Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy.

Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and significantly affecting skeletal muscle. Gene mutations affecting transmembrane ionic flow are strongly linked to skeletal muscle disorders, particularly myopathies, disrupting muscle excitability and contraction. Electromyography (EMG) analysis performed on a patient who complained of weakness and fatigue revealed the presence of primary muscular damage, suggesting an early-stage myopathy. Whole exome sequencing (WES) did not detect potentially causative variants in known myopathy-associated genes but revealed a novel homozygous deletion of the P2RX6 gene likely disrupting protein function. The P2RX6 gene, predominantly expressed in skeletal muscle, is an ATP-gated ion channel receptor belonging to the purinergic receptors (P2RX) family. In addition, STRING pathways suggested a correlation with more proteins having a plausible role in myopathy. No previous studies have reported the implication of this gene in myopathy. Further studies are needed on patients with a defective ion channel pathway, and the use of in vitro functional assays in suppressing P2RX6 gene expression will be required to validate its functional role.

Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities.

BACKGROUND: This study was aimed to investigate the prevalence of dental anxiety in a population of patients with Borderline Intellectual Functioning (BIF) and patients with mild and moderate intellectual disability (ID), and how dental anxiety correlated with their age and gender. METHODS: The sample was made of 700 patients, 287 females and 413 males, 6-to-47 years old, either with borderline intellectual functioning or mild/moderate intellectual disabilities. All patients were administered the Dental Anxiety Scale to assess their level of dental anxiety. RESULTS: Moderate Anxiety was the most prevalent dental anxiety category for patients with intellectual borderline functioning (15.56 %) and mild intellectual disabilities(18.79 %), while Severe Anxiety was the most prevalent category for patients with moderate intellectual disabilities(21 %). Overall, a statistically significant difference (p < 0.001) between the three groups (BIF, Mild-ID and Moderate-ID) was found. Also, the correlation analysis between participants' age and dental anxiety was statistically significant (p < 0.001); indeed, dental anxiety turned out to decrease with the increasing of the age. Moreover, the analysis between gender and dental anxiety was found to be significant as well (p < 0.001), where higher prevalence of dental anxiety was found in females. CONCLUSIONS: To our knowledge, this is the first study on dental anxiety carried out in the field of intellectual disability. Results show that the higher the level of intellectual disability - and consequently the lower the cognitive functioning - the higher the percentage and the severity of dental anxiety.

On the Waves of the COVID-19 Pandemic.

The COVID-19 pandemic has been a tsunami that has deeply changed the lives of the people all over the planet [...].

Sensory-Adapted Dental Environment for the Treatment of Patients with Autism Spectrum Disorder.

PURPOSE: The importance of dental care and oral hygiene is often underestimated in people with autism spectrum disorder (ASD). Comorbidity with dental anxiety is greater in ASD subjects who also show unusual reactions to sensory stimuli. The aim of our study was to assess the efficacy for a sensory-adapted environment and targeted methods in reducing anxiety and positively influencing cooperation in children with ASD during a dental examination or specific treatments. MATERIAL AND METHODS: The sample consisted of 50 Italian children with a diagnosis of ASD (36 males and 14 females; aged 9-10 years) presenting with mild intellectual disability (ID) and verbal language skills. The subjects enrolled in the study had at least two decayed teeth and all were treated in two different dental environments: regular dental environment (RDE) and sensory-adapted dental environment (SADE). RESULTS: 20% of the sample was successfully treated in RDE, while 68% of subjects were successfully treated in SADE. CONCLUSIONS: Results suggest that a sensory-adapted environment positively affects the therapeutic dental treatment in patients with ASD and reaffirm that sensory dysregulation in children with ASD is a crucial factor influencing the successful outcome of oral care.