Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 111
Filter
1.
Med Care ; 2024 May 20.
Article in English | MEDLINE | ID: mdl-38775677

ABSTRACT

BACKGROUND: Youth comprise one-third of the US homeless population. However, little is known about how homelessness affects health care utilization. OBJECTIVE: Examine associations of homelessness with hospitalization, primary care, and ED visits, varying by race/ethnicity, among Medicaid-enrolled youth. RESEARCH DESIGN: A cross-sectional analysis was conducted using California Medicaid claims data on youth beneficiaries with complex needs. We examined the number of hospitalizations, preventable and nonpreventable ED, and primary care visits using a multivariate regression. We further explored the differential associations by race/ethnicity. RESULTS: Approximately 17% of our sampled youth experienced homelessness in 2018 (N=90,202). Compared with their housed counterparts, youth experiencing homelessness had a 1.9 percentage point (pp) higher likelihood of frequent ED visits (95% CI: 1.7-2.2) but a 2.9 pp lower probability of any primary care visits (95% CI: -3.9 to -1.9). Homelessness was associated with 221 more ED visits (95% CI: 182-260), 100 more preventable ED visits (95% CI: 84-116), 19.9 more hospitalizations (95% CI: 12-27), but 56 fewer primary care visits (95% CI: -104 to -7), per 1000 youth. The associations of homelessness with total ED visits, preventable ED visits, and needed and nonpreventable ED visits were all higher among Whites and, particularly, Blacks than for Hispanics and Asians. CONCLUSIONS: Medicaid-enrolled youth who experienced homelessness had more overall ED, preventable ED, and hospital visits, but fewer primary care visits than their housed peers. Our results suggest promoting primary care use should be considered among strategies to improve health and reduce costs.

2.
Front Public Health ; 12: 1361998, 2024.
Article in English | MEDLINE | ID: mdl-38706543

ABSTRACT

Introduction: The exploration of the relationship between parental and child happiness, particularly in the context of shared childcare responsibilities, has not been examined in Korean families. Methods: Using a two-wave longitudinal design and data from 1,403 families from the Panel Study on Korean Children, this study employed the actor-partner interdependence model to examine the dynamics of childcare sharing between mothers and fathers in South Korea. Results: Mothers' childcare sharing was found to have no significant impact on their own and their partner's happiness, reflecting traditional gender norms that undervalue mothers' contributions. In contrast, fathers' childcare sharing had a positive impact on their own and their spouse's happiness, suggesting a growing recognition of fathers' involvement. Furthermore, fathers' active participation in childcare was found to promote their children's happiness through their own happiness. Discussion: This study reflects the complexity of evolving family roles and the covert persistence of traditional gender roles in modern Korean parenting. It suggests the importance of work and family policies that support changes in family dynamics by providing a more nuanced understanding of how changing family roles and responsibilities can enhance overall family well-being.


Subject(s)
Child Care , Happiness , Humans , Republic of Korea , Male , Female , Longitudinal Studies , Child Care/psychology , Adult , Child , Child, Preschool , Parenting/psychology , Parent-Child Relations , Parents/psychology
3.
Mol Diagn Ther ; 28(3): 311-318, 2024 May.
Article in English | MEDLINE | ID: mdl-38568469

ABSTRACT

INTRODUCTION: Erythrocytosis is attributed to various clinical and molecular factors. Many cases of JAK2-unmutated erythrocytosis remain undiagnosed. We investigated the characteristics and causes of JAK2-unmutated erythrocytosis. METHODS: We assessed the clinical and laboratory results of patients with erythrocytosis without JAK2 mutations and performed targeted next-generation sequencing (NGS) panels for somatic and germline mutations. RESULTS: In total, 117 patients with JAK2-unmutated erythrocytosis were included. The median hemoglobin and hematocrit levels were 17.9 g/dL and 53.4%, respectively. Erythropoietin levels were not below the reference range. Thrombotic events were reported in 17 patients (14.5%). Among JAK2-unmutated patients, 44 had undergone targeted panel sequencing consisting of myeloid neoplasm-related genes, and 16 had one or more reportable variants in ASXL1 (5/44), TET2, CALR, FLT3, and SH2B3 (2/44). Additional testing for germline causes revealed eight variants in seven genes in eight patients, including NF1, BPGM, EPAS1, PIEZO1, RHAG, SH2B3, and VHL genes. One NF1 pathogenic, one BPGM likely pathogenic, and six variants of undetermined significance were detected. CONCLUSION: Somatic and germline mutations were identified in 36.4% and 33.3 % of the JAK2-unmutated group; most variants had unknown clinical significance. Not all genetic causes have been identified; comprehensive diagnostic approaches are crucial for identifying the cause of erythrocytosis.


Subject(s)
High-Throughput Nucleotide Sequencing , Janus Kinase 2 , Mutation , Polycythemia , Humans , Polycythemia/genetics , Polycythemia/diagnosis , Janus Kinase 2/genetics , Female , Male , Middle Aged , Adult , Aged , Germ-Line Mutation , Tertiary Care Centers , Young Adult , Aged, 80 and over , Adolescent , Genetic Predisposition to Disease
4.
Biosensors (Basel) ; 14(3)2024 Feb 29.
Article in English | MEDLINE | ID: mdl-38534236

ABSTRACT

Vancomycin (VAN) is an effective antibiotic against Gram-positive bacteria and the first-line therapy to prevent and treat methicillin-resistant Staphylococcus aureus (MRSA) and severe infections. However, low concentrations of VAN can result in resistant strains. High doses of VAN can cause nephrotoxicity and ototoxicity; thus, VAN is a representative drug for which drug monitoring is recommended. Several methods have been proposed to detect VAN. Among them, lateral flow immunoassays (LFIAs) have advantages, such as simple and user-friendly operation, low sample volume requirement, and cost effectiveness. In this study, we developed an LFIA capable of rapid on-site detection such that the VAN concentration in plasma could be monitored within 20 min by a one-step detection process using whole blood without plasma separation. VAN can be detected in whole blood over a wide range of concentrations (20-10,000 ng/mL), and the LFIA reported here has a detection limit of 18 ng/mL. The applicability of the developed LFIA compared to the results of measuring VAN with a commercial enzyme-linked immunosorbent assay kit showed a satisfactory correlation (Spearman's rho, ρ = 0.891). Therefore, the developed LFIA enables rapid and wide-range VAN detection in whole blood and can aid in drug monitoring to evaluate patients' responses to treatment.


Subject(s)
Methicillin-Resistant Staphylococcus aureus , Vancomycin , Humans , Vancomycin/pharmacology , Anti-Bacterial Agents/pharmacology , Immunoassay/methods , Enzyme-Linked Immunosorbent Assay
5.
Heliyon ; 10(6): e27770, 2024 Mar 30.
Article in English | MEDLINE | ID: mdl-38500981

ABSTRACT

Objective: This study aimed to assess the treatment compliance, patterns, healthcare resource utilization (HCRU), and costs of anti-epilepsy drugs (AEDs) as the first add-on therapy in patients with epilepsy. Methods: We conducted a retrospective population-based cohort study using Korean National Health Insurance claims data from 2016 to 2020. Patients with epilepsy who newly received AED add-on therapy were identified and followed for up to 12 months to evaluate persistence, adherence, treatment patterns, HCRU, and costs. Results: Among 6,746 patients who initiated AED add-on therapy, 65.5% were persistent on their index AED add-on from the index date until the end of the follow-up period, and the mean persistent time on the index add-on was 307.3 ± 92.3 days. A total of 76.8% patients were adherent, with a medication possession ratio (MPR) ≥80%, and the mean MPR was 88.9 ± 25.4%. Persistence and adherence to the index AED add-on were relatively higher among patients prescribed lamotrigine, levetiracetam, oxcarbazepine, and perampanel than those prescribed carbamazepine, topiramate, or valproate. A total of 41.0% of the patients changed their index AED add-on during the follow-up period. The carbamazepine, topiramate, and valproate groups had higher rates of change than the other AED groups. HCRU and costs tended to be lower in the lamotrigine, levetiracetam, oxcarbazepine, and perampanel groups. Furthermore, perampanel showed the lowest HCRU and costs for all-cause cases as well as the lowest length of stay and outpatient visits for epilepsy-related cases. Conclusion: In this population-based study, the use of lamotrigine, levetiracetam, oxcarbazepine, or perampanel as the first add-on therapy in patients with epilepsy contributed to better treatment compliance and lower HCRU and costs than that of carbamazepine, topiramate, or valproate.

6.
J Exp Psychol Gen ; 153(3): 608-620, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38059961

ABSTRACT

Children pay a cost to punish third parties for unfairness. However, theoretical debates highlight that such behaviors could reflect a strategic attempt to manipulate others in future interactions. The personal deterrence hypothesis claims that punishment is motivated to deter future unfairness toward punishers. Here we tested this hypothesis with a total of n = 248 five- to 10-year-olds. In two experiments, participants witnessed that a divider shared resources either fairly or selfishly with a third party. Participants learned that the same divider (same divider condition) or a new divider (different divider condition) would subsequently decide how to share resources with the participant. If children's punishment is motivated by personal deterrence, they should punish unfairness more often in the same divider condition (vs. different divider). Conversely, if children fear retaliation from dividers, they should punish dividers less often in the same divider condition (vs. different divider). Children intervened by taking resources away from the divider (Experiment 1) or by sending a disapproving or an approving verbal message (Experiment 2). Children were more likely to punish unfair than fair allocations through material punishment and disapproving messages, while being more likely to reward fair than unfair allocations by sending approving messages. However, children did so at the same level regardless of their future divider's identity. We discuss how these results speak to a children's emerging concern with fairness and how it challenges the notion that children punish for self-oriented reasons as suggested by the personal deterrence hypothesis. (PsycInfo Database Record (c) 2024 APA, all rights reserved).


Subject(s)
Punishment , Social Behavior , Child , Humans , Child Behavior , Reward , Fear
7.
Food Funct ; 15(2): 647-662, 2024 Jan 22.
Article in English | MEDLINE | ID: mdl-38099933

ABSTRACT

This study evaluated the effects of formulations with Lacticaseibacillus paracasei BEPC22 and Lactiplantibacillus plantarum BELP53 on adiposity, the alteration of microbiota, and the metabolome in high-fat diet-fed mice. The strains were selected based on their fat and glucose absorption inhibitory activities and potential metabolic interactions. The optimal ratio of the two strains in the probiotic formulation was determined based on their adipocyte differentiation inhibitory activities. Treatment of formulations with BEPC22 and BELP53 for 10 weeks decreased body weight gain at 6 weeks; it also decreased the food efficiency ratio, white adipose tissue volume, and adipocyte size. Moreover, it decreased the expression of the lipogenic gene Ppar-γ in the liver, while significantly increasing the expression of the fat oxidation gene Ppar-α in the white adipose tissue. Notably, treatment with a combination of the two strains significantly reduced the plasma levels of the obesity hormone leptin and altered the microbiota and metabolome. The omics data also indicated the alteration of anti-obesity microbes and metabolites such as Akkermansia and indolelactic acid, respectively. These findings suggest that treatment with a combination of BEPC22 and BELP53 exerts synergistic beneficial effects against obesity.


Subject(s)
Gastrointestinal Microbiome , Lacticaseibacillus paracasei , Animals , Mice , Diet, High-Fat/adverse effects , Peroxisome Proliferator-Activated Receptors/metabolism , Obesity/genetics , Metabolome , Mice, Inbred C57BL
8.
Cell Rep ; 42(10): 113239, 2023 10 31.
Article in English | MEDLINE | ID: mdl-37819757

ABSTRACT

Dopamine synapses play a crucial role in volitional movement and reward-related behaviors, while dysfunction of dopamine synapses causes various psychiatric and neurological disorders. Despite this significance, the true biological nature of dopamine synapses remains poorly understood. Here, we show that dopamine transmission is strongly correlated with GABA co-transmission across the brain and dopamine synapses are structured and function like GABAergic synapses with marked regional heterogeneity. In addition, GABAergic-like dopamine synapses are clustered on the dendrites, and GABA transmission at dopamine synapses has distinct physiological properties. Interestingly, the knockdown of neuroligin-2, a key postsynaptic protein at GABAergic synapses, unexpectedly does not weaken GABA co-transmission but instead facilitates it at dopamine synapses in the striatal neurons. More importantly, the attenuation of GABA co-transmission precedes deficits in dopaminergic transmission in animal models of Parkinson's disease. Our findings reveal the spatial and functional nature of GABAergic-like dopamine synapses in health and disease.


Subject(s)
Brain , Dopamine , Animals , Dopamine/metabolism , Brain/metabolism , Synapses/metabolism , Neurons/metabolism , gamma-Aminobutyric Acid/metabolism , Receptors, GABA-A/metabolism
9.
World J Clin Cases ; 11(26): 6194-6199, 2023 Sep 16.
Article in English | MEDLINE | ID: mdl-37731566

ABSTRACT

BACKGROUND: Since fat does not transmit electrical energy well, delayed perforation and post-polypectomy syndrome due to electrical thermal injury are concerns in the endoscopic removal of colonic lipoma. The endoscopic submucosal dissection (ESD) technique concentrates electrical energy conducts to the submucosa, not the adipose tissue. This helps to minimize electrical thermal injury, especially in the case of large colonic lipomas. In rare cases, such as colonic lipomas accompanied by mucosal lesions, it is difficult for endoscopists to decide how to safely remove them. CASE SUMMARY: A 78-year-old man underwent colonoscopy for colorectal cancer screening. During colonoscopy, a yellowish submucosal tumor with positive cushion sign was observed in the ascending colon measuring about 4.5 cm. A nodular mucosal lesion of about 2.5 cm was observed on the mucosal surface of the lipoma. The lipoma was so large that it occupied much of the inside of the colon, making it difficult to see the entire laterally spreading tumor (LST) at once. The LST was confined to the surface of the lipoma, which had a semipedunculated shape with a wide neck. The margin of the LST was not observed at the neck of the lipoma. ESD was performed and the colonic lipoma with the LST was successfully removed without complications. After 3 d of hospitalization, the patient was discharged without any symptoms. The final pathology report showed that the lesion consisted of submucosal lipoma and tubulovillous adenoma with low-grade dysplasia. CONCLUSION: ESD is effective and safe for treating a large colonic lipoma with an LST by minimizing electrical thermal injury.

10.
Front Psychol ; 14: 1185098, 2023.
Article in English | MEDLINE | ID: mdl-37476094

ABSTRACT

This study investigates the relationships between distinct bioecological profiles of individual, familial, and educational characteristics of preschool children and their school adjustment, academic performance, and executive function in first grade. Data on 11 indicators of personal and environmental characteristics were collected from 1,016 five-year-old Korean preschoolers using a national-level open dataset. Latent profile analysis identified five profiles that were associated with different levels of school adjustment, academic performance, and executive function one year later when the preschoolers became first graders. The "Good Social Competence by Good Familial Environment" profile was the most associated with levels of school adjustment, academic performance, and executive function. The "Good Social Competence by Good Educational Environment" profile was more associated with levels of school adjustment and executive function than the "Moderate" profile but less associated with these levels than the "Good Social Competence by Good Familial Environment" profile. Findings indicate that the environment, rather than individual characteristics of preschoolers, plays a more significant role in their elementary school adjustment, academic performance, and executive function, and that their familial environment plays a more significant role than their educational environment. The study highlights the importance of creating supportive familial environments for preschool children to improve their school adjustment, academic performance, and executive function in elementary school, and provides a useful guide for practitioners and policymakers seeking to improve children's academic and socioemotional outcomes.

11.
Clin Mol Hepatol ; 29(3): 733-746, 2023 07.
Article in English | MEDLINE | ID: mdl-37157775

ABSTRACT

BACKGROUND/AIMS: The microvascular invasion (MVI) of hepatocellular carcinoma (HCC) involves a wide histological spectrum, and it is unclear whether the degree of MVI correlates with patient prognosis or imaging findings. Here, we evaluate the prognostic value of MVI classification and analyze the radiologic features predictive of MVI. METHODS: Using a retrospective cohort of 506 patients with resected solitary HCCs, the histological and imaging features of MVI were reviewed and correlated with clinical data. RESULTS: MVI-positive HCCs invading ≥5 vessels or those with ≥50 invaded tumor cells were significantly associated with decreased overall survival (OS). The 5-year OS, recurrence-free survival (RFS), and beyond Milan criteria RFS rates were significantly poorer in patients with severe MVI compared with those with mild or no MVI. Severe MVI was a significant independent predictive factor for OS (odds ratio [OR], 2.962; p<0.001), RFS (OR, 1.638; p=0.002), and beyond Milan criteria RFS (OR, 2.797; p<0.001) on multivariable analysis. On MRI, non-smooth tumor margins (OR, 2.224; p=0.023) and satellite nodules (OR, 3.264; p<0.001) were independently associated with the severe-MVI group on multivariable analysis. Both non-smooth tumor margins and satellite nodules were associated with worse 5-year OS, RFS, and beyond Milan criteria RFS. CONCLUSION: Histologic risk classification of MVI according to the number of invaded microvessels and invading carcinoma cells was a valuable predictor of prognosis in HCC patients. Non-smooth tumor margin and satellite nodules were significantly associated with severe MVI and poor prognosis.


Subject(s)
Carcinoma, Hepatocellular , Liver Neoplasms , Humans , Carcinoma, Hepatocellular/diagnostic imaging , Liver Neoplasms/diagnostic imaging , Retrospective Studies , Neoplasm Invasiveness/pathology , Prognosis , Magnetic Resonance Imaging
12.
Pers Soc Psychol Bull ; : 1461672231160027, 2023 Apr 02.
Article in English | MEDLINE | ID: mdl-37005860

ABSTRACT

Laypeople often believe that God punishes transgressions; however, their inferences about God's punishment motives remain unclear. We addressed this topic by asking laypeople to indicate why God punishes. We also examined participants' inferences about why humans punish to contribute to scholarly conversations regarding the extent to which people may anthropomorphize God's mind. In Studies 1A to 1C, participants viewed God as less retributive than humans. In Study 2, participants expected God (vs. humans) to view humans' true selves more positively; this difference mediated participants' views of God as less retributive than humans. Study 3 manipulated agents' views of humans' true selves and examined how such information influenced each agent's perceived motives. Participants viewed a given agent as less retributive when that agent regarded the true self as good (versus bad). These findings extend scholarship on lay theories of punishment motives and highlight links between religious and moral cognition.

13.
Exp Neurobiol ; 32(1): 42-55, 2023 Feb 28.
Article in English | MEDLINE | ID: mdl-36919335

ABSTRACT

Amyloid precursor protein (APP) plays an important role in the pathogenesis of Alzheimer's disease (AD), but the normal function of APP at synapses is poorly understood. We and others have found that APP interacts with Reelin and that each protein is individually important for dendritic spine formation, which is associated with learning and memory, in vitro. However, whether Reelin acts through APP to modulate dendritic spine formation or synaptic function remains unknown. In the present study, we found that Reelin treatment significantly increased dendritic spine density and PSD-95 puncta number in primary hippocampal neurons. An examination of the molecular mechanisms by which Reelin regulates dendritic spinogenesis revealed that Reelin enhanced hippocampal dendritic spine formation in a Ras/ERK/CREB signaling-dependent manner. Interestingly, Reelin did not increase dendritic spine number in primary hippocampal neurons when APP expression was reduced or in vivo in APP knockout (KO) mice. Taken together, our data are the first to demonstrate that Reelin acts cooperatively with APP to modulate dendritic spine formation and suggest that normal APP function is critical for Reelin-mediated dendritic spinogenesis at synapses.

14.
PLoS One ; 18(3): e0280953, 2023.
Article in English | MEDLINE | ID: mdl-36893190

ABSTRACT

OBJECTIVES: To evaluate the influence of myoma characteristics on cesarean myomectomy and to demonstrate its additional advantages. METHODS: Retrospective data were collected from 292 women with myomas who had undergone cesarean section at Kangnam Sacred Heart Hospital between 2007 and 2019. We performed subgroup analysis according to the type, weight, number, and size of myomas. Preoperative and postoperative hemoglobin levels, operative time, estimated blood loss, length of hospital stay, incidence of transfusion, uterine artery embolization, ligation, hysterectomy, and postoperative complications were compared among subgroups. RESULTS: There were 119 patients who had cesarean myomectomy and 173 who had cesarean section only. An increase in postoperative hospitalization and operation time was observed in the cesarean myomectomy group compared to that in the caesarean section only group (mean difference, 0.7 days, p = 0.01, 13.5 minutes, p <0.001). Estimated blood loss, hemoglobin differences, and transfusion rates were higher in the cesarean myomectomy than in the cesarean section only group. There were no differences in postoperative complications (fever, bladder injury, and ileus) between the two groups. No hysterectomy cases were reported in the cesarean myomectomy group. In subgroup analysis, the larger and heavier the myoma, the higher the risk of bleeding that led to transfusion. Estimated blood loss, differences in hemoglobin, and transfusion rate increased depending on myoma size and weight. A significant increase in postoperative hospitalization was observed in women with larger and heavier myomas. However, there was no statistical difference among the three types of myomas. CONCLUSION: In cesarean myomectomy, larger (≥ 10 cm), and heavier myomas (≥ 500 g), were associated with postoperative outcomes, but not the number or type of myoma. The safety of cesarean myomectomy is not inferior to that of caesarean section only, considering its positive effects such as gynecological symptom relief and avoidance of the next surgery.


Subject(s)
Laparoscopy , Leiomyoma , Myoma , Uterine Myomectomy , Uterine Neoplasms , Female , Humans , Pregnancy , Uterine Myomectomy/adverse effects , Leiomyoma/surgery , Leiomyoma/epidemiology , Uterine Neoplasms/surgery , Uterine Neoplasms/epidemiology , Cesarean Section/adverse effects , Retrospective Studies , Myoma/etiology , Myoma/surgery , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Postoperative Complications/surgery , Risk Factors , Laparoscopy/adverse effects
15.
Dev Psychol ; 59(5): 953-962, 2023 May.
Article in English | MEDLINE | ID: mdl-36634003

ABSTRACT

A key aspect of children's moral and social understanding involves recognizing the value of helpful behaviors. COVID-19 has complicated this process; behaviors generally considered praiseworthy were considered problematic during the COVID-19 pandemic. The present study examined whether 6- to 12-year-olds (N = 228; residing in the United States) adapt their evaluations of helpful behavior in response to shifting norms. Specifically, we presented children with scenarios featuring helpful and unhelpful actions that involved physical interaction (e.g., hugging) or nonphysical interaction (e.g., recruiting a teacher); although all children were tested during the COVID-19 pandemic, stories portrayed individuals either before or during COVID-19. While children generally judged helpfulness positively and unhelpfulness negatively, children exhibited a selective shift in their judgments for COVID-19 scenarios: children considered helpfulness negatively and unhelpfulness positively if helping required physical interaction. These findings demonstrate that children flexibly tune their social evaluations of helping to align with evolving norms. (PsycInfo Database Record (c) 2023 APA, all rights reserved).


Subject(s)
COVID-19 , Child Development , Humans , Child , Child Development/physiology , Pandemics , Morals , Social Behavior
16.
J Med Chem ; 66(1): 596-610, 2023 01 12.
Article in English | MEDLINE | ID: mdl-36538511

ABSTRACT

Lactate dehydrogenase (LDH) is a key glycolytic enzyme and biomarker of aggressive cancers. LDHA and LDHB are two main LDH subunits, and both are frequently overexpressed in tumors and essential for tumor growth. A number of LDHA/B small-molecule inhibitors have been developed. Here, we report the discovery of the first LDH proteolysis targeting chimera (PROTAC) degrader, compound 22 (MS6105). 22 potently degraded LDHA in a time- and ubiquitin-proteasome system-dependent manner. Using an unbiased global proteomic study, we confirmed that 22 degraded both LDHA and LDHB significantly. 22 was significantly more potent than the parent LDH inhibitor in suppressing the growth of both quasi-mesenchymal state and epithelial state pancreatic cancer cell lines. Furthermore, 22 was bioavailable in mice through intraperitoneal injection. Overall, 22 could be a valuable chemical tool for the research community to explore pathophysiological functions of LDH in vitro and in vivo.


Subject(s)
L-Lactate Dehydrogenase , Pancreatic Neoplasms , Animals , Mice , Proteolysis Targeting Chimera , Proteomics , Cell Line, Tumor , Pancreatic Neoplasms/drug therapy , Proteolysis
17.
PLoS One ; 17(12): e0271624, 2022.
Article in English | MEDLINE | ID: mdl-36534659

ABSTRACT

Hereditary thrombocytopenia is a heterogeneous group of congenital disorders with a wide range of symptoms depending on the severity of platelet dysfunction or thrombocytopenia. Because of its clinical phenotypes and the bone marrow morphology associated with this condition, hereditary thrombocytopenia can be misdiagnosed as primary immune thrombocytopenia and myelodysplastic syndrome. Therefore, genetic evidence is necessary for the accurate diagnosis of hereditary thrombocytopenia. Refractory cytopenia of childhood is a subgroup of myelodysplastic syndrome that was added to the World Health Organization classification in 2008. To investigate the germline and somatic variants associated with refractory cytopenia of childhood, we performed targeted multigene sequencing in three patients with refractory cytopenia of childhood. Of the three patients, one progressed from megakaryocytic hypoplasia with thrombocytopenia, and targeted multigene sequencing revealed THPO variants in this patient and his sister. We propose that the monoallelic deletion of THPO is a potential candidate for germline predisposition to myeloid malignancy.


Subject(s)
Myelodysplastic Syndromes , Myeloproliferative Disorders , Neoplasms , Thrombocytopenia , Humans , Myeloproliferative Disorders/diagnosis , Myelodysplastic Syndromes/genetics , Thrombocytopenia/diagnosis , Disease Susceptibility
18.
Biomed Res Int ; 2022: 9450141, 2022.
Article in English | MEDLINE | ID: mdl-36506914

ABSTRACT

Background: To report the pregnancy and neonatal outcomes in patients with twin pregnancies who underwent ultrasound-indicated cerclage (UIC) and to compare them to patients with singleton pregnancies undergoing the same procedures. Methods: Patients who underwent UIC between January 2010 and December 2020 at Kangnam Sacred Heart Hospital were reviewed. We compared characteristics, pregnancy, and neonatal outcomes between patients with singleton and twin pregnancies. Results: A total of 94 women (56 singleton and 38 twin pregnancies) underwent UIC were included. The mean gestational age (GA) at cerclage and preoperative cervical length (CL) were not significantly different. Twin pregnancies were more likely to deliver at earlier median gestations than singletons (singleton, 36 + 1 weeks vs twin, 32 + 6 weeks, and p = 0.004). The frequency of preterm delivery <34 weeks in twin group was higher than in singleton group (15 (26.8%) vs 20 (52.6%) and p =0.016). However, the frequency of preterm delivery <32, <28, and <24 weeks was not significantly different between two groups. Although neonatal weights in singleton pregnancies were heavier than twin pregnancies, neonatal mortality and morbidities were not significantly different between two groups. Among various factors contributing to preterm birth, preoperative CL ≤ 15 mm was independently associated with a higher risk of preterm delivery before 34 weeks. Furthermore, pregnancy and neonatal outcomes of twin pregnancies with cervical length ≤ 15 mm are comparable with those of singleton pregnancies (GA at delivery, singleton, 35 + 1 weeks vs twin, 32 + 5 weeks, and p = 0.24; neonatal mortality, singleton, 3.4% vs twin, 4.8%, and p = 0.64). Conclusion: The pregnancy and neonatal outcomes of UIC in twin pregnancies were comparable to those in singleton pregnancies, especially when CL is ≤15 mm. UIC might be considered a safe procedure for twin pregnancies.


Subject(s)
Cerclage, Cervical , Premature Birth , Pregnancy , Humans , Infant, Newborn , Female , Cohort Studies , Pregnancy Outcome , Retrospective Studies
19.
Medicine (Baltimore) ; 101(42): e31136, 2022 Oct 21.
Article in English | MEDLINE | ID: mdl-36281127

ABSTRACT

As genetic factors increase the risk of Alzheimer's disease (AD), the families of dementia patients are at risk of AD. We aimed to evaluate the factors affecting preventive behaviors of AD in family members of AD patients. Using constructed questionnaire based on the Health Belief Model (HBM) theoretical framework, this cross-sectional study investigated factors influencing preventive behaviors of AD such the intention to take AD-preventive medicines, prior experience of taking cognitive function supplements, and AD-preventive lifestyle. 147 family members of AD patients were recruited through the Korea Alzheimer's Caregiver Association. Out of 147 participants, 94.6% had intention to take AD-preventive medicines and 46.3% had experience of taking cognitive function supplements. The intention to take AD-preventive medicines were significantly influenced by self-efficacy (odds ratio [OR] 1.39, 95% confidence interval [CI] 1.03, 1.87) and dementia knowledge (OR 3.42, 95% CI 1.13, 10.39), whereas prior experience of cognitive function supplements was significantly associated with cue to action (OR 1.22, 95% CI 1.07, 1.40). AD-preventive lifestyle was significantly influenced by socio-demographics such as age, sex, and marital status, and the HBM factors such as perceived susceptibility, self-efficacy, and cue to action. Self-efficacy, cue to action, dementia knowledge, and perceived susceptibility were significantly associated with preventive behaviors of AD. Also, family members of dementia patients, who are at risk of dementia due to genetic factors, lifestyles, and environment factors, had high level of AD-preventive lifestyle and strong intention to take AD-preventive medicines. Further research could be suggested to understand AD-preventive behavior and intention to take AD-preventive medicines in general population.


Subject(s)
Alzheimer Disease , Humans , Alzheimer Disease/prevention & control , Cross-Sectional Studies , Caregivers , Intention , Family
20.
Lancet Healthy Longev ; 3(3): e153-e165, 2022 03.
Article in English | MEDLINE | ID: mdl-36098290

ABSTRACT

BACKGROUND: Dementia and depression are highly prevalent and comorbid conditions among older adults living in care homes and are associated with individual distress and rising societal costs. Effective, scalable, and feasible interventions are needed. Music interventions have shown promising effects, but the current evidence base is inconclusive. The present study aimed to determine the effectiveness of two different music interventions on the depressive symptoms of people with dementia living in residential aged care. METHODS: We implemented a 2 × 2 factorial cluster-randomised controlled trial to determine whether group music therapy (GMT) is more effective than no GMT with standard care, or recreational choir singing (RCS) is more effective than no RCS with standard care, for reducing depressive symptoms and other secondary outcomes in people with dementia with mild to severe depressive symptoms living in residential aged care. Care home units with at least ten residents were allocated to GMT, RCS, GMT plus RCS, or standard care, using a computer-generated list with block randomisation (block size four). The protocolised interventions were delivered by music therapists (GMT) and community musicians (RCS). The primary outcome was Montgomery-Åsberg Depression Rating Scale score at 6 months, assessed by a masked assessor and analysed on an intention-to-treat basis using linear mixed-effects models, which examined the effects of GMT versus no-GMT and RCS versus no-RCS, as well as interaction effects of GMT and RCS. We report on the Australian cohort of an international trial. This trial is registered with ClinicalTrials.gov, NCT03496675, and anzctr.org.au, ACTRN12618000156280. FINDINGS: Between June 15, 2018, and Feb 18, 2020, we approached 12 RAC facilities with 26 eligible care home units and, excluding six units who could not be enrolled due to COVID-19 lockdowns, we screened 818 residents. Between July 18, 2018, and Nov 26, 2019, 20 care home units were randomised (318 residents). Recruitment ceased on March 17, 2020, due to COVID-19. The primary endpoint, available from 20 care home units (214 residents), suggested beneficial effects of RCS (mean difference -4·25, 95% CI -7·89 to -0·62; p=0·0221) but not GMT (mean difference -0·44, -4·32 to 3·43; p=0·8224). No related serious adverse events occurred. INTERPRETATION: Our study supports implementing recreational choir singing as a clinically relevant therapeutic intervention in reducing depressive symptoms for people with dementia in the Australian care home context. FUNDING: National Health and Medical Research Council, Australia.


Subject(s)
COVID-19 , Dementia , Music Therapy , Music , Aged , Australia/epidemiology , Communicable Disease Control , Dementia/epidemiology , Depression/epidemiology , Humans , Treatment Outcome
SELECTION OF CITATIONS
SEARCH DETAIL
...