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1.
Aging Clin Exp Res ; 36(1): 106, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38714627

RESUMO

BACKGROUND: Given the rising prevalence of depression among older adults and the associated increase in caregiving responsibilities, understanding factors influencing caregiver burden is crucial. Previous research has not extensively explored the impact of caregivers' attributional styles, that is, how individuals interpret the causes of life events, on their care burden. AIM: This study examined the relationship between caregivers' attributional styles and their care burden for older patients with depression. METHODS: This cross-sectional study enrolled older adults aged ≥ 65 years diagnosed with depression and their caregivers. Depression was diagnosed according to the DSM-V criteria for Major Depressive Disorder or Persistent Depressive Disorder. Caregivers completed the Chinese Depression Caregiver Burden Scale (CDCBS) to assess care burden, the Hamilton Depression Rating Scale (HAM-D) to evaluate patient symptom severity, the Center for Epidemiological Studies Depression Scale (CES-D) for measuring caregivers' depression, and the Chinese Depression Patient Caregiver Attribution Style Scale (CDPCAS) to assess attributional styles. Hierarchical regression analysis was used to identify the factors independently associated with the caregiver's subjectively assessed care burden. RESULTS: The sample included 146 caregivers of geriatric patients with depression. Most depression patients were women (74.7%) with a mean age of 74.3 years, whereas the mean age of caregivers was 57.7 years. Hierarchical regression analysis identified that caregivers' gender (ß = - 0.14, p = .044), educational level (ß = 0.19, p = .008), caregivers' own depression assessed by the Center for Epidemiological Studies Depression Scale (ß = 0.41, p < .001), and attributional styles, particularly manipulation (ß = 0.29, p < .001) and illness/stress attributional style (ß = 0.23, p = .002) as independent factors associated with care burden. Patient symptom severity assessed using the Hamilton Depression Scale was not significantly correlated with care burden after controlling for attributional styles. CONCLUSIONS: Certain attributional styles, particularly the manipulation and illness/stress attributional styles, significantly increased self-reported care burden. These findings highlight the need for educational resources to change the attribution style, along with support systems and accessible mental health services for caregivers to potentially ease the care burden.


Assuntos
Cuidadores , Depressão , Humanos , Masculino , Feminino , Idoso , Cuidadores/psicologia , Estudos Transversais , Depressão/psicologia , Depressão/epidemiologia , Pessoa de Meia-Idade , Taiwan/epidemiologia , Idoso de 80 Anos ou mais , Sobrecarga do Cuidador/psicologia , Efeitos Psicossociais da Doença
2.
J Sci Med Sport ; 27(5): 293-301, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38365534

RESUMO

OBJECTIVES: Exercise is an effective intervention for obstructive sleep apnea (OSA). However, the effects of exercise on objective sleep architecture in patients with OSA remain unknown. This meta-analysis aimed to collect data from randomized controlled trials of exercise interventions in patients with OSA, with a specific focus on objective sleep parameters derived from polysomnography. METHODS: Randomized control trials that targeted patients with OSA aged >18 years, measured sleep using polysomnography after exercise programs, and reported the proportion of sleep stages were included for meta-analysis. Bias was assessed using the revised Cochrane risk-of-bias tool and funnel plots. The random effects model was applied. RESULTS: Six studies with a total of 236 patients were included in the meta-analysis. There were no significant differences in the total sleep time (TST), sleep efficiency, sleep onset latency, stage N1 sleep, or rapid eye movement sleep between the exercise and control groups. Participation in an exercise program lasting >12 weeks significantly decreased stage N2 and increased stage N3 sleep as observed in the subgroup analysis. Although this tendency did not reach statistical significance in the total-group analysis, it was significant after excluding the possible confounding effects of heart disease. CONCLUSIONS: The exercise program decreased N2 and increased N3 proportions over the TST among patients with OSA, which may correspond to subjective sleep quality. The beneficial effects were significant when the program lasted >12 weeks and after excluding the confounding effects of heart disease. Exercise program duration should be considered when providing clinical advice.


Assuntos
Terapia por Exercício , Polissonografia , Ensaios Clínicos Controlados Aleatórios como Assunto , Apneia Obstrutiva do Sono , Humanos , Apneia Obstrutiva do Sono/terapia , Apneia Obstrutiva do Sono/fisiopatologia , Terapia por Exercício/métodos , Fases do Sono/fisiologia , Exercício Físico/fisiologia
3.
Materials (Basel) ; 17(4)2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38399055

RESUMO

Al 6082 aluminum alloy has excellent corrosion resistance, strength, and formability. However, owing to the recrystallization effect of a hot working process, coarse grains form easily in this material, which reduces its strength and service life. The novel continuous casting direct rolling (CCDR) method can prevent the deterioration of this material. Thus, we used CCDR Al 6082 aluminum alloy as the research material in this study. By subjecting a CCDR Al 6082 aluminum alloy to heat treatment (T4 and T6) and cold rolling, the influence of recrystallization effect on its mechanical properties and on impact failure resistance were explored. The results demonstrated that the specimen subjected to T4 heat treatment had a higher elongation and that the specimen subjected to T6 heat treatment had a higher strength. After cold rolling, the hardness and strength of the specimens subjected to different heat treatments (coded T4R4 and T6R4) increased because of the work's hardening effect. Moreover, the elongations of both specimens decreased, but they were higher than the industrial standard (>10%). The strength of specimen T6R4 was higher (up to 400 MPa) than specimen T4R4. Moreover, relative to specimen T4R4, specimen T6R4 had greater tensile and Charpy impact failure toughness.

4.
BMC Pregnancy Childbirth ; 23(1): 604, 2023 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-37612626

RESUMO

BACKGROUD: To investigate the effect of Luteinizing hormone (LH) level changes on the outcomes of controlled ovarian hyperstimulation (COH) and embryo transfer (ET) in gonadotropin-releasing hormone antagonist (GnRH-ant) protocol. METHODS: A total of 721 patients undergoing GnRH-ant protocol COH for the first IVF/ICSI cycles were retrospectively analyzed. COH process were divided into 2 stages, before (stage 1) and after (stage 2) the GnRH-ant initiation, and each with 5 groups basing on LH levels: LH decreased more than 50% (groups A1, A2), decreased 25-50% (groups B1, B2), change less than 25% (groups C1, C2), increased 25-50% (groups D1, D2), and increased more than 50% (groups E1, E2). RESULTS: There were no significant differences among groups of stage1 regarding COH and ET outcomes. For stage 2, the more obvious the decrease of LH level, the more the number of oocytes retrieved, mature oocytes, fertilized oocytes, embryos cleavaged and the numbers of embryo available (P < 0.05), but without significant differences regarding ET outcomes. We also found the freeze-all rate in Group A2 was higher (P < 0.001). CONCLUSION: LH level changes before GnRH-ant addition were not related to COH and ET outcomes. LH level changes after the addition of GnRH-ant were related to the outcome of COH, and no significant differences were found relating to ET outcomes.


Assuntos
Hormônio Luteinizante , Oócitos , Humanos , Estudos Retrospectivos , Transferência Embrionária , Antagonistas de Hormônios/uso terapêutico , Hormônio Liberador de Gonadotropina
5.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 31(4): 1133-1137, 2023 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-37551488

RESUMO

OBJECTIVE: To analyze the prevalence, genotype distribution and hematological characteristics of α,ß-thalassaemia carriers in Huizhou area of Guangdong Province. METHODS: 10 809 carriers of simple ß-thalassaemia and 1 757 carriers of α,ß-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers. RESULTS: The prevalence of α,ß-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, ßCD41-42/ ßN (19.29%), the next was --SEA/ αα, ßIVS-II-654/ ßN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple ß-thalassaemia and α,ß-thalassaemia. Violin plots showed that carriers with co-inheritance of ß-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of ß-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia. CONCLUSION: There is a high prevalence of α,ß-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,ß-thalassaemia, it is necessary to distinguish it from simple ß-thalassaemia by genotyping of α- and ß-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.


Assuntos
Talassemia alfa , Talassemia beta , Gravidez , Feminino , Humanos , Talassemia beta/epidemiologia , Talassemia beta/genética , Genótipo , Heterozigoto , Fenótipo , Talassemia alfa/epidemiologia , Talassemia alfa/genética , China/epidemiologia , Mutação
6.
Psychol Res Behav Manag ; 16: 1755-1762, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37187781

RESUMO

Purpose: People's health-care-seeking behaviors considerably changed during the COVID-19 pandemic. This study evaluated the changes in self-harm- and violence-related urgent psychiatric consultation (UPC) in the emergency department (ED) during different stages of the pandemic and at different levels of hospitals. Patients and Methods: We recruited patients who received UPC during the baseline (2019), peak (2020), and slack (2021) periods of the same time window (calendar weeks 4-18) during the COVID-19 pandemic. Demographic data such as age, sex, and referral type (by the police/emergency medical system) were also recorded. Results: We found female gender and younger age associated with higher risk of self-harm-related UPCs, whereas patients visiting regional hospitals, male patients, and patients referred by the policy/emergency medical system, had a higher risk of violence-related UPCs. After adjustment, the different pandemic stages were not significantly associated with self-harm- or violence-related UPCs. Conclusion: Patient's demographic data, but not the pandemic itself, may be responsible for the changes in self-harm- and violence-related UPCs during the pandemic.

7.
Neuropsychiatr Dis Treat ; 19: 663-671, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37007613

RESUMO

Objective: Prevention, de-escalation, and management of violence in the acute psychiatric ward is essential. Few studies have focused on differences in the duration of high-violence risk between different profiles of high-violence risk. This study aimed to analyze the data of high-violence patients and duration of high-violence risk to provide a new perspective on violence prevention, de-escalation and management. Methods: This retrospective observational cohort study included 171 patients who were treated in the acute psychiatric ward of Keelung Chang Gung Memorial Hospital between January 2016 and June 2020, and who were assessed daily as having high violence risk. All patient data were collected from electronic hospital records (eg, age, gender, diagnosis, violence history, self-harm history, and admission condition (involuntary admission, discharged against medical advice). Between-group differences in disease severity, use of antipsychotics and benzodiazepine, and duration of high violence risk were analyzed using regression analysis. Results: Only patients' age was significantly associated with duration of high-violence risk (P = 0.028), making it predictive of longer duration of high-violence risk. In patients with schizophrenia spectrum disorder or bipolar disorder, higher severity was significantly associated with longer duration of high-violence risk (P = 0.007, P = 0.001, respectively). Conclusion: Only age is a predictor of longer duration of violence risk in psychiatric patients, although higher severity is associated with higher violence risk. Study results may help management and healthcare staff better understand how quickly or slowly violence risk will decrease and may improve efficient use of healthcare resources and individualized patient-centered care.

9.
Opt Express ; 31(4): 5708-5721, 2023 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-36823844

RESUMO

We present a theoretical study of the orbital-resolved photoelectron momentum distributions (PMDs) of F- ions by a two-color counter-rotating circularly polarized field. We show that the PMDs of F- ions can be modulated from an isotropic symmetric distribution into a three-lobe one by adding a weak fundamental counter-rotating field to the intense second harmonic circularly polarized field, and this modulation strongly depends on the initial atomic orbital. The PMDs simulated by the strong-field approximation method show good agreement with those obtained by solving the time-dependent Schrödinger equation. Based on the strong-field approximation method, we find that the radial momentum shift of PMDs for different orbitals is the fingerprint of orbital-dependent initial momentum at the tunnel exit. More importantly, we demonstrate that the lobes in PMDs appear in sequential order, highlighting that the scheme can be viewed as controllable rotating temporal Young's two-slit interferometer.

10.
Nat Prod Res ; : 1-6, 2022 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-36323318

RESUMO

Colletotrin A (1), a new 1,4-benzoxazine derivative, and eight known compounds, including two alkaloids (2-3), one acylamide (4), one benzaldehyde (5), and four sterols (6-9) were obtained from endophytic fungus Colletotrichum gloeosporioides B-142, which was isolated from Dracaena cochinchinensis. Among them, 1,2,3,4-tetrahydroquinoline-4,8-diol (2) was reported for the first time as natural product. The structure of compound 1 was elucidated with help of spectroscopic data including IR, UV, electronic circular dichroism (ECD) calculation, HRESIMS, 1D and 2D NMR (COSY, HSQC and HMBC). The antimicrobial activities were evaluated by disc diffusion method.

11.
Org Lett ; 24(38): 6936-6939, 2022 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-36130037

RESUMO

Hedychin E (1), a novel labdane-type norditerpenoid, and hedychin F (2), a new labdane-type dinorditerpenoid, were isolated from the rhizomes of Hedychium forrestii. Their structures were determined through a combination of spectroscopic analysis and X-ray single-crystal diffractions. Hedychin E (1) is an unprecedented 6-norditerpenoid with a fused tetrahydrofuran-lactone motif, and a reasonable biosynthetic pathway for 1 was proposed. Compound 2 showed a significant anti-inflammatory effect against LPS-induced NO production in macrophage RAW264.7 cells with an IC50 value of 21.0 µM.


Assuntos
Diterpenos , Zingiberaceae , Animais , Anti-Inflamatórios/farmacologia , Diterpenos/química , Diterpenos/isolamento & purificação , Furanos/química , Inflamação/induzido quimicamente , Lactonas/química , Lipopolissacarídeos , Camundongos , Estrutura Molecular , Células RAW 264.7 , Rizoma/química , Zingiberaceae/química
12.
Int J Biol Macromol ; 215: 646-656, 2022 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-35777508

RESUMO

Currently, it is still a huge challenge to prepare high performance eco-friendly poly(lactic acid) (PLA) with high thermal stability, good processability, excellent crystallization behavior, good transparency and highly-efficient fire safety. In this paper, a novel bio-based nucleation agent N-(furan-2-ylmethyl)-P,P-diphenylphosphinic amide (FPPA) was prepared and used for the fabrication of fire safety PLA/FPPA composites. The chemical structure of FPPA was measured by FTIR, NMR and MS. Further, the crystallization behavior, thermal stability, fire safety and mechanical properties of PLA/FPPA composites were performed by TGA, DSC, polarization microscope, LOI, UL94, cone calorimeter, DMA and, SEM, Raman, GC-MS, and TGA-FTIR. The results showed that the multifunctional FPPA not only had a high thermal stability and was a good nucleation agent for PLA. Moreover, only loading of 3 wt% FPPA increased the LOI of PLA from 19.0 to 33.8 % with UL-94 V-0 classification. Furthermore, the heat release rate and total heat release values of PLA/3%FPPA composite reduced by 6.3 % and 15.3 % in cone-calorimeter test. Such high fire safety was mainly attributed to specific fire safety radicals due to thermal degradation of FPPA to interrupt composites burning in gas phase. Besides, transparency and mechanical properties were almost not changed because of low loading of FPPA in PLA. This multifunctional bio-based fire-retardant for PLA with good comprehensive performance promises broad application in engineering electronics, automobiles, 3D printing and construction materials.


Assuntos
Retardadores de Chama , Cristalização , Poliésteres/química
13.
BMC Psychiatry ; 22(1): 384, 2022 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-35672738

RESUMO

BACKGROUND: The coronavirus disease 2019 pandemic significantly affected emergency department (ED) visits and urgent psychiatric consultation (UPC) seeking behavior in EDs. Our study explored the changes in UPCs during and after the pandemic peak. METHODS: This retrospective observational study evaluated UPCs in the ED of a referral medical center in Taiwan, where treated both physical and psychiatric complaints. We defined the COVID-19 pandemic peak period as calendar week 4-18, 2020. The corresponding baseline as calendar week 4-18, 2019, and the slack period as week 4-18, 2021. The total number of UPCs, patient demographic data such as sex and age of the patients seen, the referral system (whether police or emergency medical service [EMS] or other sources), and the chief complaint (self-harm or violence) were recorded. RESULTS: Compared with the baseline period, a significant decline in UPCs was observed in the pandemic peak period, and a rebound was observed in the slack period, with the median [IQR] Q1, Q3 values of 22 [18, 26], 12 [10, 17]), and 16 [15, 23], respectively. We observed significantly few men (34.9% vs 45.2%) and less violence (10.2% vs 17.6%) in the peak period compared with in the baseline period, but no significant difference was found compared with the slack period. Throughout the pandemic, younger patients (41.8 ± 17.4 in 2019, 39.2 ± 18.5 [p = 0.121] in 2020, and 35.6 ± 17.2 [p < 0.001] in 2021), higher proportions of police/EMS referral (38.7% in 2019, 41.9% [p = 0.473] in 2020, and 51.9% [p = 0.001] in 2021) and self-harm-related complaints (57% in 2019, 62.4% [p = 0.233] in 2020, and 64.9% [p = 0.049] in 2021) was noted among UPC seekers during the pandemic. However, the proportion of violence-related UPCs (17.6% in 2019, 10.2% [p = 0.023] in 2020, and 12.3% [p = 0.072] in 2021) declined. CONCLUSIONS: This study found that UPCs changed throughout the pandemic. This result raises the concern that mental health needs are masked during the pandemic.


Assuntos
COVID-19 , Comportamento Autodestrutivo , COVID-19/epidemiologia , Serviço Hospitalar de Emergência , Humanos , Masculino , Pandemias , Encaminhamento e Consulta , Estudos Retrospectivos , Comportamento Autodestrutivo/epidemiologia , Violência
14.
Nat Prod Res ; 36(13): 3375-3380, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33325741

RESUMO

Two new cytochalasins, deacetyl-19-epi-cytochalasin P1 (1), deacetyl-19,20-epoxycytochalasin D (2) were isolated from the endophytic fungus Diaporthe sp. RJ-47, along with four known compounds deacetyl-5,6-dihydro-7-oxo-19,20-epoxycytochalasin C (3), 19,20-epoxycytochalasin Q (4), 19,20-epoxycytochalasin C (5) and deacetyl-19,20-epoxy cytochalasin C (6). Their structures were unambiguously elucidated on the basis of the comprehensive analysis of extensive spectroscopic data. The antimicrobial effects of these compounds were evaluated.


Assuntos
Endófitos , Endófitos/química , Estrutura Molecular
15.
Hemoglobin ; 46(6): 338-340, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36691989

RESUMO

Despite the fact that most hemoglobin (Hb) variants are clinically and hematologically silent, they can interact with thalassemias, which could sometimes give rise to complicated routine thalassemia diagnostics. Hb G-Siriraj [ß7(A4)Glu→Lys; HBB: c.22G>A] alone is a benign condition, but its coinheritance with α-thalassemia (α-thal) may lead to misdiagnosis. We describe the case of a Chinese woman with an elevated Hb A2 level who was assumed to carry heterozygous ß-thalassemia (ß-thal), but was later shown to be a double heterozygote for Hb G-Siriraj and Hb H disease. This study for the first time described hematological characteristics of a patient with a double heterozygosity for Hb G-Siriraj and Hb H disease. It is of great significance for technicians and clinicians to expand their knowledge as well as to help guide clinical diagnosis, population screening and genetic counseling.


Assuntos
Hemoglobinas Anormais , Talassemia alfa , Talassemia beta , Feminino , Humanos , Talassemia alfa/epidemiologia , Talassemia beta/genética , Hemoglobinas Anormais/genética , Erros de Diagnóstico , Povo Asiático , Heterozigoto , Mutação
16.
Opt Express ; 29(21): 33245-33256, 2021 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-34809140

RESUMO

We theoretically investigate the atomic-orbital-resolved vortex-shaped photoelectron momentum distributions (PMDs) and ionization probabilities by solving the two-dimensional time-dependent Schrödinger equation (2D-TDSE) of neon in a pair of delayed counter-rotating circularly polarized attosecond pulses. We found that the number of spiral arms in vortex patterns is twice the number of absorbed photons when the initial state is the ψm=±1 state, which satisfy a change from c2n+2 to c2n (n is the number of absorbed photons) rotational symmetry of the vortices if the 2p state is replaced by 2p+ or 2p- states. For two- and three-photon ionization, the magnetic quantum number dependence of ionization probabilities is quite weak. Interestingly, single-photon ionization is preferred when the electron and laser field corotate and ionization probabilities of 2p- is much larger than that of 2p+ if the proper time delay and wavelength are used. The relative ratio of ionization probabilities between 2p- and 2p+ is insensitive to laser peak intensity, which can be controlled by changing the wavelength, time delay, relative phase and amplitude ratio of two attosecond pulses.

17.
J Cell Mol Med ; 25(22): 10736-10746, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34697898

RESUMO

The present study aimed to explore the potential hub genes and pathways of ischaemic cardiomyopathy (ICM) and to investigate the possible associated mechanisms. Two microarray data sets (GSE5406 and GSE57338) were downloaded from the Gene Expression Omnibus (GEO) database. The limma package was used to analyse the differentially expressed genes (DEGs). Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, Disease Ontology (DO) and Gene Ontology (GO) annotation analyses were performed. A protein-protein interaction (PPI) network was set up using Cytoscape software. Significant modules and hub genes were identified by the Molecular Complex Detection (MCODE) app. Then, further functional validation of hub genes in other microarrays and survival analysis were performed to judge the prognosis. A total of 1065 genes were matched, with an adjusted p < 0.05, and 17 were upregulated and 25 were downregulated with|log2 (fold change)|≥1.2. After removing the lengthy entries, GO identified 12 items, and 8 pathways were enriched at adjusted p < 0.05 (false discovery rate, FDR set at <0.05). Three modules with a score >8 after MCODE analysis and MYH6 were ultimately identified. When validated in GSE23561, MYH6 expression was lower in patients with CAD than in healthy controls (p < 0.05). GSE60993 data suggested that MYH6 expression was also lower in AMI patients (p < 0.05). In the GSE59867 data set, MYH6 expression was lower in CAD patients than in AMI patients and lower in heart failure (HF) patients than in non-HF patients. However, there was no difference at different periods within half a year, and HF was increased when MYH6 expression was low (p < 0.05-0.01). We performed an integrated analysis and validation and found that MYH6 expression was closely related to ICM and HF. However, whether this marker can be used as a predictor in blood samples needs further experimental verification.


Assuntos
Biomarcadores , Miosinas Cardíacas/genética , Predisposição Genética para Doença , Isquemia Miocárdica/etiologia , Cadeias Pesadas de Miosina/genética , Cardiomiopatias/diagnóstico , Cardiomiopatias/etiologia , Cardiomiopatias/metabolismo , Biologia Computacional/métodos , Bases de Dados Genéticas , Perfilação da Expressão Gênica , Ontologia Genética , Humanos , Isquemia Miocárdica/diagnóstico , Isquemia Miocárdica/metabolismo , Mapeamento de Interação de Proteínas , Mapas de Interação de Proteínas , Transcriptoma
18.
Taiwan J Obstet Gynecol ; 60(4): 763-765, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34247821

RESUMO

OBJECTIVE: We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential functions. CASE REPORT: We mainly described four patients with hemoglobin (Hb) H disease caused by the rare mutation and the SEA deletion but diversity in clinical presentation. Two had survived to adulthood with normal physical and mental development, except for mild anemia. However, two were children, who had more severe clinical manifestations. One child had developmental disorders of speech and language and mild growth retardation, and the other child suffered from severe hemolytic crises precipitated by infection and received blood transfusion. CONCLUSION: This study is of great significance for clinicians to provide genetic counseling to couples at-risk of having offspring with Hb H disease and let them make the pregnancy decision, particularly reduce the occurrence of severe Hb H disease.


Assuntos
Aconselhamento Genético , Diagnóstico Pré-Natal/métodos , alfa-Globinas/genética , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Criança , Pré-Escolar , Códon , Feminino , Deleção de Genes , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Gravidez , Adulto Jovem
19.
BMC Nephrol ; 22(1): 35, 2021 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-33472594

RESUMO

BACKGROUND: While observational studies show an association between serum lipid levels and cardiovascular disease (CVD), intervention studies that examine the preventive effects of serum lipid levels on the development of CKD are lacking. METHODS: To estimate the role of serum lipid levels in the etiology of CKD, we conducted a two-sample mendelian randomization (MR) study on serum lipid levels. Single nucleotide polymorphisms (SNPs), which were significantly associated genome-wide with serum lipid levels from the GLGC and CKDGen consortium genome-wide association study (GWAS), including total cholesterol (TC, n = 187,365), triglyceride (TG, n = 177,861), HDL cholesterol (HDL-C, n = 187,167), LDL cholesterol (LDL-C, n = 173,082), apolipoprotein A1 (ApoA1, n = 20,687), apolipoprotein B (ApoB, n = 20,690) and CKD (n = 117,165), were used as instrumental variables. None of the lipid-related SNPs was associated with CKD (all P > 0.05). RESULTS: MR analysis genetically predicted the causal effect between TC/HDL-C and CKD. The odds ratio (OR) and 95% confidence interval (CI) of TC within CKD was 0.756 (0.579 to 0.933) (P = 0.002), and HDL-C was 0.85 (0.687 to 1.012) (P = 0.049). No causal effects between TG, LDL-C- ApoA1, ApoB and CKD were observed. Sensitivity analyses confirmed that TC and HDL-C were significantly associated with CKD. CONCLUSIONS: The findings from this MR study indicate causal effects between TC, HDL-C and CKD. Decreased TC and elevated HDL-C may reduce the incidence of CKD but need to be further confirmed by using a genetic and environmental approach.


Assuntos
HDL-Colesterol/sangue , LDL-Colesterol/sangue , Insuficiência Renal Crônica/sangue , Insuficiência Renal Crônica/etiologia , Triglicerídeos/sangue , Humanos , Análise da Randomização Mendeliana , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/genética , Fatores de Risco
20.
Ann Gen Psychiatry ; 19(1): 64, 2020 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-33292309

RESUMO

BACKGROUND: Women are well known to be susceptible to developing affective disorders, yet little attention has been given to effects of ovariectomy-reduced hormones and links with depression. This population-based cross-sectional study aimed to investigate possible associations between ovariectomy-reduced hormones and depression symptom scores of the Patient Health Questionnaire-9 (PHQ-9) in ovariectomized women. METHODS: Data of PHQ-9 scores, demographics and comorbidities of ovariectomized women were extracted from the U.S. National Health and Nutrition Examination Survey (NHANES) database (2013-2016) and were analyzed retrospectively. RESULTS: Among ovariectomized women in the NHANES database, serum estradiol levels were significantly positively associated with PHQ-9 scores (ß = 0.014, 95% CI: 0.001, 0.028, P = 0.040), whereas serum testosterone was negatively associated with PHQ-9 scores (ß = -0.033, 95% CI: - 0.048, - 0.018, P < 0.001) after adjusting for confounders. Further stratified analyses revealed that serum estradiol was positively associated with PHQ-9 only among women with history of estrogen use. Serum testosterone levels were negatively associated with PHQ-9 among women with or without prior estrogen use but this was only observed among women aged < = 60 years (ß = - 0.057, - 0.076, - 0.038, P < 0.001). CONCLUSIONS: Serum estradiol and testosterone are associated with PHQ-9 scores indicative for depression in ovariectomized women. The associations are modified by age and history of estrogen use. Future prospective studies are warranted to confirm these findings, carefully addressing possible confounding of age-related dementia.

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