This is a cross-sectional study that targeted 401 adult outpatients attending King Abdulaziz Medical City in Riyadh, Saudi Arabia. The questionnaire focused on three main parts: demographic and personal characteristics, and previous experience regarding biorepositories (part I), knowledge about dental biorepositories (part II), and willingness and attitudes towards donating dental biospecimens (part III). Data collected were analyzed using the statistical program SAS (version 9.4) with 0.05 level of significance to determine the willingness of donating tissue to biobanks for biomedical research purposes, measure knowledge and attitude about biobanking, find the association between the assessed variables, and identify significant predictors of positive attitude to donate dental biospecimens. RESULTS: 66% of the participants were willing to donate dental biospecimens, however only 33.9% showed good level of knowledge. Despite the notable lack of knowledge, 54% respondents had favorable attitude towards donating dental biospecimens, and only 17% were negative while the remaining 29% were neutral. Previous involvement in medical research, previous blood testing or donation, female gender, higher education level, employment in a medical facility, and higher monthly income variables were found to be significantly associated with higher willingness to donate dental biospecimens. CONCLUSION: Although the majority of the participants exhibited lack of knowledge about dental biorepositories, they showed high willingness and good attitude towards donating dental biospecimens. This favorable attitude is, in turn, encouraging for the future establishment of dental biorepositories in Saudi Arabia. Six factors were significantly associated with the willingness to donate dental biospecimens, out of these, female gender, previous blood testing/donation, previous involvement in medical research were found to be strong predictors.

Eagle Syndrome: A Rare Cause of Stroke in a Young Patient.

Stroke is a common acute neurological injury that may develop due to arterial thrombosis or hemorrhage. However, it is uncommon in the young population. The etiologies of stroke in young patients are different compared with those for the elderly population. They include various non-atherosclerotic angiopathies, hematological conditions, and inflammatory disorders. We report the case of a 26-year-old man who presented to the emergency department because he noticed that his right hand had become clumsy. He first noticed this symptom five days before his presentation, but he noticed that his symptom had improved significantly since it began. He reported that he had episodes of neck pain and pain around the ear. He visited the family physician clinic several times for this complaint and was diagnosed as having a temporomandibular joint disorder. Neurological examination revealed decreased muscle strength in the right upper limb with a power of 4/5 along with a sensory deficit. The coordination was intact. No gait ataxia was noted. Considering the patient's age, the initial diagnosis was a demyelinating disorder such as multiple sclerosis. The patient underwent magnetic resonance imaging of the brain. It demonstrated an increased signal intensity in the territory of the left middle cerebral artery representing a left-sided infarction. Subsequently, the patient underwent computed tomography angiography of the head to rule out any structural malformation. The scan showed the presence of an elongated styloid process that appeared in close proximity to the neck vasculature. These radiological findings are consistent with Eagle syndrome. The patient underwent surgical resection of the styloid process. Eagle syndrome is a rare clinical condition that may have a myriad of clinical presentations. A high index of suspicion for this condition is vital to reach the diagnosis. Physicians should keep this condition in the differential diagnosis of stroke in the young population with no risk factors.

The Status of Digital Dental Technology Implementation in the Saudi Dental Schools' Curriculum: A National Cross-Sectional Survey for Healthcare Digitization.

Objective: The primary objective of this cross-sectional national study was to investigate the status of digital dental technology (DDT) adoption in Saudi Arabian undergraduate dental education. A secondary objective was to explore the impact of dental schools' funding sources to incorporate digital technologies. Methods: A self-administered questionnaire was distributed to the chairpersons of prosthetic sciences departments of the 27 dental schools in Saudi Arabia. If any department chairman failed to respond to the survey, a designated full-time faculty member was contacted to fill out the form. The participants were asked about the school's sector, DDT implementation in the curriculum, implemented level, their perceptions of the facilitators and challenges for incorporating DDT. Results: Of the 27 dental schools (18 public and 8 private), 26 responded to the questionnaire (response rate: 96.3%). The geographic distribution of the respondent schools was as follows: 12 schools in the central region, 6 in the western region, and 8 in other regions. Seventeen schools secure and preserve patients' records using electronic software, whereas nine schools use paper charts. Seventeen schools (64,4%) implemented DDT in their curricula. The schools that did not incorporate DDT into their undergraduate curricula were due to not being included in the curriculum (78%), lack of expertise (66%), untrained faculty and staff (44%), and cost (33%). Conclusions: This national study showed that digital components still need to be integrated into Saudi Arabian dental schools' curricula and patient care treatment. Additionally, there was no association between funding sources and the DDT implementation into the current curricula. Consequently, Saudi dental schools must emphasize the implementation and utilization of DDT to align with Saudi Vision 2030 for healthcare digitization and to graduate competent dentists in digital dental care.