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Toward Correction of the Genetic Defect in Cystic Fibrosis
Published in Kenneth L. Brigham, Gene Therapy for Diseases of the Lung, 2020
Larry G. Johnson, Richard C. Boucher
Hepatobiliary disease is the second leading cause of death in CF. Expression of hepatobiliary disease is variable and includes cholestasis, focal biliary and multilobular cirrhosis, portal hypertension, and hepatic failure (5,15,16). While some researchers speculate that the frequency of overt liver disease may increase as survival increases in CF, other studies suggest that presentation of clinically overt disease peaks in adolescence (15,16).
Adenosine deaminase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Hepatic dysfunction has been observed in this disease [31, 32] and many patients have elevated serum transaminase levels; levels have improved with replacement therapy. Recurrent hepatitis has been followed by chronic hepatobiliary disease. B-cell lymphomas have been related to infection with Epstein–Barr virus.
Alcohol Pharmacology and Pharmacotherapy of Alcoholism
Published in Sahab Uddin, Rashid Mamunur, Advances in Neuropharmacology, 2020
Aman Upaganlawar, Sindhu Ramesh, Ellery Jones, Vishnu Suppiramaniam, Timothy Moore, Muralikrishnan Dhanasekaran
The above two systems produce acetaldehyde which is further oxidized by the mitochondrial enzyme NAD-dependent aldehyde dehydrogenase (ALDH) to form acetate, advances to be metabolized to CO2 and water in the liver (Edenberg, 2007). Disulfiram, a medication to manage alcohol dependence causes inhibition of this enzyme. The mechanisms that underlie hepatobiliary disease resulting from excessive alcohol use reflect an intricate blend of the metabolic factors such as: stimulation of CYP2E1, increased activation of toxin (acetaldehyde), generation of H2O2 and oxygen radicals, and perhaps heightened release of endotoxin because of alcohol’s effect on gram-negative organisms in the gastrointestinal tract. The effects of excessive use of alcohol on different organs in the body are briefed in the following section. Damage to the body tissues from malabsorption and deficiency of vitamins (A, D, thiamine) most probably reflects the poor nutritional status of alcoholics due to immuno-compromised and a variety of other generalized effects (Rossi et al., 2015).
The relationship between UGT1A1 gene & various diseases and prevention strategies
Published in Drug Metabolism Reviews, 2022
Dan Liu, Qi Yu, Qing Ning, Zhongqiu Liu, Jie Song
UGT1A1 may play an important role in preventing the development of coronary heart disease and cardiovascular disease. Due to the neurotoxicity and hepatotoxicity of bilirubin, it is only considered a metabolic toxic waste in the body. However, recent studies have shown that low levels of bilirubin are significantly associated with cardiovascular disease, which may be due to the strong antioxidant properties of bilirubin (Franchini et al. 2010). A prospective study found that (TA)7/(TA)7 genotypes had significantly higher levels of bilirubin and a lower risk of cardiovascular and cerebrovascular disease than those in the wild-type (TA)6 allele. Data developed in the past convincingly demonstrate the protective effect of a slightly elevated serum bilirubin concentration (Sung et al. 2013). But what is this slightly elevated standard? Without comprehensive investigation of other factors including smoking and drinking, it is difficult to have an accurate description. It is strongly recommended to design large-scale epidemiological studies properly. Based on these data, a clear decision limit for the lower concentration value of serum bilirubin is highly warranted. Finally, we summarized UGT1A1 related hepatobiliary diseases and prevention strategies, as shown in Table 1.
Phenotyping of IgG4-related diseases based on affected organ pattern: A multicenter cohort study using cluster analysis
Published in Modern Rheumatology, 2021
Takafumi Niwamoto, Tomohiro Handa, Shoko Matsui, Hiroshi Yamamoto, Hajime Yoshifuji, Hiroyasu Abe, Hisako Matsumoto, Yuzo Kodama, Tsutomu Chiba, Hiroshi Seno, Tsuneyo Mimori, Toyohiro Hirai
Cluster analysis is a method of classifying a set of objects into subgroups, where objects in the same groups are more similar than those in other groups. In recent years, studies have reported that cluster analyses are used to classify sarcoidosis patients, according to the pattern of affected organs in order to clarify patient characteristics or to classify the patients with interstitial pneumonia into subgroups shown to be associated with prognosis [7,8]. In IgG4-RD, cluster analysis has also been performed based on age and blood marker [9] or patterns of affected organs [10]. Wallace et al. performed cluster analysis based on affected organs in 765 multinational IgG4-RD patients and classified them into four groups: (i) pancreato-hepatobiliary disease, (ii) retroperitoneal fibrosis (RPF) and/or aortitis, (iii) head and neck-limited disease, and (iv) classic Mikulicz’s disease with systemic involvement. Female and Asians are more likely to develop head and neck-limited disease. Although the usefulness of cluster analysis based on affected organs in IgG4RD has been demonstrated, it remains unclear how many clusters are clinically meaningful and how those clusters are associated with clinical features, such as malignant complications, treatment, and outcomes.
A significant proportion of patients with choledocholithiasis have markedly elevated alanine aminotransferase
Published in Scandinavian Journal of Gastroenterology, 2019
Helgi K. Björnsson, Einar S. Björnsson
During the 12 month period, 48 patients with ALT ≥500 U/L due to CDL were identified prospectively in a previous study from our institution that aimed at characterizing the etiology of pronounced ALT (Figure 1) [13]. Five patients with ALT ≥500 U/L were found additionally in a retrospective search in a computerized diagnoses database in our institution, these patients were not identified prospectively during the former study as information about these patients had not been sent from the research lab. Additional 61 patients with CDL and lower ALT values were identified in the retrospective database search. Four patients were excluded as they did not have confirmed CDL on imaging and did not fulfill the criteria of a clinical diagnosis. No patient had a previously known hepatobiliary disease. Thus, a total of 110 patients were included in the study (Figure 1). Out of the 110 patients, 66 (60%) were of female gender. The median age was 65 (interquartile range (IQR) 48–76; range; 20–92).