METHODS: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.
RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Most cases (86%) presented with confusion, dystonia, convulsions, or dysarthria, while three individuals were diagnosed pre-symptomatically during familial targeted genetic screening. Symptoms resolved completely within 2-week of treatment in two-thirds of the symptomatic cases but progressed in six of them to a variety of severe symptoms including severe cogwheel rigidity, dystonia and quadriparesis due to delayed presentation and management. Neuroradiological findings of the symptomatic cases revealed bilateral central changes in the basal ganglia. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases. Age of diagnosis ranged from newborn to 32 years, with a median age of 2-3 years. All cases are still alive receiving high doses of biotin and thiamine.
CONCLUSION: This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.
METHODS: We retrospectively reviewed medical data in 232 patients who received TSGB from 2004 to 2020. Technical success and a positive outcome of TSGB were defined as a temperature increase of ≥1.5°C at 20 min and a pain reduction with ≥2 points on the 11-point Numerical Rating Scale at 2 weeks post-TSGB, respectively. Correlations were assessed using correlation coefficients (R), and multivariable regression model was used to identify factors relevant to TSGB outcomes.
RESULTS: 207 patients were ultimately analyzed; among them, 115 (55.5%) patients positively responded to TSGB, and 139 (67.1%) achieved technical success after TSGB. No significant relationship existed between the pain reduction and the temperature increase after TSGB (R=0.013, p=0.855). Comorbid diabetes (OR 4.200) and adjuvant intake (OR 3.451) were positively associated, and psychiatric comorbidity (OR 0.327) and pain duration (OR 0.973) were negatively associated with TSGB outcome.
CONCLUSIONS: We found no significant association between the temperature increase and pain reduction after TSGB. Further studies are warranted to identify significant factors associated with TSGB outcomes in patients with complex regional pain syndrome and neuropathic pain diseases.
OBJECTIVE: This study aims to determine the efficacy of PR in reducing radicular pain among lumbar disc herniation patients compared with conservative treatment.
METHODS: This study was conducted using the before-andafter quasi experimental design. There were 50 subjects that fulfilled the inclusion and exclusion criteria and they were divided into an intervention group (n=25) and control group (n=25). The intervention group was given once PR in the dorsal root ganglion. All subjects were assessed for Visual Analog Scale (VAS) and Oswestry Disability Index (ODI) before treatment, at 1- , 2- and 4-week after treatment.
RESULTS: At1-, 2- and 4-week, the VAS reduction in the intervention group was statistically significant compared to the control group. Four weeks after the intervention, the VAS score decreased in the intervention group (mean VAS -78.5, SD 16.8) more significantly compared to the control group (p<0.001). The ODI score decreased in the intervention group (mean ODI -61.8, SD 20.1) more significantly than in the control group (p<0.001).
CONCLUSION: Finding showed that at1- , 2- and 4-weekPR was more efficacious in reducing radicular pain among lumbar disc herniation patients compared to the conservative therapy.