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1.
Medicina (Kaunas) ; 59(1)2023 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-36676731

RESUMEN

This cross-sectional observation study investigated the vitamin D (VD) status in Taiwanese pregnant women and the effects of VD supplementation and macronutrient intake on serum 25-hydroxy-vitamin D (25[OH]D) level. Data on VD intake, daily sunlight exposure, and carbohydrate intake were obtained from 125 pregnant women at 30−37 weeks' gestation. Serum 25[OH]D level was measured before delivery in all enrolled women; and the mean 25(OH)D level was 43 nmol/L or 17.2 ng/mL. The 25(OH)D level was significantly correlated with total VD intake of pregnant women (r = 0.239; p = 0.007). The severe VD deficiency group (n = 16; mean of 25(OH)D level = 8.5 ng/mL) had significantly lower total VD intake and supplementation than the groups with VD deficiency (n = 69), insufficiency (n = 32), and sufficiency (n = 8). Those with ≥400 IU/day total VD intake (including VD from food and supplementation) had significantly higher 25(OH)D concentration than those with <400 IU/day total VD intake. Those with 400 IU/day VD supplementation could significantly increase serum 25(OH)D concentrations for pregnant women. Among 85 pregnant women with carbohydrate intake of ≥300 g/day, serum 25(OH)D levels were negatively correlated with carbohydrate intake (p = 0.031). In conclusion, VD deficiency was highly prevalent in Taiwanese pregnant women. VD supplementation was the most effective method for increasing 25(OH)D concentration in pregnant women. Higher carbohydrate intake might reduce 25(OH)D levels.


Asunto(s)
Mujeres Embarazadas , Deficiencia de Vitamina D , Femenino , Humanos , Embarazo , Estudios Transversales , Suplementos Dietéticos , Vitamina D/uso terapéutico , Deficiencia de Vitamina D/complicaciones , Vitaminas , Carbohidratos
2.
BMC Pediatr ; 21(1): 157, 2021 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-33789621

RESUMEN

BACKGROUND: Kawasaki disease (KD) is a form of systemic febrile vasculitis that is complicated with coronary artery lesions (CAL). The tight junctions that maintain the intestinal barrier also play a role in systemic inflammatory diseases. Serum zonula occludens-1 (ZO-1) expression was found to be significantly lower in asthmatic patients, and another study reported that elevated systemic ZO-1 was positively correlated with inflammation in cirrhotic patients. A murine model of KD vasculitis demonstrated that vasculitis depended on intestinal barrier dysfunction, which is maintained by tight junctions. In this study, we aimed to investigate the role of the tight junction zonula occludens-1 (ZO-1) in the treatment response of intravenous immunoglobulin (IVIG) and the occurrence of CAL formation in KD patients. METHODS: We enrolled 40 KD patients, 12 healthy controls, and 12 febrile controls in this study. The serum levels of tight junction ZO-1 were determined by enzyme-linked immunosorbent assay. RESULTS: The serum ZO-1 level was higher in the fever control group but did not reach a statistical significance. KD patients who received a second dose of IVIG treatment due to initial IVIG unresponsiveness had a higher serum levels of tight junction ZO-1, but without statistical significance (2.15 ± 0.18 vs. 2.69 ± 0.31 ng/mL, p = 0.058). KD patients who developed a CAL demonstrated a significant lower serum tight junction ZO-1 levels than KD without CAL formation (1.89 ± 0.16 vs. 2.39 ± 0.15 ng/mL, p = 0.027). After multiple logistic regression analysis, ZO-1 levels [(95% confidence interval (CI): 0.058 ~ 0.941, odds ratio (OR) = 0.235, p = 0.041)] showed as the risk factor for CAL formation. CONCLUSION: Serum levels of tight junction ZO-1 levels were lower in KD patients than fever controls and associated with CAL formation.


Asunto(s)
Síndrome Mucocutáneo Linfonodular , Uniones Estrechas , Animales , Vasos Coronarios , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Ratones , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Proteína de la Zonula Occludens-1
3.
J Gastroenterol Hepatol ; 35(5): 806-814, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31674687

RESUMEN

BACKGROUND AND AIM: Intestinal mucositis remained one of the most deleterious complications in cancer patients undergoing chemotherapy. 5-FU treatment was reported to affect the abundance of gut microbiota and cause mucositis, which might be ameliorated by probiotics. We investigate the potential changes of 5-FU treatment and the modulations of probiotics on gut microbiota in a mouse model. METHODS: Male BALB/c mice received either 5-FU or saline (S). They were separated and fed saline, Lactobacillus casei variety rhamnosus (Lcr) and Lactobacillus reuteri DSM 17938 (BG). Lcr and BG were simultaneously administered with 5-FU for 5 days. Stool specimens were collected for DNA extraction and pyrosequenced for bioinformatic analysis. RESULTS: Fecal microbial communities were obviously diverse. Bacteroides and Bacteroidaceae were the most abundant microbiota in FU.BG group while S24_7 was the most in S.S group. At phylum and class levels, abundances of Betaproteobacteria, Erysipelotrichi, Gammaproteobacteria, and Verrucomicrobia were significantly increased in the FU groups. Probiotics supplementation did increase the abundances of Enterobacteriales and Turicibacterales. We demonstrated that probiotics did modulate the abundance and diversity of gut microbiota. Bacterial motility proteins were found enriched and upregulated in the S.BG group. No mortality was noted. No bacterial translocation was found in spleen and blood among the six groups. CONCLUSION: Gut microbiota of mice undergoing chemotherapy exhibited a distinct disruption in bacterial composition. Probiotic did modulate the abundance and diversity of gut microbiota. This is the first study to analyze the effects and safety of Lactobacillus strains on 5-FU-induced mucositis systematically and assess changes in the intestinal microbiota after probiotic intervention.


Asunto(s)
Antimetabolitos Antineoplásicos/efectos adversos , Fluorouracilo/efectos adversos , Enfermedades Gastrointestinales/inducido químicamente , Enfermedades Gastrointestinales/microbiología , Microbioma Gastrointestinal/efectos de los fármacos , Mucosa Intestinal/microbiología , Lactobacillus , Mucositis/inducido químicamente , Mucositis/microbiología , Probióticos/uso terapéutico , Animales , Suplementos Dietéticos , Modelos Animales de Enfermedad , Enfermedades Gastrointestinales/terapia , Masculino , Ratones Endogámicos BALB C , Mucositis/terapia
4.
Int J Mol Sci ; 21(2)2020 Jan 08.
Artículo en Inglés | MEDLINE | ID: mdl-31936237

RESUMEN

FOLFOX (5-fluorouracil, leucovorin, and oxaliplatin), a 5-fluorouracil (5-FU)-based chemotherapy regimen, is one of most common therapeutic regimens for colorectal cancer. However, intestinal mucositis is a common adverse effect for which no effective preventive strategies exist. Moreover, the efficacy and the safety of fecal microbiota transplants (FMT) in cancer patients treated with anti-neoplastic agents are still scant. We investigated the effect of FMT on FOLFOX-induced mucosal injury. BALB/c mice implanted with syngeneic CT26 colorectal adenocarcinoma cells were orally administered FMT daily during and two days after five-day injection of FOLFOX regimen for seven days. Administration of FOLFOX significantly induced marked levels of diarrhea and intestinal injury. FMT reduced the severity of diarrhea and intestinal mucositis. Additionally, the number of goblet cells and zonula occludens-1 decreased, while apoptotic and NF-κB-positive cells increased following FOLFOX treatment. The expression of toll-like receptors (TLRs), MyD88, and serum IL-6 were upregulated following FOLFOX treatment. These responses were attenuated following FMT. The disrupted fecal gut microbiota composition was also restored by FMT after FOLFOX treatment. Importantly, FMT did not cause bacteremia and safely alleviated FOLFOX-induced intestinal mucositis in colorectal cancer-bearing mice. The putative mechanism may involve the gut microbiota TLR-MyD88-NF-κB signaling pathway in mice with implanted colorectal carcinoma cells.


Asunto(s)
Neoplasias Colorrectales/tratamiento farmacológico , Trasplante de Microbiota Fecal , Enfermedades Intestinales/prevención & control , Intestinos/microbiología , Animales , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/farmacología , Apoptosis/efectos de los fármacos , Línea Celular Tumoral , Neoplasias Colorrectales/complicaciones , Neoplasias Colorrectales/microbiología , Neoplasias Colorrectales/patología , Modelos Animales de Enfermedad , Fluorouracilo/efectos adversos , Fluorouracilo/farmacología , Microbioma Gastrointestinal/efectos de los fármacos , Microbioma Gastrointestinal/genética , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Xenoinjertos , Humanos , Enfermedades Intestinales/inducido químicamente , Enfermedades Intestinales/microbiología , Enfermedades Intestinales/patología , Intestinos/efectos de los fármacos , Intestinos/lesiones , Leucovorina/efectos adversos , Leucovorina/farmacología , Ratones , Compuestos Organoplatinos/efectos adversos , Compuestos Organoplatinos/farmacología , Oxaliplatino/efectos adversos , Oxaliplatino/farmacología , Receptores Toll-Like/genética
5.
J Pediatr Gastroenterol Nutr ; 68(1): e7-e12, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30358742

RESUMEN

OBJECTIVE: Pediatric acute pancreatitis (AP) may be different from adult AP in various respects. This study focuses on the epidemiology and medical resource use of pediatric AP in Taiwan. METHODS: Patients aged 0 to 18 years with AP were identified from the Taiwan National Health Insurance Research Database based on the International Classification of Diseases, Ninth Revision code of AP 577.0. The medical resource use was measured by length of hospital stay and hospital charges. RESULTS: Between 2000 and 2013, a total of 2127 inpatient cases of pediatric AP were collected, which represented a hospitalization rate of 2.83 per 100,000 population. The incidence by age had 2 peaks, the first peak was at age 4 to 5 years old, and the second one started rising from 12 to 13 years old until adulthood. The incidence by year increased from 2.33 to 3.07 cases per 100,000 population during the study period. The average hospital stay is steady, but the medical cost is increasing. Girls have longer hospital stays, higher medical expenditures, more use of endoscopic retrograde cholangiopancreatography possibly due to more comorbidities with biliary tract diseases than boys (P < 0.05). The mortality in cases of AP is mostly associated with systemic diseases rather than AP itself. CONCLUSIONS: The incidence of pediatric AP in Taiwan is in a rising trend. There are gender differences in length of hospital stay, medical costs, use of endoscopic retrograde cholangiopancreatography and comorbidities.


Asunto(s)
Pancreatitis/epidemiología , Enfermedad Aguda , Adolescente , Niño , Preescolar , Colangiopancreatografia Retrógrada Endoscópica/estadística & datos numéricos , Bases de Datos Factuales , Femenino , Precios de Hospital/estadística & datos numéricos , Humanos , Incidencia , Lactante , Recién Nacido , Tiempo de Internación/estadística & datos numéricos , Masculino , Pancreatitis/economía , Factores de Riesgo , Factores Sexuales , Taiwán/epidemiología
6.
J Proteome Res ; 16(10): 3504-3513, 2017 10 06.
Artículo en Inglés | MEDLINE | ID: mdl-28823169

RESUMEN

Diabetic cardiomyopathy is a well-recognized complication of diabetes, but its pathophysiology is unclear. We aimed to investigate the mechanisms underlying cardiac dysfunction in an elderly type 2 diabetic (T2DM) mouse model, using membrane proteomic analyses. Elderly mice were fed a high fat diet for 12 weeks to induce T2DM, and myocardial structure and function were assessed by echocardiography. Cardiomyocytes were isolated by Langendorff perfusion and subjected to iTRAQ-based quantitative membrane proteomic profiling, immunoblotting, and real-time quantitative reverse-transcriptase polymerase chain reaction. Compared to controls, elderly T2DM mice showed worse systolic function, more myocardial fibrosis and up-regulation of several heart failure markers (all p < 0.05). Cardiomyocyte membrane proteomic profiling revealed that 417 proteins had differential expressions related to perturbations in several biological processes in T2DM mice compared with the control. The most up-regulated proteins were involved in oxidative phosphorylation, whereas many down-regulated proteins were involved in cytoskeletal regulation. Differential protein expression correlated with myocardial systolic velocity by tissue Doppler. In addition, cardiomyocyte immunofluorescence staining showed greater disorganization of thick/parallel F-actin stress fibers and marked reduction in F-to-G-actin ratio in T2DM vs control (p < 0.05), which paralleled worsened myocardial systolic velocity. We concluded that cardiac contractile dysfunction in elderly T2DM mice was associated with impaired energetics and cytoskeletal disorganization.


Asunto(s)
Diabetes Mellitus Tipo 2/genética , Cardiomiopatías Diabéticas/genética , Proteínas de la Membrana/genética , Proteómica , Actinas/genética , Actinas/metabolismo , Animales , Citoesqueleto/genética , Citoesqueleto/metabolismo , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/patología , Cardiomiopatías Diabéticas/patología , Dieta Alta en Grasa/efectos adversos , Modelos Animales de Enfermedad , Metabolismo Energético/genética , Fibrosis/genética , Fibrosis/patología , Regulación de la Expresión Génica/genética , Humanos , Ratones , Miocardio/metabolismo , Miocardio/patología , Miocitos Cardíacos/metabolismo , Miocitos Cardíacos/patología
7.
J Med Ultrasound ; 25(2): 109-114, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-30065470

RESUMEN

We report a 7-year-old Taiwanese girl with acute pancreatitis (AP) complicated with pseudocyst (PC). The girl was found to have a PC by ultrasonograpgy (USG) and magnetic resonance imaging 14 days after the onset of AP. The girl was discharged 21 days after management with an asymptomatic PC. The diagnostic criteria of AP included abdominal pain, serum amylase or lipase level, and imaging findings. Transabdominal USG after appropriate preparation with adequate fasting, intake of some liquids during the scanning, and right decubitus position enhance the demonstration of pancreas and peripancreatic structures. PC could be seen in up to 38% of pediatric AP patients. It can form within 2 weeks after the onset of symptoms, although most are late complications. Pancreatic PCs have to be differentiated from other intra-abdominal cysts on USG according to their image character and anatomic location. A well-prepared USG examination in combination with liquid intake and right decubitus position is of value in the diagnosis and follow-up of PC. Abbreviations: ANC, acute necrotic collection; AP, acute pancreatitis; APFC, acute peripancreatic fluid collection; CECT, contrast-enhanced computed tomography; CRP, C-reactive protein; CT, computed tomography; MRI, magnetic resonance imaging; PAP, pediatric acute pancreatitis; PC, pseudocyst; USG, ultrasonography.

8.
BMC Infect Dis ; 15: 240, 2015 Jun 23.
Artículo en Inglés | MEDLINE | ID: mdl-26100919

RESUMEN

BACKGROUND: Prior to the introduction of rotavirus vaccines, rotavirus was the leading cause of severe gastroenteritis in infants and young children, and it continues to be the leading cause in countries without vaccination programs. Rotavirus gastroenteritis results in substantial economic burden and has a pronounced effect on the family of those who are ill. Both in Taiwan and in Vietnam, rotavirus illness is viewed as a priority disease. This study assessed, in Taiwan and Vietnam, the impact of rotavirus gastroenteritis on the family among a group of parents whose children had recently been hospitalized for this illness. METHODS: In the first half of 2013, parents of children who had been hospitalized due to rotavirus infection were recruited from hospitals in Taiwan (n = 12) and Vietnam (n = 22), and participated in focus group sessions or in-depth ethnographic interviews. RESULTS: In both countries, the results point to a substantial burden on the parents concerning emotions and logistics of daily tasks, and to considerable disruptions of the family routine. Taiwanese parents reported satisfaction with the health care system, a great deal of effort to suppress emotions, a fair amount of knowledge about rotavirus, and little extra costs related to the illness. On the other hand, parents in Vietnam expressed concern about the emotional well-being of and the health care treatments for their children, were less knowledgeable regarding rotavirus infection, and experienced a substantial financial burden due to indirect costs that were related to accessing treatment. CONCLUSIONS: Families in Taiwan and Vietnam suffer from a considerable economic and emotional burden related to rotavirus gastroenteritis. One way to substantially reduce this burden is to provide universal and affordable rotavirus vaccination to susceptible children, especially since cost-effectiveness studies have demonstrated that universal vaccination would be safe and efficacious against severe rotavirus gastroenteritis in these countries.


Asunto(s)
Costo de Enfermedad , Salud de la Familia , Gastroenteritis/psicología , Conocimientos, Actitudes y Práctica en Salud , Padres/psicología , Infecciones por Rotavirus/psicología , Estrés Psicológico , Adulto , Antropología Cultural , Preescolar , Emociones , Femenino , Grupos Focales , Gastroenteritis/economía , Humanos , Lactante , Masculino , Investigación Cualitativa , Rotavirus , Infecciones por Rotavirus/economía , Taiwán , Vietnam , Adulto Joven
9.
Nutr J ; 13: 105, 2014 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-25373935

RESUMEN

BACKGROUND: Formula-fed (FF) infants often have harder stools and higher stool concentrations of fatty acid soaps compared to breastfed infants. Feeding high sn-2 palmitate or the prebiotic oligofructose (OF) may soften stools, reduce stool soaps, and decrease fecal calcium loss. METHODS: We investigated the effect of high sn-2 palmitate alone and in combination with OF on stool palmitate soap, total soap and calcium concentrations, stool consistency, gastrointestinal (GI) tolerance, anthropometrics, and hydration in FF infants. This double-blind trial randomized 165 healthy term infants 25-45 days old to receive Control formula (n = 54), formula containing high sn-2 palmitate (sn-2; n = 56), or formula containing high sn-2 palmitate plus 3 g/L OF (sn-2+OF; n = 55). A non-randomized human milk (HM)-fed group was also included (n = 55). The primary endpoint, stool composition, was determined after 28 days of feeding, and was assessed using ANOVA accompanied by pairwise comparisons. Stool consistency, GI tolerance and hydration were assessed at baseline, day 14 (GI tolerance only) and day 28. RESULTS: Infants fed sn-2 had lower stool palmitate soaps compared to Control (P = 0.0028); while those fed sn-2+OF had reduced stool palmitate soaps compared to both Control and sn-2 (both P < 0.0001). Stool total soaps and calcium were lower in the sn-2+OF group than either Control (P < 0.0001) or sn-2 (P < 0.0001). The HM-fed group had lower stool palmitate soaps, total soaps and calcium (P < 0.0001 for each comparison) than all FF groups. The stool consistency score of the sn-2+OF group was lower than Control and sn-2 (P < 0.0001), but higher than the HM-fed group (P < 0.0001). GI tolerance was similar and anthropometric z-scores were <0.2 SD from the WHO growth standards in all groups, while urinary hydration markers were within normal range for all FF infants. CONCLUSIONS: Increasing sn-2 palmitate in infant formula reduces stool palmitate soaps. A combination of high sn-2 palmitate and OF reduces stool palmitate soaps, total soaps and calcium, while promoting softer stools. TRIAL REGISTRATION: This study was registered on http://www.clinicaltrials.gov: number NCT02031003.


Asunto(s)
Ácidos Grasos/análisis , Heces/química , Tracto Gastrointestinal/metabolismo , Fórmulas Infantiles/química , Oligosacáridos/administración & dosificación , Palmitatos/administración & dosificación , Lactancia Materna , Calcio de la Dieta/metabolismo , Método Doble Ciego , Femenino , Humanos , Recién Nacido , Masculino , Leche Humana/química , Prebióticos/análisis , Resultado del Tratamiento
10.
J Med Syst ; 38(6): 59, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24888984

RESUMEN

Hospital selection is a complicated decision-making process. Although patients have expressed greater desire to participate in decision-makings of their healthcare, it can be problematic for them to accumulate large amount of information and using it for making an optimal choice in hospital selection. The aim of this research is to develop a decision engine for hospital selection (DEHS) to support patients while accessing healthcare resources. DEHS applied the analytic hierarchy process and the geographic information system to aggregate different decision factors and spatial information. The results were evaluated through investigating the consistency of the preferences that users inputted, the degree that the results match patient choices, the satisfactions of users, and the helpfulness of the results. Data were collected for 3 months. One hundred and four users visited DEHS and 85.5 % of them used DEHS more than once. Recommendations of the institutes (36 %) was ranked as the primary decision factor that most users concerned. Sixty-seven percent of the sessions searched for hospitals and 33 % for clinics. Eighty-eight percent of the results matched the choices of patients. Eighty-three percent of the users agreed that the suggested results were satisfactory, and 70 % agreed that the information were helpful. The DEHS provides the patients with simple measurements and individualized list of suggested medical institutes, and allows them to make decisions based on credible information and consults the experiences of others at the same time. The suggested results were considered satisfactory and helpful.


Asunto(s)
Conducta de Elección , Técnicas de Apoyo para la Decisión , Hospitales , Participación del Paciente/métodos , Sistemas de Información Geográfica , Hospitales Especializados , Humanos , Satisfacción del Paciente
11.
Pediatr Neonatol ; 65(1): 55-63, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37500417

RESUMEN

BACKGROUND: Probiotic supplementation is increasingly being given to very low birth weight (VLBW) preterm infants. This preliminary observational study aimed to investigate the effects of multiple-strain probiotics on the gut microbiota of VLBW preterm infants. METHODS: We collected meconium and stool samples on days 14, 30, and 60 after birth from 49 VLBW infants with a gestational age of <32 weeks. The infants were divided into the probiotics (n = 24) and control (n = 25) groups. The microbial composition and diversity in the gut of the two groups were analyzed using 16 S rRNA gene sequencing. RESULTS: The relative abundance of Bifidobacterium and Lactobacillus was significantly higher in the probiotics group than in the control group on days 14, 30, and 60 (Bifidobacterium: p = 0.002, p < 0.0001, and p < 0.0001, respectively; Lactobacillus: p = 0.012, p < 0.0001, and p < 0.0001, respectively). The control group exhibited a significantly higher proportion of participants with a low abundance (<1%) of Bifidobacterium or Lactobacillus on days 14, 30, and 60 than those in the probiotic group. Moreover, the probiotics group exhibited a significantly lower abundance of Klebsiella on days 14 and 30 (2.4% vs. 11.6%, p = 0.037; and 7.9% vs. 16.6%, p = 0.032, respectively) and of Escherichia-Shigella on day 60 than the control group (6.1% vs. 12.3%, p = 0.013). Beta diversity analysis revealed that the microbiota profile was clearly divided into two groups on days 30 and 60 (p = 0.001). CONCLUSION: Probiotic supplementation significantly increased the relative abundance of Bifidobacterium and Lactobacillus and inhibited the growth of potential pathogens. Furthermore, probiotic supplementation led to a distinct gut microbiota profile. Further research is needed to identify probiotic strains that exert significant influence on the gut microbiome and their long-term health implications in preterm infants.


Asunto(s)
Microbioma Gastrointestinal , Probióticos , Lactante , Recién Nacido , Humanos , Recien Nacido Prematuro , Microbioma Gastrointestinal/genética , Probióticos/uso terapéutico , Recién Nacido de muy Bajo Peso , Bifidobacterium/genética , Heces/microbiología , Hospitalización
12.
Mol Genet Genomic Med ; 12(7): e2494, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39056574

RESUMEN

BACKGROUND: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole-exome sequencing revealed a de novo gain-of-function variant, p.Tyr715Cys, in the C-terminal domain of ClC-7 encoded by CLCN7. METHODS: Nicoli et al. (2019) assessed the functional impact of p.Tyr715Cys by heterologous expression in Xenopus oocytes and evaluating resulting currents. RESULTS: The variant led to increased outward currents, indicating it underlies the patient's phenotype of lysosomal hyperacidity, storage defects and vacuolization. This demonstrates the crucial physiological role of ClC-7 antiporter activity in maintaining appropriate lysosomal pH. CONCLUSION: Elucidating mechanisms by which CLCN7 variants lead to lysosomal dysfunction will advance understanding of genotype-phenotype correlations. Identifying modifier genes and compensatory pathways may reveal therapeutic targets. Ongoing functional characterization of variants along with longitudinal clinical evaluations will continue advancing knowledge of ClC-7's critical roles and disease mechanisms resulting from its dysfunction. Expanded cohort studies are warranted to delineate the full spectrum of associated phenotypes.


Asunto(s)
Canales de Cloruro , Humanos , Masculino , Canales de Cloruro/genética , Canales de Cloruro/metabolismo , Mutación con Ganancia de Función , Osteopetrosis/genética , Osteopetrosis/patología , Fenotipo , Preescolar
13.
J Med Internet Res ; 15(12): e266, 2013 Dec 09.
Artículo en Inglés | MEDLINE | ID: mdl-24323283

RESUMEN

BACKGROUND: Self-management is an important skill for patients with diabetes, and it involves frequent monitoring of glucose levels and behavior modification. Techniques to enhance the behavior changes of diabetic patients have been developed, such as diabetes self-management education and telehealthcare. Although the patients are engaged in self-management activities, barriers to behavior changes remain and additional work is necessary to address the impact of electronic media and telehealthcare on patient self-care behaviors. OBJECTIVE: The aims of this study were to (1) explore the behaviors of diabetic patients interacting with online applications, (2) determine the impact of a telehealthcare program among 7 self-care behaviors of the patients, and (3) determine the changes in glycosylated hemoglobin (HbA1c) levels. METHODS: A telehealthcare program was conducted to assist the patients with 7 self-care activities. The telehealthcare program lasted for 18 months and included the use of a third-generation mobile telecommunications glucometer, an online diabetes self-management system, and a teleconsultant service. We analyzed the data of 59 patients who participated in the telehealthcare program and 103 who did not. The behavioral assessments and the HbA1c data were collected and statistically analyzed to determine whether the telehealthcare services had an impact on the patients. We divided the 18-month period into 3 6-month intervals and analyzed the parameters of patients assisted by the telehealthcare service at different time points. We also compared the results of those who were assisted by the telehealthcare service with those who were not. RESULTS: There was a significant difference in monitoring blood glucose between the beginning and the end of the patient participation (P=.046) and between the overall period and the end of patient participation (P<.001). Five behaviors were significantly different between the intervention and control patients: being active (P<.001), healthy eating (P<.001), taking medication (P<.001), healthy coping (P=.02), and problem solving (P<.001). Monitoring of blood glucose was significantly different (P=.02) during the 6-12 month stage of patient participation between the intervention and control patients. A significant difference between the beginning and the 6-12 month stage of patient participation was observed for the mean value of HbA1c level (P=.02), and the differences between the overall HbA1c variability and the variability of each 6-month interval was also significant. CONCLUSIONS: Telehealthcare had a positive effect on diabetic patients. This study had enhanced blood glucose monitoring, and the patients in the program showed improvements in glycemic control. The self-care behaviors affect patient outcomes, and the changes of behavior require time to show the effects.


Asunto(s)
Diabetes Mellitus Tipo 1/psicología , Diabetes Mellitus Tipo 1/terapia , Diabetes Mellitus Tipo 2/psicología , Diabetes Mellitus Tipo 2/terapia , Autocuidado , Telemedicina/métodos , Adulto , Automonitorización de la Glucosa Sanguínea , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 2/sangre , Femenino , Hemoglobina Glucada/metabolismo , Conductas Relacionadas con la Salud , Hospitales Universitarios , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Educación del Paciente como Asunto , Participación del Paciente , Proyectos Piloto , Taiwán
14.
J Med Syst ; 37(2): 9931, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23423776

RESUMEN

Disease management is a program which attempts to overcome the fragmentation of healthcare system and improve the quality of care. Many studies have proven the effectiveness of disease management. However, the case managers were spending the majority of time in documentation, coordinating the members of the care team. They need a tool to support them with daily practice and optimizing the inefficient workflow. Several discussions have indicated that information technology plays an important role in the era of disease management. Whereas applications have been developed, it is inefficient to develop information system for each disease management program individually. The aim of this research is to support the work of disease management, reform the inefficient workflow, and propose an architecture model that enhance on the reusability and time saving of information system development. The proposed architecture model had been successfully implemented into two disease management information system, and the result was evaluated through reusability analysis, time consumed analysis, pre- and post-implement workflow analysis, and user questionnaire survey. The reusability of the proposed model was high, less than half of the time was consumed, and the workflow had been improved. The overall user aspect is positive. The supportiveness during daily workflow is high. The system empowers the case managers with better information and leads to better decision making.


Asunto(s)
Manejo de la Enfermedad , Sistemas de Información/organización & administración , Programas Informáticos , Integración de Sistemas , Adulto , Manejo de Caso , Sistemas de Computación , Femenino , Humanos , Masculino , Informática Médica , Persona de Mediana Edad , Garantía de la Calidad de Atención de Salud , Encuestas y Cuestionarios
15.
Int J Hyg Environ Health ; 248: 114092, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36493676

RESUMEN

Previous studies investigated prenatal exposure to neurotoxic metals in relation to birth anthropometrics. However, limited information has been developed on associations with birth outcomes of fetal exposure to metal mixtures using the meconium as a biomarker. The purpose of this study was to evaluate relationships of the combined effects of mercury (Hg), lead (Pb), cadmium (Cd), and arsenic (As) concentrations in the meconium on birth outcomes (i.e., birth weight, birth length, and head circumference). This cross-sectional study was conducted in northern Taiwan between January 2007 and December 2009. We collected 526 meconium samples within the first 24 h after birth to measure the in utero mixed-metal exposure determined using inductively coupled plasma/mass spectrometry (ICP-MS). We used a multivariable regression and Bayesian kernel machine regression (BKMR) to estimate associations of the combined effects and identify important mixture components with growth impairments. Our results revealed Hg, Pb, Cd, and As concentrations in the meconium and enhanced the quantity of research on meconium analyses. The overall effects of Hg, Pb, Cd, and As concentrations in the meconium as prenatal exposure biomarkers were negatively associated with birth growth. Fetal exposure to Hg and Pb was correlated with decreased birth weights. Hg and Pb concentrations in the meconium were linearly inversely related to the birth weight, birth length, and head circumference. Effects of fetal exposure to As and Cd on birth outcomes were not obvious. A significant increasing relationship was detected between Hg concentrations in the meconium and maternal fish consumption during pregnancy. Higher Pb concentrations in the meconium were observed among infants of mothers who consumed Chinese herbal medicines. Reducing maternal fish consumption and Chinese herbal medicine consumption during pregnancy could limit infant exposure to metals.


Asunto(s)
Arsénico , Mercurio , Efectos Tardíos de la Exposición Prenatal , Embarazo , Humanos , Femenino , Animales , Recién Nacido , Cadmio/análisis , Efectos Tardíos de la Exposición Prenatal/epidemiología , Peso al Nacer , Meconio/química , Taiwán/epidemiología , Estudios Transversales , Teorema de Bayes , Plomo/análisis , Arsénico/análisis , Mercurio/análisis , Exposición Materna
16.
Pediatr Neonatol ; 2023 Oct 21.
Artículo en Inglés | MEDLINE | ID: mdl-37993294

RESUMEN

BACKGROUND: To assess the quality change of our single-center pediatric colonoscopy after applying bundle for bowel preparation and general anesthesia and centralize the procedure using terminal ileum (TI) intubation rate as the main indicator. METHODS: All elective colonoscopies performed for patients younger than 18 years old in MacKay Memorial Hospital from July 2015 through June 2020 (assigned to group 1, before bundle) and from August 2020 through July 2021 (assigned to group 2, after bundle) were retrospectively reviewed for demographic characteristics, indications, bowel preparation agent and cleansing level, diagnostic and therapeutic procedures, maximum intestinal level reached, and cecal intubation and total procedure time. Statistical analysis was done using P value < 0.05 considered to be significant. RESULTS: Analysis included 45 and 32 colonoscopies in group 1 and 2, respectively. Bloody stool was the most frequent indication in both groups. Both TI intubation rate (42.2 % vs. 75.0 %, P = 0.004) and biopsy rate (45.0 % vs. 75.9 %, P = 0.01) increased significantly from group 1 to group 2. The narrower standard deviation of bowel preparation score (1.93 vs. 1.15) and total procedure time (37.71 vs. 22.29) in group 2 indicated a more stable quality, although the mean showed no difference. There was no statistical difference in age, gender, body weight, cecal intubation rate, or cecal intubation time. CONCLUSION: A higher TI intubation rate and biopsy rate indicated an improved quality of pediatric colonoscopy after applying bundle including bowel preparation and general anesthesia, with additional centralization.

17.
Front Cell Dev Biol ; 11: 1330049, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38357529

RESUMEN

Background: The programming of innate and adaptive immunity plays a pivotal role in determining the course of pregnancy, leading to either normal term birth (TB) or preterm birth (PB) through the modulation of macrophage (M1/M2) differentiation. Extracellular vesicles (EVs) in maternal blood, harboring a repertoire of physiological and pathological messengers, are integral players in pregnancy outcomes. It is unknown whether urinary EVs (UEVs) could serve as a non-invasive mechanistic biomarker for predicting PB. Methods: This study investigated first-trimester UEVs carrying M1 messengers with altered immune programming, aiming to discern their correlation to subsequent PB. A birth cohort comprising 501 pregnant women, with 40 women experiencing PB matched to 40 women experiencing TB on the same day, was examined. First-trimester UEVs were isolated for the quantification of immune mediators. Additionally, we evaluated the UEV modulation of "trained immunity" on macrophage and lymphocyte differentiations, including mRNA expression profiles, and chromatin activation modification at histone 3 lysine 4 trimethylation (H3K4me3). Results: We found a significant elevation (p < 0.05) in the particles of UEVs bearing characteristic exosome markers (CD9/CD63/CD81/syntenin) during the first trimester of pregnancy compared to non-pregnant samples. Furthermore, UEVs from PB demonstrated significantly heightened levels of MCP-1 (p = 0.003), IL-6 (p = 0.041), IL-17A (p = 0.007), IP-10 (p = 0.036), TNFα (p = 0.004), IL-12 (p = 0.045), and IFNγ (p = 0.030) relative to those from TB, indicative of altered M1 and Th17 differentiation. Notably, MCP-1 (>174 pg/mL) exhibited a sensitivity of 71.9% and specificity of 64.6%, and MCP-1 (>174 pg/mL) and IFNγ (>8.7 pg/mL) provided a higher sensitivity (84.6%) of predicting PB and moderate specificity of 66.7%. Subsequent investigations showed that UEVs from TB exerted a significant suppression of M1 differentiation (iNOS expression) and Th17 differentiation (RORrT expression) compared to those of PB. Conversely, UEVs derived from PB induced a significantly higher expression of chromatin modification at H3K4me3 with higher production of IL-8 and TNFα cytokines (p < 0.001). Implications: This pioneering study provides critical evidence for the early detection of altered M1 and Th17 responses within UEVs as a predictor of PB and early modulation of altered M1 and Th17 polarization associated with better T-cell regulatory differentiation as a potential prevention of subsequent PB.

18.
Children (Basel) ; 10(2)2023 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-36832330

RESUMEN

Heterotopic pancreas (HP) is defined as pancreatic tissue lacking vascular or anatomic connection with the normal pancreas. Surgical resection is often indicated for symptomatic gastric HP. However, intraoperative identification of gastric HP is often difficult during laparoscopic surgery. Herein, we describe a patient with gastric HP, which was marked with SPOT® dye (GI Supply, Camp Hill, PA, USA). The dye was seen clearly laparoscopically facilitating total excision of the lesion. The final pathology report confirmed the presence of heterotopic pancreatic tissue including pancreatic acini, small pancreatic ducts tissue with islets of Langerhans in the deep gastric submucosal area. There were no postoperative complications, and the patient was symptom-free. To the best of our knowledge, this was the first case report in the literature in which endoscopic tattooing of gastric HP before laparoscopic resection was performed. This method of localization was simple and reliable in children.

19.
Hum Mol Genet ; 19(6): 1147-51, 2010 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-20045869

RESUMEN

Kawasaki disease (KD) is a systemic vasculitis caused by unknown infectious agents, host immune dysregulation and genetic susceptibility in children. Coronary artery lesions (CALs) complicate 15-25% of cases of untreated KD. The aim of this study was to investigate if the single-nucleotide polymorphism (SNP) rs28493229 of the ITPKC gene is associated with susceptibility to KD or with CALs in Taiwanese children. A total of 385 unrelated Taiwanese children (222 boys and 163 girls) with KD were included, 140 of whom had CALs. Mean age at diagnosis was 1.9 +/- 1.7 (0.1-10.2) years. Rs28493229 was genotyped in children with KD and 1158 ethnically matched healthy controls using the TaqMan Allelic Discrimination Assay. In 184 families with KD, both biological parents were available, constituting 184 trios with their children. They were assessed in a family-based study by means of a transmission/disequilibrium test (TDT). No significant differences in genotype (P = 0.29 and P = 0.29, respectively), allele (P = 0.14 and P = 0.22, respectively) and carrier (P = 0.22 and P = 0.25, respectively) frequencies of the SNP were found between healthy controls and children with KD or those with CALs. TDT in the 184 family trios and in 69 trios where the child had CALs did not reveal significant overtransmittion of the C allele. In conclusion, we did not find a statistically significant association between the ITPKC gene SNP rs28493229 and KD or CALs in Taiwanese children.


Asunto(s)
Síndrome Mucocutáneo Linfonodular/enzimología , Síndrome Mucocutáneo Linfonodular/genética , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Polimorfismo de Nucleótido Simple/genética , Estudios de Casos y Controles , Niño , Preescolar , Vasos Coronarios/patología , Familia , Femenino , Humanos , Lactante , Desequilibrio de Ligamiento/genética , Masculino , Taiwán
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