Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.

PURPOSE: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic spectrum and determine the value of biochemical testing as a frontline investigation in ASNSD. METHODS: We retrospectively collected the clinical and molecular information on 13 families with ASNSD from the major metabolic clinics in Saudi Arabia. RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brain abnormalities (100%), spasticity (86%), and infantile-onset seizures (93%). Additional unreported phenotypes included umbilical hernia, osteopenia, eczema, lung hypoplasia, and hearing loss. Overall, seven homozygous variants accounted for ASNSD. The p.Tyr398Cys and p.Asn75Ile variants accounted for 54% of the cases. The clinical sensitivity and specificity of the proposed biochemical analysis of cerebrospinal fluid (CSF) for the detection of patients with ASNSD were 83% and 98%, respectively. CONCLUSION: Our study describes the largest reported ASNSD cohort with clinical, molecular, and biochemical characterization. Taking into consideration the suboptimal sensitivity of biochemical screening, the delineation of the phenotype variant spectrum is of diagnostic utility for accurate diagnosis, prognosis, counseling, and carrier screening.

The effect of a multicomponent exercise programme onelderly adults' risk of falling in nursing homes: A systematic review.

OBJECTIVE: To determine the effect of a multi-component exercise programme on elderly adults' risk of falling in nursing homes. METHODS: A computerised search of published randomised controlled trials in the English language was performed using PubMed, Cochrane Library, the Cumulative Index of Nursing and Allied Health Literature, Physiotherapy Evidence Database (PEDro), and the Institute for Scientific Information up to December 2017. We included highquality articles that reported a score of ≥5 on the Physiotherapy Evidence Databasescale which compared multicomponent exercise with a single exercise programme in nursing homes, with the risk of falling as an outcome, among participants aged ≥65 years. RESULTS: A total of 8 articles, comprising 382 participants, were included. All these articles scored 6-8 points out of 10 on the PEDro scale, with an average of 6.7 points. The mean age of participants in the included articles was ranged from 76±8.0 to 92±2.0 years, and286 (75%) participants were females. A multi-component exercise programme in the experimental group, which had 204 (53.4%) subjects significantly reduced the risk of falling in nursing homes compared to a single-exercise programme, which was used in the control group that had 178(46.6%) subjects. CONCLUSIONS: A multi-component exercise programme was found to be useful for reducing elderly adults' risk of falling in nursing homes.

Development and Validation of a New Patient-Reported Outcome Measure in the Arabic Language for Patients with Knee Osteoarthritis in Saudi Arabia.

Purpose: In Western countries, several patient-reported outcomes (PROs) measures have been developed and validated for knee osteoarthritis (OA) patients. While few PROs have been adopted for these patients in Saudi Arabia, which do not reflect all aspects of the Saudi socio-cultural context. Given this shortcoming, this study aimed to develop a new PRO measure in Arabic that covers all concepts related to health, function, and participation encompassing environmental and personal factors. Patients and Methods: A cross-sectional study was conducted on 73 males and females aged ≥55 diagnosed with radiographic knee OA recruited from the orthopedic and physiotherapy departments of five hospitals in Riyadh, Saudi Arabia, between September 2016 and March 2017. Physicians confirmed knee OA according to the American College of Rheumatology standards. We examined the psychometric properties of the new Arabic PRO measure. Results: The internal consistency and test-retest (a one-week interval) reliabilities were found acceptable and excellent with Cronbach's alpha and the intra-class correlation coefficient, ranging from 0.69 to 0.85 and 0.88 to 0.91, respectively. The construct validity was found fair with the correlation between the subscales Body Function and Physical Function (rs =0.63), Activity & Participation and Physical Function (rs =0.72), and Body Function and Bodily Pain (rs =0.58). We found a weak to fair correlation between the new Arabic PRO measure's subscales and the SF-36 physical composite scale (PCS: rs =0.34-0.69) compared to the mental-composite scale (MCS: rs =0.16-0.55). Conclusion: The 33-item new Arabic PRO measure is a well-accepted, reliable, and valid tool for use in knee OA patients in the Saudi cultural context.

Anti-N-methyl-d-aspartate Receptor Encephalitis: A Case Series and Review of the Literature.

Anti-NMDAR (N-methyl-d-aspartate receptor) encephalitis is a potentially severe form of encephalitis associated with antibodies against NR1 and NR2 subunits of the NMDAR. Anti-NMDAR encephalitis is a treatable cause of encephalitis. An underlying tumor should be actively looked for as this is also considered to be a paraneoplastic syndrome. We report two children with anti-NMDAR encephalitis with a literature review of current evidence in diagnosing and managing this rare condition. Resection of the tumor, glucocorticoids, intravenous immunoglobulin, and plasma exchange often result in improvement, usually within four weeks. Outcome corresponds with the rapidity of commencing appropriate treatment.