Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A, MIM# 613,925, autosomal recessive), and megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B, MIM# 613,926, autosomal dominant). These disorders are characterised by macrocephaly, seizures, motor delay, cognitive impairment, ataxia, and spasticity. Brain magnetic resonance imaging (MRI) in these individuals shows swollen cerebral hemispheric white matter and subcortical cysts, mainly in the frontal and temporal regions. To date, 45 individuals from 39 families are reported with biallelic and heterozygous variants in HEPACAM, causing MLC2A and MLC2B, respectively. A 9-year-old male presented with developmental delay, gait abnormalities, seizures, macrocephaly, dysarthria, spasticity, and hyperreflexia. MRI revealed subcortical cysts with diffuse cerebral white matter involvement. Whole-exome sequencing (WES) in the proband did not reveal any clinically relevant single nucleotide variants. However, copy number variation analysis from the WES data of the proband revealed a copy number of 4 for exons 3 and 4 of HEPACAM. Validation and segregation were done by quantitative PCR which confirmed the homozygous duplication of these exons in the proband and carrier status in both parents. To the best of our knowledge, this is the first report of an intragenic duplication in HEPACAM causing MLC2A.

Clustered Regularly Interspaced short palindromic repeats-Based Microfluidic System in Infectious Diseases Diagnosis: Current Status, Challenges, and Perspectives.

Mitigating the spread of global infectious diseases requires rapid and accurate diagnostic tools. Conventional diagnostic techniques for infectious diseases typically require sophisticated equipment and are time consuming. Emerging clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated proteins (Cas) detection systems have shown remarkable potential as next-generation diagnostic tools to achieve rapid, sensitive, specific, and field-deployable diagnoses of infectious diseases, based on state-of-the-art microfluidic platforms. Therefore, a review of recent advances in CRISPR-based microfluidic systems for infectious diseases diagnosis is urgently required. This review highlights the mechanisms of CRISPR/Cas biosensing and cutting-edge microfluidic devices including paper, digital, and integrated wearable platforms. Strategies to simplify sample pretreatment, improve diagnostic performance, and achieve integrated detection are discussed. Current challenges and future perspectives contributing to the development of more effective CRISPR-based microfluidic diagnostic systems are also proposed.

Knowledge, Awareness, and Attitude in Using Dental Implants as an Option in Replacing Missing Teeth Among Dental Patients: Survey-Based Research in a Dental Teaching Hospital in Derabassi, Punjab.

Background Among many options that are available to replace missing teeth, dental implants are very popular. Information about patient awareness of dental implants is an important parameter for planning health care services and marketing. Knowledge of the treatment method minimizes any negative image that can be caused by a lack of proper communication. Aim and objective The objective of this study is to assess and obtain information about the knowledge, awareness, and attitude in using dental implants as an option for replacing missing teeth among dental patients. Materials and methods A questionnaire survey was conducted on 5000 subjects. This was a self-administered two-part questionnaire consisting of 18 questions. The percentage response for each question from all participants was obtained and the data collected was calculated and analyzed using Statistical Package for Social Sciences (SPSS) software version 21.0 (IBM Inc., Armonk, New York). Results Out of 5000 patients, 75% were already aware of dental implants from various means (dentist, family friends, social media such as television, radio, newspaper, or magazine). Based on the survey results, a significant number of patients had knowledge and awareness as well as a positive attitude towards using dental implants as an option for missing teeth. Conclusion People have a decent to fair level of understanding and awareness of dental implants, which are used to replace lost teeth. The dentist plays the most important role in this regard, and this can be accomplished by implementing patient education programs and counseling centers on the usage and benefits of dental implants.

Emerging Promise of Phytochemicals in Ameliorating Neurological Disorders.

BACKGROUND: The field of medicine and synthetic drug development have advanced rapidly over the past few decades. However, research on alternative medicine such as phytochemicals cannot be ignored. The main reason for prominent curiosity about phytochemicals stems from the belief that usage of natural compounds is safer and has lesser detrimental side effects. OBJECTIVE: The aim of the present review was to discuss in detail with several phytochemicals that have been studied or are being studied in the context of various neurological disorders including depression, Alzheimer's disease, Huntington's disease and even neuroinflammatory disorders such as encephalitis. METHODS: The potential role of phytochemicals in the treatment or management of symptoms associated with neurological disorders have been included in this article. All data included in this paper has been pooled from various databases including Google Scholar, PubMed, Science Direct, Springer and Wiley Online Library. RESULTS: Phytochemicals have been widely studied for their therapeutic properties associated with neurological disorders. Using various experimental techniques for both in vivo and in vitro experiments, studies have shown that phytochemicals do have antioxidant, anti-inflammatory and neuroprotective activities which play major roles in the treatment of neurological diseases. CONCLUSION: Even though there has been compelling evidence of the therapeutic role of phytochemicals, further research is still required to evaluate the safety and efficacy of these medicines. Using previously published papers as foundation for additional research such as preclinical studies and clinical trials, phytochemicals can become a safer alternative to synthetic drugs for treating a spectrum of neurological diseases.