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1.
Foodborne Pathog Dis ; 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38442228

RESUMO

Multidrug-resistant (MDR) Salmonella enterica serovar Agona infections affect public health globally. This investigation aimed to ascertain the antimicrobial resistance profiles and molecular characteristics of Salmonella Agona isolates obtained from food-producing animals. A total of 209 Salmonella Agona isolates were recovered from mostly chickens (139 isolates), pigs (56 isolates), cattle (11 isolates), and ducks (3 isolates) between 2010 and 2020 in South Korea. In addition, these Salmonella Agona isolates were obtained from 25 slaughterhouses nationwide. Furthermore, this serotype suddenly increased in chickens in 2020. Salmonella Agona from chickens showed high resistance (69-83%) to ampicillin, streptomycin, tetracycline, trimethoprim/sulfamethoxazole, and chloramphenicol. Moreover, chicken/duck isolates (83.1%) showed significantly higher levels of MDR than cattle/pig isolates (1.5%). For molecular analysis by pulsed-field gel electrophoresis, infrared spectroscopy biotyping, and multilocus sequence typing in combination, a total of 23 types were observed. Especially two major types, P1-III-2-13 and P1-IV-2-13, comprised 59.3% of the total isolates spreading in most farms. Moreover, Salmonella Agona sequence type (ST)13 was predominant (96.7%) among three different STs (ST13, ST11, and ST292) widely detected in chickens (94.3%) in most farms located nationwide. Taken together, MDR Salmonella Agona in chickens might pose a potential risk to public health through direct contact or the food chain.

2.
Anal Bioanal Chem ; 415(10): 1991-1999, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36853410

RESUMO

MicroRNA (miRNA) sensing strategies employing rolling circle amplification (RCA) coupled with the hairpin DNA (HD) probe-mediated FRET assay have shown promise, but achieving rapid, sensitive, and specific detection of target miRNA remains a challenge in clinical diagnostics. Herein, we incorporate PstI endonuclease cleavage (PEC) into a conventional RCA-based HD probe FRET assay to develop an effective and feasible method. Long single-stranded RCA products are synthesized from miRNA-21 loaded on a circular dumbbell DNA, and the resultant RCA products self-assemble to generate long HD structures with double-stranded stem regions that are specifically recognized and cleaved by PstI endonucleases when incubated with PstI enzymes. This releases large amounts of short single-stranded DNA fragments that hybridize and open to the complementary loop-stem regions of HD probes labeled with FAM at one end and BHQ-1 at the other, resulting in a reduction in FRET efficiency. This assay achieves a 39.7 aM detection limit for target miRNA-21, approximately 37-fold higher than that of the conventional assay (1.5 fM). Moreover, quantitative detection is possible in a wide range from 1 aM to 1 pM within 90 min with high sequence specificity. We demonstrate the assay with the detection of target miRNA-21 in total RNA extracted from MCF-7 cancer cells.


Assuntos
Técnicas Biossensoriais , MicroRNAs , Humanos , MicroRNAs/genética , Endonucleases , DNA/química , Sondas de DNA/química , Bioensaio , Corantes , Técnicas de Amplificação de Ácido Nucleico/métodos , Limite de Detecção , Técnicas Biossensoriais/métodos
3.
Analyst ; 147(22): 5170-5177, 2022 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-36239244

RESUMO

A simple, reliable, and cost-effective method for nucleic acid detection is of increasing interest in clinical diagnostics of infectious and genetic diseases. Currently, enzyme-mediated methods such as polymerase chain reactions and loop-mediated isothermal amplification are the most widely used methods in the qualitative and quantitative diagnosis of long nucleic acid sequences with high sensitivity. However, a high detection sensitivity for short-length sequences remains a significant challenge because it is difficult for the primers to bind to their sequences. Our previous study demonstrated a simple, enzyme-free, and sequence-specific colorimetric detection of 24-nucleotide short target DNA at room temperature using a developed assay that combines catalytic hairpin assembly (CHA) and enzyme-linked immunosorbent assay (ELISA)-mimicking methods. In this follow-up study, we aim to design and develop DNA-based signal amplifiers, or DNA dendrons, to improve the colorimetric detection of short target cDNA in the CHA-mediated ELISA-mimicking assay. DNA dendrons are highly branched conformations synthesized by the molecular self-assembly of three DNA oligomers. The assay using DNA dendrons demonstrates an enhanced detection sensitivity with the detection of approximately 50 pM of 24-nucleotide short target cDNA, which is a 16.4-fold higher detection limit compared to that obtained without DNA dendrons under the same conditions. Thus, applications of the developed DNA dendrons as an effective signal amplifier in DNA probe-based chemiluminescence assays have the potential to improve the colorimetric detection of short target cDNA with high sensitivity for the diagnosis of different diseases.


Assuntos
Técnicas Biossensoriais , Dendrímeros , Colorimetria/métodos , DNA Complementar/genética , Seguimentos , Luminescência , DNA/genética , DNA/análise , Técnicas de Amplificação de Ácido Nucleico/métodos , Sondas de DNA/genética , Nucleotídeos , Limite de Detecção , Técnicas Biossensoriais/métodos
4.
Support Care Cancer ; 29(3): 1653-1661, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32761518

RESUMO

PURPOSE: The main objective of this study was to use the framework of the self-determination theory, incorporating both internal and external sources of motivation, to identify factors influencing physical activity among colorectal cancer survivors (CRC-S) in Korea. METHOD: In total, 242 patients at a university-affiliated hospital in Seoul, Korea, responded to a descriptive survey, which comprised questionnaire sets including the Global Physical Activity Questionnaire and the Patient Health Questionnaire. Motivation was then assessed on three scales: the Treatment Self-Regulation (autonomy), Perceived Competence (competence), and the multidimensional Scale of Perceived Social Support (relatedness). Logistic regression analysis was then used to identify factors associated with physical activity. RESULT: The mean physical activity score was 16.07 metabolic equivalent hours per week, and only 23.3% of patients had an appropriate level of exercise. In the logistic regression analysis, physical activity was associated with competence (odds ratio (OR) = 1.36, 95% confidence interval (CI): 1.06-1.74), relatedness (OR = 1.11, 95% CI: 1.04-1.18), depression (OR = 0.84, 95% CI: 0.75-0.94), and stage I or II disease (OR = 3.33, 95% CI: 1.28-1.86). This study indicated that competence, relatedness, depression, and the disease stage contributed to physical activity among these subjects while autonomy did not. CONCLUSION: Future interventions to achieve the recommended levels of physical activity among CRC-S could benefit from taking into account the disease stage as well as psychosocial factors including motivation and depression.


Assuntos
Sobreviventes de Câncer/psicologia , Neoplasias Colorretais/psicologia , Exercício Físico/psicologia , Autonomia Pessoal , Adulto , Idoso , Neoplasias Colorretais/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Análise de Sobrevida , Adulto Jovem
5.
J Adv Nurs ; 77(11): 4332-4346, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34118170

RESUMO

AIMS: This study systematically reviews the literature regarding preoperative stoma site marking and discusses the effectiveness of the procedure on complication rates, self-care deficits and health-related quality of life (HRQOL). DESIGN: Systematic review and meta-analysis. DATA SOURCE: Our review was conducted following the PRISMA guidelines. PubMed, EMBASE, Cochrane and CINAHL databases were searched to obtain articles published in English. Articles were also retrieved from Korean databases as well. Our last search was conducted on 2 June 2019. REVIEW METHODS: Two reviewers independently selected relevant studies, evaluated their methodological quality and extracted data. Experimental and observational studies were included. Our main focus was on complication rates, self-care deficits and HRQOL. We conducted meta-analysis using the statistical software spss 25.0 and Stata 13.0. RESULTS: Of the 1,039 articles reviewed, 20 were included for review, and 19 were used for quantitative synthesis. Preoperative stoma site marking reduced complication rates (odds ratio [OR]: 0.47; 95% confidence interval [CI]: 0.36-0.62; I2 : 70.6%), lowered self-care deficits (OR: 0.34; 95% CI: 0.18-0.64; I2 : 0%), and increased HRQOL (standardized mean difference, 1.05; 95% CI: 0.70-1.40; I2 : 0%). Quality appraisal results for both the individual studies and the studies overall were excellent. The possibility of publication bias was low. CONCLUSIONS: Our findings indicate that preoperative stoma site marking improves patient outcomes: stoma-related complication rates and self-care deficits decrease and HRQOL rises. For this reason, preoperative stoma site marking should be a mandatory procedure in clinical settings. The practice should also be supported by policymakers and healthcare expert associations. IMPACT: Preoperative stoma site marking reduces overall complication rates by 53% and skin problems by 59%. Preoperative stoma site marking also improves self-care and health-related quality of life. We recommend that preoperative stoma site marking should be a mandatory procedure in clinical settings.


Assuntos
Qualidade de Vida , Autocuidado , Humanos
6.
Epilepsy Behav ; 112: 107393, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32839143

RESUMO

INTRODUCTION: The aim of the study was to evaluate the incidence of insulin resistance (IR) and the associated risk factors in children with epilepsy on a ketogenic diet (KD). METHODS: This longitudinal cohort study analyzed data of children with epilepsy on KD. Insulin resistance was assessed using the homeostasis model assessment of insulin resistance (HOMA-IR). The HOMA-IR value, fasting serum insulin levels, fasting glucose (FG) levels, and lipid profiles were measured before the initiation of the KD and at 6- to 12-month intervals. RESULTS: A total of 28 children were enrolled. The median age at the initiation of KD was 2.7 ±â€¯2.4 years, and the median follow-up duration was 2.1 ±â€¯1.4 years. The median HOMA-IR (HOMA-IR-1) value before the initiation of KD was 1.2 ±â€¯0.2, which significantly increased to 1.8 ±â€¯0.3 at the last follow-up (HOMA-IR-2; ∆HOMA-IR = 0.6 ±â€¯0.3, p < 0.001). The following factors were associated with patients with higher HOMA-IR-2 values (≥1.9): younger age at seizure onset (0.3 ±â€¯0.2 years, p < 0.001), at the initiation of antiepileptic drugs (AEDs; 0.3 ±â€¯0.3 years, p < 0.001), and at the initiation of KD (1.3 ±â€¯0.5 years, p < 0.001) and higher serum alanine transaminase (ALT; 84.0 ±â€¯17.8 U/L, p = 0.022), total cholesterol (TC; 245.0 ±â€¯20.1 mg/dL, p = 0.001), low-density lipoprotein cholesterol (LDL-C, 103.0 ±â€¯6.7 mg/dL, p = 0.003), and triglyceride (387.0 ±â€¯28.8 mg/dL, p < 0.001) levels. Multivariate regression analysis revealed that the age at seizure onset (p = 0.002), at initiation of AEDs (p = 0.021), and at initiation of KD (p = 0.022) and serum levels of LDL-C (p = 0.012) and triglycerides (p = 0.026) were associated with a significantly high HOMA-IR-2 value. CONCLUSION: Close monitoring of serum lipids levels, especially at younger age, may aid in detecting exacerbation of IR.


Assuntos
Dieta Cetogênica , Epilepsia , Resistência à Insulina , Glicemia , Criança , Epilepsia/epidemiologia , Humanos , Estudos Longitudinais , Prevalência , Fatores de Risco , Triglicerídeos
7.
Int Wound J ; 16 Suppl 1: 51-61, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30793861

RESUMO

The incidence rate of patients developing pressure ulcers associated with medical device use is underreported in Korea. This study aims to determine clinical nurses' perceived importance and performance towards medical device-related pressure injury prevention. A total of 620 nurses from seven hospitals attending continuing education programmes in Korea responded to self-administered questionnaires. Data were collected from March to December 2017 on a 4-point-Likert scale on nurses' perceived importance and performance for prevention of medical device-related pressure ulcer (MDRPU). Secondary data analysis was performed through reported pressure injury incidence, and questionnaire data were analysed using descriptive statistics, t-test, and anova. The overall rates of hospital-acquired pressure ulcers and MDRPU were 16.9% and 0.8%, respectively. The proportion of MDRPU was 5.02%. Its perceived importance (3.56 ± 0.48) was also higher than prevention performance (3.13 ± 0.90) among nurses. Education level and participation in pressure injury management training was found to enhance prevention performance by nurses. Therefore, informational and educational programmes based on clinical practice are necessary for clinical nurses to focus on perceived importance and performance towards prevention of medical device-related pressure injury and pressure ulcer care.


Assuntos
Atitude do Pessoal de Saúde , Enfermagem de Cuidados Críticos/métodos , Equipamentos e Provisões/efeitos adversos , Recursos Humanos de Enfermagem Hospitalar/psicologia , Recursos Humanos de Enfermagem Hospitalar/estatística & dados numéricos , Úlcera por Pressão/enfermagem , Úlcera por Pressão/prevenção & controle , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Úlcera por Pressão/etiologia , República da Coreia
8.
Pediatr Int ; 60(9): 855-861, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29998580

RESUMO

BACKGROUND: Lack of cerebrospinal fluid (CSF) pleocytosis has been reported in some children with enteroviral meningitis (EVM). The aim of this paper was to investigate the clinical spectrum and related factors in EVM with CSF non-pleocytosis. METHODS: The databases of children diagnosed with EVM on CSF polymerase chain reaction between 2011 and 2014 were retrospectively reviewed. CSF pleocytosis was defined at each age using the criteria. Clinical and laboratory variables were compared between patients with CSF pleocytosis and non-pleocytosis. RESULTS: Of the 802 children of EVM, 25.4% (204/802) had CSF non-pleocytosis. In particular, CSF non-pleocytosis was found in 63.3% of the neonates versus in 22.2% of the children aged ≥1 year old, indicating that the ratio of CSF non-pleocytosis had a negative correlation with age (P < 0.001). As the main symptoms, fever (91.8% vs 86.8%, P = 0.038), headache (80.3% vs 63.7%, P < 0.001), and vomiting (75.9% vs 61.8%, P < 0.001) were significantly more frequent in CSF pleocytosis than in CSF non-pleocytosis. Patients with CSF non-pleocytosis had much lower peripheral leukocytosis (10 656 ± 3,662 vs 12 403 ± 4,207/mm3 , P = 0.014) and C-reactive protein (0.7±0.8 vs 1.2±1.5 mg/dL, P < 0.001), and earlier lumbar puncture <24 h after onset (42.6% vs 21.4%, p<0.001). No significant difference during the summer and autumn months was seen between the two groups (76.9% vs 81.9%, P = 0.169). CONCLUSION: CSF non-pleocytosis in childhood EVM was frequently observed, especially in young infants, regardless of season. We propose that CSF PCR testing for enterovirus can be helpful to recognize EVM in children with CSF non-pleocytosis.


Assuntos
Líquido Cefalorraquidiano/citologia , Infecções por Enterovirus/diagnóstico , Meningite Viral/diagnóstico , Adolescente , Criança , Pré-Escolar , Enterovirus/isolamento & purificação , Feminino , Humanos , Lactente , Recém-Nascido , Leucocitose , Masculino , Reação em Cadeia da Polimerase , Estudos Retrospectivos
9.
Clin Genet ; 92(6): 594-605, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28425089

RESUMO

BACKGROUND: As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. MATERIALS AND METHODS: We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea. We applied targeted exome sequencing using the Next Seq platform and a TruSight One panel. RESULTS: Among the 13 families, 6 different disorders in 8 patients with short stature or overgrowth were identified, and the diagnostic yield was 46.2%. One boy with overgrowth had a TGFB3 gene mutation. In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with optic atrophy and Pelger-Huët anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified. One CLS patient had a co-existing monogenic disease, congenital glaucoma, caused by the compound heterozygote mutations of the CYP1B1 gene. CONCLUSION: Targeted exome sequencing is a powerful method for diagnosing syndromic growth disorders. It enables us to understand molecular pathophysiology and investigate new treatments for growth disorders.


Assuntos
Nanismo/diagnóstico , Exoma , Predisposição Genética para Doença , Gigantismo/diagnóstico , Proteínas Serina-Treonina Quinases/genética , Proteínas Tirosina Quinases/genética , Fator de Crescimento Transformador beta3/genética , Criança , Pré-Escolar , Nanismo/classificação , Nanismo/genética , Feminino , Expressão Gênica , Gigantismo/genética , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Mutação , Linhagem , Estudos Prospectivos , República da Coreia , Quinases Dyrk
10.
Int Wound J ; 13 Suppl 1: 26-32, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26847936

RESUMO

The objective of this study was to evaluate the effect of pressure ulcer classification system education on clinical nurses' knowledge and visual differential diagnostic ability of pressure ulcer (PU) classification and incontinence-associated dermatitis (IAD). One group pre and post-test was used. A convenience sample of 407 nurses, participating in PU classification education programme of continuing education, were enrolled. The education programme was composed of a 50-minute lecture on PU classification and case-studies. The PU Classification system and IAD knowledge test (PUCS-KT) and visual differential diagnostic ability tool (VDDAT), consisting of 21 photographs including clinical information were used. Paired t-test was performed using SPSS/WIN 20.0. The overall mean difference of PUCS-KT (t = -11·437, P<0·001) and VDDAT (t = -21·113, P<0·001) was significantly increased after PU classification education. Overall understanding of six PU classification and IAD after education programme was increased, but lacked visual differential diagnostic ability regarding Stage III PU, suspected deep tissue injury (SDTI), and Unstageable. Continuous differentiated education based on clinical practice is needed to improve knowledge and visual differential diagnostic ability for PU classification, and comparison experiment study is required to examine effects of education programmes.


Assuntos
Educação Continuada em Enfermagem , Incontinência Fecal/complicações , Úlcera por Pressão/classificação , Úlcera por Pressão/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Coreia (Geográfico) , Masculino , Diagnóstico de Enfermagem , Úlcera por Pressão/etiologia
11.
Int Wound J ; 13 Suppl 1: 47-51, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26847938

RESUMO

This study aimed to investigate Korean nurses' level of awareness of pain and skin tearing in wound bed and/or peri-wound skin at dressing change. A descriptive study was performed. Convenience sampling was employed and registered nurses were recruited from attendees of continuing education program. A total of 399 participants (RN) completed questionnaire. Data was collected from September to November 2014. Many of them perceived skin tearing and wound related pain associated with dressing changing, but most of them did not assess and record pain and skin tearing at dressing change. More than half of respondents reported that they did not provide nursing intervention to prevent pain and skin tearing. Many of them reported that a systematic educational program for preventing pain and skin tearing at dressing change was needed. In conclusion, many of respondents were aware of pain and skin tearing at dressing change, but did not take any further necessary measures, including nursing intervention, for the most appropriate, systematic pain and skin tearing management. Therefore, this study suggested that a systematic and comprehensive educational program for Korean healthcare professions needs to be developed and implemented in Korea's hospital settings.


Assuntos
Enfermeiras e Enfermeiros/psicologia , Dor , Pele/lesões , Adulto , Povo Asiático , Bandagens , Feminino , Humanos , Inquéritos e Questionários
12.
Bioorg Chem ; 61: 58-65, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26123174

RESUMO

The pyridine core skeleton of the previously reported dichloropyridine-based potent hP2X7 receptor antagonist 5 (IC50 = 13 nM in hP2X7-expressing HEK293 cells) was modified with various heterocyclic scaffolds. Among the derivatives with quinoline, quinazoline, acridine, and purine scaffolds, the chloropurine-based analog 9o exhibited the most potent antagonistic activity, with an IC50 value of 176 ± 37 nM in an ethidium bromide uptake assay. In addition, 9o significantly inhibited IL-1ß release in THP-1 cells stimulated with LPS/IFN-γ/BzATP (IC50 = 120 ± 15 nM). Although 9o was less active than the previous antagonist 5, 9o exhibited greatly improved metabolic stability in the in vitro evaluation (71.4% in human, 72.3% in mouse).


Assuntos
Compostos Heterocíclicos/química , Antagonistas do Receptor Purinérgico P2X/química , Purinas/química , Animais , Avaliação Pré-Clínica de Medicamentos , Células HEK293 , Compostos Heterocíclicos/síntese química , Humanos , Camundongos , Microssomos Hepáticos/metabolismo , Ligação Proteica , Antagonistas do Receptor Purinérgico P2X/metabolismo , Receptores Purinérgicos P2X7/química , Receptores Purinérgicos P2X7/metabolismo , Relação Estrutura-Atividade
13.
Childs Nerv Syst ; 30(1): 73-82, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23760472

RESUMO

PURPOSE: The morphological changes and expression patterns of neuronal antigens of human embryos, obtained from the therapeutic termination of pregnancy or from surgical procedures, were analyzed in order to characterize the secondary neurulation. METHODS: A total of 21 human embryos from Carnegie stages 12 to 23 and two fetuses in early stages were studied. The markers used for immunohistochemical study were neural cell adhesion molecule (N-CAM), neuronal nuclear antigen (NeuN), neurofilament-associated protein (3A10), synaptophysin, and glial fibrillary acidic protein (GFAP). RESULTS: The formation of the caudal neural tube to the tip of the caudal portion of the embryo was finished at stage 17. The postcloacal gut had completely disappeared at stage 18, and multiple cavities of the caudal neural tube were clearly visible. The caudal portion of the neural tube showed findings suggestive of involution at stage 19. The expression patterns of neuronal antigens were as follows: N-CAM and NeuN showed immunoreactivity at the germinal layer of the spinal cord at stages 17 and 18. Neurofilament-associated protein (3A10) showed persistent immunoreactivity at the caudal cell mass and notochord during the observation period, along with the spinal cord, and the positive reactions were mainly located at the dorsal white matter at stage 17. Synaptophysin showed a weak positive reaction at the caudal cell mass and notochord at stages 13 and 14, evident by staining observed at the spinal cord at stages 15 and 16. There was no definite positive reaction for GFAP. CONCLUSIONS: These characteristic patterns might be helpful for the understanding of human congenital anomalies involving secondary neurulation processes.


Assuntos
Embrião de Mamíferos/embriologia , Embrião de Mamíferos/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Proteínas do Tecido Nervoso/biossíntese , Neurônios/metabolismo , Neurulação/fisiologia , Feminino , Humanos , Gravidez
14.
Pediatr Neonatol ; 65(5): 445-450, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38281861

RESUMO

BACKGROUND: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID. METHODS: We conducted a retrospective analysis of WES results of children under 19 years of age with unexplained DD/ID between January 2020 and December 2021. The demographic data of all patients and variants identified through WES were evaluated. Furthermore, we evaluated the clinical characteristics that influenced the identification of genetic causes. RESULTS: Forty-one patients with DD/ID were included, of whom 21 (51.2 %) were male. The average age at symptom onset was 1.6 ± 1.3 years, and the duration from symptom onset to diagnosis was 3.1 ± 3.7 years. Hypotonia was the most common symptom (17 patients, 41.5 %), and epilepsy was confirmed in 10 patients (24.4 %). Twenty-two pathogenic/likely pathogenic variants were identified in 20 patients, and three variants of uncertain significance were identified in three patients. Family-based trio Sanger sequencing for candidate variants of 12 families was conducted; 10 variants were de novo, one variant paternally inherited, and two variants compound heterozygous. The diagnostic yield of WES for DD/ID was 48.8 % and was significantly high in patients with an early onset of DD/ID and facial dysmorphism. In contrast, patients with autism spectrum disorder (ASD) were more likely to have negative WES results compared with others without ASD. CONCLUSION: The diagnostic yield of WES was 48.8 %. We conclude that patients' characteristics, such as dysmorphic features and the age of symptom onset, can predict the likelihood that WES will identify a causal variant of a phenotype.


Assuntos
Deficiências do Desenvolvimento , Sequenciamento do Exoma , Deficiência Intelectual , Humanos , Masculino , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/diagnóstico , Feminino , Estudos Retrospectivos , Pré-Escolar , Deficiência Intelectual/genética , Criança , Lactente , Adolescente
15.
Eur J Oncol Nurs ; 66: 102382, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37542970

RESUMO

OBJECTIVES: This study aimed to examine the effectiveness of a bowel function improvement program for male patients with rectal cancer who underwent low anterior resection. METHODS: A prospective, unblinded, and randomized controlled trial was conducted. The enrolled 42 patients were assigned to the experimental or control group at a 1:1 ratio. The bowel function improvement program comprised a 4-week intensive program (face-to-face education and telephone coaching) and an 8-week maintenance program (text messages). Self-efficacy, bowel function, health-related quality of life, and healthcare resource utilization were measured. Collected data were analyzed using independent t-tests, chi-square tests, analysis of covariance, and generalized estimation equations to evaluate the effects of the program based on intention-to-treat. RESULTS: The bowel function improvement program was effective in improving bowel function 3 months after discharge. Additionally, the number of unplanned pharmacy visits was lower in the experimental group than in the control group. Health-related quality of life, self-efficacy, and utilization of other healthcare resources were not statistically or clinically significant. CONCLUSION: These findings indicated that the bowel function improvement program for male patients with rectal cancer was effective in improving bowel function and reducing unplanned healthcare resource utilization. The bowel function improvement program can be delivered as a nurse-led program in clinical practice to promote early recovery after low anterior resection. TRIAL REGISTRATION NUMBER: KCT0003505. https://cris.nih.go.kr/cris/search/detailSearch.do/13708.

16.
Antibiotics (Basel) ; 13(1)2023 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-38247586

RESUMO

The occurrence of antimicrobial-resistant bacteria in companion animals poses public health hazards globally. This study aimed to evaluate the antimicrobial resistance profiles and patterns of commensal E. coli strains obtained from fecal samples of healthy dogs and cats in South Korea between 2020 and 2022. In total, 843 E. coli isolates (dogs, n = 637, and cats, n = 206) were assessed for susceptibility to 20 antimicrobials. The resistance rates of the most tested antimicrobials were significantly higher in dog than in cat isolates. Cefalexin (68.9%) demonstrated the highest resistance rates, followed by ampicillin (38.3%), tetracycline (23.1%), and cefazolin (18.7%). However, no or very low resistance (0-0.6%) to amikacin, imipenem, piperacillin, and colistin was found in both dog and cat isolates. Overall, 42.3% of the isolates exhibited multidrug resistance (MDR). MDR in isolates from dogs (34.9%) was significantly higher than in those from cats (20.9%). The main components of the resistance patterns were cefalexin and ampicillin in both dog and cat isolates. Additionally, MDR patterns in isolates from dogs (29.2%) and cats (16%) were shown to encompass five or more antimicrobials. Multidrug-resistant commensal E. coli could potentially be spread to humans or other animals through clonal or zoonotic transmission. Therefore, the incidence of antimicrobial resistance in companion animals highlights the urgent need to restrict antimicrobial resistance and ensure the prudent use of antimicrobials in Korea.

17.
Ann Clin Lab Sci ; 53(6): 959-963, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38182156

RESUMO

Coffin-Siris syndrome (CSS) is a rare congenital disorder characterized by coarse facial features, intellectual disability or developmental delay, and aplasia or hypoplasia of the tips of the fifth finger and/or toes. Mutations in genes affecting the switch/sucrose non-fermenting ATP-dependent chromatin remodeling complex are reported to cause CSS. Here, we describe three CSS patients. Two girls aged 3 and 2 years old presented with global developmental delay, poor growth, and a dysmorphic face. Whole-exome sequencing (WES) was performed and they were diagnosed with CSS due to heterozygous frameshift variants (c.3443_3444del, p.Lys1148ArgfsTer9 and c.2869_2890del, p.Pro957CysfsTer20) in ARID1B A 2-year-old girl presented with gross motor delay and dysmorphic face. She was diagnosed with CSS due to a novel heterozygous frameshift variant (c.4942_4943del: p.Gln1648GlyfsTer8) in ARID2.


Assuntos
Anormalidades Múltiplas , Feminino , Humanos , Pré-Escolar , Anormalidades Múltiplas/genética , Face , Fácies , Mutação da Fase de Leitura/genética , Fatores de Transcrição/genética
18.
Epilepsia ; 52(4): 781-7, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21269294

RESUMO

PURPOSE: To compare the prognoses between short-term (8 months) and conventional long-term (> 2 years) trials involving patients with refractory infantile spasms who successfully completed the ketogenic diet (KD). METHODS: Of 40 patients who achieved seizure-free outcomes and showed improvement in hypsarrhythmic patterns within 6 months of the KD, with a 3:1 fat to nonfat ratio as an add-on treatment, 16 patients were randomized into the short-term trial group and the diet was tapered throughout two additional months. Twenty-four patients were randomized into a long-term trial group, and 19 patients could successfully discontinue the diet after 2 years. Primary outcome measures included seizure relapse and frequency of 35 patients for > 12 months after successful completion of the KD. KEY FINDINGS: Of 16 patients in the short-term trial group, two patients relapsed with clusters of spasms, and one patient had recurrence of occasional focal seizures. Of 19 patients in the long-term trial group, two patients progressed to Lennox-Gastaut syndrome and one patient experienced recurrence of occasional focal seizures with secondary generalization. An early response to the KD, evidenced by short latency before seizure freedom and disappearance of hypsarrythmia and cryptogenic etiology, may indicate a successful early discontinuation of the KD. Significant growth failure was complicated only in conventional long-term trial group. SIGNIFICANCE: Use of the KD for only 8 months in children who become spasm-free appears to be justified, with similar outcomes, recurrence rate, and less growth disturbance than a longer-term, traditional use.


Assuntos
Dieta Cetogênica/métodos , Avaliação de Resultados em Cuidados de Saúde/métodos , Espasmos Infantis/dietoterapia , Pré-Escolar , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/dietoterapia , Feminino , Humanos , Lactente , Masculino , Espasmos Infantis/diagnóstico , Fatores de Tempo , Resultado do Tratamento
19.
Foods ; 10(7)2021 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-34359471

RESUMO

The effects of starch (corn and quinoa) and quinoa seeds on chicken meatballs' physicochemical, textural, and sensory properties were investigated during frozen storage. The chicken meatballs were prepared with corn starch (CS), quinoa starch (QS), quinoa seeds (Q), and combinations of corn starch and quinoa seeds (CS-Q), and quinoa starch and quinoa seeds (QS-Q), which were subjected to five freeze-thaw (F-T) cycles of temperature fluctuation conditions during frozen storage. Regardless of the type used (CS or QS), adding starch resulted in fewer cooking, drip, and reheating losses in chicken meatballs during frozen storage. The values of the hardness, gumminess, and chewiness of chicken meatballs with CS or QS were half those of chicken meatballs without starch, indicating that the addition of starch inhibited the change in the meatballs' texture. The total volatile basic nitrogen (TVB-N) and thiobarbituric acid reactive substance (TBARS) values were progressive but did not dynamically increase during five F-T cycles. Chicken meatballs containing CS-Q or QS-Q showed significantly lower TBARS values than those with CS, QS, or Q after five F-T cycles. Adding quinoa seeds significantly increased the antioxidant activity and the chewiness of meatballs (p < 0.05) compared with starch only. The addition of the combination of QS-Q to chicken meatballs increased the values of taste, texture, and overall acceptability, indicating that quinoa starch and seeds may be introduced as premium ingredients to frozen meat products.

20.
Clin Exp Pediatr ; 64(3): 103-110, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32403899

RESUMO

Inflammatory or immune-mediated demyelinating central nervous system (CNS) syndromes include a broad spectrum of clinical phenotype and different overlapping diseases. Antibodies against myelin oligodendrocyte glycoprotein (MOG-Ab) have been found in some cases of these demyelinating diseases, particularly in children. MOG-Ab is associated with a wider clinical phenotype not limited to neuromyelitis optica spectrum disorder, with most patients presenting with optic neuritis, acute disseminated encephalomyelitis (ADEM) or ADEM-like encephalitis with brain demyelinating lesions, and/or myelitis. Using specific cell-based assays, MOG-Ab is becoming a potential biomarker of inflammatory demyelinating disorders of the CNS. A humoral immune reaction against MOG was recently found in monophasic diseases and recurrent/multiphasic clinical progression, particularly in pediatric patients. This review summarizes the data regarding MOG-Ab as an impending biological marker for discriminating between these diverse demyelinating CNS diseases and discusses recent developments, clinical applications, and findings regarding the immunopathogenesis of MOG-Ab-associated disorders.

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