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1.
Front Pediatr ; 12: 1367305, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38813542

RESUMEN

Tubulin plays an essential role in cortical development, and TUBA1A encodes a major neuronal α-tubulin. Neonatal mutations in TUBA1A are associated with severe brain malformations, and approximately 70% of patients with reported cases of TUBA1A mutations exhibit lissencephaly. We report the case of a 1-year-old boy with the TUBA1A nascent mutation c.1204C >T, p.Arg402Cys, resulting in lissencephaly, developmental delay, and seizures, with a brain MRI showing normal cortical formation in the bilateral frontal lobes, smooth temporo-parieto-occipital gyri and shallow sulcus. This case has not been described in any previous report; thus, the present case provides new insights into the broad disease phenotype and diagnosis associated with TUBA1A mutations. In addition, we have summarized the gene mutation sites, neuroradiological findings, and clinical details of cases previously described in the literature and discussed the differences that exist between individual cases of TUBA1A mutations through a longitudinal comparative analysis of similar cases. The complexity of the disease is revealed, and the importance of confirming the genetic diagnosis from the beginning of the disease is emphasized, which can effectively shorten the diagnostic delay and help clinicians provide genetic and therapeutic counseling.

2.
Zhongguo Zhong Yao Za Zhi ; 49(6): 1699-1704, 2024 Mar.
Artículo en Chino | MEDLINE | ID: mdl-38621954

RESUMEN

The quality of traditional Chinese medicine preparations is directly related to the safety of patients. Among the various factors, the process and corresponding critical equipment are critical factors influencing the quality of the preparations. To improve the quality of traditional Chinese medicine preparations, this article summarizes and analyzes the problems in the process links and corresponding critical equipment in the manufacturing process of traditional Chinese medicine preparations. Furthermore, a critical quality attribute evaluation system is established based on safety and effectiveness combined with the drug properties, preparation process, and preparation characteristics, providing a basis for the process and equipment improvements aimed at quality enhancement.


Asunto(s)
Medicamentos Herbarios Chinos , Medicina Tradicional China , Humanos , Control de Calidad , Comercio
3.
Nat Commun ; 15(1): 3208, 2024 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-38615045

RESUMEN

Investigations of one-dimensional segmented heteronanostructures (1D-SHs) have recently attracted much attention due to their potentials for applications resulting from their structure and synergistic effects between compositions and interfaces. Unfortunately, developing a simple, versatile and controlled synthetic method to fabricate 1D-SHs is still a challenge. Here we demonstrate a stress-induced axial ordering mechanism to describe the synthesis of 1D-SHs by a general under-stoichiometric reaction strategy. Using the continuum phase-field simulations, we elaborate a three-stage evolution process of the regular segment alternations. This strategy, accompanied by easy chemical post-transformations, enables to synthesize 25 1D-SHs, including 17 nanowire-nanowire and 8 nanowire-nanotube nanostructures with 13 elements (Ag, Te, Cu, Pt, Pb, Cd, Sb, Se, Bi, Rh, Ir, Ru, Zn) involved. This ordering evolution-driven synthesis will help to investigate the ordering reconstruction and potential applications of 1D-SHs.

4.
Exp Ther Med ; 27(5): 206, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38590578

RESUMEN

Essential tremor (ET) and Parkinson's disease (PD) are common chronic movement disorders that can cause a substantial degree of disability. However, the etiology underlying these two conditions remains poorly understood. In the present study, Whole-exome sequencing of peripheral blood samples from the proband and Sanger sequencing of the other 18 family members, and pedigree analysis of four generations of 29 individuals with both ET and PD in a nonconsanguineous Chinese family were performed. Specifically, family members who had available medical information, including historical documentation and physical examination records, were included. A novel c.1909A>T (p.Ser637Cys) missense mutation was identified in the eukaryotic translation initiation factor 4γ1 (EIF4G1) gene as the candidate likely responsible for both conditions. In total, 9 family members exhibited tremor of the bilateral upper limbs and/or head starting from ages of ≥40 years, 3 of whom began showing evidence of PD in their 70s. Eukaryotic initiation factor 4 (eIF4)G1, a component of the translation initiation complex eIF4F, serves as a scaffold protein that interacts with many initiation factors and then binds to the 40S ribosomal subunit. The EIF4G1 (p.Ser637Cys) might inhibit the recruitment of the mRNA to the ribosome. In conclusion, the results from the present study suggested that EIF4G1 may be responsible for the hereditary PD with 'antecedent ET' reported in the family assessed.

5.
J Org Chem ; 89(10): 6749-6758, 2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38688007

RESUMEN

Disclosed herein is a rhodium(III)-catalyzed direct heteroarylation reaction between unactivated aliphatic C(sp3)-H bonds in 2-alkylpyridines and heteroaryl organoboron reagents. This catalytic protocol is compatible with various heterocyclic boronates containing ortho- and meta-pyridine, pyrazoles, furan, and quinoline with strong coordination capability. The achievement of this methodology provides an efficient route to build new C(sp3)-heteroaryl bonds.

6.
Mol Biol Rep ; 51(1): 386, 2024 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-38441676

RESUMEN

BACKGROUND: There was significant difference in muscle development between fat-type and lean-type pig breeds. METHODS AND RESULTS: In current study, transcriptome analysis and bioinformatics analysis were used to compare the difference in longissimus dorsi (LD) muscle at three time-points (38 days post coitus (dpc), 58 dpc, and 78 dpc ) between Huainan (HN) and Large white (LW) pig breeds. A total of 24500 transcripts were obtained in 18 samples, and 2319, 2799, and 3713 differently expressed genes (DEGs) were identified between these two breeds at 38 dpc, 58 dpc, and 78 dpc, respectively. And the number and foldchange of DEGs were increased, the alternative splice also increased. The cluster analysis of DEGs indicated the embryonic development progress of LD muscle between these two breeds was different. There were 539 shared DEGs between HN and LW at three stages, and the top-shared DEGs were associated with muscle development and lipid deposition, such as KLF4, NR4A1, HSP70, ZBTB16 and so on. CONCLUSIONS: The results showed DEGs between Huainan (HN) and Large white (LW) pig breeds, and contributed to the understanding the muscle development difference between HN and LW, and provided basic materials for improvement of meat quality.


Asunto(s)
Biología Computacional , Perfilación de la Expresión Génica , Femenino , Embarazo , Porcinos/genética , Animales , Análisis por Conglomerados , Desarrollo Embrionario , Obesidad , Vitaminas
7.
J Cell Mol Med ; 28(8): e18244, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38520211

RESUMEN

To explore the mechanism of tripartite motif 52 (TRIM52) in the progression of temporomandibular joint osteoarthritis (TMJOA). Gene and protein expression were tested by quantitative real-time polymerase chain reaction and western blot, respectively. The levels of pro-inflammatory cytokines and oxidative stress factors were evaluated using enzyme-linked immunosorbent assay and biochemical kit, respectively. Cell counting kit-8 and 5-ethynyl-2'-deoxyuridine assays were carried out to assess cell proliferation. Immunofluorescence was used to detect the expression of CD68 and Vimentin in primary synovial fibroblasts (SFs). Haematoxylin and eosin staining and Safranin O/Fast green were used to evaluate the pathological damage of synovial and cartilage tissue in rats. TRIM52 was upregulated in the synovial tissue and SFs in patients with TMJOA. Interleukin (IL)-1ß treatment upregulated TRIM52 expression in TMJOA SFs and normal SF (NSF), promoting cell proliferation, inflammatory response and oxidative stress in NSF, SFs. Silence of TRIM52 relieved the cell proliferation, inflammatory response and oxidative stress induced by IL-1ß in SFs, while overexpression of TRIM52 enhanced IL-1ß induction. Meanwhile, IL-1ß induction activated toll-like receptor 4 (TLR4)/nuclear factor (NF)-κB pathway, which was augmented by upregulation of TRIM52 in NSF, and was attenuated by TRIM52 knockdown in SFs. Besides, pyrrolidinedithiocarbamic acid ameliorated IL-1ß-induced proliferation and inflammatory response by inhibiting TLR4/NF-κB signalling. Meanwhile, TRIM52 knockdown inhibited cell proliferation, oxidative stress and inflammatory response in IL-1ß-induced SFs through downregulation of TLR4. TRIM52 promoted cell proliferation, inflammatory response, and oxidative stress in IL-1ß-induced SFs. The above functions were mediated by the activation of TLR4/NF- κB signal pathway.


Asunto(s)
Osteoartritis , Receptor Toll-Like 4 , Animales , Humanos , Ratas , Proliferación Celular , Fibroblastos/metabolismo , Interleucina-1beta/metabolismo , FN-kappa B/metabolismo , Osteoartritis/genética , Osteoartritis/metabolismo , Estrés Oxidativo , Articulación Temporomandibular/metabolismo , Receptor Toll-Like 4/genética , Receptor Toll-Like 4/metabolismo
8.
Food Funct ; 15(6): 2920-2938, 2024 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-38385354

RESUMEN

Parkinson's disease (PD) is a common, chronic, and progressive degenerative disease of the central nervous system for which there is no effective treatment. Gastrodia elata is a well-known food and medicine homologous resource with neuroprotective potential. Gastrodia elata polysaccharide (GEP), which is a highly active and safe component in Gastrodia elata, is an important ingredient in the development of functional products. In this study, GEP was administered to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced mice over 3 weeks to investigate its neuroprotective effects. The results showed that GEP significantly alleviated the motor dysfunction of PD mice, inhibited the accumulation of α-synuclein, and reduced the loss of dopaminergic neurons in the brain. Moreover, GEP increased the Bcl-2/Bax ratio and decreased the cleaved-caspase-3 level, suggesting that GEP may ameliorate PD by preventing MPTP-induced mitochondrial apoptosis. GEP also significantly inhibited the increase of GFAP and decreased the levels of TNF-α, IL-1ß, and IL-6 in the brain of PD mice, which may be the result of the inhibition of neuroinflammation by the inactivation of the TLR4/NF-κB pathway. Furthermore, the neuroprotective effects of GEP involve the gut-brain axis, as it has been shown that GEP regulated the dysbiosis of PD-related gut microbiota such as Akkermansia, Lactobacillus, Bacteroides, Prevotella, and Faecalibacterium, increased the content of microbial metabolites SCFAs in the colon and increased the level of occludin that repairs the intestinal barrier of PD mice. In conclusion, this study is expected to provide a theoretical basis for the development and application of functional products with GEP from the perspective of neuroprotective effects.


Asunto(s)
Gastrodia , Microbioma Gastrointestinal , Fármacos Neuroprotectores , Enfermedad de Parkinson , Ratones , Animales , Enfermedad de Parkinson/metabolismo , Fármacos Neuroprotectores/farmacología , Transducción de Señal , Polisacáridos/farmacología
9.
World J Gastrointest Endosc ; 16(1): 1-4, 2024 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-38313459

RESUMEN

Esophageal cancer is the seventh most common type of cancer and the sixth leading cause of cancer -related mortality worldwide. Endoscopic submucosal dissection (ESD) is widely used for the resection of early esophageal cancer. However, post-ESD esophageal stricture is a common long-term complication, which requires attention. Patients with post-ESD esophageal stricture often experience dysphagia and require multiple dilatations, which greatly affects their quality of life and increases healthcare costs. Therefore, to manage post-ESD esophageal stricture, researchers are actively exploring various strategies, such as pharmaceutical interventions, endoscopic balloon dilation, and esophageal stenting. Although steroids-based therapy has achieved some success, steroids can lead to complications such as osteoporosis and infection. Meanwhile, endoscopic balloon dilatation is effective in the short term, but is prone to recurrence and perforation. Additionally, esophageal stenting can alleviate the stricture, but is associated with discomfort during stenting and the complication of easy displacement also present challenges. Tissue engineering has evolved rapidly in recent years, and hydrogel materials have good biodegradability and biocompatibility. A novel type of polyglycolic acid (PGA) sheets has been found to be effective in preventing esophageal stricture after ESD, with the advantages of a simple operation and low complication rate. PGA membranes act as a biophysical barrier to cover the wound as well as facilitate the delivery of medications to promote wound repair and healing. However, there is still a lack of multicenter, large-sample randomized controlled clinical studies focused on the treatment of post-ESD esophageal strictures with PGA membrane, which will be a promising direction for future advancements in this field.

10.
World J Clin Cases ; 12(2): 249-255, 2024 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-38313653

RESUMEN

BACKGROUND: Post-stroke epilepsy is a common and easily overlooked complication of acute cerebrovascular disease. Long-term seizures can seriously affect the prognosis and quality of life of patients. Electroencephalogram (EEG) is the simplest way to diagnose epilepsy, and plays an important role in predicting seizures and guiding medication. AIM: To explore the EEG characteristics of patients with post-stroke epilepsy and improve the detection rate of inter-seizure epileptiform discharges. METHODS: From January 2017 to June 2020, 10 patients with post-stroke epilepsy in our hospital were included. The clinical, imaging, and EEG characteristics were collected. The stroke location, seizure type, and ictal and interictal EEG manifestations of the patients with post-stroke epilepsy were then retrospectively analyzed. RESULTS: In all 10 patients, epileptiform waves occurred in the side opposite to the stroke lesion during the interictal stage; these manifested as sharp wave, sharp-wave complex, or spike discharges in the anterior head lead of the side opposite to the lesion. CONCLUSION: In EEG, epileptiform waves can occur in the side opposite to the stroke lesion in patients with post-stroke epilepsy.

11.
J Ethnopharmacol ; 325: 117768, 2024 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-38253275

RESUMEN

ETHNOPHARMACOLOGICAL RELEVANCE: Atherosclerosis (AS), a lipid-induced inflammatory condition of the arteries, is a primary contributor to atherosclerotic cardiovascular diseases including stroke. Arctium lappa L. leaf (ALL), an edible and medicinal herb in China, has been documented and commonly used for treating stroke since the ancient times. However, the elucidations on its anti-AS effects and molecular mechanism remain insufficient. AIM OF THE STUDY: To investigate the AS-ameliorating effects and the underlying mechanism of action of an ethanolic extract of leaves of Arctium lappa L. (ALLE). MATERIALS AND METHODS: ALLE was reflux extracted using with 70% ethanol. An HPLC method was established to monitor the quality of ALLE. High fat diet (HFD) and vitamin D3-induced experimental AS in rats were used to determine the in vivo effects; and oxidized low-density lipoprotein-induced RAW264.7 macrophage foam cells were used for in vitro assays. Simvatatin was used as positive control. Biochemical assays were implemented to ascertain the secretions of lipids and pro-inflammatory mediators. Haematoxylin-eosin (H&E) and Oil red O stains were employed to assess histopathological alterations and lipid accumulation conditions, respectively. CCK-8 assays were used to measure cytotoxicity. Immunoblotting assay was conducted to measure protein levels. RESULTS: ALLE treatment significantly ameliorated lipid deposition and histological abnormalities of aortas and livers in AS rats; improved the imbalances of serum lipids including total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C); notably attenuated serum concentrations of inflammation-associated cytokines/molecules including TNF-α, IL-6, IL-1ß, VCAM-1, ICAM-1and MMP-9. Mechanistic studies demonstrated that ALLE suppressed the phosphorylation/activation of PI3K, Akt and NF-κB in AS rat aortas and in cultured foam cells. Additionally, the PI3K agonist 740Y-P notably reversed the in vitro inhibitory effects of ALLE on lipid deposition, productions of TC, TNF-α and IL-6, and protein levels of molecules of PI3K/Akt and NF-κB singnaling pathways. CONCLUSIONS: ALLE ameliorates HFD- and vitamin D3-induced experimental AS by modulating lipid metabolism and inflammatory responses, and underlying mechanisms involves inhibition of the PI3K/Akt and NF-κB singnaling pathways. The findings of this study provide scientific justifications for the traditional application of ALL in managing atherosclerotic diseases.


Asunto(s)
Arctium , Aterosclerosis , Fragmentos de Péptidos , Receptores del Factor de Crecimiento Derivado de Plaquetas , Accidente Cerebrovascular , Ratas , Animales , FN-kappa B/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Transducción de Señal , Fosfatidilinositol 3-Quinasas/metabolismo , Metabolismo de los Lípidos , Factor de Necrosis Tumoral alfa/metabolismo , Interleucina-6/metabolismo , Aterosclerosis/metabolismo , Extractos Vegetales/farmacología , Extractos Vegetales/uso terapéutico , Extractos Vegetales/química , Lípidos , Colesterol/farmacología , Etanol/farmacología , Lipoproteínas LDL/metabolismo , Colecalciferol/farmacología , Colecalciferol/uso terapéutico
12.
J Org Chem ; 89(4): 2127-2137, 2024 Feb 16.
Artículo en Inglés | MEDLINE | ID: mdl-38270538

RESUMEN

The hitherto unknown hexakis(halomethyl)-functionalized tribenzotriquinacenes (TBTQs) 9 and 10 were synthesized from the key 4b,8b,12b-tribromo-TBTQ derivative 6 by an improved route in 67% overall yield. Extension of the bowl-shaped framework of 9 or 10 by threefold condensation with propargylamine or 2-azidoethylamine afforded the corresponding TBTQ-trialkyne 11 and TBTQ-triazide 12, respectively. While attempts to construct bis-TBTQ cages, including homodimerization of 11 and heterocoupling of 11 with 12, were unsuccessful, triazide 12 was found to undergo threefold [3 + 2]-cycloaddition with 3-ethynylaniline and phloroglucinol tripropargyl ether under click chemistry conditions. The latter reaction enabled facile capping of the TBTQ bowl to give the novel cage compound 5 in 22% yield.

13.
Mol Genet Genomic Med ; 12(1): e2356, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38284442

RESUMEN

BACKGROUND: Cryptic translocations can be identified via genetic analysis of aborted tissues or malformed infants, but it is difficult to deduce the parental origins of the translocations. In the absence of such information, it is not easy to distinguish translocations from normal embryos during pre-implantation genetic testing, that seeks to block familial transmission of translocations. METHODS: Here, we present a new method that detects cryptic translocations and blocks familial transmission thereof. Whole-genome, low-coverage mate-pair sequencing (WGLMPS) revealed chromosome breakpoint sequences, and preimplantation genetic haplotyping (PGH) was then used to discard embryos with cryptic translocations. RESULTS: Cryptic translocations were found in all four families, and familial transmission was successfully blocked in one family. CONCLUSION: Whole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.


Asunto(s)
Pruebas Genéticas , Translocación Genética , Humanos , Puntos de Rotura del Cromosoma , Reordenamiento Génico
14.
J Recept Signal Transduct Res ; 43(4): 93-101, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38070127

RESUMEN

PURPOSE: Current evidence suggests a high co-prevalence of hypertension and cervical cancer. Accordingly, blood pressure control is indicated during anti-tumor drug therapy in this patient population. Over the past few years, immunotherapy has made great strides in treating different cancers. However, the role and clinical significance of verapamil as a first-line anti-hypertensive drug during immunotherapy remain poorly understood, emphasizing the need for further studies. METHODS: Murine cervical cancer models were employed to assess the effect of verapamil monotherapy and combination with PD1ab. Immunohistochemistry was conducted to quantify the abundance of CD8+ T cell and Ki67+ cells. Several in-vitro and in-vivo assays were used to study the effects of verapamil and explore the preliminary mechanism. RESULTS: Monotherapy with verapamil or PD1ab immune checkpoint inhibitor significantly suppressed the growth of subcutaneously grafted U14 cells in WT BABL/c mice, respectively, with increased survival time of mice. Consistent results were observed in the melanoma model. Furthermore, we substantiated that verapamil significantly impaired tumor proliferation and migration of SiHa human cervical cancer cells in vitro and in vivo. In silico analysis using TCGA data revealed that NFAT2 expression negatively correlated with patient survival. The CCK8 assay revealed that verapamil abrogated the stimulatory effect of NFAT2 after knockdown of NFAT2. CONCLUSIONS: Our results suggest that verapamil inhibits tumor growth by modulating NFAT2 expression and enhancing tumor immune responses to PD1ab, which can be harnessed for cervical cancer therapy, especially for patients with comorbid hypertension. Indeed, further clinical trials are warranted to increase the robustness of our findings.


Asunto(s)
Antineoplásicos , Hipertensión , Neoplasias del Cuello Uterino , Femenino , Humanos , Animales , Ratones , Neoplasias del Cuello Uterino/tratamiento farmacológico , Neoplasias del Cuello Uterino/genética , Neoplasias del Cuello Uterino/metabolismo , Verapamilo/farmacología , Inhibidores de Puntos de Control Inmunológico/farmacología , Antineoplásicos/farmacología , Línea Celular Tumoral
15.
J Magn Reson Imaging ; 2023 Nov 28.
Artículo en Inglés | MEDLINE | ID: mdl-38014782

RESUMEN

Among the approximately 20 million patients with drug-resistant epilepsy (DRE) worldwide, the vast majority can benefit from surgery to minimize seizure reduction and neurological impairment. Precise preoperative localization of epileptogenic zone (EZ) and complete resection of the lesions can influence the postoperative prognosis. However, precise localization of EZ is difficult, and the structural and functional alterations in the brain caused by DRE vary by etiology. Neuroimaging has emerged as an approach to identify the seizure-inducing structural and functional changes in the brain, and magnetic resonance imaging (MRI) and positron emission tomography (PET) have become routine noninvasive imaging tools for preoperative evaluation of DRE in many epilepsy treatment centers. Multimodal neuroimaging offers unique advantages in detecting EZ, especially in improving the detection rate of patients with negative MRI or PET findings. This approach can characterize the brain imaging characteristics of patients with DRE caused by different etiologies, serving as a bridge between clinical and pathological findings and providing a basis for individualized clinical treatment plans. In addition to the integration of multimodal imaging modalities and the development of special scanning sequences and image post-processing techniques for early and precise localization of EZ, the application of deep machine learning for extracting image features and deep learning-based artificial intelligence have gradually improved diagnostic efficiency and accuracy. These improvements can provide clinical assistance for precisely outlining the scope of EZ and indicating the relationship between EZ and functional brain areas, thereby enabling standardized and precise surgery and ensuring good prognosis. However, most existing studies have limitations imposed by factors such as their small sample sizes or hypothesis-based study designs. Therefore, we believe that the application of neuroimaging and post-processing techniques in DRE requires further development and that more efficient and accurate imaging techniques are urgently needed in clinical practice. LEVEL OF EVIDENCE: 5 TECHNICAL EFFICACY: Stage 2.

16.
J Org Chem ; 88(24): 16790-16796, 2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38016176

RESUMEN

A general and efficient method for the synthesis of various selanyl phenanthrenes/polycyclic heteroaromatics through the electrophilic annulation of 2-alkynyl biaryls with diorganyl diselenides under metal-free and mild conditions was established. The sulfanyl phenanthrene was also obtained in moderate yields.

17.
World J Clin Cases ; 11(27): 6618-6623, 2023 Sep 26.
Artículo en Inglés | MEDLINE | ID: mdl-37900245

RESUMEN

BACKGROUND: Spinocerebellar ataxia recessive type 7 (SCAR7) is a rare clinical manifestation beginning in childhood or adolescence. SCAR7 is caused by tripeptidyl peptidase 1 (TPP1) gene mutations, and presents with cerebellar ataxia, pyramidal signs, neurocognitive impairment, deep paresthesia, and cerebellar atrophy. CASE SUMMARY: Here, we describe a 25-year-old female patient in China who presented with increasing difficulty walking, falling easily, shaking limbs, instability holding items, slurred speech, coughing when drinking, palpitations, and frequent hunger and overeating. Magnetic resonance imaging showed cerebellar atrophy. Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene: c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg. Considering the patient's clinical presentation and genetic test results, we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency, which may lead to SCAR7. CONCLUSION: We report the first case of SCAR7 from China. We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7, expanding the range of known disease-causing mutations for SCAR7.

18.
Nat Prod Res ; : 1-4, 2023 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-37850461

RESUMEN

Twelve compounds, including eleven bisabolane-type sesquiterpenoids (1 - 11), and one bacillibactin (12) were identified from marine-derived fungus Aspergillus sydowii SCSIO 41041 isolated from Creseis acicula. The chemical structures were elucidated by the basis of spectroscopic evidences, including HRESIMS, NMR and optical rotation. Biologically, all compounds were evaluated for their acetyl cholin-esterase (AChE) enzyme, pancreatic lipase (PL) enzyme, neuraminidase (NA) and phosphodiesterase 4 (PDE4) inhibitory activities. Compound 12 displayed significant inhibitory activity against neuraminidase (NA) with an IC50 value of 24.0 µM, which was equivalent to the positive drug oseltamivir phosphate (IC50 value of 20.0 µM). And the NA inhibitory activity was confirmed by molecular docking analysis.

19.
Res Vet Sci ; 165: 105048, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37866007

RESUMEN

BACKGROUND: Brucellosis, a neglected and global zoonotic disease, infect a variety of mammals, among which sheep are one of the main hosts. This disease results in huge economic losses and is a widespread concern around the world. RESULT: Based on the selection criteria, 40 articles from 2010 to 2021 of five databases (CNKI, Wanfang, VIP, PubMed and Science Direct) reported in America, Africa and Asia were included. The data showed that during this period, the overall seroprevalence of sheep brucellosis on these three continents was 6.2%. At the regional level, sheep brucellosis had the highest seroprevalence (8.5%) in Africa and the lowest seroprevalence (1.9%) in the Americas. With regard to the age of the sheep, the seroprevalence was significantly higher in adult sheep (15.5%) than in lambs (8.6%). Further, the seroprevalence was significantly higher in sheep that had abortion (44.3%) than in pregnant (13.0%) and non-pregnant sheep (9.5%). With regard to herd size, herds with >20 sheep (35.4%) had a significantly higher seroprevalence than herds with <20 sheep (16.8%). In terms of farming and grazing mode, free-range rearing (8.4%) was associated with a significantly higher seroprevalence than intensive farming (2.8%), and mixed grazing (37.0%) was associated with a significantly higher seroprevalence than single grazing (5.7%). CONCLUSION: Sheep brucellosis is widely distributed in sheep-rearing regions of America, Africa and Asia, and sheep are susceptible to brucellosis by themselves or from other infectious sources. Therefore, timely monitoring of ovine brucellosis and improving farming and grazing patterns are critical to reducing the prevalence of brucellosis.


Asunto(s)
Brucelosis , Enfermedades de las Cabras , Enfermedades de las Ovejas , Embarazo , Femenino , Animales , Ovinos , Estudios Seroepidemiológicos , Cabras , Enfermedades de las Ovejas/epidemiología , Enfermedades de las Ovejas/etiología , Enfermedades de las Cabras/epidemiología , Brucelosis/epidemiología , Brucelosis/veterinaria , Factores de Riesgo , Asia , África/epidemiología , Crianza de Animales Domésticos
20.
Int Wound J ; 20(10): 4208-4216, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37596719

RESUMEN

A meta-analysis examination was implemented to review diabetic foot wound ulcer (DFWU) management by laser therapy (LT). A broad literature examination until May 2023 was done and 1357 interconnected examinations were revised. The 26 elected examinations, enclosed 1067 personals with DFWU were in the utilized examinations 'starting point, 540 of them were utilizing LT, and 527 were utilizing control. Odds ratio (OR) and 95% confidence intervals (CIs) were utilized to appraise the DFWUs management by LT by the dichotomous and continuous approach and a fixed or random model. LT had significantly higher ulcer size decreases (MD, 17.04; 95% CI, 12.48-21.59, p < 0.001) with high heterogeneity (I2 = 99%), and complete healing rate (OR, 2.88; 95% CI, 1.89-4.37, p < 0.001) with no heterogeneity (I2 = 0%) compared with control in personals with DFWU. LT had significantly higher ulcer size decreases, and complete healing rate compared to control in personals with DFWU. Nevertheless, exercise caution while interacting with its values since all the chosen examinations were found with a low sample size for the comparisons in the meta-analysis.


Asunto(s)
Diabetes Mellitus , Pie Diabético , Terapia por Láser , Humanos , Pie Diabético/radioterapia , Úlcera , Cicatrización de Heridas
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