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Low serum progranulin (PGRN) is known to be associated with granulin ( GRN ) gene mutation and T alleles of GRN rs5848 polymorphism. However, there have been only a few Asian studies exploring these. We investigated the serum PGRN levels, rs5848 genotypes, and their relations with cerebrospinal fluid (CSF) Alzheimer’s disease (AD) biomarkers in the Korean population. Serum PGRN levels, GRN rs5848 polymorphism, and GRN mutations were evaluated in 239 participants (22 cognitively unimpaired participants and 217 patients with neurodegenerative diseases). CSF AD biomarkers were also evaluated in 214 participants. There was no significant difference in the serum PGRN levels among the diagnostic groups. We could not find any GRN mutation carrier in our sample. The differences in the frequencies of the rs5848 genotypes among the clinical groups or the effects of the rs5848 genotypes on serum PGRN were not observed. There was no correlation between the serum PGRN level or rs5848 genotype and CSF AD biomarkers. Neither the T allele nor the TT genotype had an effect on the development of AD. Our results showed that serum PGRN levels were not associated with rs5848 genotypes, indicating that multiple single nucleotide polymorphisms might affect PGRN concentrations in an ethnicity-specific manner.

Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. EAAT1 regulates the extent and durations of glutamate-mediated signal by the clearance of glutamate after synaptic release. In addition, EAAT1 also has an anion channel activity that prevents additional glutamate release. We identified a missense mutation in SLC1A3 in a family with EA. The proband exhibited typical EA2-like symptoms such as recurrent ataxia, slurred speech with a duration of several hours, interictal nystagmus and response to acetazolamide, but had late-onset age of sixth decade. Whole-exome sequencing detected a heterozygous c.1177G>A mutation in SLC1A3. This mutation predicted a substitution of isoleucine for a highly conserved valine residue in the seventh transmembrane domain of EAAT1. The mutation was not present in 100 controls, a large panel of in-house genome data and various mutation databases. Most functional prediction scores revealed to be deleterious. Same heterozygous mutation was identified in one clinically affected family member and two asymptomatic members. Our data expand the mutation spectrum of SLC1A3 and the clinical phenotype of EA6.

Purpose The purpose of this study is to test the visual superiority effect in a verisimilar scenario that an industry association seeks to manipulate consumers using a visual element in its ad while providing an ostensibly balanced claim about the potential health effects of stevia. Design/methodology/approach Two experiments were conducted. In Study 1, an online experiment was conducted with a sample of 112 adult consumers using a two-group (headline frame type: gain vs loss), post-test only design with additional planned analysis of an individual difference (i.e. regulatory focus). In Study 2, another online experiment was implemented with a sample of 175 adults using a 2 (headline frame type: gain vs loss) × 2 (image valence: positive vs negative) between-subjects design with additional planned analysis of regulatory focus. The hypotheses were tested by running the PROCESS macro on SPSS. Findings The results showed that when exposed to the advertising message designed to elicit uncertainty, participants relied more on the visual than the textual content (i.e. framed headline and body text) in forming attitude toward the behavior (i.e. consuming stevia). Analysis of cognitive responses also revealed that those who received the stimulus ad with an image added (Study 2) generated significantly fewer thoughts related to the textual content of the ad than those who received the ad with no image (Study 1). Originality/value This study represents one of the earliest experimental inquiries into the visual superiority effect in an advertising context. While earlier studies have tended to rely on dual-processing models to test the effects of advertising stimuli featuring both textual and visual elements, the findings of this study (e.g. visual content overwhelmed its textual counterpart in producing persuasive effects) somewhat contradict the premise of dual-processing models.

IntroductionDespite previous attempts to identify types of social support among postpartum mothers, researchers have overlooked how and why postpartum mothers seek and offer social support as well as the dynamics of participation in online communities.Objective and MethodsThe objective of the current study was to explore possible answers through grounded theory approach of interviews with 24 mothers who have experienced postpartum depression and psychological distress.ResultsThe primary motivation to join the community was a desire for connectedness and reassurance. Initially engaged to seek information, users began to share not only informational and tangible support, but also emotional and esteem support as they gained comfort with their membership in these groups.ConclusionFindings suggest that affirming normalcy while coping with postpartum distress is an integral part of the social support shared among postpartum mothers. Moreover, the findings indicated that to maximize the sustainability as well as the effectiveness of online communities for postpartum mothers, motivating silent users to participate and reciprocate is crucial.SignificanceWhat is already known Many postpartum mothers have joined online communities to exchange information and social support with fellow moms in the group. Previous studies have found various motivations for postpartum moms joining online communities and what types of social support they share. However, what motivates postpartum mothers to get involved, stay in or leave online communities based on level of satisfaction with those communities remains unclear.What this study can add to the literature Two major motivations among postpartum mothers to join online social support groups were a need to communicate to end their sense of isolation and a desire to gather information from experienced people. After gaining a sense of group reliability, they began posting to seek and provide support. Through experiencing and observing the exchange of support within the community, postpartum mothers felt more attached to the group. They also developed the need to reciprocate support through empathy based on their development of in-group identity. In addition, the motivation to reciprocate stemmed from enhanced confidence in their own knowledge of postpartum symptoms.

Purpose To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods Twenty-three patients with prepubertal NS treated at Pusan National University Children’s Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy. Results The mean chronological age at the start of GH treatment was 5.85±2.67 years. At the beginning of the GH treatment, the height standard deviation score (SDS), growth velocity (GV), and lower levels of insulin-like growth factor-1 (IGF)-1 levels were not statistically different among the groups. All the 23 NS patients had significantly increased height SDS and serum IGF-1 level during the 3 years of treatment. GV was highest during the first year of treatment. During the 3 years of GH therapy, the PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, and GV, and less increase in bone age-to-chronological age ratio than the FGU group. Conclusion The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. The FGU group showed a better response to recombinant human GH therapy than the PTPN11, RAF1, and SOS1 groups.

The number of patients on home mechanical ventilation (HMV) worldwide has been steadily rising as medical technological advanced. To ensure the safety and quality care of the patients receiving HMV with tracheostomy, caring behavior of family caregivers is critical. However, studies on caring behavior of family caregivers and its associated factors were remained unexplored. This study aimed to describe the caring behaviors of family caregivers for patients receiving home mechanical ventilation with tracheostomy and to identify factors associated with their caring behaviors. This was a cross-sectional study for 95 family caregivers for patients with invasive home mechanical ventilation in South Korea. Caring behaviors were assessed by the Caring Behavior Scale with 74 items with 5-point Likert scale. Data were analyzed using multiple regression analysis. Caring behaviors score of caregivers was 304.68±31.05 out of 370. They were significantly associated with knowledge on emergency care ([beta] = 0.22, p = .011), number of required instruments for care ([beta] = 0.21, p = .010), frequency of home visit care ([beta] = 0.19, p = .017), experience of emergency situation for the last six months ([beta] = 0.19, p = .009) and activities of daily living of patient ([beta] = 0.27, p = .002). Development of standardized multidisciplinary discharge education for improving the caring capacity of caregivers is required for successful and healthy application of home mechanical ventilation.

Objective: The aim of this study was to investigate the prevalence and causes of early discontinuation and non-adherence to upfront and extended adjuvant letrozole therapy in breast cancer patients. Methods: Adherence was assessed using medical charts and longitudinal pharmacy records of 609 patients who initiated adjuvant letrozole between January 2002 and April 2011. A Cox proportional hazards regression model was adopted to identify potential predictors of non-adherence. Results: The overall adherence rate after 1 year of therapy was 79.5%, with cumulative rates declining to 63.7% after 3 years and 57.1% after 5 years. A significantly lower rate of adherence in the extended adjuvant group was observed compared with the upfront adjuvant group (49.0 vs. 72.5%, p < 0.001). Adverse events (50.4%) were the major cause of early discontinuation, with musculoskeletal pain (73.2%) being the single most cited reason. Additional factors correlating with non-adherence in the upfront adjuvant group included a delay in initiation of adjuvant hormone therapy, breast-conserving surgery, calcium supplements, bisphosphonate therapy and concomitant medication for co-morbidity. Conclusions: We observed that approximately 57% of patients fully adhered to letrozole therapy over a 5-year treatment period, and that the adherence to extended letrozole was meaningfully lower than the upfront adjuvant letrozole in a clinical practice setting.

Episodic ataxia (EA) is a rare neurological condition characterized by recurrent spells of truncal ataxia and incoordination. Five genes ( KCNA1 , CACNA1A , CACNB4 , SLC1A3 , and UBR4 ) have been linked to EA. Despite extensive efforts to genetically diagnose EA, many patients remain still undiagnosed. Whole-exome sequencing was carried out in 39 Korean patients with EA to identify pathogenic mutations of the five known EA genes. We also evaluated 40 candidate genes that cause EA as a secondary phenotype or cerebellar ataxia. Eighteen patients (46%) revealed genetic information useful for establishing a molecular diagnosis of EA. In 11 patients, 16 pathogenic mutations were detected in three EA genes. These included nine mutations in CACNA1A , three in SLC1A3 , and four in UBR4 . Three patients had mutations in two genes, either CACNA1A and SLC1A3 or CACNA1A and UBR4 , suggesting that SLC1A3 and UBR4 may act as genetic modifiers with synergic effects on the abnormal presynaptic activity caused by CACNA1A mutations. In seven patients with negative results for screening of EA genes, potential pathogenic mutations were identified in the candidate genes ATP1A2 , SCN1A , TTBK2 , TGM6 , FGF14 , and KCND3 . This study demonstrates the genetic heterogeneity of Korean EA, and indicates that whole-exome sequencing may be useful for molecular genetic diagnosis of EA.

Particulate matter (PM) is a major environmental pollutant implicated in various respiratory diseases. However, its impact on the upper respiratory tract, particularly the nasal and paranasal sinus mucosa, remains poorly understood. This study aimed to investigate the acute inflammatory effects of PM exposure on the sinonasal mucosa and evaluate the natural recovery process in a controlled rat model. Ten-week-old male Sprague Dawley rats were exposed to incense-derived PM in a custom-designed exposure chamber for 2 h daily for seven consecutive days. Rats were sacrificed at 3, 7, and 14 days post-exposure. Histopathologic changes were assessed using hematoxylin and eosin and Alcian blue staining, and mucosal gene expression of inflammatory cytokines including interleukin (IL)-1β, IL-6, tumor necrosis factor (TNF)-α, interferon (IFN)-γ, and IL-5 and MUC5AC was quantified using real-time reverse transcription polymerase chain reaction. PM exposure induced significant histological alterations, including epithelial thickening, inflammatory cell infiltration, and goblet cell hyperplasia, which peaked at 7 days post-exposure. Expression levels of TNF-α and IFN-γ were significantly elevated at 7 days compared to controls. The sinonasal mucosa in the 14-day post-exposure groups exhibited a remarkable decrease in goblet cell numbers, and IL-1β and TNF-α expression. Short-term exposure to high concentrations of PM resulted in acute inflammatory changes in the sinonasal mucosa of rats, including epithelial thickening and goblet cell hyperplasia. These changes were partially resolved after exposure ended, indicating that PM-induced sinonasal inflammation may be at least partially reversible.

Objective Lidocaine is an amide local anaesthetic commonly used for pain control, however, few studies have investigated the effect of lidocaine on the osteogenic differentiation of human dental pulp stem cells (HDPSCs). The present study aimed to determine the effect of lidocaine on HDPSC viability and osteogenic differentiation. Methods HDPSCs were incubated with 0, 0.05, 0.2, 0.5, and 1 mM lidocaine for 24, 48 and 72 h, after which, MTT assays were performed. HDPSCs cultured with the above lidocaine concentrations and osteogenic differentiation medium for 7 and 14 days were stained for alkaline phosphatase (ALP). Protein and mRNA levels of relevant osteogenic factors (bone morphogenetic protein-2 [BMP-2] and runt-related transcription factor 2 [RUNX2]) were examined using western blotting and real-time reverse-transcription polymerase chain reaction, respectively. Results Lidocaine did not affect the viability of HDPSCs, however, lidocaine reduced ALP activity in HDPSCs. Levels of ALP, BMP-2, and RUNX2 mRNA were reduced with lidocaine, and levels of BMP-2 and RUNX2 proteins were decreased, versus controls. Conclusions Lidocaine inhibits osteogenic differentiation markers in HDPSCs in vitro, even at low concentrations, without cytotoxicity. This study suggests that lidocaine may inhibit osteogenic differentiation in HDPSC-mediated regenerative medicine, including pulp regeneration and repair.