ABSTRACT
Hemophagocytic lymphohistocytosis (HLH) is a severe and fatal immunological disorder that is either primary (i.e., familial) or secondary (i.e., acquired). The primary type comprises autosomal recessive disorders with gene mutations related to natural killer cells and cytotoxic T-cells, whereas the secondary type is related to other pathological causes, such as Epstein-Barr virus, bacterial or fungal infection, autoimmune conditions or autoinflammatory diseases, metabolic disorders, and cancer. In this report, we discuss a 37-day-old male who was brought to the emergency room with fever, decreased activity, and hepatosplenomegaly, with a strong family history of unknown cause of death for three siblings who died at the ages of one to two months. A whole exome sequencing confirmed the clinical diagnosis of familial HLH due to mutation in the PRF1 gene. We note the special importance of genetic counselling and antenatal screening or early neonatal screening in families affected by HLH, as this case highlights the importance of early diagnosis and intervention of primary HLH.
ABSTRACT
OBJECTIVES: To translate, validate, and adapt the diabetes distress scale (DDS)-17 to a Saudi Arabian (SA) DDS (SADDS-17). Also, to evaluate the psychometric properties of the newly adapted SADDS-17. METHODS: This was a cross-sectional study evaluating the psychometric properties of the DDS. The DDS was translated using the forward-backward translation from English to Arabic at King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia, in January 2016. Statistical analyses included exploratory factor analysis, internal consistency, testretest reliability, and construct validity. Moreover, contingent validity was evaluated using hospital anxiety and depression scale, visual analogue scale, and the World Health Organization quality of life assessment instrument. RESULTS: A total of 109 participants were included in this study. The exploratory factor analysis of our Arabic scale supported the original DDS with 4 sub-scales. Correlations ranged from 0.376 to 0.718 for items in regimen-related distress, 0.327 to 0.533 for items in emotional burden, 0.413 to 0.722 for items in physician-related distress, and 0.492 to 0.556 for items in interpersonal distress. The Cronbach's alpha value of the SADDS was 0.848 for the total scale. The test-retest reliability value was 0.78. CONCLUSION: Our SADDS is a valid and reliable instrument for detecting diabetes distress among Saudi Arabian patients with type 2 diabetes.
