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1.
The Korean Journal of Gastroenterology ; : 6-16, 2022.
Artículo en Inglés | WPRIM | ID: wpr-939067

RESUMEN

Background/Aims@#Dietary factors can aggravate the symptoms of irritable bowel syndrome (IBS). Many IBS patients try restrictive diets to relieve their symptoms, but the types of diets with an exacerbating factor are unknown. Therefore, this paper reports the results of a systematic review and network meta-analysis of randomized-controlled trials (RCTs) reviewing the efficacy of food restriction diets in IBS. @*Methods@#The MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, and Clinicaltrials.gov databases were searched until July 21, 2021, to retrieve RCTs assessing the efficacy of restriction diets in adults with IBS. Two independent reviewers performed the eligibility assessment and data abstraction. RCTs that evaluated a restriction diet versus a control diet and assessed the improvement in global IBS symptoms were included. These trials reported a dichotomous assessment of the overall response to therapy. @*Results@#A total of 1,949 citations were identified. After full-text screening, 14 RCTs were considered eligible for the systematic review and network meta-analysis. A starch- and sucrose-reduced diet and a diet with low-fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) showed significantly better results than a usual diet. Symptom flare-ups in patients on a gluten-free diet were also significantly lower than in those on high-gluten diets. @*Conclusions@#These findings showed that the starch- and sucrose-reduced, low FODMAP, and gluten-free diets had superior effects in reducing IBS symptoms. Further studies, including head-to-head trials will be needed to establish the effectiveness of dietary restrictions on IBS symptoms.

2.
Neonatal Medicine ; : 68-75, 2022.
Artículo en Inglés | WPRIM | ID: wpr-938834

RESUMEN

Probiotics are live microorganisms that positively affect host health by altering the composition of the host microbiota. Gastrointestinal dysbiosis refers to adverse alterations of the intestinal flora and is associated with several diseases, including necrotizing enterocolitis, late-onset sepsis in preterm infants as well as atopic disease, colic, diabetes, and diarrhea in term infants. The risk factors for gastrointestinal dysbiosis are preterm birth, cesarean section delivery, and formula feeding, in contrast to term birth infants, vaginal delivery and breast milk feeding. Probiotics have been used to restore synbiosis in infants with gastrointestinal dysbiosis. Probiotics inhibit colonization of pathogenic bacteria in the gastrointestinal tract, thereby improving the barrier function of the gastrointestinal tract, and the immune function. In preterm infants, probiotics reduce mortality as well as rates of necrotizing enterocolitis and late-onset sepsis. The combined use of probiotics such as Lactobacillus and Bifidobacterium and the combination of probiotics with prebiotics yield better outcomes in the prevention of necrotizing enterocolitis than those achieved with a single pro- or prebiotic strain. However, the routine use of probiotics has been hindered by the lack of pharmaceutical-quality products, and a definite effect has yet to be demonstrated in preterm infants with a birth weight <1,000 g. Therefore, to reduce the risk of necrotizing enterocolitis in preterm infants, probiotics should be provided along with breast milk and other strategies aimed at preventing gastrointestinal dysbiosis.

3.
Journal of Korean Academy of Oral Health ; : 70-77, 2022.
Artículo en Inglés | WPRIM | ID: wpr-937971

RESUMEN

Objectives@#This study aimed to assess the antibacterial, bactericidal, and mouth freshener effects of lysozyme hydrochloride 0.01%, sodium fluoride 0.02%, and cetylpyridinium chloride 0.05%. @*Methods@#Eight oral disease-related bacteria were cultivated anaerobically. Four samples were prepared with or without 0.5% cetylpyridinium chloride, 0.2% sodium fluoride, and 0.1% lysozyme hydrochloride. Antimicrobial activity was tested in 96-well microplates. After assessing the bacterial count, the bacterial suspension was mixed with samples and spread on agar. The bactericidal rate was calculated by counting and comparing treated and untreated colonies. @*Results@#Lysozyme hydrochloride 0.01%, sodium fluoride 0.02%, and cetylpyridinium chloride 0.05% mouth fresheners sterilized 99.99% of 8 oral bacteria, including Streprococcus mutans. Lysozyme hydrochloride 0.01%, sodium fluoride 0.02%, and cetylpyridinium chloride 0.05% mouth fresheners showed 99.97% bactericidal activity against Lactobacillus acidophilus. @*Conclusions@#Lysozyme hydrochloride 0.01%, sodium fluoride 0.02%, and cetylpyridinium chloride 0.05% mouth fresheners confirmed the sterilization and antibacterial effects on oral disease-causing bacteria.

4.
Journal of Korean Medical Science ; : e127-2022.
Artículo en Inglés | WPRIM | ID: wpr-925891

RESUMEN

Background@#This meta-analysis was performed to examine the association between maternal hypertension during pregnancy (HDP) and neonatal bronchopulmonary dysplasia (BPD). @*Methods@#We systematically searched PubMed, EMBASE, the Cochrane Library, and the KoreaMed database for relevant studies. We used the Newcastle-Ottawa Scale for quality assessment of all included studies. The meta-analysis was performed using Comprehensive Meta-Analysis software (version 3.3). @*Results@#We included 35 studies that fulfilled the inclusion criteria; the total number of infants evaluated came to 97,399 through review process. Maternal HDP was not significantly associated with any definition of BPD, i.e., oxygen dependency at 36 weeks of gestation (odds ratio [OR], 1.162; 95% confidence interval [CI], 0.991–1.362; P = 0.064) in pooled analysis of 29 studies or oxygen dependency at 28 days of age (OR, 1.084; 95% CI, 0.660–1.780; P = 0.751) in pooled analysis of 8 studies. Maternal HDP was significantly associated only with severe BPD (OR, 2.341; 95% CI, 1.726–3.174; P < 0.001). BPD was not associated with HDP in the overall analysis (OR, 1.131; 95% CI, 0.977–1.309; P = 0.100) or subgroup analysis according to the definition of HDP. @*Conclusion@#Maternal HDP was not associated with neonatal BPD defined by the duration of oxygen dependency (at either 36 weeks of gestation or 28 days of life) but was associated with severe BPD.

5.
Korean Journal of Clinical Pharmacy ; : 136-144, 2021.
Artículo en Inglés | WPRIM | ID: wpr-901839

RESUMEN

Background@#Zinc is known for modulating antiviral and antibacterial immunity and regulating inflammatory response. This study aimed to examine the effect of zinc supplementation on clinical outcomes of hospitalized COVID-19 patients through systematic literature review and meta-analysis. @*Methods@#PubMed/Medline, Embase, and Cochrane library databases were searched for studies comparing zinc supplement group versus control group for clinical outcomes of COVID-19 up to November 3, 2020. The search results were updated on February 9, 2021. The meta-analysis was performed by RevMan 5.4 software. @*Results@#Total 4 studies were included in this systematic review. The zinc administered group had a significantly lower mortality rate compared with the control group (odds ratio [OR] 0.63, 95% confidence interval [95% CI] 0.53-0.75, p<0.001), with significantly higher discharge rate (OR 1.32, 95% Cl 1.15-1.52, p<0.001). However, there were no significant differences in the intensive care unit admission rate (OR 1.07, 95% Cl 0.26-4.48, p=0.92), mechanical ventilation rate (OR 0.80, 95% Cl 0.45-1.41, p=0.44), and length of hospital stay (mean difference 0.75, 95% Cl −0.64 to 2.13, p=0.29) between the two groups. @*Conclusion@#The meta-analysis of zinc administration showed positive clinical effects on the discharge rate and mortality of COVID-19 hospitalized patients. However, large-scale randomized controlled trial should be conducted for zinc to be considered as one of the adjuvant treatments.

6.
Journal of Korean Medical Science ; : e84-2021.
Artículo en Inglés | WPRIM | ID: wpr-899973

RESUMEN

Background@#We performed a systematic review and meta-analysis to evaluate the incidence of breast milk-acquired cytomegalovirus (CMV) infection in preterm infants born to CMVseropositive mothers. @*Methods@#PubMed, Embase, and Cochrane Library databases were searched using the terms: (“breast feeding” or “breast milk” or “human milk” or “breast”) and (“HCMV” or “cytomegalovirus”) and (“infant, extremely premature” or “premature birth” or “newborn” or “neonate” or “low birth weight” or “very low birth weight” or “premature” or “preterm infant”). Studies that had information on CMV status and breast feeding were included in the meta-analysis. @*Results@#A total of 2,502 newborns from 19 studies were included in this meta-analysis. The rate of postnatally acquired CMV infection among breastfed infants with CMV-seropositive mothers was 16.5% (95% confidence interval [CI], 0.10–0.26; P < 0.001). The infection rate was 26% with fresh breast milk, 8% with a combined diet of fresh and freeze–thawed breast milk, and 11% with freeze–thawed breast milk. Among cases where the CMV status of breast milk was determined, CMV shedding into breast milk occurred in 80.5% (95% CI, 0.71–0.87; P < 0.001) of CMV seropositive mothers. The breast milk-acquired CMV infection rate among infants fed CMV-positive breast milk was 20.7% (95% CI, 0.14–0.30; P < 0.001). @*Conclusion@#This meta-analysis examined the rate of breast milk-acquired CMV infections in preterm infants with CMV-seropositive mothers; the CMV infection rate was higher in preterm infants fed fresh breast milk. Until further data are available, we cautiously suggest the use of freeze–thawed breast milk, rather than fresh breast milk, for preterm infants or very low birth weight infants.

7.
Korean Journal of Clinical Pharmacy ; : 136-144, 2021.
Artículo en Inglés | WPRIM | ID: wpr-894135

RESUMEN

Background@#Zinc is known for modulating antiviral and antibacterial immunity and regulating inflammatory response. This study aimed to examine the effect of zinc supplementation on clinical outcomes of hospitalized COVID-19 patients through systematic literature review and meta-analysis. @*Methods@#PubMed/Medline, Embase, and Cochrane library databases were searched for studies comparing zinc supplement group versus control group for clinical outcomes of COVID-19 up to November 3, 2020. The search results were updated on February 9, 2021. The meta-analysis was performed by RevMan 5.4 software. @*Results@#Total 4 studies were included in this systematic review. The zinc administered group had a significantly lower mortality rate compared with the control group (odds ratio [OR] 0.63, 95% confidence interval [95% CI] 0.53-0.75, p<0.001), with significantly higher discharge rate (OR 1.32, 95% Cl 1.15-1.52, p<0.001). However, there were no significant differences in the intensive care unit admission rate (OR 1.07, 95% Cl 0.26-4.48, p=0.92), mechanical ventilation rate (OR 0.80, 95% Cl 0.45-1.41, p=0.44), and length of hospital stay (mean difference 0.75, 95% Cl −0.64 to 2.13, p=0.29) between the two groups. @*Conclusion@#The meta-analysis of zinc administration showed positive clinical effects on the discharge rate and mortality of COVID-19 hospitalized patients. However, large-scale randomized controlled trial should be conducted for zinc to be considered as one of the adjuvant treatments.

8.
Journal of Korean Medical Science ; : e84-2021.
Artículo en Inglés | WPRIM | ID: wpr-892269

RESUMEN

Background@#We performed a systematic review and meta-analysis to evaluate the incidence of breast milk-acquired cytomegalovirus (CMV) infection in preterm infants born to CMVseropositive mothers. @*Methods@#PubMed, Embase, and Cochrane Library databases were searched using the terms: (“breast feeding” or “breast milk” or “human milk” or “breast”) and (“HCMV” or “cytomegalovirus”) and (“infant, extremely premature” or “premature birth” or “newborn” or “neonate” or “low birth weight” or “very low birth weight” or “premature” or “preterm infant”). Studies that had information on CMV status and breast feeding were included in the meta-analysis. @*Results@#A total of 2,502 newborns from 19 studies were included in this meta-analysis. The rate of postnatally acquired CMV infection among breastfed infants with CMV-seropositive mothers was 16.5% (95% confidence interval [CI], 0.10–0.26; P < 0.001). The infection rate was 26% with fresh breast milk, 8% with a combined diet of fresh and freeze–thawed breast milk, and 11% with freeze–thawed breast milk. Among cases where the CMV status of breast milk was determined, CMV shedding into breast milk occurred in 80.5% (95% CI, 0.71–0.87; P < 0.001) of CMV seropositive mothers. The breast milk-acquired CMV infection rate among infants fed CMV-positive breast milk was 20.7% (95% CI, 0.14–0.30; P < 0.001). @*Conclusion@#This meta-analysis examined the rate of breast milk-acquired CMV infections in preterm infants with CMV-seropositive mothers; the CMV infection rate was higher in preterm infants fed fresh breast milk. Until further data are available, we cautiously suggest the use of freeze–thawed breast milk, rather than fresh breast milk, for preterm infants or very low birth weight infants.

9.
Journal of the Korean Ophthalmological Society ; : 834-838, 2020.
Artículo | WPRIM | ID: wpr-833239

RESUMEN

Purpose@#We report a case of orbital apex syndrome caused by co-infection of Actinomyces and Aspergillus invasive fungal sinusitis.Case summary: An 87-year-old female visited our clinic for decreased visual acuity which began 2 weeks prior to her visit. She had a history of angina and uncontrolled diabetes. Her best-corrected visual acuity (BCVA) of the left eye was 0.2, the intraocular pressure was in the normal range, and mild ptosis with impaired abduction was noted. Gadolinium-enhanced brain magnetic resonance imaging showed left maxillary sinusitis and an enhanced lesion invading the pterygopalatine fossa. Functional endoscopic sinus surgery was performed by an otorhinolaryngologist. Pathology revealed co-infection with Aspergillus and Actinomyces. Her left BCVA was negative light perception despite surgery and impaired abduction progressed to total ophthalmoplegia. @*Conclusions@#We report a case of orbital apex syndrome caused by invasive fungal sinusitis with a rare co-infection of Actinomyces and Aspergillus.

10.
Pediatric Emergency Medicine Journal ; : 92-96, 2019.
Artículo en Inglés | WPRIM | ID: wpr-786516

RESUMEN

Acute myocarditis is clinically rare in children, but poses a significant risk for morbidity and mortality. Children with myocarditis show a wide variety of clinical manifestations ranging from subclinical myocarditis to heart failure, hemodynamic compromise, arrhythmia, and even sudden death. Salmonella species are associated with clinical presentations including gastroenteritis, enteric fever, bacteremia, and extra-intestinal focal infections. Non-typhoidal Salmonella infections usually cause self-limiting gastroenteritis, but are rarely associated with myocarditis. In this report, we present a case of myocarditis associated with Salmonella serogroup B gastroenteritis in a previously healthy 15-year-old boy.


Asunto(s)
Adolescente , Niño , Humanos , Masculino , Arritmias Cardíacas , Bacteriemia , Muerte Súbita , Infección Focal , Gastroenteritis , Insuficiencia Cardíaca , Hemodinámica , Imagen por Resonancia Magnética , Mortalidad , Miocarditis , Infecciones por Salmonella , Salmonella , Serogrupo , Fiebre Tifoidea
11.
Journal of the Korean Ophthalmological Society ; : 828-835, 2017.
Artículo en Coreano | WPRIM | ID: wpr-65567

RESUMEN

PURPOSE: To determine the effect of intraocular pressure (IOP) reduction of selective laser trabeculoplasty (SLT) on medically uncontrolled open-angle glaucoma (OAG) and the factors associated with the treatment result. METHODS: Forty-seven eyes of 47 OAG patients were enrolled for 180° SLT or 360° SLT, all under maximal tolerated medical therapy and with IOP above their target pressure. All patients were followed-up for at least 1 year after the procedure. Treatment success was defined as IOP reduction ≥20% from baseline at 12 months after SLT treatment without additional anti-glaucomatous intervention. RESULTS: The treatment success rate was 65.96%. Baseline IOP was 23.84 ± 4.52 mmHg in the success group and 21.44 ± 2.97 mmHg in the failure group (p = 0.035). Significant mean IOP reduction was observed at 6, 9, and 12 month follow-ups (p = 0.001 at 6 months; 0.041 at 9 months, and <0.001 at 12 months). The success rate did not vary significantly by sex (p = 0.362), age (p = 0.081), history of cataract surgery (p = 0.470), number of medications (p = 0.857), duration of medication (p = 0.613), or angular degree of SLT treatment (180° vs. 360°) (p = 0.137). There was a positive correlation between mean baseline IOP and mean reduction of IOP from baseline in the success group (p < 0.001, r = 0.861), while there was no such correlation in the failure group (p = 0.272, r = −2.921). CONCLUSIONS: SLT was an effective treatment for IOP reduction until 12 months in medically uncontrolled OAG patients. A greater amount of IOP reduction is expected in patients with higher baseline IOP in the success group.


Asunto(s)
Humanos , Catarata , Estudios de Seguimiento , Glaucoma de Ángulo Abierto , Presión Intraocular , Trabeculectomía
12.
Journal of Korean Medical Science ; : 1468-1473, 2017.
Artículo en Inglés | WPRIM | ID: wpr-200235

RESUMEN

Several clinical studies have proposed a protective role for vitamin E (α-tocopherol) against contrast-induced acute kidney injury (CIAKI). The aim of study was to assess the effects of vitamin E for the prevention of CIAKI. A systematic review and meta-analysis was conducted using MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials. Randomized controlled trials (RCTs) reporting the effects of vitamin E on CIAKI development and measurements of renal function were included. Four trials including 623 participants were analyzed in the meta-analysis. All participants received intravenous hydration in addition to vitamin E or placebo. The incidence of the vitamin E group (5.8%) was lower than that of the control group (15.4%). Compared with the control, vitamin E significantly reduced the risk ratio (RR) of CIAKI by 62% (0.38; 95% confidence interval [CI], 0.22, 0.63; P < 0.010). In addition, vitamin E reduced serum creatinine (SCr) increase after contrast administration (standardized mean difference [SMD], −0.27; 95% CI, −0.49, −0.06; P = 0.010). However, changes in glomerular filtration rate (GFR) after contrast administration were not significantly different between vitamin E and the control group (SMD, 0.21; 95% CI, −0.01, 0.43; P = 0.060). Heterogeneity within the available trials was not observed. Our meta-analysis provides evidence that vitamin E plus hydration significantly reduced the risk of CIAKI in patients with renal impairment compared with hydration alone.


Asunto(s)
Humanos , Lesión Renal Aguda , Medios de Contraste , Creatinina , Tasa de Filtración Glomerular , Incidencia , Oportunidad Relativa , Características de la Población , Vitamina E , Vitaminas
13.
Gut and Liver ; : 807-812, 2017.
Artículo en Inglés | WPRIM | ID: wpr-82307

RESUMEN

BACKGROUND/AIMS: Because of the poor prognosis of diffuse-type gastric cancer, early detection is important. We investigated the clinical characteristics and prognosis of diffuse-type early gastric cancer (EGC) diagnosed in subjects during health check-ups. METHODS: Among 121,111 subjects who underwent gastroscopy during a routine health check-up, we identified 282 patients with 286 EGC lesions and reviewed their clinical and tumor-specific parameters. RESULTS: Patients with diffuse-type EGC were younger, and 48.1% of them were female. Serum anti-Helicobacter pylori IgG (Hp-IgG) was positive in 90.7% of diffuse-type EGC patients (vs 75.9% of intestinal-type EGC, p=0.002), and the proportion of diffuse-type EGC cases increased significantly with increasing Hp-IgG serum titers (p < 0.001). Diffuse-type EGC had pale discolorations on the tumor surface (26.4% vs 4.0% in intestinal-type EGC, p < 0.001) and were often located in the middle third of the stomach. Submucosal invasion or regional nodal metastasis was observed more commonly in patients with diffuse-type EGC. However, during the median follow-up period of 50 months, 5-year disease-free survival rates did not differ between the groups. CONCLUSIONS: Diffuse-type EGC shows different clinical and endoscopic characteristics. Diffuse-type EGC is more closely associated with Hp-IgG seropositivity and a higher serum titer. Early detection results in excellent prognosis.


Asunto(s)
Femenino , Humanos , Supervivencia sin Enfermedad , Diagnóstico Precoz , Endoscopía , Estudios de Seguimiento , Gastroscopía , Inmunoglobulina G , Metástasis de la Neoplasia , Pronóstico , Estómago , Neoplasias Gástricas
14.
Blood Research ; : 164-170, 2016.
Artículo en Inglés | WPRIM | ID: wpr-209258

RESUMEN

BACKGROUND: While venous thromboembolism (VTE) is uncommon, its incidence is increasing in children. We aimed to evaluate the incidence, risk factors, treatment, and outcome of pediatric VTE cases at a single tertiary hospital in Korea. METHODS: We retrospectively analyzed the records of consecutive pediatric VTE patients admitted to the Seoul National University Bundang Hospital between April 2003 and March 2016. RESULTS: Among 70,462 hospitalizations, 25 pediatric VTE cases were identified (3.27 cases per 10,000 admissions). Fifteen patients (60%) were male, 8 were neonates (32%), and the median age at diagnosis was 10.9 years (range, 0 days‒17 yr). Doppler ultrasonography was the most frequently used imaging modality. Thrombosis occurred in the intracerebral (20%), upper venous (64%), lower venous (12%), and combined upper and lower venous systems (4%). Twenty patients (80%) had underlying clinical conditions including venous catheterization (24%), malignancy (20%), and systemic diseases (12%). Protein C, protein S, and antithrombin deficiencies occurred in 2 of 13, 4 of 13, and 1 of 14 patients tested, respectively. Six patients were treated with heparin followed by warfarin, while 4 were treated with heparin or warfarin. Thrombectomy and inferior vena cava filter and/or thrombolysis were performed in 5 patients. Two patients died of pulmonary embolism, and 2 developed a post-thrombotic syndrome. CONCLUSION: Compared with the reports from Western countries, VTE occurrence was lower in the Korean pediatric population under study, although similar clinical characteristics including bimodal age distribution, underlying diseases, treatment pattern, and outcomes were observed.


Asunto(s)
Niño , Humanos , Recién Nacido , Masculino , Distribución por Edad , Cateterismo , Catéteres , Diagnóstico , Epidemiología , Heparina , Hospitalización , Incidencia , Corea (Geográfico) , Proteína C , Proteína S , Embolia Pulmonar , Estudios Retrospectivos , Factores de Riesgo , Seúl , Centros de Atención Terciaria , Trombectomía , Trombosis , Ultrasonografía Doppler , Filtros de Vena Cava , Tromboembolia Venosa , Warfarina
15.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 38-43, 2016.
Artículo en Inglés | WPRIM | ID: wpr-61672

RESUMEN

PURPOSE: Each ethnic group has a unique life style, including diets. Life style affects bowel movement. The aim of this study is to describe the results of colon transit time (CTT) tests in Korean children who had chronic functional constipation based on highly refined data. METHODS: One hundred ninety (86 males) out of 415 children who performed a CTT test under the diagnosis of chronic constipation according to Rome III criteria at Konkuk University Medical Center from January 2006 through March 2015 were enrolled in this study. Two hundreds twenty-five children were excluded on the basis of CTT test result, defecation diary, and clinical setting. Shapiro-Wilk and Mann-Whitney U, and chi-square tests were used for statistical analysis. RESULTS: The median value and interquartile range (IQR) of CTT was 54 (37.5) hours in Encopresis group, and those in non-encopresis group was 40.2 (27.9) hours (p<0.001). The frequency of subtype between non-encopresis group and encopresis was statistically significant (p=0.002). The non-encopresis group (n=154, 81.1%) was divided into normal transit subgroup (n=84, 54.5%; median value and IQR of CTT=26.4 [9.6] hours), outlet obstruction subgroup (n=18, 11.7%; 62.4 [15.6] hours), and slow transit subgroup (n=52, 33.8%; 54.6 [21.0] hours]. The encopresis group (n=36, 18.9%) was divided into normal transit subgroup (n=8, 22.2%; median value and IQR of CTT=32.4 [9.9] hours), outlet obstruction subgroup (n=8, 22.2%; 67.8 [34.8] hours), and slow transit subgroup (n=20, 55.6%; 59.4 [62.7]hours). CONCLUSION: This study provided the basic pattern and value of the CTT test in Korean children with chronic constipation.


Asunto(s)
Niño , Humanos , Centros Médicos Académicos , Colon , Estreñimiento , Defecación , Diagnóstico , Dieta , Encopresis , Etnicidad , Corea (Geográfico) , Estilo de Vida
16.
Experimental & Molecular Medicine ; : e251-2016.
Artículo en Inglés | WPRIM | ID: wpr-78631

RESUMEN

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.


Asunto(s)
Adolescente , Humanos , Diagnóstico , Exoma , Heterogeneidad Genética , Fallo Renal Crónico , Corea (Geográfico) , Hígado , Tamizaje Masivo , Testamentos
17.
Journal of Neurogastroenterology and Motility ; : 483-489, 2016.
Artículo en Inglés | WPRIM | ID: wpr-78146

RESUMEN

BACKGROUND/AIMS: A colon transit time test using radio-opaque markers (CTTRM) is considered the gold standard for evaluating colon transit function. A 24-hour delayed film of barium enema (BE) has been used as a supplementary method in structural evaluations. The aim of this study was to evaluate the utility of a 24-hour delayed BE film for assessing colon transit function in young children with constipation. METHODS: In total, 93 children with constipation who performed both single-contrast BE and CTTRM were enrolled in this study. Of these, the data from 70 children were analyzed (males 33, females 37; mean age [range], 5.63 ± 2.94 [2-14] years). The basic principle of the study is "velocity = distance/time". Time values were identified in both studies, and the colon length and distance of barium movement were measured on the 24-hour delayed BE film. Thus, colon transit velocity values could be calculated using both methods. The correlation between colon transit velocity using a 24-hour delayed BE film versus CTTRM was analyzed statistically. RESULTS: Median value (interquartile range) of colon transit velocity using CTTRM was 1.57 (1.07-2.89) cm/hr, and that using BE of that was 1.58 (0.94-2.07) cm/hr. The Spearman correlation coefficient was 0.438 (P < 0.001) for the overall group. The correlation was strongest in children younger than 4 years (r = 0.537, P = 0.032). CONCLUSIONS: Although the correlation between BE and CTTRM was not very strong, the 24-hour delayed BE film could provide broad information about colon transit function in young children, especially those under 4 years who usually cannot undergo CTTRM.


Asunto(s)
Niño , Femenino , Humanos , Bario , Colon , Estreñimiento , Enema , Métodos
18.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 186-192, 2016.
Artículo en Inglés | WPRIM | ID: wpr-201256

RESUMEN

PURPOSE: To evaluate the correlation between colon transit time (CTT) test value and initial maintenance dose of polyethylene glycol (PEG) 4000 or lactulose. METHODS: Of 415 children with chronic functional constipation, 190 were enrolled based on exclusion criteria using the CTT test, defecation diary, and clinical chart. The CTT test was performed with prior disimpaction. The laxative dose for maintenance was determined on the basis of the defecation diary and clinical chart. The Shapiro-Wilk test and Pearson's and Spearman's correlations were used for statistical analysis. RESULTS: The overall group median value and interquartile range of the CTT test was 43.8 (31.8) hours. The average PEG 4000 dose for maintenance in the overall group was 0.68±0.18 g/kg/d; according to age, the dose was 0.73±0.16 g/kg/d (<8 years), 0.53±0.12 g/kg/d (8 to <12 years), and 0.36±0.05 g/kg/d (12 to 15 years). The dose of lactulose was 1.99±0.43 mL/kg/d (<8 years) or 1.26±0.25 mL/kg/d (8 to <12 years). There was no significant correlation between CTT test value and initial dose of laxative, irrespective of the subgroup (encopresis, abnormal CTT test subtype) for either laxative. Even in the largest group (overall, n=109, younger than 8 years and on PEG 4000), the correlation was weak (Pearson's correlation coefficient [R]=0.268, p=0.005). Within the abnormal transit group, subgroup (n=73, younger than 8 years and on PEG 4000) correlation was weak (R=0.267, p=0.022). CONCLUSION: CTT test value cannot predict the initial maintenance dose of PEG 4000 or lactulose with linear correlation.


Asunto(s)
Niño , Humanos , Colon , Estreñimiento , Defecación , Lactulosa , Laxativos , Polietilenglicoles
19.
Gut and Liver ; : 902-909, 2016.
Artículo en Inglés | WPRIM | ID: wpr-132238

RESUMEN

BACKGROUND/AIMS: Helicobacter pylori is a major risk factor for atrophic gastritis (AG) and gastric cancer. The correlation between H. pylori, AG and colorectal neoplasm (CRN) has only been examined in a limited number of studies, and findings have been inconclusive. We aimed to investigate the association between H. pylori infection status, AG and advanced CRN. METHODS: This cross-sectional study investigated the relationship between the presence of serum anti-H. pylori IgG antibodies, AG, and advanced CRN in 6,351 consecutive asymptomatic subjects who underwent a screening colonoscopy. RESULTS: A total of 316 participants (5.0%) had advanced CRN. H. pylori seropositivity was 61.3%. In a univariate analysis, the presence of H. pylori infection was associated with advanced CRN (odds ratio [OR], 1.49; 95% confidence interval [CI], 1.17 to 1.91; p=0.001). H. pylori infection was associated with an increased risk of advanced CRN after adjusting for clinically relevant confounders (OR, 1.34; 95% CI, 1.04 to 1.72; p=0.023). H. pylori-related AG was significantly associated with the risk of advanced CRN (OR, 1.40; 95% CI, 1.03 to 1.91; p=0.030), whereas H. pylori infection without AG was not. CONCLUSIONS: H. pylori infection increased the risk of advanced CRN, especially when it was combined with AG. Strict colonoscopy screening and surveillance may be warranted in those with H. pylori-positive AG.


Asunto(s)
Anticuerpos , Atrofia , Colon , Neoplasias del Colon , Colonoscopía , Neoplasias Colorrectales , Estudios Transversales , Gastritis , Gastritis Atrófica , Helicobacter pylori , Helicobacter , Inmunoglobulina G , Tamizaje Masivo , Factores de Riesgo , Neoplasias Gástricas
20.
Gut and Liver ; : 902-909, 2016.
Artículo en Inglés | WPRIM | ID: wpr-132235

RESUMEN

BACKGROUND/AIMS: Helicobacter pylori is a major risk factor for atrophic gastritis (AG) and gastric cancer. The correlation between H. pylori, AG and colorectal neoplasm (CRN) has only been examined in a limited number of studies, and findings have been inconclusive. We aimed to investigate the association between H. pylori infection status, AG and advanced CRN. METHODS: This cross-sectional study investigated the relationship between the presence of serum anti-H. pylori IgG antibodies, AG, and advanced CRN in 6,351 consecutive asymptomatic subjects who underwent a screening colonoscopy. RESULTS: A total of 316 participants (5.0%) had advanced CRN. H. pylori seropositivity was 61.3%. In a univariate analysis, the presence of H. pylori infection was associated with advanced CRN (odds ratio [OR], 1.49; 95% confidence interval [CI], 1.17 to 1.91; p=0.001). H. pylori infection was associated with an increased risk of advanced CRN after adjusting for clinically relevant confounders (OR, 1.34; 95% CI, 1.04 to 1.72; p=0.023). H. pylori-related AG was significantly associated with the risk of advanced CRN (OR, 1.40; 95% CI, 1.03 to 1.91; p=0.030), whereas H. pylori infection without AG was not. CONCLUSIONS: H. pylori infection increased the risk of advanced CRN, especially when it was combined with AG. Strict colonoscopy screening and surveillance may be warranted in those with H. pylori-positive AG.


Asunto(s)
Anticuerpos , Atrofia , Colon , Neoplasias del Colon , Colonoscopía , Neoplasias Colorrectales , Estudios Transversales , Gastritis , Gastritis Atrófica , Helicobacter pylori , Helicobacter , Inmunoglobulina G , Tamizaje Masivo , Factores de Riesgo , Neoplasias Gástricas
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