Contracture

挛缩
  • 文章类型: Journal Article
    BACKGROUND: When the range of motion between two finger segments, both active and passive, is restricted, finger contracture occurs. The aim of this study is to investigate the best procedure to eliminate finger contracture and the functional and esthetic results of the different surgical procedures.
    METHODS: A total of 31 patients with soft-tissue abnormalities of the hand were included in this prospective study. They underwent either contracture removal with K-wire and skin grafts or various flap procedures in the department of plastic surgery. Complaints of stiffness and discomfort were classified into five categories: none, mild, moderate, marked, and severe. The difficulty a person had in picking up objects, grasping, writing, etc., was used to determine the degree of disability. Absenteeism from work and surgical site infections were also recorded.
    RESULTS: The mean age was 20.25 years, with a mean age of 23.05 for men and 15.83 for women. Overall, most cases occurred in the age range of 3-10 years. For K-wire surgery with skin grafting, the typical time off work was 24 days. The average recovery time ranged from 15.2 days for skin grafts to 16.9 days for tenolysis, 28.33 days for groyne flaps, and 41 days for abdominal flaps. Of all cases, 12 (38.00%) had a fair result, 10 (31.04%) had a moderate result, and 9 (30.96%) had an excellent result.
    CONCLUSIONS: The most feasible method for treating these situations, which offers the greatest potential for a functional and cosmetic result, is contracture reduction with skin grafting.
    Résumé Contexte:Lorsque l’amplitude de mouvement entre deux segments de doigts, actifs et passifs, est restreinte, une contracture des doigts se produit. Le Le but de cette étude est d’étudier la meilleure procédure pour éliminer la contracture des doigts et les résultats fonctionnels et esthétiques des différents interventions chirurgicales.Matériels et méthodes:Au total, 31 patients présentant des anomalies des tissus mous de la main ont été inclus dans cette étude prospective. étude. Ils ont subi soit une ablation des contractures avec du fil K et des greffes de peau, soit diverses procédures de lambeau dans le service de chirurgie plastique. Les plaintes de raideur et d’inconfort ont été classées en cinq catégories: aucune, légère, modérée, marquée et grave. La difficulté d’une personne qu’ils avaient à ramasser des objets, à les saisir, à écrire, etc., a été utilisé pour déterminer le degré d’incapacité. Absentéisme au travail et sur le site chirurgical des infections ont également été enregistrées.Résultats:L’âge moyen était de 20,25 ans, avec un âge moyen de 23,05 ans pour les hommes et de 15,83 ans pour les femmes. Dans l’ensemble, la plupart des cas sont survenus dans la tranche d’âge de 3 à 10 ans. Pour la chirurgie au fil K avec greffe de peau, le temps d’arrêt typique était de 24 jours. La moyenne le temps de récupération variait de 15,2 jours pour les greffes de peau à 16,9 jours pour la ténolyse, 28,33 jours pour les lambeaux d’épi et 41 jours pour les lambeaux abdominaux. Parmi tous les cas, 12 (38,00 %) ont eu un résultat passable, 10 (31,04 %) ont eu un résultat modéré et 9 (30,96 %) ont eu un excellent résultat.Conclusion:le plus La méthode réalisable pour traiter ces situations, qui offre le plus grand potentiel de résultat fonctionnel et esthétique, est la réduction des contractures. avec greffe de peau.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:烧伤颈部挛缩对重建外科医生构成了巨大挑战。关于基于不同手术管理策略的长期结果的文献很少。这项研究的目的是评估颈部烧伤瘢痕挛缩治疗的长期结果,并根据其长期有效性和相关并发症评估手术策略。
    方法:进行了一项回顾性队列研究,以回顾烧伤后颈部挛缩释放的结果。包括2009年1月至2023年2月在一个机构进行手术的所有患者。
    结果:共有20例患者出现颈部烧伤瘢痕挛缩,纳入本研究。平均年龄为32.9±20.3岁。烧伤最常见的是热损伤(n=19,95%)。所有烧伤都是全层烧伤,平均颈部缺损尺寸为130.5±106.0cm2。总的来说,对20例发生颈部挛缩的患者进行了45次手术疤痕释放手术。患者平均接受1.65±1.04次手术来解决颈部挛缩。尽管25%的患者仅接受了1次手术治疗颈部挛缩,一些病人接受了多达8次手术。挛缩复发(CR)是最常见的并发症,发生率为28.9%。CR患者(26.7%±14.9%)和非CR患者(44.5%±30.2%)的平均总身体表面积百分比没有显着差异。然而,CR患者(198.5±108.3cm2)与非CR患者(81.1±75.1cm2)之间的平均颈部缺损大小差异有统计学意义(P=0.01)。
    结论:这项研究表明,初始烧伤瘢痕挛缩的危险因素可能不同于与CR相关的危险因素,强调颈部缺损大小作为预测指标的重要性。该研究还检查了各种手术方法,Z型成形术显示出管理CR的希望。然而,缺乏颈部活动范围的数据是一个限制。这项研究强调了管理CR的复杂性,并强调了持续术后监测的必要性。
    BACKGROUND: Burn neck contractures pose a great challenge for reconstructive surgeons. A paucity of literature exist regarding long-term outcomes based on different surgical management strategies. The aim of this study was to evaluate the long-term outcomes of the treatment of neck burn scar contractures and evaluate surgical strategies according to their long-term effectiveness and associated complications.
    METHODS: A retrospective cohort study was conducted to review outcomes of neck contractures release after burn injury. All patients operated on between January 2009 and February 2023 at a single institution were included.
    RESULTS: A total of 20 patients developed neck burn scar contracture and were included in this study. The mean age was 32.9 ± 20.3 years. The burn injuries were most commonly thermal (n = 19, 95%). All burn injuries were full-thickness burns, with an average neck defect size of 130.5 ± 106.0 cm2. Overall, 45 surgical scar release procedures were performed on the 20 patients who developed a neck contracture. Patients underwent 1.65 ± 1.04 surgeries on average to address neck contracture. Although 25% of patients only received 1 surgery to treat neck contracture, some patients underwent as many as 8 surgeries. Contracture recurrence (CR) was the most common complication and occurred in 28.9% of the cases. The mean percentage total body surface area did not significantly differ in CR patients (26.7% ± 14.9%) and no-CR patients (44.5% ± 30.2%). However, there was a significant difference (P = 0.01) in the average neck defect size between CR patients (198.5 ± 108.3 cm2) and no-CR patients (81.1 ± 75.1 cm2).
    CONCLUSIONS: This study showed that risk factors for initial burn scar contractures may differ from those associated with CR, highlighting the importance of neck defect size as a predictor. The study also examines various surgical approaches, with Z-plasty showing promise for managing CR. However, the absence of data on neck range of motion is a limitation. This research underscores the complexity of managing CR and emphasizes the need for ongoing postoperative monitoring.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:关节积液与颞下颌关节紊乱病(TMD)之间的关系尚不清楚。这项研究的目的是探讨关节积液之间的相关性,TMD的临床特征和MRI影像学特征。
    方法:从2022年1月至2023年6月的766名患者(605名女性和161名男性)的1532名颞下颌关节(TMJs)纳入研究,平均年龄为31.68±13.71岁。收集并分析临床和MRI特征。卡方检验,进行Spearman相关系数和二元logistic回归分析。
    结果:关节积液患者明显年龄较大,MIO值较小(p<0.001)。关节声音的分布存在显着差异(有或没有),关节疼痛(有或没有),椎间盘形态(双凹,挛缩,关节积液组(JE)与非关节积液组(NA)之间的不规则和延长)和椎间盘位置(P<0.05)。与没有关节声音的患者相比,有关节声音的患者发生关节积液的几率高1.726。与没有关节痛的患者相比,有关节痛的患者发生关节积液的几率高8.463。与双凹患者相比,挛缩患者发生关节积液的几率高2.277。与椎间盘位置正常的患者相比,前椎间盘移位复位(ADDWR)患者发生关节积液的几率高1.740。该模型的预测精度为74.9%,曲线下面积(AUC)为79.5%,表明它可以用于预测,判断效果是平均的。
    结论:结果表明关节声音,关节痛,挛缩,和ADDWR是关节积液的高危因素,尤其是关节痛.
    背景:本研究于2022年3月28日进行回顾性注册,并得到广州医科大学附属口腔医院伦理委员会的认可(LCYJ2022014)。
    BACKGROUND: The relationship between joint effusion and temporomandibular disorders (TMD) remains unclear. The purpose of this study was to investigate the correlation among joint effusion, clinical features and MRI imaging features of TMD.
    METHODS: A total of 1532 temporomandibular joints (TMJs) from 766 patients (605 females and 161 males) with the mean age of 31.68 ± 13.71 years from January 2022 to June 2023 were included in the study. Clinical and MRI features were collected and analyzed. Chi-Square test, Spearman correlation coefficient and binary logistic regression analysis were performed.
    RESULTS: Patients with joint effusion were significantly older and had smaller value of MIO (p < 0.001). There were significant differences in the distribution of joint sounds (with or without), joint pain (with or without), disc morphology (biconcave, contracture, irregular and lengthened) and disc position between joint effusion group (JE) and non-joint effusion group (NA) (P < 0.05).The odds of having joint effusion were 1.726 higher in patients with joint sounds when compared to those without joint sounds. The odds of having joint effusion were 8.463 higher in patients with joint pain when compared to those without joint pain. The odds of having joint effusion were 2.277 higher in patients with contracture when compared to those with biconcave. The odds of having joint effusion were 1.740 higher in patients with anterior disc displacement with reduction (ADDWR) when compared to those with normal disc position. The prediction accuracy of this model is 74.9%, and the area under curve (AUC) is 79.5%, indicating that it can be used for the prediction and the judgment effect is average.
    CONCLUSIONS: The results demonstrated that joint sounds, joint pain, contracture, and ADDWR are high risk factors for joint effusion, especially joint pain.
    BACKGROUND: This study was retrospectively registered on 28/03/2022 and endorsed by the Ethics Committee of Affiliated Stomatology Hospital of Guangzhou Medical University (LCYJ2022014).
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景:观察不同时间点不同直径的自膨式金属(SEM)气道支架植入后相关并发症的发生,为临床上现有气道支架的优化设计提供理论依据。
    方法:健康新西兰大白兔胸部CT检查后建立良性气管狭窄模型。将气道狭窄超过50%的四五个模型兔分为两组。A组21只兔植入小直径SEM支架(支架直径与气道直径之比近1.0),B组24只兔植入大直径气管支架(支架直径与气道直径之比大于1.2)。第2次支架植入术后观察支架相关并发症,第四,8th,第12周通过支气管镜大体解剖,病理和IL-1RA的表达,IL-8和MMP9受累气管。
    结果:B组支架后气管软化的发生率(24/24100%)明显高于A组(1/21,4.8%)(P<0.05)。支架两端瘢痕挛缩发生率B组(11/24,45.8%)明显高于A组(2/21,9.5%)(P<0.05)。病理结果A、B均显示支气管粘膜柱状上皮开始损伤和脱落,炎症细胞浸润后第2周和第4周的支架,上皮被修复了,固有层腺体几乎消失了,胶原纤维增生明显,在第8周和第12周后形成疤痕。ELISA结果显示IL-1RA的表达,支架组比良性气管狭窄模型兔IL-8和MMP9升高。B组IL-1RA和MMP9在不同时期升高,但A组IL-1RA和MMP9的表达在早期呈先升高后降低的趋势。
    结论:金属支架可引起兔良性气管狭窄不同程度的支架相关并发症。B组支架诱导气管软化和瘢痕挛缩的发生率高于A组。IL-8和MMP9可能参与了支架植入术后并发症的发生和B组峰值向后移动。ING.
    BACKGROUND: To observe the occurrence of related complications after self-expandable metallic (SEM) airway stents implantation with different diameters at different time points, and to provide theoretical basis for the optimal chioce of existing airway stents in clinical practice.
    METHODS: Healthy New Zealand white rabbits were used to establish benign tracheal stenosis models after chest CT examination. Forty-fivemodel rabbits with more than 50% of airway stenosis were divided into two groups. Small-diameter SEM stents (The ratio of stent diameter to airway diameter is nearly 1.0) were implanted in Group A in 21 rabbits, and large-diameter tracheal stents (The ratio of stent diameter to airway diameter is more than 1.2) were implanted in Group B in 24 rabbits. Stent-related complications were observed after stent implantation in 2nd,4th,8th, and 12th week by bronchoscopygross anatomy, pathological and the expressions of IL-1RA, IL-8 and MMP9 in involved tracheal.
    RESULTS: The incidence rate of tracheomalacia of stent was significantly higher in group B (24/24 100%) than that in group A (1 /21,4.8%) (P < 0.05). The incidence rate of scar contracture at both ends of stent was significantly higher than in group B (11 / 24,45.8%) that in group A (2 /21, 9.5%) (P < 0.05). The pathological results of both A and B showed that the columnar epithelium of bronchial mucosa began to damage and detach, inflammatory cells infiltrated after 2nd and 4th week of stenting, The epithelium was repaired, the lamina propria glands almost disappeared, collagen fiber proliferation was obvious, and scars were formed after 8th and 12th week of stenting. ELISA results revealed that the expressions of IL-1RA, IL-8, and MMP9 were increased in the stent group than in model rabbit with benign tracheal stenosis. IL-1RA and MMP9 increased at different periods in group B, but the expression of IL-1RA and MMP9 showed a tread of increasing in the early stage and then decreasing in group A.
    CONCLUSIONS: Metal stents can cause different degrees of stent-related complications in rabbits with benign tracheal stenosis. The incidence of stent-induced tracheomalacia and scar contracture were higher in Group B than that in Group A. IL-1RA, IL-8 and MMP9 may be involved in the development of complications after stentimplantation and peak value of group B movered backward. ing.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    脑瘫(CP)是一种影响运动控制的神经系统损伤。患有CP的个体也经常发展为继发性损伤,如虚弱和挛缩。运动控制改变和继发性损伤都会影响神经系统损伤后个体的行走方式。然而,理解这些障碍之间的复杂相互作用和相对影响使得分析和改善CP中的步行能力具有挑战性。我们使用矢状平面肌肉骨骼模型和神经肌肉控制框架来模拟蹲下和非残疾步态。我们通过改变控制每条腿的协同作用的数量(改变的控制)来扰乱每个模拟,强加的虚弱和挛缩。还使用贝叶斯加性回归树(BART)模型来解析每种损伤对每种步态模式所需的肌肉激活的相对影响。通过使用这些模拟来评估神经肌肉损伤的步态模式特定效应,我们确定了克劳奇步态的一些优点。例如,crouch在没有和有改变的控制的情况下,可以耐受13%和22%的无残疾步态,分别。此外,BART表明,在非残疾步态期间,足底屈肌无力对总肌肉活动的影响是蹲下步态的两倍。然而,在存在vasti无力的情况下,crouch步态也是不利的:crouch步态增加了vasti无力对步态的影响,而不改变控制。这些模拟突出了步态模式的特定效应和神经肌肉损伤之间的相互作用。利用计算技术来理解这些影响可以引发步态偏差的优势,提供洞察为什么个人可以选择他们的步态模式和可能的干预措施,以提高能量学。
    Cerebral palsy (CP) is a neurologic injury that impacts control of movement. Individuals with CP also often develop secondary impairments like weakness and contracture. Both altered motor control and secondary impairments influence how an individual walks after neurologic injury. However, understanding the complex interactions between and relative effects of these impairments makes analyzing and improving walking capacity in CP challenging. We used a sagittal-plane musculoskeletal model and neuromuscular control framework to simulate crouch and nondisabled gait. We perturbed each simulation by varying the number of synergies controlling each leg (altered control), and imposed weakness and contracture. A Bayesian Additive Regression Trees (BART) model was also used to parse the relative effects of each impairment on the muscle activations required for each gait pattern. By using these simulations to evaluate gait-pattern specific effects of neuromuscular impairments, we identified some advantages of crouch gait. For example, crouch tolerated 13 % and 22 % more plantarflexor weakness than nondisabled gait without and with altered control, respectively. Furthermore, BART demonstrated that plantarflexor weakness had twice the effect on total muscle activity required during nondisabled gait than crouch gait. However, crouch gait was also disadvantageous in the presence of vasti weakness: crouch gait increased the effects of vasti weakness on gait without and with altered control. These simulations highlight gait-pattern specific effects and interactions between neuromuscular impairments. Utilizing computational techniques to understand these effects can elicit advantages of gait deviations, providing insight into why individuals may select their gait pattern and possible interventions to improve energetics.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    骨质疏松性股骨远端骨折的治疗通常因骨不连和内翻塌陷的高发生率而复杂化。对于这样的骨折,在最近的文献中,带有侧向切口的侧向钢板和带有前旁切口的双钢板显示出有希望的结果。这项研究的假设是,与孤立的外侧锁定钢板相比,骨质疏松患者股骨远端粉碎性骨折的双侧钢板将导致更高的愈合率和更低的翻修率。该研究包括56名患者(23名男性,33名女性)合并股骨髁上骨折。根据OA/OTA分类,9是A3型,8是A2型,13是C1型,16是C2型,10是C3型。平均随访时间为12个月,29例患者使用外侧小切口治疗,侧向锁定板,和27例接受前辅助切口治疗的患者,双电镀。评估临床和放射学结果。研究人群放射学联合的平均持续时间为15±2.1个月(范围,11-21个月)在单板组(A组)中,和13.5±2.6个月(范围,9-19个月)在双板组(B组)中。A组平均ROM为112.3°,屈曲挛缩为4°,B组ROM108.3°和屈曲挛缩6.7°(P=.15)。A组的西安大略省和麦克马斯特大学关节炎指数(WOMAC)平均得分为85.6分,B组为83.5分(P=0.2278)。A组手术肢体术后前倾测量范围为-15~19,B组从5到18,当在术后期间比较受伤和未受伤四肢的前倾程度时,在A组中观察到显着差异(P=0.0018),但B组无显著差异(P=.2492)。采用前路辅助入路的双钢板固定是治疗骨质疏松性股骨远端骨折的有效手术方法。这具有许多优点,例如精确曝光,易于操作,解剖还原,稳定的固定。然而,对于手术指征和内侧骨缺损>1厘米,应该进行嫁接。
    Treatment of osteoporotic distal femur fractures is often complicated by a high rate of nonunion and varus collapse. For such fractures, lateral plating with lateral incision and double plating with anterior paramedial incision have shown promising results in the recent literature. The hypothesis of this study was that bilateral plating of comminuted distal femur fractures in osteoporotic patients would result in higher union rates and lower revision rates compared to an isolated lateral locking plate. The study included 56 patients (23 males, 33 females) with supracondylar femur fracture. According to the OA/OTA classification, 9 were type A3, 8 were A2, 13 were C1, 16 were C2, and 10 were C3. The mean follow-up period was 12 months, with 29 patients treated using lateral mini-incision, lateral locking plate, and 27 patients treated with anterior paramedial incision, dual plating. The clinical and radiological results were evaluated. The mean duration of radiological union in the studied population was 15 ± 2.1 months (range, 11-21 months) in the single plate group (Group A), and 13.5 ± 2.6 months (range, 9-19 months) in the double plate group (Group B). Mean ROM was 112.3° and flexion contracture 4° in Group A, and ROM 108.3° and flexion contracture 6.7° in Group B. (P = .15). The average Western Ontario and McMaster Universities Arthritis Index (WOMAC) score was 85.6 points in Group A and 83.5 points in Group B (P = .2278). The postoperative anteversion measurement in the operated extremity ranged from -15 to 19 in Group A, and from 5 to 18 in Group B. When the anteversion degrees were compared between the injured and uninjured extremities in the postoperative period, a significant difference was observed within Group A (P = .0018), but no significant difference was observed in Group B (P = .2492). Dual plate fixation using the anterior paramedial approach is an effective operative method for osteoporotic distal femur fractures. This has many advantages such as precise exposure, easy manipulation, anatomic reduction, and stable fixation. However, for surgical indications and medial bone defects > 1 cm, grafting should be performed.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    烧伤后颈部挛缩(PBC)患者对麻醉医师提出了独特的挑战。越来越多地使用声门上装置(SGD)来管理此类患者。我们比较了全身麻醉(GA)下PBC成年患者的i-gel®和LMABlockBuster™。
    该研究包括63名受试者,其性别为轻度/中度PBC颈部,美国麻醉医师协会在GA下的体质状态I和II。患者口内病理,张口<2.5厘米,排除重度挛缩。患者被随机分配到i-gel®(I)和BlockBuster™(B)组。研究的主要目的是成功插入的时间。第一次尝试成功率,口咽渗漏压(OLP),并对并发症进行了评估.
    与B组相比,I组的平均插入时间明显少于B组(17.35±1.43vs.21.32±1.10s;P<0.001),B组的OLP明显高于I组(34.03±1.33vs.25.23±3.04cm的H2O;P<0.001)。发现与B组(P=0.011)相比,I组在统计学上更容易插入,并且降低了对插入装置的气道操纵的需求(P=0.017)。各组在并发症方面相似。
    SGD是轻度/中度PBC颈部气道管理的有吸引力的选择。具有较短的插入时间和较容易插入的i-gel®在紧急情况下可以是有利的,而使用LMABlockBuster™可以是优选的,以降低由于较高的OLP引起的抽吸风险。
    UNASSIGNED: Post burn injury contracture (PBC) neck patients pose a unique challenge for the anesthesiologists. The use of supraglottic device (SGDs) for managing such patients is being increasingly used. We compared i-gel® and LMA BlockBuster™ in PBC adult patients under general anesthesia (GA).
    UNASSIGNED: The study included 63 subjects with mild/moderate PBC neck of either sex with American Society of Anesthesiologists Physical Status I and II under GA. Patients with intraoral pathology, mouth opening <2.5 cm, and severe contracture were excluded. Patients were randomly assigned to i-gel® (I) and BlockBuster™ (B) groups. The primary objective of the study was the time for successful insertion. First attempt success rate, oropharyngeal leak pressures (OLP), and complications were also assessed.
    UNASSIGNED: Mean insertion time was significantly less in Group I as compared to Group B (17.35 ± 1.43 vs. 21.32 ± 1.10 s; P < 0.001), OLP in Group B was significantly higher as compared to Group I (34.03 ± 1.33 vs. 25.23 ± 3.04 cm of H2O; P < 0.001). Group I was found to be statistically easier to insert as compared to Group B (P = 0.011) with reduced requirement of airway maneuvering to insert the device (P = 0.017). Groups were similar in terms of complications.
    UNASSIGNED: SGDs are attractive option for airway management in mild/moderate degree of PBC neck. i-gel® having shorter insertion time with easier insertion can be favorable at times of emergency while use of LMA BlockBuster™ can be preferred to reduce the risk of aspiration owing to higher OLP.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    与MYH3基因功能障碍相关的疾病以脊柱侧凸为特征,V指的挛缩,膝盖和肘部,小腿肌肉发育不良,足畸形和肢体长度不对称。这项研究的目的是通过外显子组测序确定三代波兰家族中肌肉骨骼畸形的原因。该家族中新描述的MYH3基因的c.86A>C变体的分离表明遗传的常染色体显性遗传模型。检测到的MYH3变体在家族内隔离疾病。所提出的结果扩展了MYH3疾病谱,并强调了先天性脊柱缺损和关节挛缩综合征的临床诊断挑战。
    A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene in the family indicates an autosomal dominant model of inheritance. The detected MYH3 variant segregates the disease within the family. The presented results expand the MYH3 disease spectrum and emphasize the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    背景:H综合征是由SLC29A3基因的双等位基因致病变异引起的罕见遗传病。它的特点是广泛的临床表现,其中许多与免疫风湿病领域有关。这些包括硬皮病样皮肤变化,变形性关节炎,淋巴结肿大.这种情况还具有心脏和内分泌缺陷,以及听力损失,其免疫发病机制似乎不太清楚。在最近的经验中,免疫调节药物已被证明可以改善许多症状。
    方法:一名21岁的女孩在被诊断为H综合征后被转诊到我们的研究所。她的病史以手指和脚趾畸形为特征,它从生命的头几年开始发展,并随着倾斜而逐渐恶化。6岁时,她被诊断为糖尿病,没有典型的自身抗体和双侧感觉神经性听力损失。她还抱怨淋巴结病经常发作,有时由于胰腺功能不全而出现碰撞和生长迟缓。直到H综合征的基因诊断,才注意到急性期反应物的持续增加,表明免疫学发病机制可能是她问题的根源。在她访问我们研究所期间,她报告说,由于膝关节炎和肌肉挛缩,脚和手都严重疼痛,行走困难。在受影响的关节中注射类固醇和甲氨蝶呤的常规治疗仅导致部分改善。在对她的炎症状况进行全面评估后,显示干扰素得分较高,该女孩接受了baricitinib治疗.此外,根据最近的数据显示,由于溶酶体中Toll样受体7的激活,SLC29A3缺乏导致干扰素产生,还加入羟氯喹。两种药物的组合首次导致炎症标志物的快速和持续正常化,伴随着症状的戏剧性改善。
    结论:我们描述了在H综合征中抑制IFN炎症的结果,并讨论了JAK抑制剂和抗疟药如何代表这种孤儿药紊乱的基于机械的治疗。
    BACKGROUND: H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deforming arthritis, and enlarged lymph nodes. The condition also features cardiac and endocrine defects, as well as hearing loss, for which the immune pathogenesis appears less clear. Immunomodulatory medications have been shown to improve many symptoms in recent experiences.
    METHODS: A 21-year-old girl was referred to our institute after being diagnosed with H syndrome. Her medical history was characterized by the development of finger and toe deformities, which developed since the first years of life and progressively worsened with clinodactyly. At 6 years of age, she was diagnosed with diabetes mellitus without typical autoantibodies and with bilateral sensorineural hearing loss. She also complained of frequent episodes of lymphadenopathy, sometimes with colliquation and growth retardation due to pancreatic insufficiency. It wasn\'t until the genetic diagnosis of H syndrome that the continual increase in acute phase reactants was noticed, suggesting that an immunological pathogenesis may be the source of her problems. During her visit to our institute, she reported serious pain in both feet and hands and difficulty walking due to knee arthritis and muscle contractures. Conventional therapy with steroid injection in affected joints and methotrexate only led to partial improvement. After a thorough assessment of her inflammatory profile showing a high interferon score, the girl received treatment with baricitinib. Furthermore, based on recent data showing that SLC29A3 deficiency results in interferon production because of Toll-like Receptor 7 activation in lysosomes, hydroxychloroquine was also added. The combination of the two drugs resulted for the first time in a rapid and persistent normalization of inflammatory markers, paralleled by a dramatic improvement in symptoms.
    CONCLUSIONS: We describe the results of inhibiting IFN inflammation in H syndrome and discuss how JAK inhibitors and antimalarials might represent a mechanistically based treatment for this orphan drug disorder.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    目的:膀胱颈挛缩症(BNC)是经尿道前列腺电切术后罕见但不能耐受的并发症。本研究旨在探讨良性前列腺增生(BPH)患者以及经尿道前列腺电切或前列腺摘除(TURP/TUEP)后BNC的发生率和危险因素。
    方法:这项回顾性研究包括2017年1月至2022年1月接受经尿道前列腺手术的1008例BPH患者。患者人口统计学,医疗合并症,泌尿外科特征,围手术期参数,并记录了BNC的存在。进行单因素和多因素分析以确定危险因素。
    结果:共有2%(20/1008)的BPH患者术后发生BNC,中位发生时间为5.8个月。特别是,BNC的发生率分别为4.7%和1.3%。术前尿路感染(UTI),PSA升高,较小的前列腺体积(PV),膀胱憩室(BD),单因素分析中B-TURP与BNC显著相关。进一步的多变量逻辑回归显示术前UTI(OR4.04,95%CI2.25至17.42,p<0.001),BD(OR7.40,95%CI1.83至31.66,p<0.001),B-TURP(OR3.97,95%CI1.55~10.18,p=0.004)为独立危险因素。所有BNC患者均采用经尿道膀胱颈电切术(TUIBN)联合局部多部位注射倍他米松治疗。在35.8个月的中位随访中,35%(7/20)的BNC患者在1.8个月的中位时间复发。
    结论:BNC是经尿道前列腺手术后的低频并发症。术前UTI,BD,B-TURP可能是BNC的独立危险因素。TUIBN联合局部多点注射倍他米松可能是BNC治疗的有希望的选择。
    OBJECTIVE: Bladder neck contracture (BNC) is a rare but intolerant complication after transurethral surgery of prostate. The present study aims to investigate the incidence and risk factors of BNC in patients diagnosed benign prostate hyperplasia (BPH) and following transurethral resection or enucleation of the prostate (TURP/TUEP).
    METHODS: This retrospective study included 1008 BPH individuals who underwent transurethral surgery of the prostate between January 2017 and January 2022. Patients\' demographics, medical comorbidities, urologic characteristics, perioperative parameters, and the presence of BNC were documented. Univariate and multivariate analyses were conducted to identify the risk factors.
    RESULTS: A total of 2% (20/1008) BPH patients developed BNC postoperatively and the median occurring time was 5.8 months. Particularly, the incidences of BNC were 4.7% and 1.3% in patients underwent Bipolar-TURP and TUEP respectively. Preoperative urinary tract infection (UTI), elevated PSA, smaller prostate volume (PV), bladder diverticulum (BD), and B-TURP were significantly associated with BNC in the univariate analysis. Further multivariate logistic regression demonstrated preoperative UTI (OR 4.04, 95% CI 2.25 to 17.42, p < 0.001), BD (OR 7.40, 95% CI 1.83 to 31.66, p < 0.001), and B-TURP (OR 3.97, 95% CI 1.55 to 10.18, p = 0.004) as independent risk factors. All BNC patients were treated with transurethral incision of the bladder neck (TUIBN) combined with local multisite injection of betamethasone. During a median follow-up of 35.8 months, 35% (7/20) of BNC patients recurred at a median time of 1.8 months.
    CONCLUSIONS: BNC was a low-frequency complication following transurethral surgery of prostate. Preoperative UTI, BD, and B-TURP were likely independent risk factors of BNC. TUIBN combined with local multisite injection of betamethasone may be promising choice for BNC treatment.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号