degeneration

变性
  • 文章类型: Journal Article
    一氧化氮(NO)是细胞通讯中的重要分子,在许多生物过程中也起着重要作用。鉴于NO在面神经损伤后神经变性和再生中的双重作用,我们试图通过系统的文献综述更深入地研究它的作用。使用SCOPUS的文献的全面回顾,PubMed,科克伦图书馆,EMBASE,和GoogleScholar数据库用于评估NO在面神经损伤后神经变性和再生中的诱导和作用。从最终审查的20篇论文中,主要发现是神经元型一氧化氮合酶(nNOS),内皮型一氧化氮合酶(eNOS),和诱导一氧化氮合酶(iNOS)的增加或减少取决于面神经损伤的方法,受损区域,收获面积,和动物年龄,并与面神经的变性和再生有关。对大鼠和小鼠进行的研究表明,NO,nNOS,eNOS,iNOS在神经再生和变性中起重要作用。然而,神经损伤与NO之间的关系不能通过简单的因果关系来定义。相反,NOS的参与取决于神经细胞的类型,NO的来源,定时,和表达式的位置,目标动物的年龄,和靠近脑干的损伤位置。因此,nNOS,eNOS,iNOS的表达水平和功能可能有显著差异。
    Nitric oxide (NO) is an important molecule in cell communication that also plays an important role in many biological processes. Given the dual role of NO in nerve degeneration and regeneration after facial nerve injury, we sought to delve deeper into its role through a systematic literature review. A comprehensive review of the literature employing SCOPUS, PubMed, Cochrane Library, EMBASE, and Google Scholar databases was conducted to evaluate the induction and role of NO in neurodegeneration and regeneration after facial nerve injury. From the 20 papers ultimately reviewed, the central findings were that neuronal nitric oxide synthase(nNOS), endothelial nitric oxide synthase (eNOS), and induced nitric oxide synthase (iNOS) increased or decreased depending on the method of facial nerve damage, damaged area, harvested area, and animal age, and were correlated with degeneration and regeneration of the facial nerve. Research conducted on rats and mice demonstrated that NO, nNOS, eNOS, and iNOS play significant roles in nerve regeneration and degeneration. However, the relationship between nerve damage and NO could not be defined by a simple causal relationship. Instead, the involvement of NOS depends on the type of nerve cell, source of NO, timing, and location of expression, age of the target animal, and proximity of the damage location to the brainstem. Consequently, nNOS, eNOS, and iNOS expression levels and functions may vary significantly.
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  • 文章类型: Journal Article
    视网膜,中枢神经系统的组织,对视觉至关重要,因为它的光感受器捕获光并将其转化为电信号,在将它们发送到大脑以解释为图像之前进行进一步处理。视网膜的独特之处在于它持续暴露于光线,并且在体内所有组织中具有最高的代谢率和对能量的需求。因此,视网膜对氧化应激非常敏感。VDAC,线粒体外膜上的一个孔,在线粒体和胞质溶胶之间穿梭代谢物,通常保护细胞免受氧化损伤,但是当细胞的完整性受到极大的损害时,它就会引发细胞死亡。VDAC有三种同工型,现有证据表明这三者都在视网膜中表达。然而,它们在每种细胞类型中的精确定位和功能是未知的。似乎大多数视网膜细胞表达大量的VDAC2和VDAC3,可能是为了保护它们免受氧化应激。光感受器在Warburg途径中表达VDAC2,HK2和PKM2关键蛋白,也保护这些细胞。与它在启动细胞死亡中的作用一致,VDAC在视网膜变性疾病视网膜色素变性中过度表达,年龄相关性黄斑变性(AMD),和青光眼。用抗氧化剂处理或抑制VDAC寡聚化降低其表达并改善细胞存活。因此,VDAC可能是治疗这些疾病的有希望的治疗候选物。
    The retina, a tissue of the central nervous system, is vital for vision as its photoreceptors capture light and transform it into electrical signals, which are further processed before they are sent to the brain to be interpreted as images. The retina is unique in that it is continuously exposed to light and has the highest metabolic rate and demand for energy amongst all the tissues in the body. Consequently, the retina is very susceptible to oxidative stress. VDAC, a pore in the outer membrane of mitochondria, shuttles metabolites between mitochondria and the cytosol and normally protects cells from oxidative damage, but when a cell\'s integrity is greatly compromised it initiates cell death. There are three isoforms of VDAC, and existing evidence indicates that all three are expressed in the retina. However, their precise localization and function in each cell type is unknown. It appears that most retinal cells express substantial amounts of VDAC2 and VDAC3, presumably to protect them from oxidative stress. Photoreceptors express VDAC2, HK2, and PKM2-key proteins in the Warburg pathway that also protect these cells. Consistent with its role in initiating cell death, VDAC is overexpressed in the retinal degenerative diseases retinitis pigmentosa, age related macular degeneration (AMD), and glaucoma. Treatment with antioxidants or inhibiting VDAC oligomerization reduced its expression and improved cell survival. Thus, VDAC may be a promising therapeutic candidate for the treatment of these diseases.
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  • 文章类型: Journal Article
    种马的管理对马的繁殖至关重要。长寿是育种生涯的最终目的,种马是用于自然覆盖还是用于精液采集和人工授精。农场兽医应了解用于评估睾丸功能的技术以及紧急情况下睾丸疾病的诊断方法。本文介绍了用于评估睾丸健康的临床方法,包括触诊,超声检查,活检,和细针抽吸。睾丸疾病的讨论分为四类:先天性疾病(隐睾,单甲,和睾丸发育不全),阴囊肿大的鉴别诊断,进行性睾丸增大的原因的鉴别诊断,以及睾丸不对称或缩小的鉴别诊断,重点是睾丸变性。睾丸大小的突然增加通常伴有严重的临床症状,并且是转诊种马进行手术的主要原因。作者看到的临床病例说明了睾丸疾病。
    Management of breeding stallions is crucial to equine reproduction. The longevity of the breeding career is the ultimate objective, whether the stallion is used for natural cover or for semen collection and artificial insemination. Stud farm veterinarians should be aware of the techniques used to evaluate testicular function and the diagnostic approach to testicular disorders in cases of emergency. This paper presents the clinical methods used to evaluate testicular health, including palpation, ultrasonography, biopsy, and fine-needle aspiration. The discussion of testicular disorders is broken down into four categories: congenital disorders (cryptorchidism, monorchidism, and testicular hypoplasia), differential diagnosis of scrotal enlargement, differential diagnosis of causes of progressive testicular enlargement, and differential diagnosis of testicular asymmetry or reduction in size with an emphasis on testicular degeneration. The sudden increase in testicular size is often accompanied by severe clinical signs and is a major cause for referral of stallion for surgery. Testicular disorders are illustrated with clinical cases seen by the authors.
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  • 文章类型: Case Reports
    副肿瘤性神经变性(PND)表现为通常与潜在癌症相关的突发性或亚急性神经系统综合征。公开或亚临床。在PND的范围内,亚急性副肿瘤小脑变性(PCD)代表了一个独特的子集。虽然罕见,及时诊断具有改善神经系统和肿瘤学结果的潜力.在这里,我们介绍了一个61岁的患者,诊断为亚急性小脑变性,最终揭示了非小细胞肺癌。
    Paraneoplastic neurologic degeneration (PND) manifests as a sudden or subacute neurological syndrome often linked to underlying cancer, either overt or subclinical. Within the spectrum of PND, subacute paraneoplastic cerebellar degeneration (PCD) represents a distinctive subset. While rare, prompt diagnosis holds the potential to ameliorate both neurological and oncological outcomes. Herein, we present the case of a 61-year-old patient diagnosed with subacute cerebellar degeneration, ultimately unveiling non-small cell lung carcinoma.
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  • 文章类型: Journal Article
    目的:子宫肌瘤增加早产风险。目前的研究强调子宫肌瘤坏死是(极端)早产的可能原因。
    方法:在一家荷兰学术医院进行回顾性队列研究。病例是从MyoFert研究的526名参与者中选出的(荷兰试验登记册,NL7990),其中包括2004年至2018年期间就诊的患者,诊断为子宫肌瘤时年龄在18岁至45岁之间.在这些参与者中,414名妇女怀孕了。对首次妊娠进行了回顾性图表回顾。主要结果是(即将发生的)早产和超声检查显示的纤维瘤坏死迹象。在有纤维样坏死迹象的女性中,系统地收集了以下数据:纤维瘤特征,临床表现,妊娠结局,和产后。
    结果:总计,66名妇女早产(16%,66/414),其中25例怀孕在16到<24周之间结束(38%,25/66)和41例怀孕在妊娠24至<37周之间结束(62%,41/66)。在所有早产和可用超声图像的妇女中,15%(7/48)在分娩时出现纤维样坏死。这七个病人,补充了三名在第一次怀孕期间患有纤维瘤坏死的患者和至少一次即将发生早产的患者,更详细地描述了。在这十位患者中,在妊娠早期和中期,肌瘤的大小显著增加,导致所有患者严重腹痛,7例患者入院。超声检查显示肌瘤异源性改变和局灶性跨音速区,这是表明纤维瘤坏死的特征。在四名患者中,行子宫肌瘤切除术,组织学证实坏死。
    结论:妊娠期间的纤维样坏死可能与(即将发生的)早产有关。建议临床医生在结构上评估妊娠子宫肌层,特别是在妊娠中期出现腹痛的女性中。
    OBJECTIVE: Uterine fibroids increase the risk of preterm birth. The current study highlights uterine fibroid necrosis as a possible cause of (extreme) preterm birth.
    METHODS: Retrospective cohort study in one Dutch academic hospital. Cases were selected from the 526 participants of the MyoFert study (Netherlands Trial Register, NL7990), which included patients who presented between 2004 and 2018 and were between the age of 18 and 45 years at the time of diagnosis of uterine fibroids. Of these participants, 414 women became pregnant. A retrospective chart review of the first pregnancies was performed. The main outcomes were (imminent) preterm birth and signs of fibroid necrosis on ultrasound. In women with signs of fibroid necrosis, the following data were collected systematically: fibroid characteristics, clinical presentation, pregnancy outcome, and postpartum period.
    RESULTS: In total, 66 women had a preterm birth (16 %, 66/414), of which 25 pregnancies ended between 16 and <24 weeks (38 %, 25/66) and 41 pregnancies ended between 24 and <37 weeks of gestation (62 %, 41/66). Of all women with preterm birth and available ultrasound images, 15 % (7/48) had fibroid necrosis at the time of labour. These seven patients, supplemented with three patients with fibroid necrosis during their first pregnancy and at least one episode of imminent preterm birth, are described in more detail. In these ten patients, the fibroids increased substantially in size during the first and second trimester, leading to severe abdominal pain in all patients and hospital admission in seven patients. Ultrasound examination of the fibroids showed heterogenic changes and focal transonic areas in the fibroid, which are characteristics that indicate fibroid necrosis. In four patients, myomectomy was performed and necrosis was confirmed histologically.
    CONCLUSIONS: Fibroid necrosis during pregnancy is likely associated with (imminent) preterm birth. Clinicians are advised to structurally evaluate the myometrium in pregnancy, specifically in women presenting with abdominal pain in the second trimester.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Journal Article
    肌营养不良是导致肌肉完整性进行性丧失的一类破坏性疾病。杜氏肌营养不良症,最常见的肌肉萎缩症,是由于功能性肌营养不良蛋白的丧失。虽然人们对这些疾病中肌肉组织的破坏有很多了解,对于这些疾病中也发生的突触缺陷,人们知之甚少。突触缺陷也是神经退行性疾病的最早标志之一,包括神经肌肉疾病肌萎缩侧索硬化症(ALS)。我们目前的研究调查了成年肌肉组织中的突触缺陷以及果蝇肌营养不良蛋白突变体中的突触前运动神经元。在这里,我们证明了进步,肌营养不良蛋白突变体的飞行能力的年龄依赖性丧失伴随着神经肌肉结(NMJs)的紊乱,包括突触前和突触后标记的定位受损。我们发现这些突触缺陷,包括运动神经元内的突触前缺陷,是由于肌肉内的肌营养不良蛋白的损失。这些结果应有助于更好地了解神经肌肉疾病中细胞丢失之前的早期突触缺陷。
    Muscular dystrophies are a devastating class of diseases that result in a progressive loss of muscle integrity. Duchenne Muscular Dystrophy, the most prevalent form of Muscular Dystrophy, is due to the loss of functional Dystrophin. While much is known regarding destruction of muscle tissue in these diseases, much less is known regarding the synaptic defects that also occur in these diseases. Synaptic defects are also among the earliest hallmarks of neurodegenerative diseases, including the neuromuscular disease Amyotrophic Lateral Sclerosis (ALS). Our current study investigates synaptic defects within adult muscle tissues as well as presynaptic motor neurons in Drosophila dystrophin mutants. Here we demonstrate that the progressive, age-dependent loss of flight ability in dystrophin mutants is accompanied by disorganization of Neuromuscular Junctions (NMJs), including impaired localization of both presynaptic and postsynaptic markers. We show that these synaptic defects, including presynaptic defects within motor neurons, are due to the loss of Dystrophin specifically within muscles. These results should help to better understand the early synaptic defects preceding cell loss in neuromuscular disorders.
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  • 文章类型: Journal Article
    目的:脉络膜新生血管(CNV)在X-连锁视网膜劈裂(XLRS)患者中的记录很少。本研究旨在探讨XLRS患者中CNV的患病率及临床特点。以及分析初步的基因型-表型相关性。
    方法:纳入基因证实的XLRS患者的回顾性病例系列。人口统计,分析了临床和遗传特征,与CNV和非CNV眼睛之间的比较。
    结果:在129例XLRS患者的185只眼中,CNV的患病率为8.1%(15/185).所有CNV患者的平均诊断年龄为5.1±2.56岁。CNV眼睛的平均最佳矫正视力(BCVA)(最小分辨率角度的对数)为1.37±0.74。将所有CNV分类为视网膜下和活性的。乳头周围CNVs占80.0%(12/15),而中央凹下CNVs占20.0%(3/15)。在CNV眼中,黄斑萎缩的患病率(5/15,33.3%,p=0.013)和大疱性外周分裂(14/15,93.3%,p=0.000)与非CNV眼相比更高。此外,与非CNV眼相比,CNV眼表现出较差的外视网膜和BCVA的完整性(p=0.007)。所有15只患有CNV的眼睛均接受了抗血管内皮生长因子(抗VEGF)治疗。基因型分析显示,10例患者中有7例(70.0%,10只眼睛)被预测有错觉变体,而10例患者中有3例(30.0%,5只眼)表现出严重的变异。
    结论:发现XLRS眼中CNV的患病率为8.1%。XLRS继发的所有CNV均具有活性,并分类为2型。CNV眼表现出较差的视觉功能和受损的视网膜结构。抗VEGF治疗证明在治疗XLRS-CNV中有效。没有建立显著的基因型-表型相关性。
    OBJECTIVE: Choroidal neovascularisation (CNV) in patients with X-linked retinoschisis (XLRS) has been poorly documented. This study aims to investigate the prevalence and clinical characteristics of CNV in patients with XLRS, as well as analyse the preliminary genotype-phenotype correlation.
    METHODS: A retrospective case series of patients with genetically confirmed XLRS was included. Demographic, clinical and genetic features were analysed, with a comparison between CNV and non-CNV eyes.
    RESULTS: Among 185 eyes of 129 patients with XLRS, the prevalence of CNV was 8.1% (15/185). The mean diagnostic age of all patients with CNV is 5.1±2.56 years. CNV eyes exhibited a mean best-corrected visual acuity (BCVA) (logarithm of the minimal angle of resolution) of 1.37±0.74. All CNVs were classified as subretinal and active. Peripapillary CNVs accounted for 80.0% (12/15), while subfoveal CNVs accounted for 20.0% (3/15). In CNV eyes, the prevalence of macular atrophy (5/15, 33.3%, p=0.013) and bullous peripheral schisis (14/15, 93.3%, p=0.000) was higher compared with non-CNV eyes. Additionally, CNV eyes exhibited poorer integrity of the outer retina and BCVA (p=0.007) compared with non-CNV eyes. All 15 eyes with CNV underwent anti-vascular endothelial growth factor (anti-VEGF) therapy. Genotype analysis revealed that 7 of 10 patients (70.0%, 10 eyes) were predicted to have missense variants, while 3 of 10 patients (30.0%, 5 eyes) exhibited severe variants.
    CONCLUSIONS: The prevalence of CNV in XLRS eyes was found to be 8.1%. All CNVs secondary to XLRS were active and classified as type 2. CNV eyes demonstrated poorer visual function and compromised retinal structures. Anti-VEGF therapy demonstrated effectiveness in treating XLRS-CNVs. No significant genotype-phenotype correlation was established.
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  • 文章类型: Journal Article
    目的:本研究通过比较峡部裂性腰椎滑脱患者椎间盘退变程度,分析和探讨峡部滑脱与椎间盘退变的关系,腰椎间盘突出症,和无症状的健康个体。
    方法:本研究共纳入138例,由L5-S1单节病变患者和正常腰椎人群组成。根据疾病类型分为三组:峡部裂性腰椎滑脱组(IS)58例,腰椎间盘突出症(LDH)组50例,正常腰椎组(NLV)30例。
    结果:研究结果表明,LDH组椎间盘退变的比例明显高于IS组和NLV组(65.3%vs.33.3%vs.25.8%,P<0.05)。LDH组的腰椎间盘Pfirrmann分级(L1-L4)明显高于IS组和NLV组(P<0.05),LDH组腰椎椎间高度指数(IHI)(L1-L4)明显低于IS组和NLV组(P<0.05)。
    结论:结果显示,峡部裂型腰椎滑脱症患者的椎间盘退变程度较腰椎间盘突出症患者轻,甚至类似于健康个体。峡部裂性腰椎滑脱的发生可能通过某些因素减缓了未受影响节段椎间盘的退变。
    OBJECTIVE: This study analyzed and explored the relationship between isthmic spondylolisthesis and disc degeneration by comparing the degree of disc degeneration in patients with isthmic spondylolisthesis, lumbar disc herniation, and asymptomatic healthy individuals.
    METHODS: This study included a total of 138 cases, consisting of L5-S1 single segment lesion patients and a normal lumbar spine population. The cases were divided into 3 groups based on the type of disease: fifty eight cases in the isthmic spondylolisthesis (IS) group, 50 cases in the lumbar disc herniation (LDH) group, and 30 cases in the normal lumbar vertebrae (NLV) group.
    RESULTS: The research findings indicate that the proportion of intervertebral disc degeneration in the LDH group is significantly higher than that in the IS group and NLV group (65.3% vs. 33.3% vs. 25.8%, P < 0.05). The Pfirrmann grades of lumbar intervertebral discs (L1-L4) in the LDH group are significantly higher than those in the IS group and NLV group (P < 0.05), and the intervertebral height index (IHI) (L1-L4) of lumbar vertebrae in the LDH group is significantly lower than that in the IS group and NLV group (P < 0.05).
    CONCLUSIONS: The results showed that the degree of intervertebral disc degeneration in patients with isthmic spondylolisthesis was lighter than that in patients with LDH, and even similar to that in healthy individuals. The occurrence of IS may have slowed down the degeneration of nonaffected segment intervertebral discs through certain factors.
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  • 文章类型: Journal Article
    盘内注射condoliase后椎间盘特性的详细变化仍存在争议。给药后3个月和9个月,研究了椎间盘的影像学变化。共有41名患者(男性,25岁;平均年龄,46年),在未进行其他侵入性治疗的情况下,在给药后3和9个月进行了定期随访磁共振成像。基于Pfirrmann椎间盘分级系统的髓核强度变化,中矢状椎间盘高度,并评估了疝的最大突出长度。此外,比较了24例年龄<50岁的患者(年轻组)和17例年龄≥50岁的患者(50岁以上组)的椎间盘高度变化.术前椎间盘的整体平均高度分别为9.1、7.5和7.6mm,3个月时,9个月时,分别,3个月时显著降低(P<0.001),此后无显著变化。疝的平均最大突出长度显着并逐渐减少。给药后Pfirrmann椎间盘等级的总比例在3到9个月之间相等。然而,在3至9个月之间,17例中有8例(47.1%)确认了从Pfirrmann椎间盘IV至III级的恢复,20例中有6例(30.0%)显示从III到IV的下降。与50岁以上组相比,治疗前椎间盘高度>11mm的年轻组患者的椎间盘高度降低最大。总之,在50岁以上组的临床结果与年轻组注射condoliase后的结果相当,而椎间盘较高的年轻患者更容易发生椎间盘高度降低。
    The detailed changes in disc properties after intradiscal injection of condoliase remain controversial. At 3 and 9 months after administration, radiographic changes in discs were investigated. A total of 41 patients (men, 25; median age, 46 years) who underwent regular follow-up magnetic resonance imaging at 3 and 9 months after administration without additional invasive therapy were retrospectively investigated. The intensity changes of the nucleus pulposus based on the Pfirrmann disc grading system, midsagittal disc height, and maximum protrusion length of herniation were assessed. In addition, disc height changes were compared between 24 patients aged <50 years (young group) and 17 patients aged ≥50 years (over 50s group). The overall mean disc heights were 9.1, 7.5, and 7.6 mm preoperatively, at 3 months, and at 9 months, respectively, with a significant reduction at 3 months (P < 0.001) and no significant changes thereafter. The mean maximum protrusion length of herniation significantly and gradually decreased. The overall proportions of Pfirrmann disc grades after administration were equivalent between 3 and 9 months. However, the recovery from Pfirrmann disc grades IV to III was confirmed in 8 of 17 cases (47.1%) between 3 and 9 months, whereas 6 of 20 cases (30.0%) showed a decline from III to IV. Patients in the young group with pretreatment disc height >11 mm had the greatest reduction in disc height than the over 50s group. In conclusion, the clinical outcomes in the over 50s group were comparable to those in the young group after injection of condoliase, whereas young patients with higher disc were more susceptible to disc height reduction.
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