Oral manifestations of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis

Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018–2019. The study group consisted of 31 patients with WHS who underwent a standardized oral examination. Due to behavioral reasons, imaging studies were performed on only 11 of the children 6 years of age or older. All participants had previously undergone a specific medical examination for WHS, during which anatomical, functional, epilepsy-related, and genetic variables were recorded. Results: The most prevalent oral manifestations were delayed tooth eruption (74.1%), bruxism (64.5%), dental agenesis (63.6%), micrognathia (60.0%), oligodontia (45.5%), and downturned corners of the mouth (32.3%). We detected strong correlation between psychomotor delay and oligodontia (p = 0.008; Cramér’s V coefficient, 0.75). The size of the deletion was correlated in a statistically significant manner with the presence of oligodontia (p = 0.009 ; point-biserial correlation coefficient, 0.75). Conclusion: Certain oral manifestations prevalent in WHS can form part of the syndrome’s phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome

Salivary flow and xerostomia in patients with type 2 diabetes

Saliva is secreted by the major and minor salivary glands. There are a number of physiological factors that can reduce this secretion such as age, sex, body weight, number of teeth present in the mouth or time of day. This decrease may also be caused by the use of certain drugs, radiotherapy for head and neck cancer, chronic rheumatic diseases such as Sjögren's syndrome and other systemic disorders such as diabetes mellitus (DM). Objective of this study was to investigate the effect of type 2 DM on salivary secretion and its relation to the sensation of xerostomia

Treatment of xerostomia and hyposalivation in the elderly: A systematic review.

Therapeutic strategies for xerostomia, regardless of etiology, have so far not had definitive or clearly effective results. To systematically revise the latest scientific evidence available regarding the treatment of dry mouth, regardless of the cause of the problem. The literature search was conducted in March 2015, using the Medline and Embase databases. The "Clinical Trial", from 2006 to March 2015, was carried out in English and only on human cases. The draft of the systematic review and assessment of the methodological quality of the trials was carried out following the criteria of PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) and the "Oxford Quality Scale". Finally, a total of 26 trials were identified that met the previously defined selection and quality criteria; 14 related to drug treatments for dry mouth, 10 with non-pharmacological treatment and 2 with alternative treatments. Pilocarpine continues to be the best performing sialogogue drug for subjects with xerostomia due to radiation on head and neck cancer or diseases such as Sjogren's Syndrome. For patients with dry mouth caused solely by medication, there are some positive indications from the use of malic acid, along with other elements that counteract the harmful effect on dental enamel. In general, lubrication of oral mucous membrane reduces the symptoms, although the effects are short-lived

Neuroinflammation, Alzheimer\u92s disease and periodontal disease: is there an association between the two processes?

Alzheimer\u92s disease (AD) is a very common cause of dementia in developed countries and increases its prevalence progressively with age. AD etiopathogenesis is not yet understood. However, it is recognized that neuroinflammation plays a key role in its pathogenesis with the activation of microglia and the secretion of proinflammatory cytokines triggering irreversible neurodegenerative deterioration. This paper is a short review of the relationship between AD and periodontal disease (PD). Both processes may have common causes: both are inflammatory diseases and the prevalence and progression increases with ageing. However, we must consider that AD begins to develop many years before its clinical diagnosis. It is thought that in this prodromal period a connection could be established between both processes, both sustained by low intensity inflammation. There are several studies that relate both processes such as the possible systemic exposure to certain periodontopathogenic bacteria or the proinflammatory cytokines and other elements. It is argued that there are no modifiable factors such as age, or genetic factors, but that there are other factors that could be avoided, modified or controlled such as periodontal peripheral inflammation

Salivary glucose as a metabolic control marker in patients with type 2 diabetes

A study was made of the correlation between the serum and salivary glucose levels in healthy subjects and in patients with type 2 diabetes, in order to establish the validity of salivary glucose determination in monitoring glycemia. Ninety-seven subjects were included in the study: 47 diabetic patients and 46 controls, aged between 40- and 80-years-of-age. Venous blood and saliva samples were collected in both groups under fasting conditions and after administering a test meal (15% proteins, 55% carbohydrates and 30% lipids). The glucose levels were measured using the glucose oxidase technique. The salivary glucose levels were seen to be greater in the diabetic group vs the controls both under fasting conditions (baseline) and after the meal (postprandial) (p=0.023 and p=0.008, respectively). A significant positive correlation was found between the serum and salivary glucose levels at baseline and under resting conditions, particularly in the diabetic group (r=0.389, p=0.002). The coefficient of determination of the simple linear regression model was R2=0.042, showing salivary glucose to be related to the blood glucose levels. In conclusion, salivary glucose concentration is correlated to serum glucose, particularly in type 2 diabetics