OBJECTIVE: The aim of this study was to determine the relationship between HRQoL and treatment satisfaction in a sample of Palestinian hypertensive patients.
METHODS: A cross-sectional study was conducted, adopting the Treatment Satisfaction Questionnaire for Medication (TSQM 1.4) for the assessment of treatment satisfaction and using the European Quality of Life scale (EQ-5D-5L) for the assessment of HRQoL. Descriptive and comparative statistics were used to describe socio-demographic and disease-related characteristics of the patients. All analyses were performed using SPSS v 15.0.
RESULTS: Four hundred and ten hypertensive patients were enrolled in the study. This study findings indicate a positive correlation between all satisfaction domains and HRQoL. Significant differences were observed between this study variables (P < 0.001). After adjustment for covariates using multiple linear regression, an increase of one point in the global satisfaction scale was associated with a 0.16 increase in EQ-5D index scores (r = 0.16; P < 0.001).
CONCLUSIONS: Patients with reportedly higher satisfaction scores have reported relatively higher EQ-5D-5L index values. These study findings could be helpful in clinical practice, mainly in the early treatment of hypertensive patients, at a point where improving treatment satisfaction and HRQoL is still possible.
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.