BACKGROUND Wilson's disease(WD)is a rare inherited disorder of copper metabolism.Treatment consists of chelating agents,but side effects are common.We describe a patient who developed colitis during trientine trea...BACKGROUND Wilson's disease(WD)is a rare inherited disorder of copper metabolism.Treatment consists of chelating agents,but side effects are common.We describe a patient who developed colitis during trientine treatment leading to decompensation of liver cirrhosis.CASE SUMMARY A healthy 51-year-old woman was diagnosed with liver cirrhosis due to decompensation with ascites.Etiologic evaluation raised suspicion of hereditary hemochromatosis because of compound heterozygosity HFE p.C282Y/p.H63D,and phlebotomy was started.Re-evaluation showed low ceruloplasmin,increased urinary copper excretion and the presence of Kayser-Fleischer rings.WD was confirmed by genetic analysis.Because of decompensated cirrhosis,she was referred for liver transplant evaluation.Simultaneously,treatment with trientine was initiated.Liver function initially stabilized,and the patient was not accepted for a liver transplant.Shortly after this,she developed severe hemorrhagic colitis,most probably a side effect of trientine.During that episode,she decompensated with hepatic encephalopathy.Because of a second decompensating event,she was accepted for liver transplantation,and an uneventful transplantation was carried out after clinical improvement of colitis.CONCLUSION Despite WD being a rare disorder,it is important to consider because it can present with a plethora of symptoms from childhood to an elderly age.Colitis should be recognized as a serious adverse drug reaction to trientine treatment that can result in decompensated liver disease.展开更多
Background: Today’s parents belong to the digital generation and regularly use the Internet as a source of information. Parents’ quests for health-related online information comprise an effort to manage symptoms of ...Background: Today’s parents belong to the digital generation and regularly use the Internet as a source of information. Parents’ quests for health-related online information comprise an effort to manage symptoms of illness or address questions about child development which may be an expression of self-management or self-care. Purpose: This study aims to describe health and child development related Internet search patterns used by parents of children ages zero to six, and further, how the obtained information was used in contacts with Child Health Care. Design and Methods: A two-step mixed- method approach is used in this study, comprising both a quantitative and a qualitative approach. First, a questionnaire was distributed to parents (n = 800) at 13 health centers in a medium sized county in Sweden. Second, one narrative interview with two parents total was conducted. Descriptive and non-parametric statistics were calculated, and qualitative manifest content analyses were performed. Results: A total of 687 completed the questionnaire, which corresponds to a response rate of 86%. The results show that 97% used the Internet for health-related and developmental child issues. The results show that parents often look at basic tips and the Internet is seen as a fast and accessible forum to obtain information. Parents often initiated their Internet searches using Google search for the specific subject, but the most common and most used website (used by 95% of parents), was the Swedish health site 1177.se. 98.4% of parents evaluated the general information searches they made on the Internet as reliable despite only 31% of the parents checking to see if the websites they used were scientifically based. Parents (81.7%) stated that they wanted their Child Health Nurses (CHN) to give them recommendations for valid websites. Conclusions: The results in this study show that, on the one hand, the Internet could strengthen parental knowledge (support self-care capacity), but, on the other hand, the found information could worry them and increase their anxiety—negatively affected self-care capacity. The parents suggested that the information should be double-checked to establish trust and develop self-care knowledge. Having a good resource to rely on, such as personal contact with a CHN, or using reliable websites seems to strengthen and reassure parents.展开更多
Objective. Patients with ulcerative colitis (UC) have an increased risk of developing colorectal cancer (CRC). The current procedure to diminish this risk is colonoscopic surveillance and histopathological evaluation ...Objective. Patients with ulcerative colitis (UC) have an increased risk of developing colorectal cancer (CRC). The current procedure to diminish this risk is colonoscopic surveillance and histopathological evaluation of biopsy specimens. This method is not unquestioned and is undergoing continuous evaluation. The present study is a major update of an earlier reported investigation from an ongoing surveillance programme. Material and methods. In 1977 a colonoscopic surveillance programme comprising all patients with UC from a defined area was started in ? rnsk ldsvik. Three principal investigators performed regular colonoscopy with mucosal sampling for histopathological evaluation. Some 211 patients were studied from 1977 to 2002. At the end of the study period, 90 patients, including those operated on, had total colitis (TC) for more than 10 years, 74 patients had left the study, 31 after panproctocolectomy (PPC), 6 owing to advanced biological age, 1 because of intercurrent disease, 23 patients had moved out of the area and 13 patients were excluded because of poor compliance. In all, 928 colonoscopies were performed. Results. It was found that 135 patients had radiologically or morphologically defined TC and 69 patients had left-sided colitis (LC). Nine CRCs were diagnosed in 8 patients, one of whom died of CRC, while another two were included in the programme with a diagnosis of CRC. Morphological alterations classified as dysplasia or indefinite for dysplasia (ID) were found in 52 patients, 5 of whom were later found to have CRC. In total, 49 patients were operated on; in 15 of these patients the indication for surgery was dysplasia or CRC. Eighteen of the patients were operated on for different kinds of colonic resections and in 31 patients a PPC was performed. Conclusions. Colonoscopic surveillance is an effective method in preventing death from CRC among patients with UC. A conservative approach to surgery seems to be justified. The burden of the surveillance programme has been acceptable. The outcome depends on good patient compliance as well as the involvement of as few investigators as possible.展开更多
Formic acid is one of the main weak acids in lignocellulosic hydrolysates that is known to be inhibitory to yeast growth even at low concentrations.In this study,we employed a CRISPR interference(CRISPRi)strain librar...Formic acid is one of the main weak acids in lignocellulosic hydrolysates that is known to be inhibitory to yeast growth even at low concentrations.In this study,we employed a CRISPR interference(CRISPRi)strain library comprising>9000 strains encompassing>98%of all essential and respiratory growth-essential genes,to study formic acid tolerance in Saccharomyces cerevisiae.To provide quantitative growth estimates on formic acid toler-ance,the strains were screened individually on solid medium supplemented with 140 mM formic acid using the Scan-o-Matic platform.Selected resistant and sensitive strains were characterized in liquid medium supplemented with formic acid and in synthetic hydrolysate medium containing a combination of inhibitors.Strains with gR-NAs targeting genes associated with chromatin remodeling were significantly enriched for strains showing formic acid tolerance.In line with earlier findings on acetic acid tolerance,we found genes encoding proteins involved in intracellular vesicle transport enriched among formic acid sensitive strains.The growth of the strains in syn-thetic hydrolysate medium followed the same trend as when screened in medium supplemented with formic acid.Strains sensitive to formic acid had decreased growth in the synthetic hydrolysate and all strains that had im-proved growth in the presence of formic acid also grew better in the hydrolysate medium.Systematic analysis of CRISPRi strains allowed identification of genes involved in tolerance mechanisms and provided novel engineering targets for bioengineering strains with increased resistance to inhibitors in lignocellulosic hydrolysates.展开更多
文摘BACKGROUND Wilson's disease(WD)is a rare inherited disorder of copper metabolism.Treatment consists of chelating agents,but side effects are common.We describe a patient who developed colitis during trientine treatment leading to decompensation of liver cirrhosis.CASE SUMMARY A healthy 51-year-old woman was diagnosed with liver cirrhosis due to decompensation with ascites.Etiologic evaluation raised suspicion of hereditary hemochromatosis because of compound heterozygosity HFE p.C282Y/p.H63D,and phlebotomy was started.Re-evaluation showed low ceruloplasmin,increased urinary copper excretion and the presence of Kayser-Fleischer rings.WD was confirmed by genetic analysis.Because of decompensated cirrhosis,she was referred for liver transplant evaluation.Simultaneously,treatment with trientine was initiated.Liver function initially stabilized,and the patient was not accepted for a liver transplant.Shortly after this,she developed severe hemorrhagic colitis,most probably a side effect of trientine.During that episode,she decompensated with hepatic encephalopathy.Because of a second decompensating event,she was accepted for liver transplantation,and an uneventful transplantation was carried out after clinical improvement of colitis.CONCLUSION Despite WD being a rare disorder,it is important to consider because it can present with a plethora of symptoms from childhood to an elderly age.Colitis should be recognized as a serious adverse drug reaction to trientine treatment that can result in decompensated liver disease.
文摘Background: Today’s parents belong to the digital generation and regularly use the Internet as a source of information. Parents’ quests for health-related online information comprise an effort to manage symptoms of illness or address questions about child development which may be an expression of self-management or self-care. Purpose: This study aims to describe health and child development related Internet search patterns used by parents of children ages zero to six, and further, how the obtained information was used in contacts with Child Health Care. Design and Methods: A two-step mixed- method approach is used in this study, comprising both a quantitative and a qualitative approach. First, a questionnaire was distributed to parents (n = 800) at 13 health centers in a medium sized county in Sweden. Second, one narrative interview with two parents total was conducted. Descriptive and non-parametric statistics were calculated, and qualitative manifest content analyses were performed. Results: A total of 687 completed the questionnaire, which corresponds to a response rate of 86%. The results show that 97% used the Internet for health-related and developmental child issues. The results show that parents often look at basic tips and the Internet is seen as a fast and accessible forum to obtain information. Parents often initiated their Internet searches using Google search for the specific subject, but the most common and most used website (used by 95% of parents), was the Swedish health site 1177.se. 98.4% of parents evaluated the general information searches they made on the Internet as reliable despite only 31% of the parents checking to see if the websites they used were scientifically based. Parents (81.7%) stated that they wanted their Child Health Nurses (CHN) to give them recommendations for valid websites. Conclusions: The results in this study show that, on the one hand, the Internet could strengthen parental knowledge (support self-care capacity), but, on the other hand, the found information could worry them and increase their anxiety—negatively affected self-care capacity. The parents suggested that the information should be double-checked to establish trust and develop self-care knowledge. Having a good resource to rely on, such as personal contact with a CHN, or using reliable websites seems to strengthen and reassure parents.
文摘Objective. Patients with ulcerative colitis (UC) have an increased risk of developing colorectal cancer (CRC). The current procedure to diminish this risk is colonoscopic surveillance and histopathological evaluation of biopsy specimens. This method is not unquestioned and is undergoing continuous evaluation. The present study is a major update of an earlier reported investigation from an ongoing surveillance programme. Material and methods. In 1977 a colonoscopic surveillance programme comprising all patients with UC from a defined area was started in ? rnsk ldsvik. Three principal investigators performed regular colonoscopy with mucosal sampling for histopathological evaluation. Some 211 patients were studied from 1977 to 2002. At the end of the study period, 90 patients, including those operated on, had total colitis (TC) for more than 10 years, 74 patients had left the study, 31 after panproctocolectomy (PPC), 6 owing to advanced biological age, 1 because of intercurrent disease, 23 patients had moved out of the area and 13 patients were excluded because of poor compliance. In all, 928 colonoscopies were performed. Results. It was found that 135 patients had radiologically or morphologically defined TC and 69 patients had left-sided colitis (LC). Nine CRCs were diagnosed in 8 patients, one of whom died of CRC, while another two were included in the programme with a diagnosis of CRC. Morphological alterations classified as dysplasia or indefinite for dysplasia (ID) were found in 52 patients, 5 of whom were later found to have CRC. In total, 49 patients were operated on; in 15 of these patients the indication for surgery was dysplasia or CRC. Eighteen of the patients were operated on for different kinds of colonic resections and in 31 patients a PPC was performed. Conclusions. Colonoscopic surveillance is an effective method in preventing death from CRC among patients with UC. A conservative approach to surgery seems to be justified. The burden of the surveillance programme has been acceptable. The outcome depends on good patient compliance as well as the involvement of as few investigators as possible.
基金The authors would like to thank Cecilia Trivellin for providing the original R code for the analysis of the growth curves(available at https://github.com/cectri/Quantification-of-microbial-robustness.git)as well as Luca Torello Pianale for support in strain analysis.We acknowledge the Novo Nordisk Foundation(NF19OC0057685)The Swedish Research Council(Dnr 2018-04713)and the Hasselblad Foundation for financial support.
文摘Formic acid is one of the main weak acids in lignocellulosic hydrolysates that is known to be inhibitory to yeast growth even at low concentrations.In this study,we employed a CRISPR interference(CRISPRi)strain library comprising>9000 strains encompassing>98%of all essential and respiratory growth-essential genes,to study formic acid tolerance in Saccharomyces cerevisiae.To provide quantitative growth estimates on formic acid toler-ance,the strains were screened individually on solid medium supplemented with 140 mM formic acid using the Scan-o-Matic platform.Selected resistant and sensitive strains were characterized in liquid medium supplemented with formic acid and in synthetic hydrolysate medium containing a combination of inhibitors.Strains with gR-NAs targeting genes associated with chromatin remodeling were significantly enriched for strains showing formic acid tolerance.In line with earlier findings on acetic acid tolerance,we found genes encoding proteins involved in intracellular vesicle transport enriched among formic acid sensitive strains.The growth of the strains in syn-thetic hydrolysate medium followed the same trend as when screened in medium supplemented with formic acid.Strains sensitive to formic acid had decreased growth in the synthetic hydrolysate and all strains that had im-proved growth in the presence of formic acid also grew better in the hydrolysate medium.Systematic analysis of CRISPRi strains allowed identification of genes involved in tolerance mechanisms and provided novel engineering targets for bioengineering strains with increased resistance to inhibitors in lignocellulosic hydrolysates.