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SERS-based serodiagnosis associated with intense febrile illnesses utilizing plasmonic nanopopcorn microarray systems.
Measured ventilation levels and indoor air velocities in most buildings failed to meet the American Society of Heating, Refrigerating and Air-conditioning Engineers (ASHRAE) threshold limits of 8 L/s/p and 0.18-0.25 m/s, respectively. Additionally, limited studies have investigated respiratory symptoms and SBS potentially attributable to poor ventilation in the region. It is highly recommended that future indoor air quality (IAQ) studies in GCC should focus more on epidemiologic and intervention studies.Background Pompe disease (PD) is an autosomal recessive metabolic myopathy with an average incidence of one in 40,000 live births. It has a variable age of onset and can be diagnosed within the first 3 months. Heart involvement and muscle weakness are its primary manifestations. Case presentation We describe two families affected by PD with two rare, novel variants. To date, pathogenic variants in acid α-glucosidase (GAA) alone have accounted for all cases of the disease. Both families were screened for pathogenic sequence variations. This study presents the implications of regulatory or modifier sequences in the disease pathogenesis for the first time. A homozygous missense p.Arg854Gln variant in family A and a single heterozygous variant (p.Asn925His) in family B were found to be segregating according to the disease phenotype. The variants were not detected in our in-house database comprising 50 whole-exome sequences of healthy individuals from a local unrelated Pakistani population. In silico analyses predicted that the variants would have deleterious effects on the protein structure. Conclusions The variants likely underlie the infantile-onset PD (IOPD) in these Pakistani families. The study expands the mutation spectrum of GAA associated with IOPD and highlights the insufficiency of screening the GAA coding sequence to determine the cause of IOPD. The work should be helpful in carrier identification, improving genetic counselling, and prenatal diagnosis.Background Hereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be treated with intravenous Ca (IV-Ca) via a central route. However, central catheter-related complications can cause significant morbidity. Case presentation Four unrelated patients with HVDRR presenting with rickets and alopecia totalis were administered intermittent IV-Ca treatment (2-5 times/week) through a peripheral route. No complications such as infection, extravasation or arrhythmias were detected upon peripheral infusion. Peripheral 1-22 months' duration of IV-Ca normalized parathyroid hormone (PTH) and alkaline phosphatase (ALP) in all patients, after which, oral Ca of 200-400 mg/kg/day and calcitriol of 0.5 μg/kg/day were sufficient to maintain normal PTH levels. Molecular studies on the VDR gene showed a previously reported homozygous c.454C > T (p.Q152*) pathogenic variant in two patients. Two novel homozygous variants in the other two patients were detected (1) c.756-2A > G, which affects the splice acceptor site, and (2) c.66dupG (p.I23Dfs*20) variant leading to a frameshift that results in a premature stop codon. Conclusions Peripheral IV-Ca treatment is an effective and practical alternative treatment mode that provides dramatic clinical benefit in patients with HVDRR.Background Diet plays an integral role in the maintenance of oral health, but dietary modifications due to medical problems such as phenylketonuria (PKU) can have adverse effects on oral health. This descriptive study was performed to evaluate the oral health status of children with PKU. Methods One hundred and ninety-seven patients with PKU aged between 1 and 22 years were evaluated. Clinical evaluations were performed by one experienced dentist regarding dental caries, gingival health and dental erosion. Categorical variables were assessed with descriptive statistics. Differences in feeding frequencies and sociodemographic characteristics were compared regarding dental caries using chi-square (χ2) tests. Results One hundred and thirty-two patients (67%) had dental caries. The mean plaque index (PI) and gingival index (GI) values were 1.37 ± 0.58 and 1.40 ± 0.64, respectively, which shows moderate plaque accumulation and moderate gingival inflammation. Of the patients, 85.3% did not brush their teeth regularly and 90.4% had never visited a dentist before. No statistically significant differences were found in dental caries according to feeding frequencies (p = 0.448). Conclusions Despite the high prevalence of caries in patients with PKU, most had never seen a dentist. Physicians must encourage patients with PKU and their parents to have regular dental visits to maintain an optimal general and oral health.Background With the development of infectious diseases, the use of antibiotics is increasing. Amoxicillin is a penicillin class of antibiotics that are widely used today. selleck Compliance with amoxicillin can reduce the risk of microbial resistance. Two fundamental factors that determine patient compliance in antibiotic therapy are the patient's knowledge and attitude towards the antibiotic. In this study, we want to know the effect of knowledge and attitudes of patients on their compliance in using amoxicillin antibiotics. Methods This study was an observational study with a cross section approach, a purposive sampling method by giving questionnaires to 100 respondents who received amoxicillin in Arjuno Primary Health Care, Klojen District in April 2019. Research variables include knowledge, attitudes, and patient compliance in using amoxicillin antibiotics. Data analysis was performed to determine the effect of knowledge and attitudes of patients on compliance with amoxicillin antibiotic therapy. Results The results showed that knowledge significantly influences the complience (sig = 0.00), while attitude does not significantly influence compliance in using amoxicillin antibiotics(sig = 0,136). Knowledge and attitude were known to have a significant effect on compliance with amoxicillin antibiotic therapy (sig = 0.00), the magnitude of the influence of the two variables (R2 = 16.7%). Conclusions It can be concluded that the patient's knowledge and attitude influences his compliance to antibiotic therapy.
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