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1.
Int J Mol Sci ; 25(13)2024 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-39000602

RESUMEN

The application of intracerebroventricular injection of streptozotocin (ICV-STZ) is considered a useful animal model to mimic the onset and progression of sporadic Alzheimer's disease (sAD). In rodents, on day 7 of the experiment, the animals exhibit depression-like behaviors. Indoleamine 2,3-dioxygenase (IDO), a rate-limiting enzyme catalyzing the conversion of tryptophan (Trp) to kynurenine (Kyn), is closely related to depression and AD. The present study aimed to investigate the pathophysiological mechanisms of preliminary depression-like behaviors in ICV-STZ rats in two distinct cerebral regions of the medial prefrontal cortex, the prelimbic cortex (PrL) and infralimbic cortex (IL), both presumably involved in AD progression in this model, with a focus on IDO-related Kyn pathways. The results showed an increased Kyn/Trp ratio in both the PrL and IL of ICV-STZ rats, but, intriguingly, abnormalities in downstream metabolic pathways were different, being associated with distinct biological effects. In the PrL, the neuroprotective branch of the Kyn pathway was attenuated, as evidenced by a decrease in the kynurenic acid (KA) level and Kyn aminotransferase II (KAT II) expression, accompanied by astrocyte alterations, such as the decrease in glial fibrillary acidic protein (GFAP)-positive cells and increase in morphological damage. In the IL, the neurotoxicogenic branch of the Kyn pathway was enhanced, as evidenced by an increase in the 3-hydroxy-kynurenine (3-HK) level and kynurenine 3-monooxygenase (KMO) expression paralleled by the overactivation of microglia, reflected by an increase in ionized calcium-binding adaptor molecule 1 (Iba1)-positive cells and cytokines with morphological alterations. Synaptic plasticity was attenuated in both subregions. Additionally, microinjection of the selective IDO inhibitor 1-Methyl-DL-tryptophan (1-MT) in the PrL or IL alleviated depression-like behaviors by reversing these different abnormalities in the PrL and IL. These results suggest that the antidepressant-like effects linked to Trp metabolism changes induced by 1-MT in the PrL and IL occur through different pathways, specifically by enhancing the neuroprotective branch in the PrL and attenuating the neurotoxicogenic branch in the IL, involving distinct glial cells.


Asunto(s)
Antidepresivos , Depresión , Indolamina-Pirrol 2,3,-Dioxigenasa , Quinurenina , Estreptozocina , Triptófano , Animales , Indolamina-Pirrol 2,3,-Dioxigenasa/metabolismo , Estreptozocina/toxicidad , Ratas , Masculino , Quinurenina/metabolismo , Antidepresivos/farmacología , Antidepresivos/administración & dosificación , Triptófano/metabolismo , Triptófano/farmacología , Depresión/tratamiento farmacológico , Depresión/metabolismo , Depresión/inducido químicamente , Inyecciones Intraventriculares , Corteza Prefrontal/metabolismo , Corteza Prefrontal/efectos de los fármacos , Modelos Animales de Enfermedad , Ratas Sprague-Dawley
3.
JAMA Netw Open ; 7(6): e2415084, 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38837156

RESUMEN

Importance: Global developmental delay (GDD) is characterized by a complex etiology, diverse phenotypes, and high individual heterogeneity, presenting challenges for early clinical etiologic diagnosis. Cognitive impairment is the core symptom, and despite the pivotal role of genetic factors in GDD development, the understanding of them remains limited. Objectives: To assess the utility of genetic detection in patients with GDD and to examine the potential molecular pathogenesis of GDD to identify targets for early intervention. Design, Setting, and Participants: This multicenter, prospective cohort study enrolled patients aged 12 to 60 months with GDD from 6 centers in China from July 4, 2020, to August 31, 2023. Participants underwent trio whole exome sequencing (trio-WES) coupled with copy number variation sequencing (CNV-seq). Bioinformatics analysis was used to unravel pathogenesis and identify therapeutic targets. Main Outcomes and Measures: The main outcomes of this study involved enhancing the rate of positive genetic diagnosis for GDD, broadening the scope of genetic testing indications, and investigating the underlying pathogenesis. The classification of children into levels of cognitive impairment was based on the developmental quotient assessed using the Gesell scale. Results: The study encompassed 434 patients with GDD (262 [60%] male; mean [SD] age, 25.75 [13.24] months) with diverse degrees of cognitive impairment: mild (98 [23%]), moderate (141 [32%]), severe (122 [28%]), and profound (73 [17%]). The combined use of trio-WES and CNV-seq resulted in a 61% positive detection rate. Craniofacial abnormalities (odds ratio [OR], 2.27; 95% CI, 1.45-3.56), moderate or severe cognitive impairment (OR, 1.69; 95% CI, 1.05-2.70), and age between 12 and 24 months (OR, 1.57; 95% CI, 1.05-2.35) were associated with a higher risk of carrying genetic variants. Additionally, bioinformatics analysis suggested that genetic variants may induce alterations in brain development and function, which may give rise to cognitive impairment. Moreover, an association was found between the dopaminergic pathway and cognitive impairment. Conclusions and Relevance: In this cohort study of patients with GDD, combining trio-WES with CNV-seq was a demonstrable, instrumental strategy for advancing the diagnosis of GDD. The close association among genetic variations, brain development, and clinical phenotypes contributed valuable insights into the pathogenesis of GDD. Notably, the dopaminergic pathway emerged as a promising focal point for potential targets in future precision medical interventions for GDD.


Asunto(s)
Discapacidades del Desarrollo , Pruebas Genéticas , Humanos , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/diagnóstico , Masculino , Femenino , Preescolar , Pruebas Genéticas/métodos , Pruebas Genéticas/estadística & datos numéricos , Lactante , Estudios Prospectivos , Secuenciación del Exoma/métodos , China/epidemiología , Variaciones en el Número de Copia de ADN/genética , Disfunción Cognitiva/genética , Disfunción Cognitiva/diagnóstico
4.
Noise Health ; 26(121): 231-234, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38904828

RESUMEN

BACKGROUND: Otitis media (OM) refers to a common clinical ear disease. Noise seriously damages human hearing function. This study aimed to investigate the effects of various noise types on the hearing function of patients who have recovered from mild OM. MATERIALS AND METHODS: A total of 160 patients with mild OM treated at our hospital from May 2020 to May 2023 were retrospectively selected for this study. Based on clinical data, the patients were divided into the non-noise group (n = 80) and the noise (n = 80) group. The hearing thresholds of the two groups were compared across various noise types at 500, 1000, and 2000 Hz. In addition, the hearing thresholds of the noise group were compared under the same conditions. RESULTS: The noise group exhibited significantly higher hearing thresholds at 500, 1000, and 2000 Hz than the non-noise group (P < 0.05). Under traffic, urban construction, and industrial noises, the auditory thresholds at 500, 1000, and 2000 Hz in the noise group were significantly higher than those observed under domestic and speech noises (P < 0.05). CONCLUSION: Noise shows a close relationship with the hearing function of patients with OM. Traffic, urban construction, and industrial noises greatly influence the hearing function of patients who have recovered from mild OM.


Asunto(s)
Umbral Auditivo , Ruido , Otitis Media , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Ruido/efectos adversos , Pérdida Auditiva Provocada por Ruido/etiología , Anciano
5.
Comput Struct Biotechnol J ; 23: 2067-2075, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38800635

RESUMEN

Protein level of Histo-Blood Group ABO System Transferase (BGAT) has been reported to be associated with cardiometabolic diseases. But its effect on pregnancy related outcomes still remains unclear. Here we conducted a two-sample Mendelian randomization (MR) study to ascertain the putative causal roles of protein levels of BGAT in pregnancy related outcomes. Cis-acting protein quantitative trait loci (pQTLs) robustly associated with protein level of BGAT (P < 5 ×10-8) were used as instruments to proxy the BGAT protein level (N = 35,559, data from deCODE), with two additional pQTL datasets from Fenland (N = 10,708) and INTERVAL (N = 3301) used as validation exposures. Ten pregnancy related diseases and complications were selected as outcomes. We observed that a higher protein level of BGAT showed a putative causal effect on venous complications and haemorrhoids in pregnancy (VH) (odds ratio [OR]=1.19, 95% confidence interval [95% CI]=1.12-1.27, colocalization probability=91%), which was validated by using pQTLs from Fenland and INTERVAL. The Mendelian randomization results further showed effects of the BGAT protein on gestational hypertension (GH) (OR=0.97, 95% CI=0.96-0.99), despite little colocalization evidence to support it. Sensitivity analyses, including proteome-wide Mendelian randomization of the cis-acting BGAT pQTLs, showed little evidence of horizontal pleiotropy. Correctively, our study prioritised BGAT as a putative causal protein for venous complications and haemorrhoids in pregnancy. Future epidemiology and clinical studies are needed to investigate whether BGAT can be considered as a drug target to prevent adverse pregnancy outcomes.

6.
Int J Mol Sci ; 25(6)2024 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-38542234

RESUMEN

Fiber diameter is an important characteristic that determines the quality and economic value of rabbit wool. This study aimed to investigate the genetic determinants of wool fiber diameter through an integration analysis using transcriptomic and proteomic datasets from hair follicles of coarse and fine wool from Angora rabbits. Using a 4D label-free technique, we identified 423 differentially expressed proteins (DEPs) in hair follicles of coarse and fine wool in Angora rabbits. Eighteen DEPs were examined using parallel reaction monitoring, which verified the reliability of our proteomic data. Functional enrichment analysis revealed that a set of biological processes and signaling pathways related to wool growth and hair diameter were strongly enriched by DEPs with fold changes greater than two, such as keratinocyte differentiation, skin development, epidermal and epithelial cell differentiation, epidermis and epithelium development, keratinization, and estrogen signaling pathway. Association analysis and protein-protein interaction network analysis further showed that the keratin (KRT) family members, including KRT77, KRT82, KRT72, KRT32, and KRT10, as well as CASP14 and CDSN, might be key factors contributing to differences in fiber diameter. Our results identified DEPs in hair follicles of coarse and fine wool and promoted understanding of the molecular mechanisms underlying wool fiber diameter variation among Angora rabbits.


Asunto(s)
Folículo Piloso , Transcriptoma , Animales , Conejos , Folículo Piloso/metabolismo , Fibra de Lana , Proteoma/genética , Proteoma/metabolismo , Proteómica , Reproducibilidad de los Resultados , Lana/fisiología
7.
Adv Mater ; 36(24): e2313500, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38472160

RESUMEN

The pursuit of high energy density batteries has expedited the fast development of Ni-rich cathodes. However, the chemo-mechanical degradation induced by local thermal accumulation and anisotropic lattice strain is posing great obstacles for its wide applications. Herein, a highly-antioxidative BaZrO3 thermal barrier engineered LiNi0.8Co0.1Mn0.1O2 cathode through an in situ construction strategy is first reported to circumvent the above issues. It is found that the Zr ions are incorporated to Ni-rich material lattice and influence on the topotactic lithiation as well as enhance the oxygen electronegativity through the rigid Zr─O bonds, which effectively alleviates the lattice strain propagation and decreases the excessive oxidization of lattice oxygen for charge compensation. More importantly, the BaZrO3 thermal barrier with an ultra-low thermal conductivity validly impedes the fast heat exchange between electrode and electrolyte to mitigate the severe surface side reactions. This helps an ultra-high mass loading Li-ion pouch cell deliver a specific energy density of 690 Wh kg-1 at active material level and an excellent capacity retention of 92.5% after 1400 cycles under 1 C at 25 °C. Tested at a high temperature of 55 °C, the pouch type full-cell also exhibits 88.7% in capacity retention after 1200 cycles.

8.
BMC Ophthalmol ; 24(1): 141, 2024 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-38549070

RESUMEN

PURPOSE: In the present study, we aimed to evaluate the efficacy of the bandage contact lens (BCLs) in the treatment of dry eye disease (DED) after complicated cataract or/and intraocular lens (IOL) surgery. METHODS: In this retrospective, single-centered, observational study, we collected data from 69 patients who underwent complicated cataract or/and IOL surgery. Of these, 35 cases wore their own BCLs immediately after the operation, while the other 34 cases did not have their own BCLs and were instead covered with gauze. The Ocular Surface Disease Index (OSDI) questionnaire, slit-lamp microscope examination, keratograph analysis, and Schirmer I test were measured at baseline, 1 week and 1 month postoperatively. RESULTS: In the BCL group, the score of the OSDI questionnaire was significantly decreased at 1 week and 1 month postoperatively compared with baseline levels (P = 0.000, collectively). Moreover, the fluorescein staining score of the BCL group was remarkably decreased 1-week and 1-month postoperatively compared with the non-BCL group (P = 0.000 and P = 0.000, respectively). Furthermore, the redness score of the BCL group was also better compared with the non-BCL group at 1 week and 1 month postoperatively (P = 0.014 and P = 0.004, respectively). CONCLUSIONS: Complicated cataract or/and IOL surgery would intensify the DED. Early application of BCLs postoperatively improved patients' comfort and alleviated dry eye-related symptoms and signs. Furthermore, this mechanism might involve the acceleration of corneal epithelial healing, the alleviation of ocular stress response and the stabilization of the tear film. TRIAL REGISTRATION: Trial registration ClinicalTrials, NCT04120389. Registered 10 October 2019-retrospectively registered.


Asunto(s)
Catarata , Lentes de Contacto Hidrofílicos , Síndromes de Ojo Seco , Lentes Intraoculares , Humanos , Estudios Retrospectivos , Lentes Intraoculares/efectos adversos , Catarata/complicaciones , Síndromes de Ojo Seco/etiología , Síndromes de Ojo Seco/diagnóstico , Lentes de Contacto Hidrofílicos/efectos adversos , Vendajes/efectos adversos
9.
ACS Nano ; 18(9): 7311-7323, 2024 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-38407046

RESUMEN

Rechargeable aqueous zinc-ion batteries (AZIBs) have been highly desired due to their low cost, intrinsic safety, environmental friendliness, and great potential in large-scale power storage systems. However, their practical applications are impeded by unstable long-term electrochemical performances induced by microstructure degradation of the cathode material, hydrogen evolution reaction in the electrolyte, and dendritic growth on the zinc anode upon cycling. In this work, rubidium cations (Rb+) are introduced to synthesize an Rb+-preintercalated NH4V4O10 (NVO-Rb) composite. The contribution of Rb+ ions as pillars in V-O interlayers to facilitating Zn2+ storage is investigated first, and then the influences of partial Rb+ ions from the NVO-Rb cathode on the aqueous electrolyte and zinc anode are specially inspected from different viewpoints. Based on a series of characterization results, it is comprehensively elucidated that the partial Rb+ ions into the electrolyte suppress the generation of byproducts on the cathode and regulate the dendrite growth on the zinc anode, thus effectively promoting the long-term electrochemical performances of NVO-based AZIBs. The assembled Zn∥Zn(CF3SO3)2∥NVO-Rb cell can exhibit a high specific capacity and optimized Zn2+ diffusion kinetics, especially an improved electrochemical cyclability with a capacity retention of 87.6% at 5 A g-1 over 10000 cycles. This study enlightens the multiple roles of cation-preintercalation in the layered structure material and provides a feasible strategy for the development of high-performance aqueous batteries.

10.
Int J Neuropsychopharmacol ; 27(1)2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38135278

RESUMEN

BACKGROUND: Melanin-concentrating hormone (MCH) is a hypothalamic neuropeptide that projects throughout the central nervous system, including the noradrenergic locus coeruleus (LC). Our previous study suggested that MCH/MCH receptor 1 (MCHR1) in the LC may be involved in the regulation of depression. The present study investigated whether the role of MCH/MCHR1 in the LC in depression-like behaviors is associated with the regulation of norepinephrine. METHOD: Chronic unpredictable stress (CUS) and an acute intra-LC microinjection of MCH induced depression-like behaviors in rats. The MCHR1 antagonist SNAP-94847 was also microinjected in the LC in rats that were suffering CUS or treated with MCH. The sucrose preference, forced swim, and locomotor tests were used for behavioral evaluation. Immunofluorescence staining, enzyme-linked immunosorbent assay, western blot, and high-performance liquid chromatography with electrochemical detection were used to explore the mechanism of MCH/MCHR1 in the regulation of depression-like behaviors. RESULTS: CUS induced an abnormal elevation of MCH levels and downregulated MCHR1 in the LC, which was highly correlated with the formation of depression-like behaviors. SNAP-94847 exerted antidepressant effects in CUS-exposed rats by normalizing tyrosine hydroxylase, dopamine ß hydroxylase, and norepinephrine in the LC. An acute microinjection of MCH induced depression-like behaviors through its action on MCHR1. MCHR1 antagonism in the LC significantly reversed the MCH-induced downregulation of norepinephrine production by normalizing MCHR1-medicated cAMP-PKA signaling. CONCLUSIONS: Our study confirmed that the MCH/MCHR1 system in the LC may be involved in depression-like behaviors by downregulating norepinephrine production. These results improve our understanding of the pathogenesis of depression that is related to the MCH/MCHR1 system in the LC.


Asunto(s)
Hormonas Hipotalámicas , Locus Coeruleus , Ratas , Animales , Depresión/inducido químicamente , Depresión/tratamiento farmacológico , Norepinefrina , Hormonas Hipotalámicas/metabolismo , Hormonas Hipofisarias/farmacología , Melaninas/farmacología
11.
Front Genet ; 14: 1247048, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37937196

RESUMEN

Introduction: Feed efficiency is an important economic trait in rabbit meat production. The identification of molecular mechanisms and candidate genes for feed efficiency may improve the economic and environmental benefits of the rabbit meat industry. As an alternative to the conventional feed conversion ratio, residual feed intake (RFI) can be used as an accurate indicator of feed efficiency. Methods: RNA sequencing was used to identify the differentially expressed genes (DEGs) in the M. longissimus thoracis et lumborum of eight Wannan Yellow rabbits with excessively high or low RFIs (HRFI or LRFI, respectively). Thereafter, Gene Ontology (GO) analysis, enrichment using the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, gene set enrichment analysis (GSEA), and protein-protein interaction (PPI) network analysis was conducted. Results: In total, 445 DEGs were identified in the M. longissimus thoracis et lumborum of rabbits with high and low RFIs. The significantly enriched GO terms identified in these two groups were primarily involved in energy and mitochondrial metabolism and oxidation-reduction processes. KEGG analysis identified 11 significantly enriched pathways, including oxidative phosphorylation, PI3K-Akt signaling, and extracellular matrix-receptor interaction pathways. According to GSEA, the expressions of genes and pathways related to mitochondrial function were upregulated in HRFI rabbits, whereas genes with upregulated expressions in LRFI rabbits were related to immune response and energy metabolism. Additionally, PPI network analysis revealed five potential candidate genetic markers. Conclusion: Comparative analysis of the M. longissimus thoracis et lumborum transcriptomes in HRFI and LRFI rabbits revealed FOS, MYC, PRKACB, ITGA2, and FN1 as potential candidate genes that affect feed efficiency in rabbits. In addition, key signaling pathways involved in oxidative phosphorylation and PI3K-Akt and ECM-receptor interaction signaling impact rabbit feed efficiency. These findings will aid in breeding programs to improve feed efficiency and optimize RFI selection of rabbits for meat production.

12.
eNeuro ; 10(11)2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37989582

RESUMEN

Chronic stress has been considered to induce depressive symptoms, such as anhedonia, particularly in susceptible individuals. Synaptic plasticity in the prefrontal cortex (PFC) is closely associated with susceptibility or resilience to chronic stress-induced anhedonia. However, effects of chronic stress with different durations on the neurobiological mechanisms that underlie susceptibility to anhedonia remain unclear. The present study investigated effects of chronic mild stress (CMS) for 14, 21, and 35 d on anhedonia-like behavior and glutamate synapses in the PFC. We found that brain-derived neurotrophic factor (BDNF) levels in the PFC significantly decreased only in anhedonia-susceptible rats that were exposed to CMS for 14, 21, and 35 d. Additionally, 14 d of CMS increased prefrontal glutamate release, and 35 d of CMS decreased glutamate release, in addition to reducing synaptic proteins and spine density in the PFC. Moreover, we found that anhedonia-like behavior in a subset of rats spontaneously decreased, accompanied by the restoration of BDNF levels and glutamate release, on day 21 of CMS. Ketamine treatment restored the reduction of BDNF levels and biphasic changes in glutamate release that were induced by CMS. Our findings revealed a progressive reduction of synaptic plasticity and biphasic changes in glutamate release in the PFC during CMS. Reductions of BDNF levels may be key neurobiological markers of susceptibility to stress-induced anhedonia.


Asunto(s)
Anhedonia , Factor Neurotrófico Derivado del Encéfalo , Ratas , Animales , Factor Neurotrófico Derivado del Encéfalo/metabolismo , Ácido Glutámico/metabolismo , Ratas Wistar , Corteza Prefrontal/metabolismo , Estrés Psicológico/complicaciones
13.
Phys Chem Chem Phys ; 25(43): 29709-29717, 2023 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-37882724

RESUMEN

Metal chalcogenides are a special class of semiconducting materials characterized by their rich structures and compositions, making them a promising option for a broad range of applications in the field of inorganic chemistry. However, the path forward is not without its challenges, notably in the realms of interface management and enhancing carrier concentration. To address these issues, we solvothermally synthesized two novel chalcogenidoantimonates [Zn(tren)]2Sb2Se5 (1) [tren = tris (2-aminoethyl) amine] and [Zn(tepa)H]2Sb2S6 (2) (tepa = tetraethylenepentamine) utilizing transition metal Zn by band gap optimization strategy in the visible region. Both compounds exhibited distinct zero-dimensional cluster structures, with transition metal complex cations acting as structure-directing agents. A comprehensive analysis of the electronic structure, band gap, and photocurrent response of these crystals was undertaken, revealing significantly enhanced photocatalytic properties compared to preceding studies. This research underscores the potential of antimony chalcogenides in the realm of photoelectric properties and promotes the applications of chalcogenides.

14.
ACS Appl Mater Interfaces ; 15(28): 33703-33711, 2023 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-37424078

RESUMEN

As promising cathode candidates with advantageous capacity and price superiority for lithium-ion batteries, Ni-rich materials are severely impeded in the practical application due to their poor microstructural stability induced by the intrinsic Li+/Ni2+ cation mixing and mechanical stress accumulation upon cycling. In this work, a synergetic approach is demonstrated to improve the microstructural and thermal stabilities of Ni-rich LiNi0.6Co0.2Mn0.2O2 (NCM622) cathode material through taking advantage of the thermal expansion offset effect of the LiZr2(PO4)3 (LZPO) modification layer. The optimized NCM622@LZPO cathode exhibits a significantly enhanced cyclability with a capacity retention of 67.7% after 500 cycles at 0.2 C and delivers a specific capacity of 115 mAh g-1 with a capacity retention of 64.2% after 300 cycles under 55 °C. Exploiting the chemical environment analysis of the Ni element detected by the synchrotron radiation technique, it is found that the mixing degree of Li+/Ni2+ cations in the bulk Ni-rich material can be effectively depressed through interfacial Zr4+ doping during the preparation of the LZPO-modified material. Additionally, time- and temperature-dependent powder diffraction spectra were collected to monitor the structure evolutions of pristine NCM622 and NCM622@LZPO cathodes in the initial cycles and under various temperatures, revealing the contribution of negative thermal expansion LZPO coating in promoting microstructural stability of the bulk NCM622 cathode. The introduction of NTE functional compounds might provide a universal strategy to address the stress accumulation and volume expansion issues of various cathode materials for advanced secondary-ion batteries.

15.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(5): 497-501, 2023 May 15.
Artículo en Chino | MEDLINE | ID: mdl-37272176

RESUMEN

OBJECTIVES: To study the clinical and genetic features of Joubert syndrome (JS) in children. METHODS: A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022. RESULTS: Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes. CONCLUSIONS: For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.


Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Masculino , Femenino , Humanos , Niño , Cerebelo , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/genética , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Retina , Estudios Retrospectivos , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/genética
17.
PeerJ ; 11: e15112, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37065702

RESUMEN

Heat stress causes infertility in male rabbits in summer. This study was conducted to determine the effects of heat stress on semen quality and seminal plasma metabolites of male rabbits. To achieve these objectives, the temperature and humidity index (THI) was used to determine the stress state of male rabbits during different months, thereby the rabbits were divided into heat stress and no heat stress groups. The quality of the semen and the biochemical indices of seminal plasma were then analyzed. Next the plasma metabolites of rabbits in both groups were evaluated using the ultra-high performance liquid chromatography-mass spectroscopy (UPLC-MS)/MS technique. Our results showed that the THI value of the rabbit housing in May was 20.94 (no heat stress). The THI value of the housing in August was 29.10 (heat stress group, n = 10). Compared with the non-heat stress group, the sperm motility, density, and pH in the heat stress group (n = 10) were significantly decreased (P < 0.01); the semen volume decreased significantly (P < 0.05); and the sperm malformation rate increased significantly (P < 0.01). The number of grade A sperm significantly decreased, while the numbers of B and C grade sperm significantly increased (P < 0.01). The total sperm output (TSO), total motile sperm (TMS), and total functional sperm fraction (TFSF) decreased significantly (P < 0.01). Heat stress protein 70 (HSP70) and acid phosphatase (ACP) in the seminal plasma of rabbits in the heat stress group (n = 20) were significantly increased (P < 0.01). Seminal plasma testosterone (T), α-glucosidase (α-Glu), and fructose decreased significantly (P < 0.01). The concentrations of Mg2+ (P < 0.05), Na+ (P < 0.01), and K+ (P < 0.01) in metal ions were significantly decreased. These findings indicated that heat stress severely affected the quality of the male rabbit semen. Furthermore, UPLC-MS/MS technology was used to analyze the seminal plasma samples of rabbits in the heat stress group and non-heat stress group (n = 9 for each group). In total, 346 metabolites were identified, with variable importance in project (VIP) > 1.0, fold change (FC) > 1.5 or < 0.667, and P < 0.05 as the threshold. A total of 71 differential metabolites were matched, including stearic acid, betaine, arachidonic acid, L-malic acid, and indole. The Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis of differential metabolites revealed 51 metabolic pathways, including synthesis and degradation of ketones, serine and threonine metabolism, tryptophan metabolism, and the citric acid cycle. Our study has shown that the sperm motility, sperm pH value, and sperm density of male rabbits decreased significantly under heat stress, and the sperm malformation rate increased significantly. Furthermore, the quality of semen was shown to deteriorate and the energy metabolism pathway was disturbed. These findings provide a theoretical reference for alleviating the adaptive heat stress in male rabbits.


Asunto(s)
Análisis de Semen , Semen , Animales , Masculino , Conejos , Semen/química , Análisis de Semen/veterinaria , Cromatografía Liquida , Motilidad Espermática , Espectrometría de Masas en Tándem
18.
Biology (Basel) ; 12(3)2023 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-36979137

RESUMEN

Wool fiber diameter (WFD) is an important index of wool traits and the main determinant of wool quality and value. However, the genetic determinants of fiber diameter have not yet been fully elucidated. Here, coarse and fine wool of Wan strain Angora rabbits and their hair follicle traits were characterized. The results indicated significant differences in the diameters of wool fibers and their hair follicles. The RNA sequencing (RNA-Seq) technique was used to identify differences in gene expression in hair follicles between coarse and fine wool. In total, 2574 differentially expressed genes (DEGs) were found between the two hair follicle groups. Transcription factors, keratin-associated protein (KAP) and keratin (KRT) families, and ECM-related genes may control the structure of fine fibers in rabbits. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses revealed that skin development, epidermal cell and keratinocyte differentiation, epithelium development, and Notch and ribosome signaling pathways were significantly enriched, respectively. GSEA further filtered six important pathways and related core genes. PPI analysis also mined functional DEGs associated with hair structure, including LEF1, FZD3, SMAD3, ITGB6, and BMP4. Our findings provide valuable information for researching the molecular mechanisms regulating wool fiber and could facilitate enhanced selection of super-fine wool rabbits through gene-assisted selection in the future.

19.
J Colloid Interface Sci ; 640: 1005-1014, 2023 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-36913834

RESUMEN

With high specific energy density, Ni-rich layered LiNi0.8Co0.1Mn0.1O2 (NCM) material has become one promising cathode candidate for advanced lithium-ion batteries (LIBs). However, severe capacity fading induced by microstructure degradation and deteriorated interfacial Li+ transportation upon repeated cycling makes the commercial application of NCM cathode in dilemma. To address these issues, LiAlSiO4 (LASO), one unique negative thermal expansion (NTE) composite with high ionic conductivity, is utilized as a coating layer to improve the electrochemical performances of NCM material. Various characterizations demonstrate that LASO modification can endow NCM cathode with significantly enhanced long-term cyclability, through reinforcing the reversibility of phase transition and restraining lattice expansion, as well as depressing microcrack generation during repeated delithiation-lithiation processes. The electrochemical results indicate that LASO-modified NCM cathode can deliver an excellent rate capability of 136 mAh g-1 at a high current rate of 10 C (1800 mA g-1), larger than that of the pristine cathode (118 mAh g-1), especially higher capacity retention of 85.4% concerning the pristine NCM cathode (65.7%) over 500 cycles under 0.2 C. This work provides a feasible strategy to ameliorate the interfacial Li+ diffusion and suppress the microstructure degradation of NCM material during long-term cycling, which can effectively promote the practical application of Ni-rich cathode in high-performance LIBs.

20.
Nanoscale ; 15(2): 588-598, 2023 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-36484351

RESUMEN

With large specific capacity, wide voltage window, and high energy density, Li-rich layered oxides have been considered as a promising cathode candidate for advanced lithium-ion batteries (LIBs). However, their commercial application is challenging due to severe capacity degradation and voltage fading caused by irreversible oxygen evolution and phase transition upon repeated cycling. This work proposes an effective strategy to improve the long-term electrochemical performances of Li1.2Mn0.56Ni0.17Co0.07O2 (LMNCO) by constructing multifunctional nanolayers composed of element-doping, layered-spinel heterostructural connection, and fast ion conductor shell via a facile method. The Li0.09B0.97PO4 (LBPO) coating shell acts as a fast ion carrier and physical screen to promote Li+ diffusion and isolate side reactions at the cathode-electrolyte interface; moreover, two-phase transitional region provides three-dimensional channel to facilitate Li+ transport and inhibit phase transition. Besides, B3+ and PO43--doping collaborates with oxygen vacancies to stabilize lattice oxygen and restrain oxygen evolution from the bulk active cathode. The optimized LMNCO@LBPO material exhibits a superior capacity retention of 78.6%, higher than that of the pristine sample (49.3%), with the mitigated voltage fading of 0.73 mV per cycle after 500 cycles at 1 C. This study opens up an avenue for the surface modification to the electrochemical properties and perspective application of Li-rich cathodes in high-performance LIBs.

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