These findings suggest that the R86X mutation in the HAX1 gene is an abnormality in Japanese SCN patients with HAX1 deficiency and may lead to neurodevelopmental abnormalities and severe myelopoietic defects.
Background: Poor oral health is associated with an increased risk of dementia in the elderly. One possible pathway linking these two phenomena is lacunar infarction, a potential cause of dementia. An association between poor oral health and an increased risk of ischaemic stroke has been recognised through the oral infection-inflammation pathway. However, little is known about whether poor oral health is associated with the progression of lacunar infarction. Objective: We examined the association between variables related to oral health and lacunar infarction, as detected by magnetic resonance imaging (MRI). Methods: A total of 110 subjects (52 men, 58 women), aged 27-76 years, who visited our periodontology clinic participated in this study. The subjects underwent dental radiography, periodontal examinations and brain MRI. One experienced specialist in cardiovascular disease and one experienced neurosurgeon determined the number of lacunar infarctions on brain MRI. Periodontologists performed clinical periodontal examinations. Variables related to oral health were determined from the radiographs by an oral radiologist. Information on the subjects' lifestyles and disease histories were obtained using a structured questionnaire and confirmed by clinical records. Adjacent categories logit regression analysis with backward elimination was used to determine variables associated with three groups based on the number of lacunar infarctions. Results: Of the 110 subjects, 61 had lacunar infarctions. Nineteen had multiple (≥7) lesions. Aging (p = 0.0004), increased time spent in physical activity per day (p = 0.042), the presence of hypertension (p = 0.006), the absence of hyperlipidaemia (p = 0.045), the presence of diabetes mellitus (p = 0.025) and low alveolar bone height (p = 0.026) were significantly associated with an increased number of lacunar infarctions in the final regression model. The significance of hyperlipidaemia and alveolar bone height disappeared in an unadjusted model. An increased pocket depth, which indicates current periodontal disease progression, tended to be associated with an increased number of lacunar infarctions (p = 0.058). This tendency did not disappear in an unadjusted model. Conclusion: Our results suggest that lacunar infarction may be associated with current periodontal disease in Japanese adults.
HAX1 deficiency has recently been identified as a cause of severe congenital neutropenia (SCN), but little is known about the phenotype. We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. Notably, the patient has been complicated by epilepsy and severe delay of motor, cognitive, and intellectual development; each developmental quotient was 21-26 at 7 years old. Growth failure and dental development delay were also noted. Neurodevelopmental delay in this patient expands the clinical phenotype of HAX1 deficiency and suggests an important role of HAX1 on neural development as well as myelopoiesis.
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