Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Understanding the underlying causes of congenital anomalies (CAs) can be a complex diagnostic journey. We aimed to assess the efficiency of exome sequencing (ES) and chromosomal microarray analysis (CMA) in patients with CAs among a population with a high fraction of consanguineous marriage. Depending on the patient's symptoms and family history, karyotype/Quantitative Fluorescence- Polymerase Chain Reaction (QF-PCR) (n = 84), CMA (n = 81), ES (n = 79) or combined CMA and ES (n = 24) were performed on 168 probands (66 prenatal and 102 postnatal) with CAs. Twelve (14.28%) probands were diagnosed by karyotype/QF-PCR and seven (8.64%) others were diagnosed by CMA. ES findings were conclusive in 39 (49.36%) families, and 61.90% of them were novel variants. Also, 64.28% of these variants were identified in genes that follow recessive inheritance in CAs. The diagnostic rate (DR) of ES was significantly higher than that of CMA in children from consanguineous families (P = 0·0001). The highest DR by CMA was obtained in the non-consanguineous postnatal subgroup and by ES in the consanguineous prenatal subgroup. In a population that is highly consanguineous, our results suggest that ES may have a higher diagnostic yield than CMA and should be considered as the first-tier test in the evaluation of patients with congenital anomalies.

The prevalence of multiple sclerosis (MS) in Oceania, a systematic review, and meta-analysis.

BACKGROUND: Oceania is a continent, covering more than 8 million km2, with a population of more than 44 million people. In different countries landing in Oceania, various prevalence of MS has been reported, so we designed this systematic review and meta-analysis to estimate the pooled prevalence of MS in Oceania. METHODS: We systematically searched PubMed, Scopus, EMBASE, Web of Science, and Google Scholar. We also searched references of included studies, and conference abstracts. The search was done on January 1, 2023, by two independent researchers. We extracted the name of the first author, country, publication year, prevalence period, number of study participants, total female and male population, disease duration, type of MS, mean duration of the disease, mean age at disease onset, mean Expanded Disability Status Scale (EDSS), and total female and male patients with MS. RESULTS: A literature search revealed 81,044 records; after deleting duplicates, 38,260 records remained. One hundred and six full texts were evaluated, and finally, seventeen studies remained for systematic review. Most studies were done in Newcastle; eight studies were done in 1961, 8 in 1981, 2 in 1996, and 2 in 2001. In all other years, only one study was done. The pooled prevalence of MS in 1961 in Oceania was estimated as 19.85/100,000 (I2=70.3%, p=0.001). The pooled prevalence of MS in 1981 in Oceania was estimated as 39.07/100,000 (I2 =88%, p=0.001). CONCLUSIONS: The result of this systematic review and meta-analysis shows that the prevalence of MS has increased dramatically during the timespan in Oceania.

A Smartphone-based Application for Self-Management in Multiple Sclerosis.

Background: Multiple sclerosis (MS) is a chronic inflammation of the central nervous system and self-management is necessary for MS patients. The purpose of the present study was to develop a smartphone-based application for self-management in multiple sclerosis. Methods: This research was conducted in two phases. In the first phase, users' requirements were investigated by using a questionnaire. The participants were 120 MS patients and six neurologists. In the second phase, a prototype of the application was designed and its usability was evaluated by using QUIS questionnaire. Results: Most of the proposed educational content, data elements, and the application functions, such as medication time reminder, assessing the severity of fatigue, and calculating the score of the Fatigue Severity Scale were found necessary to be included in the application. Finally, the usability of the application was evaluated by the users and the average of mean values was 7.6 out of 9 which indicated a "good" level of user satisfaction. Conclusions: The application designed in this study was able to collect patient data and facilitated consulting physicians at the point of need. It is expected that the patients' quality of life and health status can be improved by using this application. However, more research is required to investigate the efficiency and effectiveness of this application in terms of reducing the number of visits to the medical centers, improving self-management skills of MS patients and their quality of life.