Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 5.901
Filtrar
1.
Artigo em Inglês | WPRIM | ID: wpr-1041937

RESUMO

Background@#A nationwide anti-parasite control program (1969–1995) successfully reduced soil-transmitted helminth infections; however, fish-borne trematode infections persisted in some areas. Since the 2012 National Parasite Infection Survey, information on the current status of intestinal helminth infections has not been updated. Analysis of the current trends in intestinal helminth infections is necessary to prevent and manage parasitic diseases in Korea. @*Methods@#This retrospective study analyzed the prevalence of intestinal parasites in 1,211,799 individuals who visited 16 regional branches of the Korea Association of Health Promotion between 2011 and 2020. Examinations were performed using microscopy and Kato's method. The results were analyzed according to parasite species, year, sex, age, and region of origin. @*Results@#Intestinal helminth infections remained above 2.0% from 2011 to 2014 but decreased to 1.0% by 2020. Clonorchis sinensis had the highest infection rate (1.3%), followed by Metagonimus yokogawai (0.3%) and Trichuris trichiura (0.2%). Men had a higher infection rate (2.4%) than that of women (1.2%). The infection rate was higher among those in their 50s (2.0%), 60s, and older (1.8%). The highest regional infection rates were observed in Gyeongnam (4.8%), Ulsan (3.1%), Gyeongbuk (2.5%), Busan (1.8%), and Jeonnam (1.6%). @*Conclusion@#These results provide valuable insights into the decreasing prevalence and epidemiological characteristics of intestinal helminth infections in the Korean population.Therefore, various control measures are needed to prevent intestinal helminth infections, and continuous monitoring is essential until they are eradicated.

2.
Annals of Coloproctology ; : 89-113, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1041956

RESUMO

Colorectal cancer is the third most common cancer in Korea and the third leading cause of death from cancer. Treatment outcomes for colon cancer are steadily improving due to national health screening programs with advances in diagnostic methods, surgical techniques, and therapeutic agents.. The Korea Colon Cancer Multidisciplinary (KCCM) Committee intends to provide professionals who treat colon cancer with the most up-to-date, evidence-based practice guidelines to improve outcomes and help them make decisions that reflect their patients’ values and preferences. These guidelines have been established by consensus reached by the KCCM Guideline Committee based on a systematic literature review and evidence synthesis and by considering the national health insurance system in real clinical practice settings. Each recommendation is presented with a recommendation strength and level of evidence based on the consensus of the committee.

3.
Artigo em Inglês | WPRIM | ID: wpr-1042155

RESUMO

Identifying tumors or wounds on the scalp is difficult because hair blocks the vision during surgery and suturing. In the meantime, we have commonly used hairpins to hold the hair for a clearer view; however, we would like to suggest a new method, a “hair-fixing sheet,” consisting of hook-like surface. We applied the two methods, hair-fixing sheets and hairpins, assuming several situations. In these situations, it was possible to fix a wider range or various shapes more conveniently using a hair-fixing sheet than using several hairpins at a similarly low cost. In addition, it was easy to change the hair to be fixed, remove it postoperatively, and prevent the hair from being pulled out, thereby preventing additional postoperative pain.

4.
Artigo em Inglês | WPRIM | ID: wpr-1042348

RESUMO

Purpose@#This subgroup analysis of the Korean subset of patients in the phase 3 LASER301 trial evaluated the efficacy and safety of lazertinib versus gefitinib as first-line therapy for epidermal growth factor receptor mutated (EGFRm) non–small cell lung cancer (NSCLC). @*Materials and Methods@#Patients with locally advanced or metastatic EGFRm NSCLC were randomized 1:1 to lazertinib (240 mg/day) or gefitinib (250 mg/day). The primary endpoint was investigator-assessed progression-free survival (PFS). @*Results@#In total, 172 Korean patients were enrolled (lazertinib, n=87; gefitinib, n=85). Baseline characteristics were balanced between the treatment groups. One-third of patients had brain metastases (BM) at baseline. Median PFS was 20.8 months (95% confidence interval [CI], 16.7 to 26.1) for lazertinib and 9.6 months (95% CI, 8.2 to 12.3) for gefitinib (hazard ratio [HR], 0.41; 95% CI, 0.28 to 0.60). This was supported by PFS analysis based on blinded independent central review. Significant PFS benefit with lazertinib was consistently observed across predefined subgroups, including patients with BM (HR, 0.28; 95% CI, 0.15 to 0.53) and those with L858R mutations (HR, 0.36; 95% CI, 0.20 to 0.63). Lazertinib safety data were consistent with its previously reported safety profile. Common adverse events (AEs) in both groups included rash, pruritus, and diarrhoea. Numerically fewer severe AEs and severe treatment–related AEs occurred with lazertinib than gefitinib. @*Conclusion@#Consistent with results for the overall LASER301 population, this analysis showed significant PFS benefit with lazertinib versus gefitinib with comparable safety in Korean patients with untreated EGFRm NSCLC, supporting lazertinib as a new potential treatment option for this patient population.

5.
Artigo em Inglês | WPRIM | ID: wpr-1042373

RESUMO

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

6.
Clinical Endoscopy ; : 424-433, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1042582

RESUMO

Colonic stent placement is a commonly used bridging strategy for surgery in patients with obstructive colorectal cancer. The procedure involves the placement of a self-expandable metallic stent (SEMS) across the obstructive lesion to restore intestinal patency and alleviate the symptoms of obstruction. By allowing patients to receive surgery in a planned and staged manner with time for preoperative optimization and bowel preparation, stent placement may reduce the need for emergency surgery, which is associated with higher complication rates and poorer outcomes. This review focuses on the role of colon stenting as a bridge to surgery in the management of obstructive colorectal cancer. SEMS as a bridge to surgery for left-sided colon cancer has been demonstrated to be particularly useful; however, further research is needed for its application in cases of right-sided colon cancer. Colon stent placement also has limitations and potential complications including stent migration, re-obstruction, and perforation. However, the timing of curative surgery after SEMS placement remains inconclusive. Considering the literature to date, performing surgery at an interval of approximately 2 weeks is considered appropriate. Therefore, colonic stent placement may be an effective strategy as a bridge to surgery in patients with obstructive colorectal cancer.

7.
Artigo em Inglês | WPRIM | ID: wpr-1042699

RESUMO

Background@#There are few reports on the revision or reintervention of reverse total shoulder arthroplasty (RTSA) in South Korea.The purpose of this study was to evaluate the true incidence of complications and reintervention of RTSA and clinical and radiological outcomes based on our 14-year experience in RTSA in a Korean population. @*Methods@#Between March 2008 and June 2022, 412 consecutive cases of RTSA were performed in 388 patients with an average age of 74.4 years at our institute. Excluding 23 patients lost to follow-up, 365 patients (373 shoulders including 8 bilateral cases) who underwent primary RTSA with more than 6 months of follow-up were enrolled in this study. We evaluated those who had complications or reintervention including revision RTSA for failed RTSA. Patient charts were reviewed, and clinical outcomes including clinical scores, complications, and reintervention and radiologic outcomes were evaluated at the last follow-up. @*Results@#Among the 373 shoulders that underwent primary RTSA, complications were found in 50 patients (13.94%, 10 men and 40 women with a mean age of 75.9 ± 6.7 years [range, 51–87 years]). The causes of complications were as follows: 13 acromion, coracoid, or scapular spine fractures, 10 loosening (glenoid: 5, humeral stem: 5), 5 infections, 4 periprosthetic fractures, 2 instability, 2 neurologic complications, and 14 miscellaneous complications. Twenty patients (5.63%, 4 men and 16 women with a mean age of 74.2 ± 8.2 years [range, 51–87 years]) underwent reintervention. The interval to the first reintervention was 27.8 ± 23.1 months (range, 0.1–78 months). The causes of reintervention (20 cases) were 8 loosening (glenoid: 4, humeral stem: 4), 5 infections, 5 fractures, and 2 instability. Among them, 15 component revisions (4.02%) were performed. At the last follow-up, American Shoulder and Elbow Surgeons, University of California at Los Angeles, and Simple Shoulder Test scores were improved from 25.4, 12.4, and 1.6 preoperatively to 40.4, 16.2, and 3.2, respectively. Forward flexion (48° to 87°), abduction (52° to 79°), external rotation (18° to 22°), and internal rotation (buttock to L2) were improved. @*Conclusions@#After primary RTSA in a Korean population, the complication, reintervention, and revision rates were 13.94%, 5.63%, and 4.02%, respectively. Careful evaluation of the complications and adequate treatments should be performed.

8.
Artigo em Inglês | WPRIM | ID: wpr-1042711

RESUMO

Background@#Osteochondral autologous transplantation (OAT) has been widely used in the treatment of osteochondral lesion of the talus (OLT). Previous studies have reported successful outcomes following the use of osteochondral autogenous grafts from the intercondylar notch of the knee or a non-weight-bearing region of the femoral condyle. However, donor-site morbidity of the knee joint has been observed in several cases. This study aimed to investigate the outcomes and safety of OAT with autografts from the ipsilateral lateral talar articular facet as an alternative donor site for medial OLT. @*Methods@#Among 40 patients who underwent OAT, 29 patients were excluded. Eleven patients who underwent OAT with an osteochondral graft harvested from the ipsilateral lateral talar articular facet from 2011 to 2022 were retrospectively analyzed. The size of OLT was measured on ankle magnetic resonance imaging, including coronal length, sagittal length, depth, and area. Clinical outcomes were evaluated using the American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot scale and a visual analog scale (VAS). Weight-bearing ankle radiographs were obtained postoperatively and at 1 year after surgery. @*Results@#The average follow-up time after surgery was 64.7 months (range, 14–137 months). The average diameter of lesions was 8.8 mm (range, 8–9.9 mm). The average size of lesions was 51.2 mm2 (range, 33.6–71.3 mm2 ) , and all lesions included subchondral cysts. The average depth of lesions was 7.3 mm (range, 6.2–9.1 mm). Graft sizes ranged from 8 to 10 mm in diameter (8 mm, n = 1; 10 mm, n = 10) All measured clinical outcomes improved postoperatively, including the AOFAS scores (preoperative, 55.4 ± 9.0;1-year follow-up, 92.1 ± 7.6; p = 0.001) and VAS scores (preoperative, 5.5 ± 0.7; 1-year follow-up, 1.9 ± 0.8; p = 0.001). All weightbearing ankle radiographs of the graft and donor sites did not reveal arthritic change in the ankle joint, lateral talar dome collapse, and graft-site delayed union or nonunion at 1 year after surgery. @*Conclusions@#For a single medial OLT, harvesting autografts from the ipsilateral lateral talar articular facet without knee donorsite morbidities can be a good alternative in OAT for OLT.

9.
Artigo em Inglês | WPRIM | ID: wpr-1042815

RESUMO

Background@#This study evaluated the effects of a mobile diabetes management program called “iCareD” (College of Medicine, The Catholic University of Korea) which was integrated into the hospital’s electronic medical records system to minimize the workload of the healthcare team in the real clinical practice setting. @*Methods@#In this retrospective observational study, we recruited 308 patients. We categorized these patients based on their compliance regarding their use of the iCareD program at home; compliance was determined through self-monitored blood glucose inputs and message subscription rates. We analyzed changes in the ABC (hemoglobin A1c, blood pressure, and low-density lipoprotein cholesterol) levels from the baseline to 12 months thereafter, based on the patients’ iCareD usage patterns. @*Results@#The patients comprised 92 (30%) non-users, 170 (55%) poor-compliance users, and 46 (15%) good-compliance users; the ABC target achievement rate showed prominent changes in good-compliance groups from baseline to 12 months (10.9% vs. 23.9%, P<0.05), whereas no significant changes were observed for poor-compliance users and non-users (13.5% vs. 18.8%, P=0.106; 20.7% vs. 14.1%, P=0.201; respectively). @*Conclusion@#Implementing the iCareD can improve the ABC levels of patients with diabetes with minimal efforts of the healthcare team in real clinical settings. However, the improvement of patients’ compliance concerning the use of the system without the vigorous intervention of the healthcare team needs to be solved in the future.

10.
Artigo em Inglês | WPRIM | ID: wpr-1042837

RESUMO

5´-Adenosine monophosphate (AMP)-activated protein kinase (AMPK), a cellular energy sensor, is an essential enzyme that helps cells maintain stable energy levels during metabolic stress. The hypothalamus is pivotal in regulating energy balance within the body. Certain neurons in the hypothalamus are sensitive to fluctuations in food availability and energy stores, triggering adaptive responses to preserve systemic energy equilibrium. AMPK, expressed in these hypothalamic neurons, is instrumental in these regulatory processes. Hypothalamic AMPK activity is modulated by key metabolic hormones. Anorexigenic hormones, including leptin, insulin, and glucagon-like peptide 1, suppress hypothalamic AMPK activity, whereas the hunger hormone ghrelin activates it. These hormonal influences on hypothalamic AMPK activity are central to their roles in controlling food consumption and energy expenditure. Additionally, hypothalamic AMPK activity responds to variations in glucose concentrations. It becomes active during hypoglycemia but is deactivated when glucose is introduced directly into the hypothalamus. These shifts in AMPK activity within hypothalamic neurons are critical for maintaining glucose balance. Considering the vital function of hypothalamic AMPK in the regulation of overall energy and glucose balance, developing chemical agents that target the hypothalamus to modulate AMPK activity presents a promising therapeutic approach for metabolic conditions such as obesity and type 2 diabetes mellitus.

11.
Gut and Liver ; : 275-282, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1042942

RESUMO

Background/Aims@#Although guidelines exist regarding the evaluation and management of patients with chronic constipation (CC), little is known about real-world clinical practice patterns. This study aimed to evaluate the various practices used to manage CC patients in various clinical settings in South Korea. @*Methods@#A nationwide web-based survey was conducted, randomly selecting gastroenterologists and non-gastroenterologists. The 25-item questionnaire included physicians’ perceptions and practices regarding the available options for diagnosing and managing CC patients in Korea. @*Results@#The study participants comprised 193 physicians (86 gastroenterologists, 44.6%) involved in the clinical management of CC patients. The mean clinical experience was 12 years. Only 21 of 193 respondents (10.9%) used the Rome criteria when diagnosing CC. The Bristol Stool Form Scale was used by 29% of the respondents (56/193), while the digital rectal examination was performed by 11.9% of the respondents (23/193). Laboratory testing and colonoscopies were performed more frequently by gastroenterologists than by non-gastroenterologists (both p=0.001). Physiologic testing was used more frequently by gastroenterologists (p=0.046), phy-sicians at teaching hospitals, and physicians with clinical experience ≤10 years (both p<0.05). There were also significant differences in the preference for laxatives depending on the type of hospital. @*Conclusions@#There were discrepancies in the diagnosis and management of CC patients depending on the clinical setting. The utilization rates of the Bristol Stool Form Scale and digital rectal examination by physicians are low in real-world clinical practice. These results imply the need for better and more practical training of physicians in the assessment and management of CC.

12.
Immune Network ; : e20-2024.
Artigo em Inglês | WPRIM | ID: wpr-1043030

RESUMO

The brain and lungs, vital organs in the body, play essential roles in maintaining overall wellbeing and survival. These organs interact through complex and sophisticated bi-directional pathways known as the 'lung–brain axis', facilitated by their close proximity and neural connections. Numerous studies have underscored the mediation of the lung-brain axis by inflammatory responses and hypoxia-induced damage, which are pivotal to the progression of both pulmonary and neurological diseases. This review aims to delve into how pulmonary diseases, including acute/chronic airway diseases and pulmonary conditions, can instigate neurological disorders such as stroke, Alzheimer’s disease, and Parkinson's disease.Additionally, we highlight the emerging research on the lung microbiome which, drawing parallels between the gut and lungs in terms of microbiome contents, may play a significant role in modulating brain health. Ultimately, this review paves the way for exciting avenues of future research and therapeutics in addressing respiratory and neurological diseases.

13.
Artigo em Inglês | WPRIM | ID: wpr-1043056

RESUMO

This report presents guidelines for the systematic management of packaging, storage, transportation, and traceability of source cells used for organoid research. Given the important role of source cells in organoid studies, it is important to ensure the preservation of their quality and integrity throughout transportation and distribution processes. The proposed guidelines, therefore, call for a cohesive strategy through these stages to minimize the risks of contamination, deterioration, and loss–threats that significantly compromise the safety, efficacy, and efficiency of source cells. Central to these guidelines is the quality control measures that include roles and responsibilities across the entire supply chain, with recommendations specific to packaging materials, transportation facilities, and storage management. Furthermore, the need for an integrated management system is emphasized, spanning from source cell collection to the final application. This system is crucial for maintaining the traceability and accountability of source cells, facilitating the sharing, distribution, and utilization on a global scale, and supporting to advance organoid research and development.

14.
Artigo em Inglês | WPRIM | ID: wpr-1043057

RESUMO

An organoid is a self-organized three-dimensional structure derived from stem cells that mimics the structure, cell composition, and functional characteristics of specific organs and tissues and is used for evaluating the safety and effectiveness of drugs and the toxicity of industrial chemicals. Organoid technology is a new methodology that could replace testing on animals testing and accelerate development of precision and regenerative medicine. However, large variations in production can occur between laboratories with low reproducibility of the production process and no internationally agreed standards for quality evaluation factors at endpoints. To overcome these barriers that hinder the regulatory acceptance and commercialization of organoids, Korea established the Organoid Standards Initiative in September 2023 with various stakeholders, including industry, academia, regulatory agencies, and standard development experts, through public and private partnerships. This developed general guidelines for organoid manufacturing and quality evaluation and for quality evaluation guidelines for organoid-specific manufacturing for the liver, intestines, and heart through extensive evidence analysis and consensus among experts. This report is based on the common standard guideline v1.0, which is a general organoid manufacturing and quality evaluation to promote the practical use of organoids. This guideline does not focus on specific organoids or specific contexts of use but provides guidance to organoid makers and users on materials, procedures, and essential quality assessment methods at end points that are essential for organoid production applicable at the current technology level.

15.
Artigo em Inglês | WPRIM | ID: wpr-1043138

RESUMO

Purpose@#Although previous studies have found an association between brain iron levels and brain function, few have explored this relationship in children with autism spectrum disorder (ASD). Thus, we aimed to determine the association between quantitative susceptibility mapping (QSM)-derived magnetic susceptibility values (MSVs) and brain function in children with ASD. @*Materials and Methods@#The study included children with ASD who underwent both a brain magnetic resonance imaging with QSM and the Wechsler intelligence scale for children intelligence quotient (IQ) test. Select subcortical brain regions (caudate, putamen, globus pallidus, and thalamus; both right and left) were automatically segmented, and the MSVs were extracted from the QSM. The IQ score parameters (verbal comprehension, working memory, perceptual organization, and processing speed indices, and full-scale IQ) were measured. Correlation analysis was used to assess the association between age and IQ test parameters and between age and MSV. Linear regression analysis was performed to measure the relationship between the MSV and IQ test parameters. @*Results@#A total of 23 children with ASD (median age [interquartile range]: 10 [8–14] years; 12 males) were included. Age was not correlated with any of the IQ test parameters (p > 0.05). There was a significant correlation between age and right-thalamus MSV (r = 0.443, p = 0.03); however, no such correlation was found with the MSVs of other regions (p > 0.05). Among the IQ test parameters, the verbal comprehension index significantly correlated with the left-caudate MSV (r = 0.420, p = 0.046) and the perceptual organization index significantly correlated with the right-globus-pallidus MSV (r = 0.414, p = 0.049). @*Conclusion@#Select subcortical MSVs were associated with IQ test parameters in children with ASD, suggesting that QSM is a potential neurodevelopmental marker.

16.
Artigo em Inglês | WPRIM | ID: wpr-1043166

RESUMO

Background@#Vertebroplasty (VP) and balloon kyphoplasty (KP) are effective means with which to improve pain and function in osteoporotic vertebral compression fractures. However, the risk of complications after these procedures is poorly understood, with concerns regarding adjacent vertebral fractures. This study retrospectively investigated the clinical and radiological outcomes of these procedures. @*Methods@#A total of 115 patients who experienced their first vertebral fracture were treated with VP (N=63) or KP (N=52) at the Dankook University Hospital between January 2013 and December 2022. The clinical outcomes were evaluated using the visual analog scale (VAS) preoperative and at 1-year follow-up. Radiological comparisons were performed for kyphosis correction, vertebral height restoration, and postoperative cement leakage. @*Results@#KP was more effective than VP, especially for vertebral body height restoration and kyphotic angle reduction (P0.05). @*Conclusions@#Considering that KP was performed on fractures with severe deformity, no differences were observed in the clinical outcomes and incidence of adjacent vertebral fractures compared Considering that KP was performed for fractures with severe deformity, there was no difference in clinical outcomes and incidence of adjacent vertebral fractures compared to VP. Improvements in radiological measurements were demonstrated. Therefore, KP may be a good treatment option for pain relief and long-term prognosis in patients with high-compressive-rate vertebral fractures.

17.
Artigo em Inglês | WPRIM | ID: wpr-1043226

RESUMO

Objective@#To review the characteristics of distal middle cerebral artery (MCA) aneurysm treated by microsurgery, the detailed surgical options, and the clinical result. @*Methods@#We retrospectively reviewed cerebral aneurysm in the M2 and M3 segments of the MCA surgically treated between January 2015 and December 2022. The demographic data, aneurysm-related findings, type of surgical approach, surgical technique, and clinical outcomes of the enrolled patients were analyzed. @*Results@#Sixteen distal MCA aneurysms were treated with microneurosurgery (incidence, 1.0%; female, 12; mean age, 58.1 years; ruptured, three). Twelve aneurysms were in the M2 segment (insular segment), two aneurysms at the M2–M3 junction, and two aneurysms in the M3 segment (opercular segment). Twelve aneurysms were saccular (average size, 4.9 mm; multiplicity, 50%; average aneurysms, 3.0; partially thrombosed, 1; sidewall aneurysm, 2). Three aneurysms were fusiform, of which two were ruptured. Of the ruptured aneurysms, one was a ruptured dissecting aneurysm. The trans-sylvian and trans-sulcal approaches were used in fourteen and two patients, respectively. Neck clipping, wrap clipping, and surgical trapping were performed in twelve, one, and one patient, respectively. Proximal occlusion was performed in one patient. Bypass technique was required in two patients (neck clipping and proximal occlusion). The modified Rankin Score was 6 in the two patients with ruptured aneurysms. The remaining patients did not show further neurological deterioration after microneurosurgery. @*Conclusions@#Distal MCA aneurysms had a high incidence of being diagnosed with multiple other aneurysms and were relatively non-saccular.

18.
Artigo em Inglês | WPRIM | ID: wpr-1043278

RESUMO

Background@#and Purpose The association between physical activity and dementia has been shown in various observational studies. We aimed to determine the risk of dementia in the elderly with lower-body fractures. @*Methods@#We reconstructed a population-based matched cohort from the National Health Insurance Service—Senior Cohort data set that covers 511,953 recipients of medical insurance in South Korea. @*Results@#Overall 53,776 subjects with lower-body fractures were identified during 2006–2012, and triplicate control groups were matched randomly by sex, age, and years from the index date for each subject with a fracture. There were 3,573 subjects (6.6%) with and 7,987 subjects (4.9%) without lower-body fractures who developed dementia from 2008 up to 2015. Lowerbody fractures were independently associated with a subsequent dementia diagnosis with a higher adjusted hazard ratio (aHR) (1.55, 95% confidence interval [CI]=1.49–1.62) compared with upper-body fractures (aHR=1.19, 95% CI=1.14–1.23). @*Conclusions@#These results support the protective role of physical activity against dementia and highlight the importance of promoting fracture prevention in the elderly.

19.
Artigo em Inglês | WPRIM | ID: wpr-1043343

RESUMO

Purpose@#Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Mutation detection is complex owing to the large size of the NF1 gene, the presence of a high number of partial pseudogenes, and the great variety of mutations. We aimed to study the mutation spectrum of NF1 gene in Korean patients with NF1. @*Materials and Methods@#We have analyzed total 69 unrelated patients who were clinically diagnosed with NF1. PCR and sequencing of the NF1 gene was performed in all unrelated index patients. Additionally, multiplex ligation-dependent probe amplification (MLPA) test of the NF1 and SPRED1 gene analysis (sequencing and MLPA test) were performed in patients with negative results from NF1 gene sequencing analysis. @*Results@#Fifty-five different variants were identified in 60 individuals, including six novel variants. The mutations included 36 single base substitutions (15 missense and 21 nonsense), eight splicing mutations, 13 small insertion or deletions, and three gross deletions. Most pathogenic variants were unique. The mutations were evenly distributed across exon one through 58 of NF1, and no mutational hot spots were found. When fulfilling the National Institutes of Health criterion for the clinical diagnosis of NF1, the detection rate was 84.1%. Cafe-au-lait macules were observed in all patients with NF1 mutations. There is no clear relationship between specific mutations and clinical features. @*Conclusion@#This study revealed a wide spectrum and genetic basis of patients with NF1 in Korea. Our results aim to contribute genetic management and counseling.

20.
Artigo em Inglês | WPRIM | ID: wpr-1043371

RESUMO

Purpose@#This study aimed to examine the adequacy of current nurse staffing levels by identifying nursing activities and workload. @*Methods@#The study used a mixed-method design. A nursing activity survey was conducted using the work sampling method over 2 working days with 119 general ward nurses. A focus group interview was conducted with 12 nurses. Quantitative and qualitative data were analyzed using SPSS 20.0 and content analysis, respectively. @*Results@#The most amount of time was spent on medication (in direct nursing) and electronic medical record documentation (in indirect nursing). The appropriate nurse-to-patient ratio is 1:7.7 for the day shift, 1:9.0 for the evening shift, and 1:11.9 for the night shift. However, the current nurse-to-patient ratio is 1:9.4, 1:11.0, and 1:13.8 for the day, evening, and night shifts, respectively. Therefore, the current nurse staffing level is insufficient for the workload. In the focus group interview, the main reasons cited for being unable to complete tasks within working hours were communication and coordination, and the nursing electronic medical record. The essential nursing activities of basic nursing and emotional support were overlooked owing to a heavy workload. Therefore, an adequate nurse staffing level should be higher than the measured quantitative workload. @*Conclusion@#These results suggest the general wards of tertiary hospitals should evaluate the adequacy of their current nurse staffing and allocate sufficient nurses to improve patient safety and nursing care quality.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA