Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy. Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30% of cases where mutations were identified. We clinically evaluated a large group of 147 consecutive HCM patients from three cardiology centers in Germany, Poland, and Kyrgyzstan according to the same protocol. The DNA of the patients was systematically analyzed in the whole coding region of the MYH7 gene using PCR, single-strand conformation polymorphism analysis, and automated sequencing. Eleven different missense mutations (including seven novel ones) in 11 unrelated patients were identified, showing a mutation frequency of 7.5% in the study population. We further examined the families of five patients (three of German, one of Polish, and one of Kyrgyz origin) with 32 individuals in total. We observed a clear, age-dependent penetrance with onset of disease symptoms in the fourth decade of life. Genotype-phenotype correlations were different for each mutation, whereas the majority was associated with an intermediate/malign phenotype. In conclusion, we report a systematic molecular screening of the complete MYH7 gene in a large group of consecutive HCM patients, leading to a genetic diagnosis in 38 individuals. Information about the genotype in an individual from one family could be very useful for the clinician, especially when dealing with healthy relatives in doubt of their risk about developing HCM. The increasing application of genetic screening and the increasing knowledge about genotype-phenotype correlations will hopefully lead to an improved clinical management of HCM patients.
Background:
Allergic rhinitis (AR) is a common chronic health problem in the United Arab Emirates (UAE). Achieving adequate symptom control is pivotal to successful AR management, which may be attained following a stepwise treatment algorithm. Despite the availability of several guideline recommendations for the best management of AR, morbidity remains high in patients with AR, with treatment goals being far from the reach.
Objective:
The objective of this consensus statement was to discuss the currently available knowledge on the treatment of AR and to provide an expert opinion on the use of MP-AzeFlu (azelastine HCl, AZE; 137 µg per spray) and INCS (fluticasone propionate, FP; 50 µg per spray) for the effective management of AR in the UAE.
Methods:
A consensus meet involving 13 otorhinolaryngologists and one pulmonologist was held in Dubai, UAE, to discuss the current understanding on the treatment and management of AR.
Results:
The panel advised to start AR pharmacotherapy with antihistamines (AH), leukotriene receptor antagonist (LTRA), INCS or MP-AzeFlu based on the visual analogue scale (VAS) score. In mild intermittent AR (VAS score <5/10), AH or LTRA is recommended as first-line therapy. However, in case of VAS score ≥5/10 or persistent AR, and treatment failure with AHs alone, INCS or MP-AzeFlu is recommended followed by reassessment for 7 days to confirm a step-up or step-down down therapy. Patients non-responsive to therapy were advised to step-up with MP-AzeFlu.
Conclusion:
The panel advocated a combination of intranasal second-generation AH and INCS in a single device (Dymista®) as first-line therapy for the management of AR. The algorithm provided herein can be applied in most healthcare settings by following a step-up or step-down strategy based on the VAS scores for AR control in the UAE.
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