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1.
Healthcare (Basel) ; 12(18)2024 Sep 21.
Article in English | MEDLINE | ID: mdl-39337238

ABSTRACT

BACKGROUND/OBJECTIVES: Brain tumor patients confront numerous challenges arising from diagnosis and treatment, and these impact the patient's physical, mental, and social functions at all levels. Primary informal caregivers assume a pivotal role in home-based patient care. Of particular importance are the coping strategies employed by family caregivers, as they can influence both their own health and the overall quality of home care. This study aimed to explore the associations among family function, caregiving competence, and coping strategies among primary informal caregivers. METHODS: This study adopted a cross-sectional correlational design and convenience sampling to survey the primary informal caregivers of 111 brain tumor patients. The study instruments included the Family Assessment Device General Function, Caregiving Competence Scale, and Revised Ways of Coping Checklist. RESULTS: The findings of this study revealed a significant positive correlation between the family function of primary informal caregivers and their employment of emotion-focused coping (r = 0.209, p < 0.05). Furthermore, caregiving competence exhibited a positive association with problem-focused coping (r = 0.242, p < 0.05) and emerged as a significant predictor of problem-focused coping (ß = 0.182, p < 0.05). However, neither family function (r = 0.059, p < 0.05) nor caregiving competence (r = 0.031, p < 0.05) demonstrated significant associations with total coping strategies. CONCLUSIONS: The findings of this study affirmed that enhancing the caregiving competence of primary informal caregivers of brain tumor patients can facilitate the adoption of problem-focused coping strategies.

2.
Clin Appl Thromb Hemost ; 30: 10760296241279293, 2024.
Article in English | MEDLINE | ID: mdl-39246243

ABSTRACT

This study investigates the prevalence and risk factors associated with venous thrombotic events in patients receiving (ECMO) support. Systematic review and meta-analysis of case-control and cohort studies. PubMed, Cochrane Library, Embase, CINAHL, Web of Science, Scopus, and ProQuest databases from inception through November 25, 2023.Case-control and cohort studies focusing on the prevalence and risk factors for venous thrombotic events in patients supported by ECMO. Identification of risk factors and calculation of incidence rates. Nineteen studies encompassing 10,767 participants were identified and included in the analysis. The pooled prevalence of venous thrombotic events among patients receiving ECMO support was 48% [95% confidence interval (CI) 0.37-0.60, I2 = 97.18%]. Factors associated with increased incidence rates included longer duration of ECMO support (odds ratio [OR] 1.08, 95% CI 1.07-1.09, I2 = 49%), abnormal anti-coagulation monitoring indicators (OR 1.02, 95% CI 1.00-1.04, I2 = 84%), and type of ECMO cannulation (OR 1.77, 95% CI 1.14-3.34, I2 = 64%). The pooled prevalence of venous thrombotic events in patients with ECMO support is high. Increased risk is associated with extended duration of ECMO support, abnormal anti-coagulation monitoring, and specific types of ECMO cannulation.


Subject(s)
Extracorporeal Membrane Oxygenation , Venous Thrombosis , Extracorporeal Membrane Oxygenation/adverse effects , Extracorporeal Membrane Oxygenation/methods , Humans , Venous Thrombosis/etiology , Venous Thrombosis/epidemiology , Risk Factors , Prevalence
3.
Article in English | MEDLINE | ID: mdl-39227237

ABSTRACT

Monkeypox (Mpox) has emerged as a global threat since 2022. We reported 14 cases of Mpox in 10 people with HIV (PWH) and 4 people without HIV (PWoH), of whom 64.3% had sexually transmitted co-infections. Severe complications of Mpox and prolonged viral shedding might occur in both PWH and PWoH.

4.
Taiwan J Obstet Gynecol ; 63(5): 755-758, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39266160

ABSTRACT

OBJECTIVE: We present low-level mosaic trisomy 14 at amniocentesis. CASE REPORT: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XX,+14 [4]/46,XX [27], consistent with 12.9% mosaicism for trisomy 14. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1-22, X) × 2 with no genomic imbalance. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 21 weeks of gestation and was offered expanded non-invasive prenatal testing (NIPT) which was positive for trisomy 14. At 24 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 47,XX,+14 [2]/46,XX [26], consistent with 7% mosaicism for trisomy 14. The parental karyotypes were normal. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Polymorphic marker analysis excluded uniparental disomy (UPD) 14. Interphase fluorescence in situ hybridization (FISH) analysis on 104 uncultured amniocytes detected no trisomy 14 cell. At 35 weeks of gestation, a 2315-g phenotypically normal baby was delivered. The umbilical cord and placenta had the karyotype of 46, XX (40/40 cells). aCGH analysis on the DNA extracted from peripheral blood and buccal mucosal cells at the age of three months revealed no genomic imbalance. The neonate was normal in phenotype and development during postnatal follow-ups. CONCLUSIONS: Low-level mosaic trisomy 14 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.


Subject(s)
Amniocentesis , Chromosomes, Human, Pair 14 , Comparative Genomic Hybridization , Mosaicism , Trisomy , Uniparental Disomy , Humans , Pregnancy , Female , Mosaicism/embryology , Trisomy/diagnosis , Trisomy/genetics , Adult , Uniparental Disomy/diagnosis , Uniparental Disomy/genetics , Chromosomes, Human, Pair 14/genetics , Infant, Newborn , Noninvasive Prenatal Testing/methods , Live Birth/genetics , Amnion/cytology , Pregnancy Outcome/genetics , Karyotyping/methods
5.
Taiwan J Obstet Gynecol ; 63(5): 750-754, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39266159

ABSTRACT

OBJECTIVE: We present mosaic distal 13q duplication due to mosaic unbalanced translocation 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome. CASE REPORT: A 37-year-old, gravida 2, para 0, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, add(14) (p13)[17]/46,XY[13] (56.6% mosaicism). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr 13q32.2q34 × 2∼3, consistent with 45% mosaicism for distal 13q duplication. Repeat amniocentesis at 24 weeks of gestation revealed a karyotype of 46,XY,der(14)t(13;14)(q32.2;p13)[14]/46,XY[16] (46.6% mosaicism). The parental karyotypes were normal. aCGH analysis on the DNA extracted from uncultured amniocytes revealed arr 13q32.2q34 × 2.38, consistent with 30-40% mosaicism for distal 13q duplication. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes detected 22.8% (23/101 cells) mosaicism for distal 13q duplication. Prenatal ultrasound findings were unremarkable. At 39 weeks of gestation, a 3616-g phenotypically normal baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 46,XY,der(14)t(13;14)(q32.2;p13)[20]/46,XY[20] (50% mosaicism), 46,XY,der(14)t(13;14)(q32.2;p13)[14]/46,XY[26] (35% mosaicism) and 46,XY (40/40 cells) (0% mosaicism), respectively. When follow-ups at the age of 4½ months and the age of one year, the peripheral blood had the karyotype of 46,XY,der(14)t(13;14)(q32.2;p13)[18]/46,XY[22] (45% mosaicism). Interphase FISH analysis on buccal mucosal cells at the age of 4½ months revealed 2.7% (3/110 cells) mosaicism for distal 13q duplication, compared with 1% (1/100 cells) in the normal control. The neonate was normal in phenotype and development. CONCLUSIONS: Mosaic unbalanced translocation at amniocentesis can be associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.


Subject(s)
Amniocentesis , Chromosomes, Human, Pair 13 , Mosaicism , Translocation, Genetic , Humans , Female , Pregnancy , Mosaicism/embryology , Adult , Translocation, Genetic/genetics , Chromosomes, Human, Pair 13/genetics , Comparative Genomic Hybridization , Chromosomes, Human, Pair 14/genetics , Karyotyping , Aneuploidy , Trisomy/genetics , Karyotype , Pregnancy Outcome/genetics , Chromosome Duplication/genetics , In Situ Hybridization, Fluorescence
6.
J Transcult Nurs ; : 10436596241274264, 2024 Sep 13.
Article in English | MEDLINE | ID: mdl-39268616

ABSTRACT

INTRODUCTION: Stunting is a major health problem in Indonesia. The aim of this study is to explore the experiences of mothers who take care of stunted children in rural Pamekasan Madura, Indonesia. METHODS: This research employed a phenomenological approach and conducted in-depth interviews with 11 mothers in rural Pamekasan Madura, Indonesia, using purposive sampling. Data collection took place from June to September 2023. RESULTS: This study presents Madurese mothers' experiences caring for their children with stunting through two themes and five sub-themes: (a) beliefs passed down for generations: strong ancestral influence on feeding behaviors, traditional food, and traditional health-seeking behavior; and (b) insufficient resources on nutrition: a lack of time and money to provide nutrition-rich food and a lack of nutrition information. DISCUSSION: Cultural beliefs, a lack of nutrition education, and economic barriers contribute to stunting in children. Our findings guide the design of tailored interventions for preventing stunting in Indonesian families and global communities.

8.
J Asian Nat Prod Res ; : 1-7, 2024 Aug 02.
Article in English | MEDLINE | ID: mdl-39093992

ABSTRACT

Four isocoumarin derivatives (1-4) and five phenols (5-9) were obtained from the endophytic fungus Pezicula neosporulosa VDB39, which was isolated from the branches of Vaccinium dunalianum Wight (Ericaceae). Compound 1 is a new derivative of isocoumarin. The structures were elucidated by spectroscopic methods. Single X-ray crystallography confirmed the absolute configuration of compound 1. Additionally, the antiphytopathogenic fungi activity of isocoumarin derivatives (1-4) was evaluated.

9.
Huan Jing Ke Xue ; 45(8): 4722-4732, 2024 Aug 08.
Article in Chinese | MEDLINE | ID: mdl-39168690

ABSTRACT

In this study, the modified equivalent factor method was applied to account for the long time series ecosystem service value (ESV) of the Yihe River Basin from 1975 to 2020 in the context of land use change, and the cold hot spot analysis and topographic position analysis methods were introduced to explore the characteristics of its spatial pattern. The results showed that: ① From 1975 to 2020, the land use type of the Yihe River Basin was dominated by arable land, and the land use changes were characterized by the rapid decrease of arable land and the continuous expansion of construction land, a slight increase in the area of forest land and grassland, a contraction of the water body area, and little change in the area of unused land. ② The modified equivalent factor method was more suitable for accounting for the ESV in the basin. From 1975 to 2020, the overall ESV of the basin showed an upward spiral trend (33.369-33.816 billion CNY), dominated by the regulating services. The ESV of arable land was the highest with a decreasing trend, whereas the ESV of unused land was the lowest. ③ In the horizontal spatial pattern, the hot spot of ESV was near mountains and reservoirs, and the cold spot of ESV was near urban areas. In terms of vertical spatial patterns, with growing topographic gradient, vertical changes in ESV for all land use types showed an increasing trend followed by a decreasing trend. The results of the study revealed the spatial and temporal patterns of ecosystem service values in the Yihe River Basin in the context of land use change and provide a scientific basis for optimizing the land use structure and spatial pattern and enhancing ecosystem services.

12.
Zhongguo Gu Shang ; 37(7): 670-5, 2024 Jul 25.
Article in Chinese | MEDLINE | ID: mdl-39104067

ABSTRACT

OBJECTIVE: To investigate the clinical effect of anterior cervical discectomy and fusion (ACDF) in the treatment of cervical spondylosis of vertebral artery type(CSA). METHODS: The clinical data of 42 patients with CSA from January 2020 to January 2022 were retrospectively analyzed. There were 25 males and 17 females, aged from 30 to 74 years old with an average of (53.9±11.0) years old. There were 18 cases with single-segment lesions, 17 cases with two-segment lesions, and 7 cases with three-segment lesions. The American Academy of Otolaryngology-Head and Neck Surgery's Hearing and Balance Committee score (CHE), the Neck Disability Index (NDI) and the cervical curvature Cobb angle were recorded before surgery and after surgery at 6 months. RESULTS: All 42 ACDF patients were followed up for 6 to 30 months with an average of (14.0±5.2) months. The operative time ranged from 95 to 220 min with an average of (160.38±36.77) min, the intraoperative blood loss ranged from 30 to 85 ml with an average of (53.60±18.98) ml. Tow patients had mild postoperative dysphagia, which improved with symptomatic treatment such as nebulized inhalation. CHE score decreased from (4.05±0.96) preoperatively to (2.40±0.70) at 6 months postoperatively (t=12.97, P<0.05). The number of improved vertigo at 6 months postoperatively was 38, with an improvement rate of 90.5%. NDI score was reduced from (34.43±8.04) preoperatively to (20.76±3.91) at 6 months postoperatively (t=11.83, P<0.05). The cervical curvature Cobb angle improved from (8.04±6.70)° preoperatively to (12.42±5.23)° at 6 months postoperatively (t=-15.96, P<0.05). CONCLUSION: The ACDF procedure has outstanding clinical efficacy in treating CSA. The operation can rapidly relieve patients' episodic vertigo symptoms by relieving bony compression and reconstructing cervical curvature. However, it is necessary to strictly grasp the indications for surgery and clarify the causes of vertigo in patients, and ACDF surgery is recommended for CSA patients for whom conservative treatment is ineffective.


Subject(s)
Cervical Vertebrae , Diskectomy , Spinal Fusion , Spondylosis , Vertebral Artery , Humans , Male , Female , Middle Aged , Diskectomy/methods , Spinal Fusion/methods , Spondylosis/surgery , Aged , Adult , Cervical Vertebrae/surgery , Vertebral Artery/surgery , Retrospective Studies , Treatment Outcome
13.
Ann Surg Oncol ; 2024 Aug 17.
Article in English | MEDLINE | ID: mdl-39154160

ABSTRACT

BACKGROUND: Human papillomavirus (HPV) is a crucial prognostic factor in oropharyngeal cancer (OPC). p16 is a surrogate marker for diagnosing HPV+ OPC, however it is not direct evidence of HPV existence. OBJECTIVE: The purpose of our study was to evaluate an HPV DNA test-Cobas HPV assay-in diagnosing HPV+ OPC through neck lymph node aspiration. METHODS: Patients with suspected neck mass who received fine needle aspiration (FNA) or core needle biopsy (CNB) at the National Taiwan University Hospital between January 2018 and December 2022 were reviewed. Besides routine cytology and pathology study, needle rinse fluid was collected for the Cobas HPV assay to detect high-risk HPV. RESULTS: We analyzed 137 patients with suspected lymph nodes, 32 (23.4%) of whom were HPV+ OPC patients and 105 (76.6%) of whom had non-HPV-related disease. FNA was performed in 31 patients and CNB was performed in 106 patients, according to the size and necrosis status of the lymph nodes. For diagnosing HPV+ OPC, CNB combined with p16 immunohistochemistry staining showed sensitivity of 93.3%, specificity of 97.8%, positive predictive value (PPV) of 87.5%, negative predictive value (NPV) of 98.9%, and accuracy of 97.2%. On the other hand, for the needle rinse Roche Cobas HPV assay, the test showed sensitivity of 96.9%, specificity of 100%, PPV of 100%, NPV of 99.1%, and accuracy of 99.3%. Compared with p16 IHC staining, the Cobas HPV test showed better PPV with statistical significance (p = 0.04). CONCLUSION: The Cobas HPV assay is a US FDA-approved, highly automated, and readily used technique to directly detect the presence of high-risk HPV. We recommend utilizing the Cobas HPV assay in combination with routine cytology or histopathology examination in the work-up of neck lymphadenopathy.

14.
Sci Total Environ ; 950: 175237, 2024 Nov 10.
Article in English | MEDLINE | ID: mdl-39111432

ABSTRACT

Coral reefs are among the most diverse and valuable ecosystems on the planet, providing numerous benefits to human societies, including fisheries, coastal protection, and biodiversity conservation. In order to effectively manage and conserve coral reefs, it is essential to understand the value of the ecosystem services they provide. The System of Environmental-Economic Accounting (SEEA) framework offers a comprehensive approach for accounting for ecosystem services, which can be useful for assessing the value of natural environments. While the validity of SEEA for many marine ecosystems is increasingly acknowledged, there remains a scarcity of studies that have investigated SEEA in the context of coral reef ecosystems. To bridge this gap, this study offers extensive examination and investigates the evolution of coral reef ecosystem service research under the SEEA framework in over nearly three decades, providing a rich dataset for understanding trends and gaps. The research findings reveal interdisciplinary methodological integration in coral reef ecosystem research, incorporating remote sensing, environmental science, ecology, environmental economics, ecological economics, computer science, and citizen science. Across different time periods, within the shared focus of coral reef health and sustainability, there has been a transition from concerns about the impacts of human activities to a concentration on climate change, supported by empirical evidence and case studies. These research results contribute to our better understanding of the value of coral reef ecosystems.


Subject(s)
Climate Change , Conservation of Natural Resources , Coral Reefs , Biodiversity , Conservation of Natural Resources/methods , Ecosystem , Environmental Monitoring/methods , Fisheries
15.
Front Cell Neurosci ; 18: 1393536, 2024.
Article in English | MEDLINE | ID: mdl-39022311

ABSTRACT

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a monogenic cause of autism spectrum disorders. Deficiencies in the fragile X messenger ribonucleoprotein, encoded by the FMR1 gene, lead to various anatomical and pathophysiological abnormalities and behavioral deficits, such as spine dysmorphogenesis and learning and memory impairments. Synaptic cell adhesion molecules (CAMs) play crucial roles in synapse formation and neural signal transmission by promoting the formation of new synaptic contacts, accurately organizing presynaptic and postsynaptic protein complexes, and ensuring the accuracy of signal transmission. Recent studies have implicated synaptic CAMs such as the immunoglobulin superfamily, N-cadherin, leucine-rich repeat proteins, and neuroligin-1 in the pathogenesis of FXS and found that they contribute to defects in dendritic spines and synaptic plasticity in FXS animal models. This review systematically summarizes the biological associations between nine representative synaptic CAMs and FMRP, as well as the functional consequences of the interaction, to provide new insights into the mechanisms of abnormal synaptic development in FXS.

16.
Ecotoxicol Environ Saf ; 283: 116798, 2024 Sep 15.
Article in English | MEDLINE | ID: mdl-39083874

ABSTRACT

Propylparaben (PrPB) is a known endocrine disrupting chemicals that is widely applied as preservative in pharmaceuticals, food and cosmetics. PrPB has been detected in human urine samples and human serum and has been proven to cause functional decline in reproduction. However, the direct effects of PrPB on mammalian oocyte are still unknown. Here, we demonstrationed that exposure to PrPB disturbed mouse oocyte maturation in vitro, causing meiotic resumption arrest and first polar body extrusion failure. Our results indicated that 600 µM PrPB reduced the rate of oocyte germinal vesicle breakdown (GVBD). Further research revealed that PrPB caused mitochondrial dysfunction and oxidative stress, which led to oocyte DNA damage. This damage further disturbed the activity of the maturation promoting factor (MPF) complex Cyclin B1/ Cyclin-dependent kinase 1 (CDK1) and induced G2/M arrest. Subsequent experiments revealed that PrPB exposure can lead to spindle morphology disorder and chromosome misalignment due to unstable microtubules. In addition, PrPB adversely affected the attachment between microtubules and kinetochore, resulting in persistent activation of BUB3 amd BubR1, which are two spindle-assembly checkpoint (SAC) protein. Taken together, our studies indicated that PrPB damaged mouse oocyte maturation via disrupting MPF related G2/M transition and SAC depended metaphase-anaphase transition.


Subject(s)
Cell Cycle , Environmental Exposure , Oocytes , Parabens , Parabens/toxicity , Cell Cycle/drug effects , Oocytes/drug effects , Oocytes/growth & development , Female , Animals , Mice , Endocrine Disruptors/toxicity , Mice, Inbred ICR , Polar Bodies/drug effects , Mitochondria/drug effects , Reactive Oxygen Species/metabolism , Spindle Apparatus/drug effects , Chromosomes/drug effects , Microtubules/drug effects
17.
Sci Rep ; 14(1): 16699, 2024 07 19.
Article in English | MEDLINE | ID: mdl-39030268

ABSTRACT

To investigate the role of miR-223-3p in the modulatory effect of paeonol (Pae) on high glucose (HG)-induced endothelial cell apoptosis. HG (25 mmol/L) was used to induce cellular damage and apoptosis in the mouse cardiac microvascular endothelial cells (MCMECs). Various concentration of Pae was tested and 60 µmol/L Pae was selected for the subsequent studies. MCMECs were transfected with exogenous miR-223-3p mimics or anti-miR-223-3p inhibitors. Cell viability was assessed by MTT assay and apoptosis was quantified by flow cytometry. The expression of miR-223-3p and NLRP3 mRNA was measured using real-time quantitative RT-PCR, and protein level of NLRP3 and apoptosis-related proteins was detected by immunoblotting. Pae significantly attenuated HG-induced apoptosis of MCMECs in a concentration-dependent manner. In addition, Pae (60 µmol/L) significantly reversed HG-induced down-regulation of miR-223-3p and up-regulation of NLRP3. Pae (60 µmol/L) also significantly blocked HG-induced up-regulation of Bax and Caspase-3 as well as down-regulation of Bcl-2. Moreover, exogenous miR-223-3p mimics not only significantly attenuated HG-induced apoptosis, but also significantly suppressed NRLP-3 and pro-apoptotic proteins in the MCMECs. In contrast, transfection of exogenous miR-223-3p inhibitors into the MCMECs resulted in not only significantly increased apoptosis of the cells, but also significant suppression of NLRP3 and pro-apoptotic proteins in the cells. Pae attenuated HG-induced apoptosis of MCMECs in a concentration-dependent manner. MiR-223-3p may mediate the modulatory effects of Pae on MCMEC survival or apoptosis through targeting NLRP3 and regulating apoptosis-associated proteins.


Subject(s)
Acetophenones , Apoptosis , Endothelial Cells , Glucose , MicroRNAs , Animals , MicroRNAs/genetics , MicroRNAs/metabolism , Apoptosis/drug effects , Mice , Endothelial Cells/drug effects , Endothelial Cells/metabolism , Glucose/pharmacology , Acetophenones/pharmacology , NLR Family, Pyrin Domain-Containing 3 Protein/metabolism , NLR Family, Pyrin Domain-Containing 3 Protein/genetics , Up-Regulation/drug effects , Cell Survival/drug effects , Cells, Cultured , Microvessels/cytology , Microvessels/metabolism , Microvessels/drug effects
18.
Life Sci Alliance ; 7(10)2024 Oct.
Article in English | MEDLINE | ID: mdl-38991729

ABSTRACT

Embryonic germ cells develop rapidly to establish the foundation for future developmental trajectories, and in this process, they make critical lineage choices including the configuration of their unique identity and a decision on sex. Here, we use single-cell genomics patterns for the entire embryonic germline in Drosophila melanogaster along with the somatic gonadal precursors after embryonic gonad coalescence to investigate molecular mechanisms involved in the setting up and regulation of the germline program. Profiling of the early germline chromatin landscape revealed sex- and stage-specific features. In the male germline immediately after zygotic activation, the chromatin structure underwent a brief remodeling phase during which nucleosome density was lower and deconcentrated from promoter regions. These findings echoed enrichment analysis results of our genomics data in which top candidates were factors with the ability to mediate large-scale chromatin reorganization. Together, they point to the importance of chromatin regulation in the early germline and raise the possibility of a conserved epigenetic reprogramming-like process required for proper initiation of germline development.


Subject(s)
Chromatin Assembly and Disassembly , Chromatin , Drosophila melanogaster , Embryonic Development , Animals , Male , Drosophila melanogaster/embryology , Drosophila melanogaster/genetics , Chromatin/metabolism , Chromatin/genetics , Chromatin Assembly and Disassembly/genetics , Embryonic Development/genetics , Gene Expression Regulation, Developmental/genetics , Embryonic Germ Cells/metabolism , Embryonic Germ Cells/cytology , Germ Cells/metabolism , Epigenesis, Genetic , Female , Nucleosomes/metabolism , Nucleosomes/genetics , Single-Cell Analysis/methods
19.
Inorg Chem ; 63(29): 13707-13713, 2024 Jul 22.
Article in English | MEDLINE | ID: mdl-38973588

ABSTRACT

Due to the unique geometric and electronic structures, supported metal clusters with sizes below 3 nm have appealed to great interest in heterogeneous catalysis. However, these supported ultrasmall metal clusters would endure severe particle coalescences under high reaction temperatures. Herein, based on the technology of ball-milling processing, we propose a solid-state "surface-anchoring" strategy to synthesize thermally stabilized Al2O3-supported Ni nanoclusters. Interestingly, when the theoretical Ni loading weight was 1 wt %, highly dispersed Ni species were found where no Ni nanoparticles would be seen after 500 °C calcination. Until the Ni loading weight increased to 5 wt % and the calcination temperature increased to 750 °C, the Ni nanoparticles became significant but still with a size of only about 6.8 nm. With the small Ni nanoparticles, the final 5-Ni-Al2O3-OAm-750 sample worked well as methane dry reforming catalysts with excellent anticoking performance during a 500 h stability test.

20.
Orphanet J Rare Dis ; 19(1): 225, 2024 Jun 06.
Article in English | MEDLINE | ID: mdl-38844943

ABSTRACT

BACKGROUND: Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-genetic features, and prognosis of LARS1 disease remain largely elusive. METHODS: Three new instances of ILFS1 with confirmed variants in LARS1, encoding LARS1, were identified. Disease characteristics were summarized together with those of 33 reported cases. Kaplan-Meier analysis was performed to assess prognostic factors in ILFS1 patients. RESULTS: The 3 new ILFS1 patients harbored 6 novel variants in LARS1. Among the 36 known patients, 12 died or underwent liver transplantation. The main clinical features of ILFS1 were intrauterine growth restriction (31/32 patients in whom this finding was specifically described), failure to thrive (30/31), hypoalbuminemia (32/32), microcytic anemia (32/33), acute liver failure (24/34), neurodevelopmental delay (25/30), seizures (22/29), and muscular hypotonia (13/27). No significant correlations were observed between genotype and either presence of liver failure or clinical severity of disease. Kaplan-Meier analysis indicated that age of onset < 3mo (p = 0.0015, hazard ratio = 12.29, 95% confidence interval [CI] = 3.74-40.3), like liver failure (p = 0.0343, hazard ratio = 6.57, 95% CI = 1.96-22.0), conferred poor prognosis. CONCLUSIONS: Early age of presentation, like liver failure, confers poor prognosis in ILFS1. Genotype-phenotype correlations remain to be established.


Subject(s)
Liver Failure , Humans , Female , Male , Infant , Prognosis , Liver Failure/genetics , Liver Failure/pathology , Infant, Newborn , Liver Failure, Acute/genetics , Liver Failure, Acute/mortality
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