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1.
PLoS One ; 19(9): e0310505, 2024.
Article in English | MEDLINE | ID: mdl-39298416

ABSTRACT

BACKGROUND: Chiari-like malformation in dogs and Chiari malformation type 1 in humans are conditions characterized by a relatively small caudal cranial fossa, leading to cerebellar herniation. This study aimed to develop a rat model of Chiari-like malformation using surgical techniques based on morphological characteristics observed in dogs. METHODS: Endocranial magnetic resonance images of both normal dogs and dogs diagnosed with Chiari-like malformation were retrospectively analyzed. Measurements of the caudal cranial fossa volume, rostral and medial fossa volume, and volume index were taken. The differences in caudal cranial fossa volume and volume index between normal dogs and those diagnosed with Chiari-like malformation were then utilized to create a rat model of Chiari-like malformation through surgical intervention. The measurements were conducted on both the rat Chiari-like malformation models and normal rats, with each measurement taken twice and the mean values calculated. RESULTS: Significant differences were found between normal dogs and dogs diagnosed with Chiari-like malformation in terms of the volume of the caudal cranial fossa (27.62% reduction) and the volume index (23.36% reduction) (p<0.05). These differences were used to develop a rat model, which also showed significant reductions in both caudal cranial fossa volume (29.52%) and volume index (28.30%) compared to normal rats (p<0.05). The condition in the rat model was confirmed through magnetic resonance imaging, which revealed cerebellar herniation into the foramen magnum. CONCLUSIONS: The study successfully established a rat model of Chiari-like malformation that accurately reproduces the morphological features observed in dogs. This model potentially serves as a valuable tool for investigating the pathological mechanisms and potential therapeutic approaches for Chiari-like malformation in veterinary medicine.


Subject(s)
Arnold-Chiari Malformation , Disease Models, Animal , Magnetic Resonance Imaging , Animals , Dogs , Arnold-Chiari Malformation/veterinary , Arnold-Chiari Malformation/diagnostic imaging , Arnold-Chiari Malformation/pathology , Rats , Male , Female , Retrospective Studies
2.
Article in English | MEDLINE | ID: mdl-39196878

ABSTRACT

DISCLAIMER: In an effort to expedite the publication of articles, AJHP is posting manuscripts online as soon as possible after acceptance. Accepted manuscripts have been peer-reviewed and copyedited, but are posted online before technical formatting and author proofing. These manuscripts are not the final version of record and will be replaced with the final article (formatted per AJHP style and proofed by the authors) at a later time. PURPOSE: To evaluate the effect of oncology services rendered by clinical pharmacists on reducing chemotherapy-induced nausea and vomiting (CINV) and improving overall treatment experiences. METHODS: A systematic review and meta-analysis were conducted using studies retrieved from PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and Research Information Sharing Service (RISS). The incidence and severity of CINV were evaluated as primary outcomes. Secondary outcomes were patient adherence, patient satisfaction, quality of life (QoL), emergency department (ED) visits, hospitalizations, and costs. RESULTS: A total of 12 studies were selected for systematic review, with 8 studies eligible for meta-analysis. We found that clinical pharmacy services contributed to preventing and alleviating CINV as well as improving patient's medication adherence, treatment satisfaction, and QoL, reducing hospital visits, and achieving cost savings. In the meta-analysis, pharmacists' interventions were notably effective in reducing the incidence of nausea (odds ratio [OR], 1.917; 95% CI, 1.243-2.955; P = 0.003) and vomiting (OR, 2.491; 95% CI, 1.199-5.177; P = 0.014) during overall treatments periods relative to results in control groups. In addition, the impact of clinical pharmacy services on CINV control was greater during the delayed phase compared to the acute phase. CONCLUSION: This study demonstrated the important role of clinical pharmacy services in controlling CINV and enhancing the overall treatment experience for patients with cancer. Further studies with standardized pharmacists' services and outcome measures are needed to validate our findings.

3.
BMC Plant Biol ; 24(1): 215, 2024 Mar 26.
Article in English | MEDLINE | ID: mdl-38532331

ABSTRACT

BACKGROUND: Seed dormancy is a biological mechanism that prevents germination until favorable conditions for the subsequent generation of plants are encountered. Therefore, this mechanism must be effectively established during seed maturation. Studies investigating the transcriptome and miRNAome of rice embryos and endosperms at various maturation stages to evaluate seed dormancy are limited. This study aimed to compare the transcriptome and miRNAome of rice seeds during seed maturation. RESULTS: Oryza sativa L. cv. Nipponbare seeds were sampled for embryos and endosperms at three maturation stages: 30, 45, and 60 days after heading (DAH). The pre-harvest sprouting (PHS) assay was conducted to assess the level of dormancy in the seeds at each maturation stage. At 60 DAH, the PHS rate was significantly increased compared to those at 30 and 45 DAH, indicating that the dormancy is broken during the later maturation stage (45 DAH to 60 DAH). However, the largest number of differentially expressed genes (DEGs) and differentially expressed miRNAs (DEmiRs) were identified between 30 and 60 DAH in the embryo and endosperm, implying that the gradual changes in genes and miRNAs from 30 to 60 DAH may play a significant role in breaking seed dormancy. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses confirmed that DEGs related to plant hormones were most abundant in the embryo during 45 DAH to 60 DAH and 30 DAH to 60 DAH transitions. Alternatively, most of the DEGs in the endosperm were related to energy and abiotic stress. MapMan analysis and quantitative real-time polymerase chain reaction identified four newly profiled auxin-related genes (OsSAUR6/12/23/25) and one ethylene-related gene (OsERF087), which may be involved in seed dormancy during maturation. Additionally, miRNA target prediction (psRNATarget) and degradome dataset (TarDB) indicated a potential association between osa-miR531b and ethylene biosynthesis gene (OsACO4), along with osa-miR390-5p and the abscisic acid (ABA) exporter-related gene (OsMATE19) as factors involved in seed dormancy. CONCLUSIONS: Analysis of the transcriptome and miRNAome of rice embryos and endosperms during seed maturation provided new insights into seed dormancy, particularly its relationship with plant hormones such as ABA, auxin, and ethylene.


Subject(s)
MicroRNAs , Oryza , Plant Dormancy/genetics , Oryza/genetics , Transcriptome , Plant Growth Regulators/metabolism , Germination/genetics , Seeds/genetics , Abscisic Acid/metabolism , Ethylenes/metabolism , Indoleacetic Acids/metabolism , MicroRNAs/metabolism , Gene Expression Regulation, Plant
4.
Front Plant Sci ; 14: 1204279, 2023.
Article in English | MEDLINE | ID: mdl-37360705

ABSTRACT

CHH methylation (mCHH) increases gradually during embryogenesis across dicotyledonous plants, indicating conserved mechanisms of targeting and conferral. Although it is suggested that methylation increase during embryogenesis enhances transposable element silencing, the detailed epigenetic pathways underlying this process remain unclear. In Arabidopsis, mCHH is regulated by both small RNA-dependent DNA methylation (RdDM) and RNA-independent Chromomethylase 2 (CMT2) pathways. Here, we conducted DNA methylome profiling at five stages of Arabidopsis embryogenesis, and classified mCHH regions into groups based on their dependency on different methylation pathways. Our analysis revealed that the gradual increase in mCHH in embryos coincided with the expansion of small RNA expression and regional mCHH spreading to nearby sites at numerous loci. We identified distinct methylation dynamics in different groups of mCHH targets, which vary according to transposon length, location, and cytosine frequency. Finally, we highlight the characteristics of transposable element loci that are targeted by different mCHH machinery, showing that short, heterochromatic TEs with lower mCHG levels are enriched in loci that switch from CMT2 regulation in leaves, to RdDM regulation during embryogenesis. Our findings highlight the interplay between the length, location, and cytosine frequency of transposons and the mCHH machinery in modulating mCHH dynamics during embryogenesis.

5.
Medicina (Kaunas) ; 59(3)2023 Feb 22.
Article in English | MEDLINE | ID: mdl-36984432

ABSTRACT

Background and Objectives: With the increased prevalence of patients with cancer, the demand for preparing cytotoxic drugs was increased by health-system pharmacists. To reduce the workload and contamination of work areas in pharmacies, compounding robots preparing cytotoxic drugs have been introduced, and the use of the robots has been expanded in recent years. As reports on the comprehensive and quantitative evaluation of compounding robots remain lacking, a systematic review and meta-analysis were conducted to provide descriptive and quantitative evaluations of the accuracy of preparing injectable cytotoxic drugs. Materials and Methods: A systematic review and meta-analysis were conducted using published studies up to 2020. To identify eligible studies, PubMed, EMBASE, and Cochrane Library were used. All studies reporting the outcomes relevant to drug-compounding robots such as accuracy, safety, and drug contamination were included. Outcomes from included studies were descriptively summarized. Drug contamination by the robot was quantitatively analyzed using the odds ratio (OR) with a 95% confidence interval (CI). The risk of bias was assessed using the Risk of Bias Assessment tool for Non-randomized Studies (RoBANS). Results: A total of 14 compounding robot studies were eligible for review and 4 studies were included in the meta-analysis. Robotic compounding showed failure rates of 0.9-16.75%, while the accuracy range was set at 5%. Two studies reported that robotic compounding needed more time than manual compounding, two reported that robotic compounding needed less time, and one just reported preparation time without a control group. In a meta-analysis regarding the contamination of the compounding area, manual compounding was associated with lower contamination, although the result was not statistically significant (OR 4.251, 95% CI 0.439-51.772). For the contamination of infusion bags, the robot was associated with lower contamination (OR 0.176, 95% CI 0.084-0.365). Conclusions: Robotic compounding showed better accuracy than manual compounding and, without control groups, showed a high accuracy rate and also reduced the risk of drug contamination and compounding workload. The preparation time of the robot was not consistent because the type of robot and introduced system were different. In conclusion, robotic compounding showed mixed results compared to the manual compounding of drugs, so the system should be introduced considering the risks and benefits of robots.


Subject(s)
Antineoplastic Agents , Robotic Surgical Procedures , Robotics , Humans , Drug Compounding/methods , Antineoplastic Agents/therapeutic use , Robotics/methods
6.
J Med Internet Res ; 25: e40778, 2023 01 30.
Article in English | MEDLINE | ID: mdl-36716080

ABSTRACT

BACKGROUND: With widespread use of the internet and mobile devices, many people have gained improved access to health-related information online for health promotion and disease management. As the health information acquired online can affect health-related behaviors, health care providers need to take into account how each individual's online health literacy (eHealth literacy) can affect health-related behaviors. OBJECTIVE: To determine whether an individual's level of eHealth literacy affects actual health-related behaviors, the correlation between eHealth literacy and health-related behaviors was identified in an integrated manner through a systematic literature review and meta-analysis. METHODS: The MEDLINE, Embase, Cochrane, KoreaMed, and Research Information Sharing Service databases were systematically searched for studies published up to March 19, 2021, which suggested the relationship between eHealth literacy and health-related behaviors. Studies were eligible if they were conducted with the general population, presented eHealth literacy according to validated tools, used no specific control condition, and measured health-related behaviors as the outcomes. A meta-analysis was performed on the studies that could be quantitatively synthesized using a random effect model. A pooled correlation coefficient was generated by integrating the correlation coefficients, and the risk of bias was assessed using the modified Newcastle-Ottawa Scale. RESULTS: Among 1922 eHealth literacy-related papers, 29 studies suggesting an association between eHealth literacy and health-related behaviors were included. All retrieved studies were cross-sectional studies, and most of them used the eHealth Literacy Scale (eHEALS) as a measurement tool for eHealth literacy. Of the 29 studies, 22 presented positive associations between eHealth literacy and health-related behaviors. The meta-analysis was performed on 14 studies that presented the correlation coefficient for the relationship between eHealth literacy and health-related behaviors. When the meta-analysis was conducted by age, morbidity status, and type of health-related behavior, the pooled correlation coefficients were 0.37 (95% CI 0.29-0.44) for older adults (aged ≥65 years), 0.28 (95% CI 0.17-0.39) for individuals with diseases, and 0.36 (95% CI 0.27-0.41) for health-promoting behavior. The overall estimate of the correlation between eHealth literacy and health-related behaviors was 0.31 (95% CI 0.25-0.34), which indicated a moderate correlation between eHealth literacy and health-related behaviors. CONCLUSIONS: Our results of a positive correlation between eHealth literacy and health-related behaviors indicate that eHealth literacy can be a mediator in the process by which health-related information leads to changes in health-related behaviors. Larger-scale studies with stronger validity are needed to evaluate the detailed relationship between the proficiency level of eHealth literacy and health-related behaviors for health promotion in the future.


Subject(s)
Health Literacy , Telemedicine , Humans , Aged , Surveys and Questionnaires , Health Literacy/methods , Health Behavior , Telemedicine/methods , Health Promotion
7.
BMC Genomics ; 24(1): 36, 2023 Jan 20.
Article in English | MEDLINE | ID: mdl-36658480

ABSTRACT

BACKGROUND: Several studies showed genome-wide DNA methylation during Arabidopsis embryogenesis and germination. Although it has been known that the change of DNA methylation mainly occurs at CHH context mediated by small RNA-directed DNA methylation pathway during seed ripening and germination, the causality of the methylation difference exhibited in natural Arabidopsis ecotypes has not been thoroughly studied. RESULTS: In this study we compared DNA methylation difference using comparative pairwise multi-omics dynamics in Columbia-0 (Col) and Cape Verde Island (Cvi) ecotypes. Arabidopsis genome was divided into two regions, common regions in both ecotypes and Col-specific regions, depending on the reads mapping of whole genome bisulfite sequencing libraries from both ecotypes. Ecotype comparison was conducted within common regions and the levels of DNA methylation on common regions and Col-specific regions were also compared. we confirmed transcriptome were relatively dynamic in stage-wise whereas the DNA methylome and small RNAome were more ecotype-dependent. While the global CG methylation remains steady during maturation and germination, we found genic CG methylation differs the most between the two accessions. We also found that ecotype-specific differentially methylated regions (eDMR) are positively correlated with ecotype-specifically expressed 24-nt small RNA clusters. In addition, we discovered that Col-specific regions enriched with transposable elements (TEs) and structural variants that tend to become hypermethylated, and TEs in Col-specific regions were longer in size, more pericentromeric, and more hypermethylated than those in the common regions. Through the analysis of RdDM machinery mutants, we confirmed methylation on Col-specific region as well as on eDMRs in common region are contributed by RdDM pathway. Lastly, we demonstrated that highly variable sequences between ecotypes (HOT regions) were also affected by RdDM-mediated regulation. CONCLUSIONS: Through ecotype comparison, we revealed differences and similarities of their transcriptome, methylome and small RNAome both in global and local regions. We validated the contribution of RdDM causing differential methylation of common regions. Hypermethylated ecotype-specific regions contributed by RNA-directed DNA methylation pathway largely depend on the presence of TEs and copy-gain structural variations. These ecotype-specific regions are frequently associated with HOT regions, providing evolutionary insights into the epigenome dynamics within a species.


Subject(s)
Arabidopsis Proteins , Arabidopsis , Arabidopsis/genetics , Arabidopsis/metabolism , Ecotype , Gene Silencing , DNA Methylation , Arabidopsis Proteins/genetics , RNA, Small Interfering/genetics , Gene Expression Regulation, Plant
8.
J Med Virol ; 95(1): e28247, 2023 01.
Article in English | MEDLINE | ID: mdl-36271493

ABSTRACT

Monkeypox virus (MPXV) is a zoonotic orthopoxvirus within the Poxviridae family. MPXV is endemic to Central and West Africa. However, the world is currently witnessing an international outbreak with no clear epidemiological links to travel or animal exposure and with ever-increasing numbers of reported cases worldwide. Here, we evaluated and validated a new, sensitive, and specific real-time PCR-assay for MPXV diagnosis in humans and compare the performance of this novel assay against a Food & Drug Administration-cleared pan-Orthopox RT-PCR assay. We determined specificity, sensitivity, and analytic performance of the PKamp™ Monkeypox Virus RT-PCR assay targeting the viral F3L-gene. In addition, we further evaluated MPXV-PCR-positive specimens by viral culture, electron microscopy, and viral inactivation assays. The limit of detection was established at 7.2 genome copies/reaction, and MPXV was successfully identified in 20 clinical specimens with 100% correlation against the reference method with 100% sensitivity and specificity. Our results demonstrated the validity of this rapid, robust, and reliable RT-PCR assay for specific and accurate diagnosis of MPXV infection in human specimens collected both as dry swabs and in viral transport media. This assay has been approved by NYS Department of Health for clinical use.


Subject(s)
Monkeypox virus , Mpox (monkeypox) , Animals , Humans , Monkeypox virus/genetics , Mpox (monkeypox)/epidemiology , Reverse Transcriptase Polymerase Chain Reaction , Nucleic Acid Amplification Techniques/methods , Real-Time Polymerase Chain Reaction
9.
J Rheumatol ; 49(6 Suppl 1): 40-43, 2022 06.
Article in English | MEDLINE | ID: mdl-35365577

ABSTRACT

The International Dermatology Outcome Measures (IDEOM) initiative presented an update on their progress related to instruments for psoriasis (PsO) and psoriatic arthritis (PsA) patient-centered outcome measures at the 2021 annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA). The Treatment Satisfaction working group presented the development of a 7-item treatment satisfaction questionnaire specific for dermatological conditions. The group is beginning by assessing the validity and reliability of the instrument in PsO patient populations, with the ultimate goal of validating it for use in multiple dermatological diseases. The Musculoskeletal Symptoms working group discussed how implementation of a screening measurement tool in patients with PsO can help identify unknown diagnoses of PsA or prevent worsening of symptoms.


Subject(s)
Arthritis, Psoriatic , Dermatology , Psoriasis , Rheumatology , Arthritis, Psoriatic/diagnosis , Arthritis, Psoriatic/therapy , Humans , Psoriasis/diagnosis , Psoriasis/therapy , Reproducibility of Results , Skin
10.
Front Pharmacol ; 13: 773454, 2022.
Article in English | MEDLINE | ID: mdl-35185558

ABSTRACT

Background: Prescription medication sharing is an inappropriate medication use behavior that can lead to medication errors and adverse drug events, posing a public health threat. The reported prevalence of prescription medication lending and borrowing varies by country, ranging from 6%-23% and 5%-52%, respectively. However, research on medication sharing is scant in Asian countries. Therefore, this study aimed to describe the rate of prescription medication sharing practices and investigate the associated behavioral factors, types of shared medications, and reasons for sharing among adults in South Korea. Methods: A cross-sectional study was conducted using an online self-administered survey of 1,000 adults (aged 19-69 years; November 2020). A stratified sampling method was used to select survey participants from a nationwide consumer panel, which ensured a representative distribution of the Korean population by age, gender, and region. Descriptive and logistic regression analyses were used to evaluate the information related to sharing behavior. Results: A total of 1,000 respondents participated in this study. The mean age of the respondents was 44.7 years (standard deviation [SD], 13.4), ranging from 20 to 69 years. The rate of medication sharing was 52.4%. The most prevalently shared medications were analgesic, antipyretic, and antimigraine medications. Prescription medications were shared mostly between family and relatives. Older age was a predictive factor for sharing analgesics. Lower educational level was a predictive factor for sharing ophthalmic medications. Conclusions: Approximately one in two respondents in our study have experienced medication sharing in their lifetime. Future studies are needed to establish evidence-based strategies for patient education and improve the medication use process. Healthcare professionals should assess patients' needs for accessing medications and be ready to educate and guide them with specific action plans. Policymakers should consider patient empowerment strategies including public education and campaigns to avoid potential adverse outcomes of medication sharing.

11.
Endocr Pract ; 28(4): 420-424, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35217191

ABSTRACT

OBJECTIVE: Gender-affirming surgeries are becoming increasingly common in the United States. For many transgender and gender-diverse patients, gender-affirming surgery is a critical aspect of their overall health and wellness and has a significant impact on their social functioning. Although often the role of the primary care provider, endocrinology specialists may also need to counsel their patients and collaborate with surgical teams. METHODS: This narrative review provides an overview of the preoperative assessment and perioperative management for the most common gender-affirming surgeries. RESULTS: Preoperative assessment prior to gender-affirming surgeries can resemble assessment for other surgeries. CONCLUSION: In the absence of data specific to gender-affirming surgeries, risk stratification and amelioration must use surrogate data from other populations.


Subject(s)
Sex Reassignment Surgery , Transgender Persons , Transsexualism , Gender Identity , Humans , Perioperative Care , Sex Reassignment Surgery/methods , Transsexualism/surgery , United States
12.
Transgend Health ; 7(5): 449-452, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36644486

ABSTRACT

Purpose: Although medical care for transgender and gender nonbinary (TGNB) individuals is rapidly expanding, numerous gaps in the organization of quality care for TGNB individuals remain. In 2018, the Mount Sinai Center for Transgender Medicine and Surgery (CTMS) expanded its unified care approach to integrate services with an interdisciplinary inpatient team for surgical patients as part of the program. The inpatient team connected with the existing interdisciplinary ambulatory team with all pertinent medical and psychosocial information shared between the teams. The format enabled the hospital team to better prepare in advance of a patient's arrival and facilitated discharge planning as well. We sought to assess patient satisfaction with inpatient care after implementation of the interdisciplinary operation. Methods: The standard Press Ganey survey tool used by the Mount Sinai Health System to measure patient satisfaction with care was queried before and after implementation of the interdisciplinary inpatient care team. Results: Patient ratings of inpatient care rose dramatically. Relative to other institutions nationally, Press Ganey scores rose into the 98th or 99th percentiles across all domains. The new scores represented a rise of 25% for communication with nurses, 3% for hospital environment, 25% for care transition, and 100% for willingness to recommend. The discharge information score represented a 30-fold improvement. Conclusion: An interdisciplinary inpatient health care team can significantly improve patient satisfaction for TGNB patients. Such an approach might be considered for other TGNB health care programs along with health care delivery in other areas of medicine.

13.
Int J Mol Sci ; 22(17)2021 Aug 30.
Article in English | MEDLINE | ID: mdl-34502341

ABSTRACT

Clubroot caused by Plasmodiophora brassicae is a severe disease of cruciferous crops that decreases crop quality and productivity. Several clubroot resistance-related quantitative trait loci and candidate genes have been identified. However, the underlying regulatory mechanism, the interrelationships among genes, and how genes are regulated remain unexplored. MicroRNAs (miRNAs) are attracting attention as regulators of gene expression, including during biotic stress responses. The main objective of this study was to understand how miRNAs regulate clubroot resistance-related genes in P. brassicae-infected Brassica rapa. Two Brassica miRNAs, Bra-miR1885a and Bra-miR1885b, were revealed to target TIR-NBS genes. In non-infected plants, both miRNAs were expressed at low levels to maintain the balance between plant development and basal immunity. However, their expression levels increased in P. brassicae-infected plants. Both miRNAs down-regulated the expression of the TIR-NBS genes Bra019412 and Bra019410, which are located at a clubroot resistance-related quantitative trait locus. The Bra-miR1885-mediated down-regulation of both genes was detected for up to 15 days post-inoculation in the clubroot-resistant line CR Shinki and in the clubroot-susceptible line 94SK. A qRT-PCR analysis revealed Bra019412 expression was negatively regulated by miR1885. Both Bra019412 and Bra019410 were more highly expressed in CR Shinki than in 94SK; the same expression pattern was detected in multiple clubroot-resistant and clubroot-susceptible inbred lines. A 5' rapid amplification of cDNA ends analysis confirmed the cleavage of Bra019412 by Bra-miR1885b. Thus, miR1885s potentially regulate TIR-NBS gene expression during P. brassicae infections of B. rapa.


Subject(s)
Brassica rapa/immunology , Disease Resistance/immunology , Gene Expression Regulation, Plant , MicroRNAs/genetics , Plant Diseases/immunology , Plant Proteins/metabolism , Plasmodiophorida/physiology , Brassica rapa/genetics , Brassica rapa/parasitology , Disease Resistance/genetics , Plant Diseases/genetics , Plant Diseases/parasitology , Plant Proteins/genetics
14.
Front Plant Sci ; 12: 727302, 2021.
Article in English | MEDLINE | ID: mdl-34421977

ABSTRACT

Pre-harvest sprouting (PHS) is one of the primary problems associated with seed dormancy in rice (Oryza sativa L.). It causes yield loss and reduces grain quality under unpredictable humid conditions at the ripening stage, thus affecting the economic value of the rice crop. To resolve this issue, understanding the molecular mechanism underlying seed dormancy in rice is important. Recent studies have shown that seed dormancy is affected by a large number of genes associated with plant hormone regulation. However, understanding regarding the effect of heat stress on seed dormancy and plant hormones is limited. This study compared the transcriptome and small RNAome of the seed embryo and endosperm of two contrasting japonica rice accessions, PHS susceptible (with low seed dormancy) and PHS resistant (with high seed dormancy), at three different maturation stages. We found that 9,068 genes and 35 microRNAs (miRNAs) were differentially expressed in the embryo, whereas 360 genes were differentially expressed in the endosperm. Furthermore, we identified and verified the candidate genes associated with seed dormancy and heat stress-related responses in rice using quantitative real-time PCR. We newly discovered eight hormone-related genes, four heat shock protein-related genes, and two miRNAs potentially involved in PHS. These findings provide a strong foundation for understanding the dynamics of transcriptome and small RNAome of hormone- and heat stress-related genes, which affect PHS during seed maturation.

15.
Hum Genomics ; 15(1): 28, 2021 05 10.
Article in English | MEDLINE | ID: mdl-33971976

ABSTRACT

BACKGROUND: Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in general children or young people. The advent of high-throughput sequencing techniques has improved diagnosis in several different areas, from pediatrics, achieving a diagnostic rate of 41% with whole genome sequencing (WGS) and 36% with whole exome sequencing, to neurology, achieving a diagnostic rate between 47 and 48.5% with WGS. This evidence has encouraged our group to pursue a molecular diagnosis using WGS for this and several other patients with rare diseases. RESULTS: We used whole genome sequencing to achieve a molecular diagnosis of a 7-year-old girl with a severe panvascular artery disease that remained for several years undiagnosed. We found a frameshift variant in one copy and a large deletion involving two exons in the other copy of a gene called YY1AP1. This gene is related to Grange syndrome, a recessive rare disease, whose symptoms include stenosis or occlusion of multiple arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. Bioinformatic analyses propose these mutations as the most likely cause of the disease, according to its frequency, in silico predictors, conservation analyses, and effect on the protein product. Additionally, we confirmed one mutation in each parent, supporting a compound heterozygous status in the child. CONCLUSIONS: In general, we think that this finding can contribute to the use of whole genome sequencing as a diagnosis tool of rare diseases, and in particular, it can enhance the set of known mutations associated with different diseases.


Subject(s)
Arterial Occlusive Diseases/genetics , Cell Cycle Proteins/genetics , Heart Defects, Congenital/genetics , Rare Diseases/genetics , Transcription Factors/genetics , Arterial Occlusive Diseases/diagnosis , Arterial Occlusive Diseases/pathology , Arteries/diagnostic imaging , Arteries/pathology , Child , Female , Frameshift Mutation/genetics , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/pathology , Homozygote , Humans , Pedigree , Rare Diseases/diagnosis , Rare Diseases/pathology , Whole Genome Sequencing
16.
J Clin Endocrinol Metab ; 106(4): e1586-e1590, 2021 03 25.
Article in English | MEDLINE | ID: mdl-33417686

ABSTRACT

BACKGROUND: Both surgery and exogenous estrogen use are associated with increased risk of venous thromboembolism (VTE). However, it is not known whether estrogen hormone therapy (HT) exacerbates the surgery-associated risk among transgender and gender nonbinary (TGNB) individuals. The lack of published data has contributed to heterogeneity in perioperative protocols regarding estrogen HT administration for TGNB patients undergoing gender-affirming surgery. METHODS: A single-center retrospective chart review was performed on all TGNB patients who underwent gender-affirming surgery between November 2015 and August 2019. Surgery type, preoperative HT regimen, perioperative HT regimen, VTE prophylaxis management, outcomes, and demographic data were recorded. RESULTS: A total of 919 TGNB patients underwent 1858 surgical procedures representing 1396 unique cases, of which 407 cases were transfeminine patients undergoing primary vaginoplasty. Of the latter, 190 cases were performed with estrogen suspended for 1 week prior to surgery, and 212 cases were performed with HT continued throughout. Of all cases, 1 patient presented with VTE, from the cohort of transfeminine patients whose estrogen HT was suspended prior to surgery. No VTE events were noted among those who continued HT. Mean postoperative follow-up was 285 days. CONCLUSIONS: Perioperative VTE was not a significant risk in a large, homogenously treated cohort of TGNB patients independent of whether HT was suspended or not prior to surgery.


Subject(s)
Estrogens/adverse effects , Sex Reassignment Surgery/adverse effects , Venous Thromboembolism/etiology , Adult , Female , Humans , Male , Middle Aged , Retrospective Studies , Risk Assessment , Transgender Persons , Treatment Outcome
17.
Article in English | MEDLINE | ID: mdl-32640532

ABSTRACT

Studies have documented the impact of various types of health care information technology (HIT) on patient outcomes. However, literature on the HIT products is largely for outpatients and little is known about those for hospitalized patients. In 2014, a Korean hospital developed an inpatient portal known as the Smart Bedside Station (SBS). A retrospective cross-sectional study was conducted to evaluate the associated factors for accessing the medication view menu (Today's Medication) on the SBS using data from October 2018 through September 2019. A root cause analysis with expert review was conducted to identify additional barriers for accessing the medication view menu. Approximately 92.58% of the study population accessed the SBS at least once during their hospital stay. However, 99.20% of accessed patients used the SBS for entertainment purposes (e.g., television) and 40.16% viewed the medication information. Younger age, higher education, and certain jobs were significant associated factors for accessing the medication information. In conclusion, this study revealed strong associations between accessing the medication view menu on the SBS and a number of associated factors. Based on the results, further research is warranted to suggest new items to access the medication view menu by hospitalized patients.


Subject(s)
Electronic Health Records , Adult , Aged , Cross-Sectional Studies , Female , Humans , Inpatients , Male , Medical Informatics , Middle Aged , Retrospective Studies , Young Adult
18.
Medicina (Kaunas) ; 56(4)2020 Apr 19.
Article in English | MEDLINE | ID: mdl-32325902

ABSTRACT

Background and Objectives: Recent evidence suggests that oral health is associated with various systemic diseases including psychiatric illnesses. This study examined the association between depression and access to dental care in Korean adults. Materials and Methods: A cross-sectional evaluation was performed using data from the Sixth Korea National Health and Nutrition Examination Survey 2014. The general characteristics of the participants, the current depression status, and issues with access to dental care were collected to evaluate the factors for not being able to make dental visits according to care needs. Results: The study population comprised a total of 5976 participants who were 19 years of age and older and represented 40.7 million Koreans. A multivariable logistic regression analysis with weighted observations revealed that participants with current depressive illness were about two times more likely to express that they could not make dental visits in spite of their perceived care needs (adjusted odds ratio (OR) = 2.097; 95% confidence interval (CI) 1.046-4.203). The reasons for not making dental visits included financial problems, perceived importance of the dental problem, and fear of visiting dental professionals. Conclusions: Korean adults with current depressive illness were less likely to make dental visits when they had dental care needs. To improve dental health accessibility for patients with depressive illness, coordinated efforts can be considered involving multidisciplinary health care professionals.


Subject(s)
Dental Care/statistics & numerical data , Depression/epidemiology , Health Services Accessibility/statistics & numerical data , Adult , Aged , Cross-Sectional Studies , Dental Care/psychology , Female , Health Surveys , Humans , Male , Middle Aged , Oral Health/statistics & numerical data , Republic of Korea/epidemiology
19.
Transgend Health ; 5(3): 166-172, 2020 Sep.
Article in English | MEDLINE | ID: mdl-33644310

ABSTRACT

Objectives: With expanding coverage of gender-affirming care in the United States, many insurers default to the World Professional Association for Transgender Health (WPATH) Standards of Care 7 (SOC 7) to establish eligibility requirements for surgery coverage. Informed by bariatric and transplant surgery evaluation models, the Mount Sinai Center for Transgender Medicine and Surgery (CTMS) developed patient-centered criteria to assess readiness for surgery, focusing on concerns that could impair recovery. To make recommendations for the next version of the WPATH SOC, SOC 8, we compared Mount Sinai patient-centered surgical readiness criteria with the WPATH SOC 7 criteria. Methods: Data were extracted from a deidentified data set developed as part the quality dashboard for CTMS. The data set included all patients seeking vaginoplasty who were evaluated by a single mental health provider, from July 2016 through August 2018, and who completed the full CTMS assessment. The number of patients eligible for surgery based on the Mount Sinai CTMS criteria was compared with the number of patients eligible for surgery according to WPATH SOC 7 criteria. Results: Of 139 patients identified, 63 (45%) were ready for surgery immediately based on the Mount Sinai patient-centered model. By contrast, only 21 (15%) out of the 139 met criteria for surgery based on WPATH SOC 7. Fifty patients (40%) were ready for surgery as per Mount Sinai patient-centered readiness review but not WPATH criteria. Conclusion: An assessment designed to better prepare patients for surgery may also result in fewer barriers to care than existing criteria used by insurance companies in the United States.

20.
BMC Genomics ; 19(1): 532, 2018 Jul 13.
Article in English | MEDLINE | ID: mdl-30005603

ABSTRACT

BACKGROUND: Nitrogen (N) is a key macronutrient essential for plant growth, and its availability has a strong influence on crop development. The application of synthetic N fertilizers on crops has increased substantially in recent decades; however, the applied N is not fully utilized due to the low N use efficiency of crops. To overcome this limitation, it is important to understand the genome-wide responses and functions of key genes and potential regulatory factors in N metabolism. RESULTS: Here, we characterized changes in the rice (Oryza sativa) transcriptome, including genes, newly identified putative long non-coding RNAs (lncRNAs), and microRNAs (miRNAs) and their target mRNAs in response to N starvation using four different transcriptome approaches. Analysis of rice genes involved in N metabolism and/or transport using strand-specific RNA-Seq identified 2588 novel putative lncRNA encoding loci. Analysis of previously published RNA-Seq datasets revealed a group of N starvation-responsive lncRNAs showing differential expression under other abiotic stress conditions. Poly A-primed sequencing (2P-Seq) revealed alternatively polyadenylated isoforms of N starvation-responsive lncRNAs and provided precise 3' end information on the transcript models of these lncRNAs. Analysis of small RNA-Seq data identified N starvation-responsive miRNAs and down-regulation of miR169 family members, causing de-repression of NF-YA, as confirmed by strand-specific RNA-Seq and qRT-PCR. Moreover, we profiled the N starvation-responsive down-regulation of root-specific miRNA, osa-miR444a.4-3p, and Degradome sequencing confirmed MADS25 as a novel target gene. CONCLUSIONS: In this study, we used a combination of multiple RNA-Seq analyses to extensively profile the expression of genes, newly identified lncRNAs, and microRNAs in N-starved rice roots and shoots. Data generated in this study provide an in-depth understanding of the regulatory pathways modulated by N starvation-responsive miRNAs. The results of comprehensive, large-scale data analysis provide valuable information on multiple aspects of the rice transcriptome, which may be useful in understanding the responses of rice plants to changes in the N supply status of soil.


Subject(s)
Nitrogen/deficiency , Oryza/genetics , RNA, Untranslated/genetics , Transcriptome , Gene Expression Profiling , Gene Expression Regulation, Plant , MicroRNAs/genetics , MicroRNAs/metabolism , Oryza/metabolism , Phosphates/metabolism , Plant Roots/genetics , Plant Roots/metabolism , Plant Shoots/genetics , Plant Shoots/metabolism , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , RNA, Untranslated/metabolism , Sequence Analysis, RNA , Stress, Physiological
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