BACKGROUND Alagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems.Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe...BACKGROUND Alagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems.Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe hypercholesterolemia as a result of impaired cholesterol metabolism.This report describes a patient with Alagille syndrome in whom a JAG1 mutation was detected by whole-exome sequencing.CASE SUMMARY The patient presented with severe hypercholesterolemia,biliary and hepatic impairment,pruritus,and triangular facial features.Mutations in the JAG1 gene,which encodes the Notch signaling pathway,were detected by whole-exome sequencing,leading to a diagnosis of Alagille syndrome.The patient was treated using a combination of traditional Chinese and Western medicines.Her cholesterol levels,liver function,and pruritus subsequently improved.CONCLUSION The possibility of Alagille syndrome should be considered in children who present with abnormal liver function and severe hypercholesterolemia.Genetic testing is needed to screen for disease-causing mutations and the disease can be treated with Traditional Chinese medicine.展开更多
Patients with type 1 diabetes mellitus are at high risk for disordered eating behaviors (DEB). Due to the fact that type 1 diabetes mellitus is one of the most common chronic illnesses of childhood and adolescence, th...Patients with type 1 diabetes mellitus are at high risk for disordered eating behaviors (DEB). Due to the fact that type 1 diabetes mellitus is one of the most common chronic illnesses of childhood and adolescence, the coexistence of eating disorders (ED) and diabetes often affects adolescents and young adults. Since weight management during this state of development can be especially diff icult for those with type 1 diabetes, some diabetics may restrict or omit insulin, a condition known as diabulimia, as a form of weight control. It has been clearly shown that ED in type 1 diabetics are associated with impaired metabolic control, more frequent episodes of ketoacidosis and an earlier than expected onset of diabetes-related microvascular complications, particularly retinopathy. The management of these conditions requires a multidisciplinary team formed by an endocrinologist/diabetologist, a nurse educator, a nutritionist, a psychologist and, frequently, a psychiatrist. The treatment of type 1 diabetes patients with DEB and ED should have the following compo- nents: diabetes treatment, nutritional management and psychological therapy. A high index of suspicion of the presence of an eating disturbance, particularly among those patients with persistent poor metabolic control, repeated episodes of ketoacidosis and/or weight andshape concerns are recommended in the initial stage of diabetes treatment, especially in young women. Given the extent of the problem and the severe medical risk associated with it, more clinical and technological research aimed to improve its treatment is critical to the future health of this at-risk population.展开更多
We elucidate major pathways of hepatocarcinogenesis and accurate diagnostic metabolomic biomarkers of hepatocellular carcinoma (HCC) identified by contemporary HCC metabolomics studies, and delineate a model HCC metab...We elucidate major pathways of hepatocarcinogenesis and accurate diagnostic metabolomic biomarkers of hepatocellular carcinoma (HCC) identified by contemporary HCC metabolomics studies, and delineate a model HCC metabolomics study design. A literature search was carried out on Pubmed for HCC metabolomics articles published in English. All relevant articles were accessed in full text. Major search terms included “HCC”, “metabolomics”, “metabolomics”, “metabonomic” and “biomarkers”. We extracted clinical and demographic data on all patients and consolidated the lead candidate biomarkers, pathways, and diagnostic performance of metabolomic expression patterns reported by all studies in tables. Where reported, we also extracted and summarized the metabolites and pathways most highly associated with the development of cirrhosis in table format. Pathways of lysophospholipid, sphingolipid, bile acid, amino acid, and reactive oxygen species metabolism were most consistently associated with HCC in the cited works. Several studies also elucidate metabolic alterations strongly associated with cirrhosis, with γ-glutamyl peptides, bile acids, and dicarboxylic acids exhibiting the highest capacity for stratifying cirrhosis patients from appropriately matched controls. Collectively, global metabolomic profiles of the referenced works exhibit a promising diagnostic capacity for HCC at a capacity greater than that of conventional diagnostic biomarker alpha-fetoprotein. Metabolomics is a powerful strategy for identifying global metabolic signatures that exhibit potential to be leveraged toward the screening, diagnosis, and management of HCC. A streamlined study design and patient matching methodology may improve concordance among metabolomic datasets in future works.展开更多
Background Grape and winery by-products have nutritional values for cattle and also contain functional compounds like phenols,which not only bind to protein but can also directly affect microbiota and their function i...Background Grape and winery by-products have nutritional values for cattle and also contain functional compounds like phenols,which not only bind to protein but can also directly affect microbiota and their function in the rumen.We characterized the nutritional and functional effects of grape seed meal and grape pomace as well as an effective dosage of grape phenols on ruminal microbiota and fermentation characteristics using a rumen simulation technique.Results Six diets(each n=8)were compared including a control diet(CON,no by-product),a positive control diet(EXT,CON+3.7%grape seed extract on a dry matter(DM)basis),two diets with grape seed meal at 5%(GS-low)and 10%(GS-high),and two diets with grape pomace:at 10%(GP-low)and 20%(GP-high),on a DM basis.The inclusion of the by-product supplied total phenols at 3.4%,0.7%,1.4%,1.3%,and 2.7%of diet DM for EXT,GS-low,GS-high,GP-low,and GP-high,respectively.Diets were tested in four experimental runs.All treatments decreased ammonia concentrations and the disappearances of DM and OM(P<0.05)compared to CON.EXT and GP-high lowered butyrate and odd-and branch-chain short-chain fatty acids while increased acetate compared to CON(P<0.05).Treatments did not affect methane formation.EXT decreased the abundance of many bacterial genera including those belonging to the core microbiota.GP-high and EXT consistently decreased Olsenella and Anaerotipes while increased Ruminobacter abundances.Conclusion The data suggest that the inclusion of winery by-products or grape seed extract could be an option for reducing excessive ammonia production.Exposure to grape phenols at a high dosage in an extract form can alter the rumen microbial community.This,however,does not necessarily alter the effect of grape phenols on the microbial community function compared to feeding high levels of winery by-products.This suggests the dominant role of dosage over the form or source of the grape phenols in affecting ruminal microbial activity.In conclusion,supplementing grape phenols at about 3%of diet DM is an effective dosage tolerable to ruminal microbiota.展开更多
variety of volatile organic compounds(VOCs)are produced and emitted by the human body every day.The identity and concentration of these VOCs reflect an individual’s metabolic condition.Information regarding the produ...variety of volatile organic compounds(VOCs)are produced and emitted by the human body every day.The identity and concentration of these VOCs reflect an individual’s metabolic condition.Information regarding the production and origin of VOCs,however,has yet to be congruent among the scientific community.This review article focuses on the recent investigations of the source and detection of biological VOCs as a potential for noninvasive discrimination between healthy and diseased individuals.Analyzing the changes in the components of VOC profiles could provide information regarding the molecular mechanisms behind disease as well as presenting new approaches for personalized screening and diagnosis.VOC research has prioritized the study of cancer,resulting in many research articles and reviews being written on the topic.This review summarizes the information gained about VOC cancer studies over the past 10 years and looks at how this knowledge correlates with and can be expanded to new and upcoming fields of VOC research,including neurodegenerative and other noninfectious diseases.Recent advances in analytical techniques have allowed for the analysis of VOCs measured in breath,urine,blood,feces,and skin.New diagnostic approaches founded on sensor-based techniques allow for cheaper and quicker results,and we compare their diagnostic dependability with gas chromatography-and mass spectrometry-based techniques.The future of VOC analysis as a clinical practice and the challenges associated with this transition are also discussed and future research priorities are summarized.展开更多
Helicobacter pylori(H. pylori) infection is a wellestablished risk factor for the development of gastric cancer(GC), one of the most common and deadliest neoplasms worldwide. H. pylori infection induces chronic inflam...Helicobacter pylori(H. pylori) infection is a wellestablished risk factor for the development of gastric cancer(GC), one of the most common and deadliest neoplasms worldwide. H. pylori infection induces chronic inflammation in the gastric mucosa that, in the absence of treatment, may progress through a series of steps to GC. GC is only one of several clinical outcomes associated with this bacterial infection, which may be at least partially attributed to the high genetic variability of H. pylori. The biological mechanisms underlying how and under what circumstances H. pylori alters normal physiological processes remain enigmatic. A key aspect of carcinogenesis is the acquisition of traits that equip preneoplastic cells with the ability to invade. Accumulating evidence implicates H. pylori in the manipulation of cellular and molecular programs that are crucial for conferring cells with invasive capabilities. We present here an overview of the main findings about the involvement of H. pylori in the acquisition of cell invasive behavior, specifically focusing on the epithelial-to-mesenchymal transition, changes in cell polarity, and deregulation of molecules that control extracellular matrix remodeling.展开更多
In the tropics,frequent nitrogen(N)fertilization of grazing areas can potentially increase nitrous oxide(N_(2)O)emissions.The application of nitrification inhibitors has been reported as an effective management practi...In the tropics,frequent nitrogen(N)fertilization of grazing areas can potentially increase nitrous oxide(N_(2)O)emissions.The application of nitrification inhibitors has been reported as an effective management practice for potentially reducing N loss from the soil-plant system and improving N use efficiency(NUE).The aim of this study was to determine the effect of the co-application of nitrapyrin(a nitrification inhibitor,NI)and urea in a tropical Andosol on the behavior of N and the emissions of N_(2)O from autotrophic and heterotrophic nitrification.A greenhouse experiment was performed using a soil(pH 5.9,organic matter content 78 g kg^(-1),and N 5.6 g kg^(-1))sown with Cynodon nlemfuensis at 60%water-filled pore space to quantify total N_(2)O emissions,N_(2)O derived from fertilizer,soil ammonium(NH_(4)^(+))and nitrate(NO_(3)^(-)),and NUE.The study included treatments that received deionized water only(control,NI).No significant differences were observed in soil NH_(4)^(+)content between the UR and UR+NI treatments,probably because of soil mineralization and NO_(3)^(-)produced by heterotrophic nitrification,which is not effectively inhibited by nitrapyrin.After 56 d,N_(2)O emissions in UR(0.51±0.12 mg N_(2)O-N concluded that the soil organic N mineralization and heterotrophic nitrification are the main processes of NH_(4)^(+)and NO_(3)^(-)production.Additionally,it was found that N_(2)O emissions were partially a consequence of the direct oxidation of the soil's organic N via heterotrophic nitrification coupled to denitrification.Finally,the results suggest that nitrapyrin would likely exert significant mitigation on N_(2)O emissions only if a substantial N surplus exists in soils with high organic matter content.展开更多
Urea is the most common nitrogen(N)fertilizer used in the tropics but it has the risk of high gaseous nitrogen(N)losses.Use of nitrification inhibitor has been suggested as a potential mitigation measure for gaseous N...Urea is the most common nitrogen(N)fertilizer used in the tropics but it has the risk of high gaseous nitrogen(N)losses.Use of nitrification inhibitor has been suggested as a potential mitigation measure for gaseous N losses in N fertilizer-applied fields.In a field trial on a tropical Andosol pastureland in Costa Rica,gaseous emissions of ammonia(NH_(3))and nitrous oxide(N_(2)O)and grass yield were quantified from plots treated with urea(U;41.7 kg N ha^(-1)application^(-1))and urea plus the nitrification inhibitor nitrapyrin(U+NI;41.7 kg N ha^(-1)application^(-1)and 350 g of nitrapyrin for each 100 kg of N applied)and control plots(without U and NI)over a six-month period(rainy season).Volatilization of NH_(3)(August to November)in U(7.4%±1.3%of N applied)and U+NI(8.1%±0.9%of N applied)were not significantly different(P>0.05).Emissions of N_(2)O in U and U+NI from June to November were significantly different(P<0.05)only in October,when N_(2)O emission in U+NI was higher than that in U.Yield and crude protein production of grass were significantly higher(P<0.05)in U and U+NI than in the control plots,but they were not significantly different between U and U+NI.There was no significant difference in yield-scaled N_(2)O emission between U(0.31±0.10 g N kg^(-1)dry matter)and U+NI(0.47±0.10 g N kg^(-1)dry matter).The results suggest that nitrapyrin is not a viable mitigation option for gaseous N losses under typical N fertilizer application practices of pasturelands at the study site.展开更多
The high premium placed on the organically produced cocoa in the international market coupled with its health and environmental benefits necessitated recent focus on research into the use of agricultural wastes as sou...The high premium placed on the organically produced cocoa in the international market coupled with its health and environmental benefits necessitated recent focus on research into the use of agricultural wastes as source of nutrients in cocoa (T. cacao) production. The study was carried out at the Cocoa Research Institute of Nigeria (CRIN), Ibadan (Lat. 7°25'N Long. 3°25'E), South-western, Nigeria during the 2010/2011 seedling production season to compare the effects of NPK (20:10:10) fertilizer, Cocoa Pod Husk and Oil Palm Bunch Ash (CPHA and OPA) on the seedling growth and dry matter yield of cocoa (T. cacao). Equivalent amount of different rates of two nutrients sources CPHA and OPA were applied one month after planting at 0, 1, 2, 3, 4 and 5 t/ha respectively, recommended rate of 10 kg·N of the conventional NPK (20:10:10). Fertilizer was used as reference fertilizer. Results indicated that all the fertilizer materials positively and significantly (p > 0.05) increased the growth parameters considered. The influence of the ash materials irrespective of sources on the nutrient uptake, dry matter yield of cocoa seedlings and shoot to root ratio were either higher than or had a comparable results with the reference fertilizer (NPK 20:10:10). CPHA and OPA applied at a rate of 4 t/ha significantly (p > 0.05) increased the plant height and root length of cocoa seedlings respectively relative to control and in—organic fertilizer and could therefore be recommended for the prospective and existing Nigerian cocoa farmers for raising their seedlings in the nursery before transplanting to the field.展开更多
<strong>Objective:</strong> The aim of this study was to assess the level of erythrocyte membrane cholesterol in sickle cell patients, which is one of the essential parameters of membrane fluidity that con...<strong>Objective:</strong> The aim of this study was to assess the level of erythrocyte membrane cholesterol in sickle cell patients, which is one of the essential parameters of membrane fluidity that contributes to understanding the hemolytic state of the erythrocyte. <strong>Methods: </strong>We worked with blood specimens from 20 controls and 50 sickle cell patients. The blood count and the isoelectric focusing (IEF) were performed on the samples in order to select them. The titration of the erythrocyte membrane cholesterol was made after washing and lysing the erythrocytes with the hemolyzing solution (EDTA, 2 Mercapto-Ethanol, NADP, NaOH). The cholesterol level was assessed by the enzymatic colorimetric method. The results were analyzed by Student’s test. <strong>Results: </strong>We worked with 16 control subjects with a hemoglobin status and a normal hemogram. The evaluation of the erythrocyte membrane cholesterol level of the samples allows us to define the reference interval (<em>α</em> = 0.05) at 17.55 ± 3.83 mg of cholesterol/g of hemoglobin. The erythrocyte membrane cholesterol levels of sickle cell patients found in this study were 11.58 ± 2.98 mg cholesterol/g of hemoglobin. In this study, 38 sickle cell patients (76%) were found with a low erythrocyte membrane cholesterol level compared to the reference interval. Statistical analysis showed that there was a significant difference (<em>α </em>= 5%) between the erythrocyte membrane cholesterol level of normal subjects and sickle cell patients. <strong>Conclusion: </strong>Most of the sickle cells patients had a decreased erythrocyte membrane cholesterol level. This reduces the membrane fluidity making the erythrocyte membrane rigid and more fragile. This may be one of the factors responsible for the lyses of erythrocytes.展开更多
Natural pastures constitute a major component of ruminant livestock feed, and are the most cost-effective feed resource available for smallholder subsistence farmers. However, this feed resource does not meet animal n...Natural pastures constitute a major component of ruminant livestock feed, and are the most cost-effective feed resource available for smallholder subsistence farmers. However, this feed resource does not meet animal nutritional requirement due to deficiency in nitrogen, energy and minerals. In addition, at maturity lignification is the major concern since it reduces digestibility and contributes to methane emission. Thus, the objective of this study was to evaluate the effect of supplementing low-quality Eragrostis grass hay with five (9281, 11,252, 11,255, 11,595 and 11,604) selected Stylosanthes scabra accessions on in vitro ruminal fermentation and neutral detergent fiber degradation. Therefore, in vitro study was conducted on grass hay, accessions and the mixture of grass hay with each accession included at two (15%, 30%) levels. The substrates (grass hay, accessions and the mixtures) were incubated in separate serum bottles for 72 h. Neutral detergent fiber (NDF) of the accessions ranged from 300 to 350 g/kg DM with crude protein (CP) value ranging from 177.5 to 184.1 g/kg DM. Eragrostis grass hay had NDF value of 813 g/kg DM, with CP value of 34.3 g/kg DM. Grass hay fermented slowly, it took 30 h for grass hay to produce gas volume above 50 mL, while Stylosanthes scabra accessions took 12 h. Supplementing grass hay with accessions significantly improved fermentation. However, it was observed that 15% inclusion took 30 h to produce gas volume above 50 mL, whereas at 30% inclusions it took 24 h for accession 9281, 11,595 and 11,604. Accession 11,604 improve grass fermentation by almost three times the value of grass hay in 2 h. Grass hay supplemented with accession 11,604 at 30% had a positive associative effect and significantly improved NDF degradability. In conclusion, accession 11,604 may be fed strategically as forage supplement to low-quality forage for ruminants.展开更多
A nursery experiment was conducted at Cocoa Research Institute of Nigeria to evaluate the impact of manure on cashew seedlings. Treatments consisted of biochar, compost, combination of biochar + compost and a control....A nursery experiment was conducted at Cocoa Research Institute of Nigeria to evaluate the impact of manure on cashew seedlings. Treatments consisted of biochar, compost, combination of biochar + compost and a control. Treatments were applied at rate of 0 g (control), 5 g compost, 5 g biochar and 2.5 g each of biochar and compost combination into 5 kg soil in pots, laid out in a completely randomized design (CRD) with three replications. The experiment was monitored for four months in the greenhouse. Data were collected on number of leaves, plant height, stem girth, soil nutrient composition and nutrient uptake, all analyzed using analysis of variance. The treated soils were also assayed on Potato Dextrose Agar for associated mycoflora. The study showed that the soil PH, N, P, K, Ca and Mg were equally enhanced significantly relative to the control, while Aspergillus, Trichoderma, Beauverie, Penicillium, Lasiodiplodia and Rhizopus cultured treated soils shows that Trichoderma harzianum and Beauverie bassiana were significantly higher in combination of biochar and compost treated soil and posed that their bio-control potential is coupled with soil fertility enhancement characteristics. The results also indicate that stem girth and number of leaves were significantly (P ≤ 0.05) different with respect to applied treatment at the first month after treatments application. The leaf area was not enhances with the application of biochar. Combination of biochar + compost significantly enhanced number of leaves and stem girth at the 4th and 12th weeks after planting. Similarly leaf K and P uptake were significantly (<0.05) increased by the application of organic compost and biochar irrespective of whether combined or not compared to the control seedlings. The effect of biochar and compost on cashew leaf Ca and Mg uptake were not significantly different from the control but had a higher value relative to the control. It could therefore be recommended that addition of compost and biochar for sustainable production of cashew seedlings in the nursery be embraced by prospective cashew farmers and seedlings distribution in Nigeria.展开更多
One of the main challenges facing humankind is ensuring food security for a rapidly growing population with lower environmental footprints under changing climate. Environmental unsustainability of agro-food systems is...One of the main challenges facing humankind is ensuring food security for a rapidly growing population with lower environmental footprints under changing climate. Environmental unsustainability of agro-food systems is multi-faced,but alteration of biogeochemical cycles (e.g., nitrogen (N)and phosphorus (P) cycles) and emissions of greenhouse gases (GHGs) to the atmosphere have been reported as one of the main disruptive forces over safe-operating space of planetary boundaries (Springmann et al., 2018).展开更多
Background: Type 2 diabetes mellitus (T2DM) is a chronic disease that has become a major health care concern, especially in developing countries like Pakistan. Lifestyle modification and appropriate pharmacotherapy ar...Background: Type 2 diabetes mellitus (T2DM) is a chronic disease that has become a major health care concern, especially in developing countries like Pakistan. Lifestyle modification and appropriate pharmacotherapy are shown to improve blood glucose levels, lipid abnormalities and blood pressure. It is not known how many patients adhere to advice and drugs prescribed. This study aimed to determine adherence to lifestyle and therapeutic advice. Methods: A cross sectional hospital based study was conducted among patients attending the diabetic clinic at the Aga Khan University Hospital, using a structured questionnaire. Adult patients with T2DM and with at least one year duration of diabetes were included in the study. Results: Participants were aged between 32 and 92 years old with a mean age of 55.7 years old (SD ± 10.7). Mean duration of diabetes was 10.7 years old (SD ± 7.7). Majority (94%) of the patients were literate. Around half (47.3%) of the patients have had achieved glycemic target (HbA1c < 7%). Above target glycemic control was more common among patients with ischemic heart disease (68.1%), neuropathy (64.8%) and those on insulin (62.5%). Self-reported non-adherence for blood sugar monitoring (9.5%), physical activity (61.7%), tobacco use (43.4%) and foot care (43.9%) were noted. About 25% of the participants were not fully adherent to dietary advice. None of the patients from our study reported non-adherence to medications. Good adherence to physical activity was found in males with college degree. The highest percentage of tobacco use (33.3%) was reported among businessmen. Conclusion: We noted low adherence to advice for physical activity, tobacco use and SMBG, but a high adherence to prescribed medications and insulin. This was a selected group visiting a teaching hospital. This will need to be studied further in the community and efforts are required to motivate patients.展开更多
Background:Malnutrition and malaria are both significant causes of morbidity and mortality in African children.However,the extent of their spatial comorbidity remains unexplored and an understanding of their spatial c...Background:Malnutrition and malaria are both significant causes of morbidity and mortality in African children.However,the extent of their spatial comorbidity remains unexplored and an understanding of their spatial correlation structure would inform improvement of integrated interventions.We aimed to determine the spatial correlation between both wasting and low mid upper arm circumference(MUAC)and falciparum malaria among Somalian children aged 6-59 months.Methods:Data were from 49227 children living in 888 villages between 2007 to 2010.We developed a Bayesian geostatistical shared component model in order to determine the common spatial distributions of wasting and falciparum malaria;and low-MUAC and falciparum malaria at 1×1 km spatial resolution.Results:The empirical correlations with malaria were 0.16 and 0.23 for wasting and low-MUAC respectively.Shared spatial residual effects were statistically significant for both wasting and low-MUAC.The posterior spatial relative risk was highest for low-MUAC and malaria(range:0.19 to 5.40)and relatively lower between wasting and malaria(range:0.11 to 3.55).Hotspots for both wasting and low-MUAC with malaria occurred in the South Central region in Somalia.Conclusions:The findings demonstrate a relationship between nutritional status and falciparum malaria parasitaemia,and support the use of the relatively simpler MUAC measurement in surveys.Shared spatial distribution and distinct hotspots present opportunities for targeted seasonal chemoprophylaxis and other forms of malaria prevention integrated within nutrition programmes.展开更多
Apple pomace is one of the most abundant by-product in fruit processing industry.In this work,fresh and freeze-dried apple pomace variety‘Red Delicious’apples“I.G.P.Poma de Girona”was used to evaluate the potentia...Apple pomace is one of the most abundant by-product in fruit processing industry.In this work,fresh and freeze-dried apple pomace variety‘Red Delicious’apples“I.G.P.Poma de Girona”was used to evaluate the potential amount of phenolic compounds available from the food matrix by in vitro bioaccessibility test.After the simulated digestion of freeze-dried apple pomace,an in vitro bioavailability test by using differentiated Caco-2 cells simulating the intestinal barried were assayed for 1 h,2 h,3 h and,4 h.LC-Q-TOF-MS has permitted to perform a monitoring of phloridzin,chlorogenic and gallic acids in apple pomace in apical and basal compartments.Results obtained with LC-Q-TOF-MS demonstrated that chlorogenic acid had greater percentage of bioaccesibility(44%),than phloridzin(17%)and gallic acid(7%),with similar values for fresh and freeze-dried samples.Moreover,only chlorogenic acid reported higher bioavailability in basal compartments after 3 h and 4 h,in particular about 56%of chlorogenic acid passed the transepithelial barrier.This is the first work about the evaluation of bioavailability of polyphenols from digested freeze-dried apple pomace extract.Therefore,this interesting by-product rich in polyphenol,with a great bioavailability,should be a promising ingredient to develop new functional foods.展开更多
基金Natural Science Foundation of Hebei Province,China,No.H2020209160Scientific Research Projects in Chinese Medicine of Hebei Province,China,No.2019168.
文摘BACKGROUND Alagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems.Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe hypercholesterolemia as a result of impaired cholesterol metabolism.This report describes a patient with Alagille syndrome in whom a JAG1 mutation was detected by whole-exome sequencing.CASE SUMMARY The patient presented with severe hypercholesterolemia,biliary and hepatic impairment,pruritus,and triangular facial features.Mutations in the JAG1 gene,which encodes the Notch signaling pathway,were detected by whole-exome sequencing,leading to a diagnosis of Alagille syndrome.The patient was treated using a combination of traditional Chinese and Western medicines.Her cholesterol levels,liver function,and pruritus subsequently improved.CONCLUSION The possibility of Alagille syndrome should be considered in children who present with abnormal liver function and severe hypercholesterolemia.Genetic testing is needed to screen for disease-causing mutations and the disease can be treated with Traditional Chinese medicine.
基金Supported by a grant from INCITE, Consellería Innovación e Industria, Galician Government
文摘Patients with type 1 diabetes mellitus are at high risk for disordered eating behaviors (DEB). Due to the fact that type 1 diabetes mellitus is one of the most common chronic illnesses of childhood and adolescence, the coexistence of eating disorders (ED) and diabetes often affects adolescents and young adults. Since weight management during this state of development can be especially diff icult for those with type 1 diabetes, some diabetics may restrict or omit insulin, a condition known as diabulimia, as a form of weight control. It has been clearly shown that ED in type 1 diabetics are associated with impaired metabolic control, more frequent episodes of ketoacidosis and an earlier than expected onset of diabetes-related microvascular complications, particularly retinopathy. The management of these conditions requires a multidisciplinary team formed by an endocrinologist/diabetologist, a nurse educator, a nutritionist, a psychologist and, frequently, a psychiatrist. The treatment of type 1 diabetes patients with DEB and ED should have the following compo- nents: diabetes treatment, nutritional management and psychological therapy. A high index of suspicion of the presence of an eating disturbance, particularly among those patients with persistent poor metabolic control, repeated episodes of ketoacidosis and/or weight andshape concerns are recommended in the initial stage of diabetes treatment, especially in young women. Given the extent of the problem and the severe medical risk associated with it, more clinical and technological research aimed to improve its treatment is critical to the future health of this at-risk population.
文摘We elucidate major pathways of hepatocarcinogenesis and accurate diagnostic metabolomic biomarkers of hepatocellular carcinoma (HCC) identified by contemporary HCC metabolomics studies, and delineate a model HCC metabolomics study design. A literature search was carried out on Pubmed for HCC metabolomics articles published in English. All relevant articles were accessed in full text. Major search terms included “HCC”, “metabolomics”, “metabolomics”, “metabonomic” and “biomarkers”. We extracted clinical and demographic data on all patients and consolidated the lead candidate biomarkers, pathways, and diagnostic performance of metabolomic expression patterns reported by all studies in tables. Where reported, we also extracted and summarized the metabolites and pathways most highly associated with the development of cirrhosis in table format. Pathways of lysophospholipid, sphingolipid, bile acid, amino acid, and reactive oxygen species metabolism were most consistently associated with HCC in the cited works. Several studies also elucidate metabolic alterations strongly associated with cirrhosis, with γ-glutamyl peptides, bile acids, and dicarboxylic acids exhibiting the highest capacity for stratifying cirrhosis patients from appropriately matched controls. Collectively, global metabolomic profiles of the referenced works exhibit a promising diagnostic capacity for HCC at a capacity greater than that of conventional diagnostic biomarker alpha-fetoprotein. Metabolomics is a powerful strategy for identifying global metabolic signatures that exhibit potential to be leveraged toward the screening, diagnosis, and management of HCC. A streamlined study design and patient matching methodology may improve concordance among metabolomic datasets in future works.
基金provided by the University of Veterinary Medicine Vienna (Vetmeduni Vienna)funded by Hochschuljubilaumsstiftung der Stadt Wien (project H-288490/2019)
文摘Background Grape and winery by-products have nutritional values for cattle and also contain functional compounds like phenols,which not only bind to protein but can also directly affect microbiota and their function in the rumen.We characterized the nutritional and functional effects of grape seed meal and grape pomace as well as an effective dosage of grape phenols on ruminal microbiota and fermentation characteristics using a rumen simulation technique.Results Six diets(each n=8)were compared including a control diet(CON,no by-product),a positive control diet(EXT,CON+3.7%grape seed extract on a dry matter(DM)basis),two diets with grape seed meal at 5%(GS-low)and 10%(GS-high),and two diets with grape pomace:at 10%(GP-low)and 20%(GP-high),on a DM basis.The inclusion of the by-product supplied total phenols at 3.4%,0.7%,1.4%,1.3%,and 2.7%of diet DM for EXT,GS-low,GS-high,GP-low,and GP-high,respectively.Diets were tested in four experimental runs.All treatments decreased ammonia concentrations and the disappearances of DM and OM(P<0.05)compared to CON.EXT and GP-high lowered butyrate and odd-and branch-chain short-chain fatty acids while increased acetate compared to CON(P<0.05).Treatments did not affect methane formation.EXT decreased the abundance of many bacterial genera including those belonging to the core microbiota.GP-high and EXT consistently decreased Olsenella and Anaerotipes while increased Ruminobacter abundances.Conclusion The data suggest that the inclusion of winery by-products or grape seed extract could be an option for reducing excessive ammonia production.Exposure to grape phenols at a high dosage in an extract form can alter the rumen microbial community.This,however,does not necessarily alter the effect of grape phenols on the microbial community function compared to feeding high levels of winery by-products.This suggests the dominant role of dosage over the form or source of the grape phenols in affecting ruminal microbial activity.In conclusion,supplementing grape phenols at about 3%of diet DM is an effective dosage tolerable to ruminal microbiota.
基金This work was partly supported by funds from the National Science Foundation,Award Number 2031762(A.B.)and 2031754(A.K.)。
文摘variety of volatile organic compounds(VOCs)are produced and emitted by the human body every day.The identity and concentration of these VOCs reflect an individual’s metabolic condition.Information regarding the production and origin of VOCs,however,has yet to be congruent among the scientific community.This review article focuses on the recent investigations of the source and detection of biological VOCs as a potential for noninvasive discrimination between healthy and diseased individuals.Analyzing the changes in the components of VOC profiles could provide information regarding the molecular mechanisms behind disease as well as presenting new approaches for personalized screening and diagnosis.VOC research has prioritized the study of cancer,resulting in many research articles and reviews being written on the topic.This review summarizes the information gained about VOC cancer studies over the past 10 years and looks at how this knowledge correlates with and can be expanded to new and upcoming fields of VOC research,including neurodegenerative and other noninfectious diseases.Recent advances in analytical techniques have allowed for the analysis of VOCs measured in breath,urine,blood,feces,and skin.New diagnostic approaches founded on sensor-based techniques allow for cheaper and quicker results,and we compare their diagnostic dependability with gas chromatography-and mass spectrometry-based techniques.The future of VOC analysis as a clinical practice and the challenges associated with this transition are also discussed and future research priorities are summarized.
基金Supported by Vicerrectoría de Investigación of the University of Costa Rica,No.B6A11,No.B7281 and No.90912
文摘Helicobacter pylori(H. pylori) infection is a wellestablished risk factor for the development of gastric cancer(GC), one of the most common and deadliest neoplasms worldwide. H. pylori infection induces chronic inflammation in the gastric mucosa that, in the absence of treatment, may progress through a series of steps to GC. GC is only one of several clinical outcomes associated with this bacterial infection, which may be at least partially attributed to the high genetic variability of H. pylori. The biological mechanisms underlying how and under what circumstances H. pylori alters normal physiological processes remain enigmatic. A key aspect of carcinogenesis is the acquisition of traits that equip preneoplastic cells with the ability to invade. Accumulating evidence implicates H. pylori in the manipulation of cellular and molecular programs that are crucial for conferring cells with invasive capabilities. We present here an overview of the main findings about the involvement of H. pylori in the acquisition of cell invasive behavior, specifically focusing on the epithelial-to-mesenchymal transition, changes in cell polarity, and deregulation of molecules that control extracellular matrix remodeling.
基金supported by the International Atomic Energy Agency (IAEA), Vienna, Austria through a Coordinated Research Project (No. CRP D1.50.16) of Soil and Water Management and Crop Nutrition Section, Joint FAO/IAEA Division of Nuclear Techniques in Food and Agricultureby the University of Costa Rica (No. VI-802-B7-505)
文摘In the tropics,frequent nitrogen(N)fertilization of grazing areas can potentially increase nitrous oxide(N_(2)O)emissions.The application of nitrification inhibitors has been reported as an effective management practice for potentially reducing N loss from the soil-plant system and improving N use efficiency(NUE).The aim of this study was to determine the effect of the co-application of nitrapyrin(a nitrification inhibitor,NI)and urea in a tropical Andosol on the behavior of N and the emissions of N_(2)O from autotrophic and heterotrophic nitrification.A greenhouse experiment was performed using a soil(pH 5.9,organic matter content 78 g kg^(-1),and N 5.6 g kg^(-1))sown with Cynodon nlemfuensis at 60%water-filled pore space to quantify total N_(2)O emissions,N_(2)O derived from fertilizer,soil ammonium(NH_(4)^(+))and nitrate(NO_(3)^(-)),and NUE.The study included treatments that received deionized water only(control,NI).No significant differences were observed in soil NH_(4)^(+)content between the UR and UR+NI treatments,probably because of soil mineralization and NO_(3)^(-)produced by heterotrophic nitrification,which is not effectively inhibited by nitrapyrin.After 56 d,N_(2)O emissions in UR(0.51±0.12 mg N_(2)O-N concluded that the soil organic N mineralization and heterotrophic nitrification are the main processes of NH_(4)^(+)and NO_(3)^(-)production.Additionally,it was found that N_(2)O emissions were partially a consequence of the direct oxidation of the soil's organic N via heterotrophic nitrification coupled to denitrification.Finally,the results suggest that nitrapyrin would likely exert significant mitigation on N_(2)O emissions only if a substantial N surplus exists in soils with high organic matter content.
基金funded by the International Atomic Energy Agency(IAEA),Vienna,Austria,through a Coordinated Research Project(No.CRP D1.50.16)of the Soil and Water Management and Crop Nutrition Section,Joint FAO/IAEA Division of Nuclear Techniques in FoodAgriculture and through the Technical Cooperation Project(No.COS5031)by the University of Costa Rica(No.VI-802-B7-505)。
文摘Urea is the most common nitrogen(N)fertilizer used in the tropics but it has the risk of high gaseous nitrogen(N)losses.Use of nitrification inhibitor has been suggested as a potential mitigation measure for gaseous N losses in N fertilizer-applied fields.In a field trial on a tropical Andosol pastureland in Costa Rica,gaseous emissions of ammonia(NH_(3))and nitrous oxide(N_(2)O)and grass yield were quantified from plots treated with urea(U;41.7 kg N ha^(-1)application^(-1))and urea plus the nitrification inhibitor nitrapyrin(U+NI;41.7 kg N ha^(-1)application^(-1)and 350 g of nitrapyrin for each 100 kg of N applied)and control plots(without U and NI)over a six-month period(rainy season).Volatilization of NH_(3)(August to November)in U(7.4%±1.3%of N applied)and U+NI(8.1%±0.9%of N applied)were not significantly different(P>0.05).Emissions of N_(2)O in U and U+NI from June to November were significantly different(P<0.05)only in October,when N_(2)O emission in U+NI was higher than that in U.Yield and crude protein production of grass were significantly higher(P<0.05)in U and U+NI than in the control plots,but they were not significantly different between U and U+NI.There was no significant difference in yield-scaled N_(2)O emission between U(0.31±0.10 g N kg^(-1)dry matter)and U+NI(0.47±0.10 g N kg^(-1)dry matter).The results suggest that nitrapyrin is not a viable mitigation option for gaseous N losses under typical N fertilizer application practices of pasturelands at the study site.
文摘The high premium placed on the organically produced cocoa in the international market coupled with its health and environmental benefits necessitated recent focus on research into the use of agricultural wastes as source of nutrients in cocoa (T. cacao) production. The study was carried out at the Cocoa Research Institute of Nigeria (CRIN), Ibadan (Lat. 7°25'N Long. 3°25'E), South-western, Nigeria during the 2010/2011 seedling production season to compare the effects of NPK (20:10:10) fertilizer, Cocoa Pod Husk and Oil Palm Bunch Ash (CPHA and OPA) on the seedling growth and dry matter yield of cocoa (T. cacao). Equivalent amount of different rates of two nutrients sources CPHA and OPA were applied one month after planting at 0, 1, 2, 3, 4 and 5 t/ha respectively, recommended rate of 10 kg·N of the conventional NPK (20:10:10). Fertilizer was used as reference fertilizer. Results indicated that all the fertilizer materials positively and significantly (p > 0.05) increased the growth parameters considered. The influence of the ash materials irrespective of sources on the nutrient uptake, dry matter yield of cocoa seedlings and shoot to root ratio were either higher than or had a comparable results with the reference fertilizer (NPK 20:10:10). CPHA and OPA applied at a rate of 4 t/ha significantly (p > 0.05) increased the plant height and root length of cocoa seedlings respectively relative to control and in—organic fertilizer and could therefore be recommended for the prospective and existing Nigerian cocoa farmers for raising their seedlings in the nursery before transplanting to the field.
文摘<strong>Objective:</strong> The aim of this study was to assess the level of erythrocyte membrane cholesterol in sickle cell patients, which is one of the essential parameters of membrane fluidity that contributes to understanding the hemolytic state of the erythrocyte. <strong>Methods: </strong>We worked with blood specimens from 20 controls and 50 sickle cell patients. The blood count and the isoelectric focusing (IEF) were performed on the samples in order to select them. The titration of the erythrocyte membrane cholesterol was made after washing and lysing the erythrocytes with the hemolyzing solution (EDTA, 2 Mercapto-Ethanol, NADP, NaOH). The cholesterol level was assessed by the enzymatic colorimetric method. The results were analyzed by Student’s test. <strong>Results: </strong>We worked with 16 control subjects with a hemoglobin status and a normal hemogram. The evaluation of the erythrocyte membrane cholesterol level of the samples allows us to define the reference interval (<em>α</em> = 0.05) at 17.55 ± 3.83 mg of cholesterol/g of hemoglobin. The erythrocyte membrane cholesterol levels of sickle cell patients found in this study were 11.58 ± 2.98 mg cholesterol/g of hemoglobin. In this study, 38 sickle cell patients (76%) were found with a low erythrocyte membrane cholesterol level compared to the reference interval. Statistical analysis showed that there was a significant difference (<em>α </em>= 5%) between the erythrocyte membrane cholesterol level of normal subjects and sickle cell patients. <strong>Conclusion: </strong>Most of the sickle cells patients had a decreased erythrocyte membrane cholesterol level. This reduces the membrane fluidity making the erythrocyte membrane rigid and more fragile. This may be one of the factors responsible for the lyses of erythrocytes.
文摘Natural pastures constitute a major component of ruminant livestock feed, and are the most cost-effective feed resource available for smallholder subsistence farmers. However, this feed resource does not meet animal nutritional requirement due to deficiency in nitrogen, energy and minerals. In addition, at maturity lignification is the major concern since it reduces digestibility and contributes to methane emission. Thus, the objective of this study was to evaluate the effect of supplementing low-quality Eragrostis grass hay with five (9281, 11,252, 11,255, 11,595 and 11,604) selected Stylosanthes scabra accessions on in vitro ruminal fermentation and neutral detergent fiber degradation. Therefore, in vitro study was conducted on grass hay, accessions and the mixture of grass hay with each accession included at two (15%, 30%) levels. The substrates (grass hay, accessions and the mixtures) were incubated in separate serum bottles for 72 h. Neutral detergent fiber (NDF) of the accessions ranged from 300 to 350 g/kg DM with crude protein (CP) value ranging from 177.5 to 184.1 g/kg DM. Eragrostis grass hay had NDF value of 813 g/kg DM, with CP value of 34.3 g/kg DM. Grass hay fermented slowly, it took 30 h for grass hay to produce gas volume above 50 mL, while Stylosanthes scabra accessions took 12 h. Supplementing grass hay with accessions significantly improved fermentation. However, it was observed that 15% inclusion took 30 h to produce gas volume above 50 mL, whereas at 30% inclusions it took 24 h for accession 9281, 11,595 and 11,604. Accession 11,604 improve grass fermentation by almost three times the value of grass hay in 2 h. Grass hay supplemented with accession 11,604 at 30% had a positive associative effect and significantly improved NDF degradability. In conclusion, accession 11,604 may be fed strategically as forage supplement to low-quality forage for ruminants.
文摘A nursery experiment was conducted at Cocoa Research Institute of Nigeria to evaluate the impact of manure on cashew seedlings. Treatments consisted of biochar, compost, combination of biochar + compost and a control. Treatments were applied at rate of 0 g (control), 5 g compost, 5 g biochar and 2.5 g each of biochar and compost combination into 5 kg soil in pots, laid out in a completely randomized design (CRD) with three replications. The experiment was monitored for four months in the greenhouse. Data were collected on number of leaves, plant height, stem girth, soil nutrient composition and nutrient uptake, all analyzed using analysis of variance. The treated soils were also assayed on Potato Dextrose Agar for associated mycoflora. The study showed that the soil PH, N, P, K, Ca and Mg were equally enhanced significantly relative to the control, while Aspergillus, Trichoderma, Beauverie, Penicillium, Lasiodiplodia and Rhizopus cultured treated soils shows that Trichoderma harzianum and Beauverie bassiana were significantly higher in combination of biochar and compost treated soil and posed that their bio-control potential is coupled with soil fertility enhancement characteristics. The results also indicate that stem girth and number of leaves were significantly (P ≤ 0.05) different with respect to applied treatment at the first month after treatments application. The leaf area was not enhances with the application of biochar. Combination of biochar + compost significantly enhanced number of leaves and stem girth at the 4th and 12th weeks after planting. Similarly leaf K and P uptake were significantly (<0.05) increased by the application of organic compost and biochar irrespective of whether combined or not compared to the control seedlings. The effect of biochar and compost on cashew leaf Ca and Mg uptake were not significantly different from the control but had a higher value relative to the control. It could therefore be recommended that addition of compost and biochar for sustainable production of cashew seedlings in the nursery be embraced by prospective cashew farmers and seedlings distribution in Nigeria.
文摘One of the main challenges facing humankind is ensuring food security for a rapidly growing population with lower environmental footprints under changing climate. Environmental unsustainability of agro-food systems is multi-faced,but alteration of biogeochemical cycles (e.g., nitrogen (N)and phosphorus (P) cycles) and emissions of greenhouse gases (GHGs) to the atmosphere have been reported as one of the main disruptive forces over safe-operating space of planetary boundaries (Springmann et al., 2018).
文摘Background: Type 2 diabetes mellitus (T2DM) is a chronic disease that has become a major health care concern, especially in developing countries like Pakistan. Lifestyle modification and appropriate pharmacotherapy are shown to improve blood glucose levels, lipid abnormalities and blood pressure. It is not known how many patients adhere to advice and drugs prescribed. This study aimed to determine adherence to lifestyle and therapeutic advice. Methods: A cross sectional hospital based study was conducted among patients attending the diabetic clinic at the Aga Khan University Hospital, using a structured questionnaire. Adult patients with T2DM and with at least one year duration of diabetes were included in the study. Results: Participants were aged between 32 and 92 years old with a mean age of 55.7 years old (SD ± 10.7). Mean duration of diabetes was 10.7 years old (SD ± 7.7). Majority (94%) of the patients were literate. Around half (47.3%) of the patients have had achieved glycemic target (HbA1c < 7%). Above target glycemic control was more common among patients with ischemic heart disease (68.1%), neuropathy (64.8%) and those on insulin (62.5%). Self-reported non-adherence for blood sugar monitoring (9.5%), physical activity (61.7%), tobacco use (43.4%) and foot care (43.9%) were noted. About 25% of the participants were not fully adherent to dietary advice. None of the patients from our study reported non-adherence to medications. Good adherence to physical activity was found in males with college degree. The highest percentage of tobacco use (33.3%) was reported among businessmen. Conclusion: We noted low adherence to advice for physical activity, tobacco use and SMBG, but a high adherence to prescribed medications and insulin. This was a selected group visiting a teaching hospital. This will need to be studied further in the community and efforts are required to motivate patients.
基金AMN was supported by a Wellcome Trust grant(No.:095127)that also supported DKK.DKK was also supported by a Sustaining Health award from the Wellcome Trust(No.:103926)RWS is supported as a Wellcome Trust Principal Fellow(No.:10360)JAB is supported by the Bill&Melinda Gates Foundation(No.:OPP1131320).
文摘Background:Malnutrition and malaria are both significant causes of morbidity and mortality in African children.However,the extent of their spatial comorbidity remains unexplored and an understanding of their spatial correlation structure would inform improvement of integrated interventions.We aimed to determine the spatial correlation between both wasting and low mid upper arm circumference(MUAC)and falciparum malaria among Somalian children aged 6-59 months.Methods:Data were from 49227 children living in 888 villages between 2007 to 2010.We developed a Bayesian geostatistical shared component model in order to determine the common spatial distributions of wasting and falciparum malaria;and low-MUAC and falciparum malaria at 1×1 km spatial resolution.Results:The empirical correlations with malaria were 0.16 and 0.23 for wasting and low-MUAC respectively.Shared spatial residual effects were statistically significant for both wasting and low-MUAC.The posterior spatial relative risk was highest for low-MUAC and malaria(range:0.19 to 5.40)and relatively lower between wasting and malaria(range:0.11 to 3.55).Hotspots for both wasting and low-MUAC with malaria occurred in the South Central region in Somalia.Conclusions:The findings demonstrate a relationship between nutritional status and falciparum malaria parasitaemia,and support the use of the relatively simpler MUAC measurement in surveys.Shared spatial distribution and distinct hotspots present opportunities for targeted seasonal chemoprophylaxis and other forms of malaria prevention integrated within nutrition programmes.
基金supported by Spanish Ministry of Science and Innovation PID2019-108070RB-I00ALI.Erasmus+Traineeship Grant(2019-1-IT02-KA103-061339).
文摘Apple pomace is one of the most abundant by-product in fruit processing industry.In this work,fresh and freeze-dried apple pomace variety‘Red Delicious’apples“I.G.P.Poma de Girona”was used to evaluate the potential amount of phenolic compounds available from the food matrix by in vitro bioaccessibility test.After the simulated digestion of freeze-dried apple pomace,an in vitro bioavailability test by using differentiated Caco-2 cells simulating the intestinal barried were assayed for 1 h,2 h,3 h and,4 h.LC-Q-TOF-MS has permitted to perform a monitoring of phloridzin,chlorogenic and gallic acids in apple pomace in apical and basal compartments.Results obtained with LC-Q-TOF-MS demonstrated that chlorogenic acid had greater percentage of bioaccesibility(44%),than phloridzin(17%)and gallic acid(7%),with similar values for fresh and freeze-dried samples.Moreover,only chlorogenic acid reported higher bioavailability in basal compartments after 3 h and 4 h,in particular about 56%of chlorogenic acid passed the transepithelial barrier.This is the first work about the evaluation of bioavailability of polyphenols from digested freeze-dried apple pomace extract.Therefore,this interesting by-product rich in polyphenol,with a great bioavailability,should be a promising ingredient to develop new functional foods.
