Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo-dominant retinitis pigmentosa (RP). Affected individuals exhibited severe visual impairment with nyctalopia, marked constriction of visual fields, markedly reduced and delayed responses on electro-retinography (ERG) and eventual loss of central vision. Combined copy-number variant (CNV) analysis, haplotype reconstruction and WES of the kindred identified two distinct novel mutations in EYS (RP25): a p.(W1817*) nonsense mutation (identified through WES) and a large deletion encompassing 9 of the 43 exons, that was missed by WES and was identified through microarray CNV analysis. Segregation analysis of both mutations demonstrated that all affected individuals were either homozygous for one of the mutations, or compound heterozygous for both. The two mutations are predicted to cause loss of function of the encoded protein and were not present in screening of 200 ethnically-matched controls. Our findings of two distinct mutations in the same gene in a single inbred kindred, identified only through combined WES and microarray CNV analysis, highlight the limitations of either CNV or WES alone, as the heterozygous deletion had normal WES read-depth values. Moreover, they demonstrate pitfalls in homozygosity mapping for disease-causing variant identification in inbred communities.
Background Numerous studies have confirmed the association of ambient temperature and air pollution with a higher risk of morbidities, yet few have addressed their effect on the ocular system. The purpose of this study was to assess the association between temperature, air pollution, and emergency room visits for conjunctivitis. Methods In this case-crossover study, the records of all emergency room visits to Soroka University Medical Center (SUMC) from 2009 to 2014 were reviewed for patients with conjunctivitis. Daily exposure to fine and coarse particulate matter and temperature were determined by a hybrid model involving satellite sensors. Mean relative humidity was obtained from the Ministry of Environmental Protection meteorological monitoring station located in Beer-Sheva. Results Six hundred one patients were diagnosed with conjunctivitis in the SUMC emergency room. We discovered a positive association between temperature increments and incidence of conjunctivitis. The strongest effect was found during summer and autumn, with an immediate (lag0) incidence increase of 8.1% for each 1 °C increase in temperature (OR = 1.088, 95%CI: 1.046–1.132) between 24 and 28 °C in the summer and 7.2% for each 1 °C increase in temperature (OR = 1.072, 95%CI: 1.036–1.108) between 13 and 23 °C in the autumn. There was no statistically significant association between fine and coarse particulate matter and conjunctivitis incidence. Conclusion Temperature increases during summer and autumn are significantly associated with an increased risk of conjunctivitis. Conjunctivitis is not associated with non-anthropogenic air pollution. These findings may help community clinics and hospital emergency rooms better predict conjunctivitis cases and will hopefully lead to improved prevention efforts that will lower the financial burden on both the individual and the public.
Background Numerous studies have confirmed that ambient temperature and air pollution are associated with higher risk of morbidities to different systems of the human body, yet few have addressed their effect on the ocular system. The purpose of this study is to determine the association between temperature, air pollution and emergency room visits for non-specific conjunctivitis Methods In this retrospective cohort study, the records of all emergency room visits to Soroka University Medical Center (SUMC) from 2009 to 2014 were reviewed for patients with conjunctivitis. Exposure to fine and coarse particulate matter and temperature were assessed by a hybrid model that incorporated daily satellite remote sensing. Results The records of the 6001 patients who visited the SUMC emergency room with conjunctivitis, together with the meteorological data, revealed a positive association between temperature increment and incidence of conjunctivitis. The strongest effect was found during summer and autumn: the incidence increased 8.1% for each 1oC rise in temperature between 24oC and 28oC in the summer, and 7.2% for each 1oC rise in temperature between 13oC and 23oC in autumn. The association between fine and coarse particulate matter and incidence of conjunctivitis was not statistically significant. Conclusion High ambient temperature is significantly associated with an increased risk of nonspecific conjunctivitis in summer and autumn and not in spring and winter. Conjunctivitis is not associated with air pollution. The findings can assist community clinics and hospital emergency rooms prepare for the upticks in the condition during certain seasons and acute rises in temperatures, lowering the financial costs to both the individual and the public.
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Background: Numerous studies have confirmed the association of ambient temperature and air pollution with a higher risk of morbidities, yet few have addressed their effect on the ocular system. The purpose of this study was to assess the association between temperature, air pollution, and emergency room visits for conjunctivitis.Methods: In this case-crossover study, the records of all emergency room visits to Soroka University Medical Center (SUMC) from 2009 to 2014 were reviewed for patients with conjunctivitis. Daily exposure to fine and coarse particulate matter and temperature were determined by a hybrid model involving satellite sensors.Results: 6001 patients were diagnosed with conjunctivitis in the SUMC emergency room. We discovered a positive association between temperature increments and incidence of conjunctivitis. The strongest effect was found during summer and autumn, with an immediate (lag0) incidence increase of 8.1% for each 1 °C increase in temperature (OR 1.088 95%CI 1.046;1.132) between 24 and 28 °C in the summer and 7.2% for each 1 °C increase in temperature (OR 1.072 95%CI 1.036;1.108) between 13 and 23 °C in the autumn. There was no statistically significant association between fine and coarse particulate matter and conjunctivitis incidence.Conclusion: Temperature increases during summer and autumn are significantly associated with an increased risk of conjunctivitis. Conjunctivitis is not associated with non-anthropogenic air pollution. These findings may help community clinics and hospital emergency rooms better predict conjunctivitis cases and will hopefully lead to improved prevention efforts that will lower the financial burden on both the individual and the public.
Background Numerous studies have confirmed that ambient temperature and air pollution are associated with higher risk of morbidities to different systems of the human body, yet few have addressed their effect on the ocular system. The purpose of this study is to determine the association between temperature, air pollution and emergency room visits for non-specific conjunctivitis Methods In this retrospective cohort study, the records of all emergency room visits to Soroka University Medical Center (SUMC) from 2009 to 2014 were reviewed for patients with conjunctivitis. Exposure to fine and coarse particulate matter and temperature were assessed by a hybrid model that incorporated daily satellite remote sensing. Results The records of the 6001 patients who visited the SUMC emergency room with conjunctivitis, together with the meteorological data, revealed a positive association between temperature increment and incidence of conjunctivitis. The strongest effect was found during summer and autumn: the incidence increased 8.1% for each 1oC rise in temperature between 24oC and 28oC in the summer, and 7.2% for each 1oC rise in temperature between 13oC and 23oC in autumn. The association between fine and coarse particulate matter and incidence of conjunctivitis was not statistically significant. Conclusion High ambient temperature is significantly associated with an increased risk of nonspecific conjunctivitis in summer and autumn and not in spring and winter. Conjunctivitis is not associated with air pollution. The findings can assist community clinics and hospital emergency rooms prepare for the upticks in the condition during certain seasons and acute rises in temperatures, lowering the financial costs to both the individual and the public.
Background: Numerous studies have confirmed the association of ambient temperature and air pollution with a higher risk of morbidities, yet few have addressed their effect on the ocular system. The purpose of this study was to assess the association between temperature, air pollution, and emergency room visits for conjunctivitis.Methods: In this case-crossover study, the records of all emergency room visits to Soroka University Medical Center (SUMC) from 2009 to 2014 were reviewed for patients with conjunctivitis. Daily exposure to fine and coarse particulate matter and temperature were determined by a hybrid model involving satellite sensors.Results: 6001 patients were diagnosed with conjunctivitis in the SUMC emergency room. We discovered a positive association between temperature increments and incidence of conjunctivitis. The strongest effect was found during summer and autumn, when the incidence increased 8.1% for each 1oC rise in temperature between 24 and 28oC in the summer and 7.2% for each 1oC rise in temperature between 13 and 23oC in the autumn. There was no statistically significant association between fine and coarse particulate matter and conjunctivitis incidence.Conclusion: Temperature increases during summer and autumn are significantly associated with an increased risk of conjunctivitis. Conjunctivitis is not associated with non-anthropogenic air pollution. These findings may help community clinics and hospital emergency rooms better predict conjunctivitis cases and will hopefully lead to improved prevention efforts that will lower the financial burden on both the individual and the public.
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