Materials and Methods: The data were obtained from the Kuwait National Primary Immunodeficiency Disorders Registry during the period of 2004-2020.
Results: A total of 313 pediatric cases of IEI, 71% diagnosed at molecular level, were registered with a cumulative follow-up period of 29,734 months. Skin manifestations were seen in 40.3% of the patients, and they were among the presenting manifestations in 33%. Patients with skin manifestations were older at both onset and diagnosis ages of IEI symptoms, but this was statistically significant for the latter only. The diagnosis delay was significantly longer in patients with skin manifestations. There was a statistically significant association between having skin manifestations and IEI category, being more common in patients with complement deficiencies, combined immunodeficiencies, and diseases of immune dysregulation. There was no statistically significant association between having skin manifestations and both gender and survival. Skin infections were the most frequent manifestations followed by eczema and autoimmune associations. Among IEI with more than 10 cases, skin lesions were a consistent finding in dedicator of cytokinesis 8 (DOCK8) deficiency, hyper IgE syndrome, ataxia-telangiectasia, and recombination activation gene (RAG)1 deficiency.
Conclusions: Skin manifestations are common in IEI patients, and they had significant diagnosis delay and referral to specialists. Improvement of awareness about IEI is needed among pediatricians and dermatologists.
MATERIALS AND METHODS: A total of 110 nasopharyngeal swabs (NPS) were collected from children aged one month to 12 years old who were admitted with ARI in UKMMC during a one-year period. The two qPCR assays were conducted in parallel.
RESULTS: Ninety-seven samples (88.2%) were positive by QIAstat-Dx RP and 86 (78.2%) by RespiFinder assay. The overall agreement on both assays was substantial (kappa value: 0.769) with excellent concordance rate of 96.95%. Using both assays, hRV/EV, INF A/H1N1 and RSV were the most common pathogens detected. Influenza A/H1N1 infection was significantly seen higher in older children (age group > 60 months old) (53.3%, p-value < 0.05). Meanwhile, RSV and hRV/EV infection were seen among below one-year-old children. Co-infections by two to four pathogens were detected in 17 (17.5%) samples by QIAstat-Dx RP and 12 (14%) samples by RespiFinder, mainly involving hRV/EV. Bacterial detection was observed only in 5 (4.5%) and 6 (5.4%) samples by QIAstat-Dx RP and RespiFinder, respectively, with Mycoplasma pneumoniae the most common detected.
CONCLUSION: The overall performance of the two qPCR assays was comparable and showed excellent agreement. Both detected various clinically important respiratory pathogens in a single test with simultaneous multiple infection detection. The use of qPCR as a routine diagnostic test can improve diagnosis and management.
METHODS: A stratified two stage cluster sampling design was used to randomly select primary and secondary sampling units. Interviews, visual acuity tests, and eye examinations on all individuals in the sampled households were performed. Estimates were weighted by factors adjusting for selection probability, non-response, and sampling coverage.
RESULTS: The overall response rate was 69% (that is, living quarters response rate was 72.8% and household response rate was 95.1%). The age adjusted prevalence of bilateral blindness and low vision was 0.29% (95% CI 0.19 to 0.39%), and 2.44% (95% CI 2.18 to 2.69%) respectively. Females had a higher age adjusted prevalence of low vision compared to males. There was no significant difference in the prevalence of bilateral low vision and blindness among the four ethnic groups, and urban and rural residents. Cataract was the leading cause of blindness (39%) followed by retinal diseases (24%). Uncorrected refractive errors (48%) and cataract (36%) were the major causes of low vision.
CONCLUSION: Malaysia has blindness and visual impairment rates that are comparable with other countries in the South East Asia region. However, cataract and uncorrected refractive errors, though readily treatable, are still the leading causes of blindness, suggesting the need for an evaluation on accessibility and availability of eye care services and barriers to eye care utilisation in the country.