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The frequency of beta-thalassaemia in India ranges from 3.5% to 15% in the general population and of the 100,000 children born with thalassaemia major in the world, 10,000 are in India alone. Affected children do not die immediately, but treatment by regular transfusion is costly and leads to iron overload and death. Therefore, health services in lower-economic countries can sustain patients only if the numbers can be limited. Detecting carrier couples by simple blood test can prevent thalassaemia and at-risk couples can be identified and informed of their genetic risk before having children. A prevention programme including population screening, counselling, and prenatal diagnosis will markedly reduce the birth prevalence of affected individuals. Hemoglobin A2 (HbA2) measurement in human hemolysates has great significance, since its level can indicate beta-thalassaemia carrier status in otherwise healthy individuals. We have developed a rapid, simple, and inexpensive enzyme linked immunosorbent assay (ELISA) for the quantitation of HbA2, which can be used in carrier screening programmes in developing countries like India. In a limited trial for beta-thalassaemia carrier screening, the results obtained with ELISAs were compared with those obtained with the microcolumn chromatography method (r = 0.89).

Purpose of reviewThe global prevalence of asthma continues to increase; however, asthma remains under-diagnosed and under-treated. This results in a significant burden on the healthcare system and preventable patient morbidity and mortality. Over-diagnosis of asthma based on clinical history alone also complicates patient management. This heightens the importance of a prompt and accurate asthma diagnosis. Therefore, a review of the literature was performed regarding both objective diagnostic testing for asthma and using patient-reported outcome measures. Recent findingsThe cornerstone of asthma diagnosis remains spirometry with testing for bronchodilator reversibility testing for pediatric and adult populations. This test may need to be repeated at multiple time points due to its low sensitivity. Peak flow measurement, fractional exhaled nitric oxide testing, and allergy testing are useful adjuncts to the diagnosis and phenotyping of asthma. Bronchoprovocation testing is reserved for people with high clinical suspicion for asthma, but negative spirometry. Novel noninvasive testing modalities may play a diagnostic role in the future. The advent of remote digital health monitoring technology has resulted in revisiting patient-reported outcome measures for the diagnosis and monitoring of asthma. SummaryOverall, improved diagnostic tools for asthma are crucial for earlier recognition and treatment of the disease and improved patient care outcomes worldwide.

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Molecular diagnosis of Fragile X Syndrome (FXS) is carried out by PCR or Southern blot analysis on DNA isolated from leukocytes. These DNA analyses are time consuming and expensive, making it impractical for mass screening programs. We have recently standardized and tested the diagnostic potential of a rapid antibody test on blood smears, based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes in patients with FXS. This test is essentially similar to the one developed at Erasmus University in the Netherlands, with suitable modifications. The diagnostic power of the antibody test is perfect for males, whereas the results are less specific for females. The cutoff value for affected male individuals, expressed as the percentage of FMRP-positive cells, was 20%. In normal individuals, the cutoff value was 85%. The results of the antibody test correlated well with that of Southern blots. Sensitivity of the test was 100% and specificity was 97.5%. This noninvasive test requires one or two drops of blood and is rapid, simple, and cheap, making it an ideal choice for large screening large groups of male mental retardates and neonates for FXS in developing countries such as India.

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, our tertiary care pediatric academic center initiated a Complex Asthma Clinic (CAC) to provide comprehensive outpatient care by allergists to at-risk children with prior asthmarelated Emergency Department (ED) visits/hospitalizations. METHODS: A patient registry was created for children evaluated in the CAC between 2011 and June 30, 2017, followed by a retrospective review of asthma-related ED visits/hospitalizations in the year before and year after initial evaluation. RESULTS: Two-hundred and sixty-two patients completed at least one CAC visit (mean53.9+3.5 visits); mean age56.3+4 years, 67% (N5176) male, 50% (N5132) African American, and 73% (N5190) receiving Medicaid. Prior to CAC evaluation, 85% (N5222) of children were prescribed asthma controller medication, 75% (N5166) of which were medium or higher dose inhaled corticosteroids. Previous to CAC evaluation, lung function testing had been performed in 23% (N536) of children >5 years old and 10% (N525) had previous allergy testing performed. At initial CAC evaluation, 86% (N5226) were prescribed additional medications and/or higher dosages of existing therapy. While receiving care within the CAC, 75% (N5201) of children underwent skin prick testing, with 93% (N5186) being positive to at least one aeroallergen (57% any indoor, 51% any outdoor). Comparing the year before to the year after the initial visit, children evaluated in CAC had a 47% reduction in ED visits (mean51.1 vs. 0.6; P<0.0001) and 44% reduction in hospitalizations (mean50.4 vs. 0.2; P<0.01). CONCLUSIONS: Children with a history of ED visits or hospitalizations for asthma benefited from specialty evaluation and management by allergists in an outpatient specialty asthma clinic.