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Post-partum weight retention in Northeastern Brazilian women: a prospective NISAMI cohort study 巴西东北部妇女产后体重潴留:NISAMI 前瞻性队列研究
Pub Date : 2024-04-08 DOI: 10.1590/1516-3180.2023.0084.R1.010623
S. M. Brito, J. M. Santana, M. Pereira, Djanilson Barbosa dos Santos, Ana Marlúcia Oliveira
ABSTRACT BACKGROUND: Weight retention during the post-partum period is associated with excessive weight gain. OBJECTIVES: To investigate factors associated with maternal weight retention at six months post-partum (PPWR). DESIGN AND SETTING: A prospective cohort study was conducted with 127 women monitored using prenatal services. METHODS: The outcome variable was represented by post-partum maternal weight retention and calculated as the difference between the mother’s weight at sixth month post-partum and her pregestational weight. RESULTS: The mean age of the pregnant women was 26.7 ± 5.25 years old, and the post-partum maternal weight retention was 46.5%. The proximal determinants showed a direct association with PPWR after adjusting for the distal and intermediate variables: excessive gestational weight gain (odds ratio [OR]:3.34; confidence interval [CI]:1.16–9.59), greater adhesion to dietary intake pattern 2 (composed of red meats and derivatives, eggs, industrialized foods, and coffee) (OR:2.70; CI:1.16–6.32), and the absence of exclusive maternal breastfeeding in the first month (OR:3.40; CI:1.27–9.12), as well as primiparity (OR:2.36; CI:1.00–5.55), an intermediate determinant. Insufficient weight gain in pregnancy was inversely associated with the outcome (OR:0.35; CI:0.31–0.93). CONCLUSIONS: Among the hierarchical determinants, proximal factors were interrelated with maternal weight retention, indicating that excessive total weight gain, an inadequate dietary intake pattern, and the absence of exclusive maternal breastfeeding in the first month of life work as dampeners of the return to pre-gestational weight. Prepartum and post-partum care interventions can contribute to reducing excess weight in women.
摘要 背景:产后体重潴留与体重增加过多有关。目的:调查与产后六个月体重潴留(PPWR)相关的因素:调查产后六个月(PPWR)产妇体重潴留的相关因素。设计与环境:对使用产前服务监测的 127 名产妇进行前瞻性队列研究。方法:结果变量为产后体重保持率,计算方法为产妇产后 6 个月时的体重与孕前体重之差。结果:孕妇的平均年龄为(26.7 ± 5.25)岁,产后体重保持率为 46.5%。在对远端和中间变量进行调整后,近端决定因素显示与 PPWR 有直接关系:妊娠体重增加过多(几率比 [OR]:3.34;置信区间 [CI]:1.16-9.59)、更倾向于膳食摄入模式 2(由红肉及其衍生物、鸡蛋、工业化食品和咖啡组成)(OR:2.70;CI:1.16-6.32)、第一个月未进行纯母乳喂养(OR:3.40;CI:1.27-9.12),以及作为中间决定因素的初产妇(OR:2.36;CI:1.00-5.55)。孕期体重增加不足与结果成反比(OR:0.35;CI:0.31-0.93)。结论:在分层决定因素中,近端因素与孕产妇体重保持相互关联,表明总重量增加过多、膳食摄入模式不足以及出生后第一个月没有进行纯母乳喂养会抑制孕产妇体重恢复到孕前水平。产前和产后护理干预有助于减轻妇女的超重。
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引用次数: 0
Utilization of dapsone and hemoglobin in the epithelial skin regeneration therapy of cutaneous loxoscelism: A case report and integrative literature review 利用地塞米松和血红蛋白进行皮肤上皮再生治疗皮肤梭形细胞增多症:病例报告和文献综述
Pub Date : 2024-02-23 DOI: 10.1590/1516-3180.2023.0151.04012023
Omar Azuara-Antonio, Mario Isidoro Ortiz, K. D. Jiménez-Oliver, Marco Castillo-Cabrera, Ana Karen Méndez-Salinas, Luz Hernández-Ramírez
ABSTRACT BACKGROUND: Loxosceles spp are arthropods found worldwide. Its bite may produce cutaneous loxoscelism (necrotic or edematous) or cutaneous-visceral loxoscelism. Depending on their severity and location, cutaneous forms are managed with local cold application and systemic administration of antihistamines, corticosteroids, antibiotics, polymorphonuclear inhibitors, and analgesics. OBJECTIVE: This study aimed to report a case of cutaneous loxoscelism and to identify the main dermatological manifestations associated with the Loxosceles spp bite. DESIGN AND SETTING: This case report and literature review was conducted in a Mexican university. METHODS: A detailed report on the medical management of a patient with cutaneous loxoscelism treated at the emergency department of a public hospital was published. Scopus, PubMed, Web of Science, and Google Scholar databases were searched to identify articles reporting cutaneous loxoscelism. The following keywords were used during the database search: “loxoscelism” OR “spider bite,” OR “loxosceles” OR “loxosceles species” OR “loxosceles venom” OR “loxoscelism case report” AND “cutaneous” OR “dermonecrotic arachnidism.” RESULTS: A 62-year-old female patient with cutaneous loxoscelism was treated with systemic dapsone and local heparin spray. Eighteen studies with 22 clinical cases were included in this systematic review. Of the 22 patients, 12 (54.5%) were men. L. rufescens was the predominant spider species. CONCLUSIONS: The administration of dapsone and heparin for the management of cutaneous loxoscelism demonstrated success in this case, with no sequelae observed. In general, the literature review indicated favorable outcomes in patients treated with antimicrobials and corticosteroids, with continuous healing of skin lesions. SYSTEMATIC REVIEW REGISTRATION: PROSPERO ID CRD42023422424 (https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023422424).
ABSTRACT BACKGROUND:罗汉松属节肢动物遍布全球。被其咬伤后可能会产生皮肤菱形虫病(坏死或水肿)或皮肤-内脏菱形虫病。根据其严重程度和部位,皮肤菱形虫病可通过局部冷敷和全身使用抗组胺药、皮质类固醇、抗生素、多形核抑制剂和止痛药来治疗。目的:本研究旨在报告一例皮肤菱形虫咬伤病例,并确定与菱形虫咬伤相关的主要皮肤病表现。设计与环境:本病例报告和文献综述在墨西哥一所大学进行。方法:发表了一份详细报告,介绍了在一家公立医院急诊科接受治疗的一名皮肤菱形虫患者的医疗处理情况。我们在 Scopus、PubMed、Web of Science 和 Google Scholar 数据库中进行了检索,以找出报道皮肤菱形细胞增多症的文章。在数据库搜索过程中使用了以下关键词:"loxoscelism "或 "蜘蛛咬伤 "或 "loxosceles "或 "loxosceles species "或 "loxosceles venom "或 "loxoscelism case report "和 "cutaneous "或 "dermonecrotic arachnidism"。结果:一名 62 岁的女性皮肤菱形虫病患者接受了全身性地塞米松和局部肝素喷剂治疗。本系统综述共纳入了 18 项研究,22 个临床病例。在 22 例患者中,12 例(54.5%)为男性。L. rufescens是主要的蜘蛛种类。结论:在本病例中,使用达哌酮和肝素治疗皮肤蛛网膜溃疡取得了成功,没有观察到后遗症。总体而言,文献综述显示,使用抗菌药和皮质类固醇治疗的患者疗效良好,皮损持续愈合。系统综述注册:prospero id crd42023422424 (https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023422424)。
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引用次数: 0
Contamination of equipment and surfaces in the operating room anesthesia workspace: a cross-sectional study 手术室麻醉工作区设备和表面的污染:横断面研究
Pub Date : 2024-02-23 DOI: 10.1590/1516-3180.2023.0177.R1.291123
Carlos Eduardo Macedo, Adriano Menis Ferreira, L. D. S. Barcelos, André Luiz Silva Alvim, Liliane Moretti Carneiro, Sandro Rogério Martins, Denise de Andrade, M. A. Rigotti, Ruberval Peres Gasques, Vanderlei Amaro da Silva, Layze Braz De Oliveira, Herica Emilia Félix de Carvalho, Álvaro Francisco Lopes de Sousa
ABSTRACT BACKGROUND: Contamination of the breathing circuit and medication preparation surface of an anesthesia machine can increase the risk of cross-infection. OBJECTIVE: To evaluate the contamination of the anesthetic medication preparation surface, respiratory circuits, and devices used in general anesthesia with assisted mechanical ventilation. DESIGN AND SETTING: Cross-sectional, quantitative study conducted at the surgical center of a philanthropic hospital, of medium complexity located in the municipality of Três Lagoas, in the eastern region of the State of Mato Grosso do Sul. METHODS: Eighty-two microbiological samples were collected from the breathing circuits. After repeating the samples in different culture media, 328 analyses were performed. RESULTS: A higher occurrence of E. coli, Enterobacter spp., Pseudomonas spp., Staphylococcus aureus, and Streptococcus pneumoniae (P < 0.001) were observed. Variations were observed depending on the culture medium and sample collection site. CONCLUSION: The study findings underscore the inadequate disinfection of the inspiratory and expiratory branches, highlighting the importance of stringent cleaning and disinfection of high-touch surfaces.
摘要 背景:麻醉机呼吸回路和药物准备表面的污染会增加交叉感染的风险。目的:评估辅助机械通气全身麻醉中使用的麻醉药物准备表面、呼吸回路和设备的污染情况。设计与环境:在位于南马托格罗索州东部特里斯拉戈斯市的一家中型慈善医院外科中心进行横断面定量研究。方法:从呼吸回路中采集了 82 份微生物样本。在不同培养基中重复采集样本后,进行了 328 项分析。结果:观察到大肠杆菌、肠杆菌属、假单胞菌属、金黄色葡萄球菌和肺炎链球菌的发病率较高(P < 0.001)。培养基和样本采集部位不同,结果也不同。结论:研究结果强调了吸气和呼气分支消毒不充分的问题,突出了对高接触表面进行严格清洁和消毒的重要性。
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引用次数: 0
Effect of N-acetyl cysteine, rifampicin, and ozone on biofilm formation in pan-resistant Klebsiella pneumoniae: an experimental study N-乙酰半胱氨酸、利福平和臭氧对泛耐药肺炎克雷伯菌生物膜形成的影响:一项实验研究
Pub Date : 2024-02-23 DOI: 10.1590/1516-3180.2023.0113.R1.29112023
G. Tuncer, Zerrin Aktas, S. Başaran, A. Çağatay, H. Eraksoy
ABSTRACT BACKGROUND: To the best of our knowledge, this is the first study to evaluate the effectiveness of specific concentrations of antibiofilm agents, such as N-acetyl cysteine (NAC), rifampicin, and ozone, for the treatment of pan-resistant Klebsiella pneumoniae (PRKp). OBJECTIVES: We evaluated the effectiveness of antibiofilm agents, such as NAC, rifampicin, and ozone, on biofilm formation in PRKp at 2, 6, 24, and 72 h. DESIGN AND SETTING: This single-center experimental study was conducted on June 15, 2017, and July 15, 2018, at Istanbul Faculty of Medicine, Istanbul University, Turkey. METHODS: Biofilm formation and the efficacy of these agents on the biofilm layer were demonstrated using colony counting and laser-screened confocal microscopy. RESULTS: NAC at a final concentration of 2 μg/mL was administered to bacteria that formed biofilms (24 h), and no significant decrease was detected in the bacterial counts of all isolates (all P > 0.05). Rifampicin with a final concentration of 0.1 μg/mL was administered to bacteria that formed biofilm (24 h), and no significant decrease was detected in bacterial count (all P > 0.05). Notably, ozonated water of even 4.78 mg/L concentration for 72 h decreased the bacterial count by ≥ 2 log10. CONCLUSION: Different approaches are needed for treating PRKp isolates. We demonstrate that PRKp isolates can be successfully treated with higher concentrations of ozone.
摘要 背景:据我们所知,这是第一项评估特定浓度的抗生物膜剂(如 N-乙酰半胱氨酸 (NAC)、利福平和臭氧)治疗泛耐药肺炎克雷伯菌 (PRKp) 的有效性的研究。目的我们评估了 NAC、利福平和臭氧等抗生物膜药物在 2、6、24 和 72 小时内对 PRKp 生物膜形成的有效性:这项单中心实验研究于 2017 年 6 月 15 日和 2018 年 7 月 15 日在土耳其伊斯坦布尔大学伊斯坦布尔医学院进行。方法:使用菌落计数和激光筛选共聚焦显微镜证明了生物膜的形成以及这些药物对生物膜层的疗效。结果:对形成生物膜的细菌施用最终浓度为 2 μg/mL 的 NAC(24 小时),未发现所有分离菌的细菌计数有显著下降(所有 P > 0.05)。对形成生物膜的细菌施用最终浓度为 0.1 μg/mL 的利福平(24 小时),未发现细菌数量有明显减少(所有 P > 0.05)。值得注意的是,即使是 4.78 毫克/升浓度的臭氧水,72 小时后细菌数量也会减少≥ 2 log10。结论:处理 PRKp 分离物需要不同的方法。我们证明,使用较高浓度的臭氧可以成功处理 PRKp 分离物。
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引用次数: 0
Variability in the perception of palliative care and end-of-life care among hematology professionals from the same reference center in Bahia, Brazil: A descriptive cross-sectional study 巴西巴伊亚州同一参考中心的血液学专业人员对姑息治疗和临终关怀的认识存在差异:描述性横断面研究
Pub Date : 2024-02-23 DOI: 10.1590/1516-3180.2023.0255.R1.29112023
Diego Lopes Paim Miranda, Alini Maria Orathes Ponte Silva, David Pereira Ferreira, Laís Teixeira da Silva, Liliane Lins-Kusterer, Edvan de Queiroz Crusoé, Marianna Batista Vieira Lima, Marco Aurélio Salvino
ABSTRACT BACKGROUND: There are several illness-specific cultural and system-based barriers to palliative care (PC) integration and end-of-life (EOL) care in the field of oncohematology. OBJECTIVES: This study aimed to investigate the variability in the perceptions of PC and EOL care. DESIGN AND SETTING: A cross-sectional study was conducted in the Hematology Division of our University Hospital in Salvador, Bahia, Brazil. METHODS: Twenty physicians responded to a sociodemographic questionnaire and an adaptation of clinical questionnaires used in previous studies from October to December 2022. RESULTS: The median age of the participants was 44 years, 80% of the participants identified as female, and 75% were hematologists. Participants faced a hypothetical scenario involving the treatment of a 65-year-old female with a poor prognosis acute myeloid leukemia refractory to first-line treatment. Sixty percent of the participants chose to follow other chemotherapy regimens, whereas 40% opted for PC. Next, participants considered case salvage for the patient who developed septic shock following chemotherapy and were prompted to choose their most probable conduct, and the conduct they thought would be better for the patient. Even though participants were from the same center, we found a divergence from the most probable conduct among 40% of the participants, which was due to personal convictions, legal aspects, and other physicians’ reactions. CONCLUSIONS: We found considerable differences in the perception of PC and EOL care among professionals, despite following the same protocols. The study also demonstrated variations between healthcare professionals’ beliefs and practices and persistent historical tendencies to prioritize aggressive interventions.
摘要 背景:在肿瘤血液学领域,姑息关怀(PC)整合和临终关怀(EOL)存在一些特定疾病的文化和系统障碍。目的本研究旨在调查人们对姑息关怀和临终关怀认知的差异。设计与环境:在巴西巴伊亚州萨尔瓦多市大学医院血液科进行了一项横断面研究。方法:20 名医生在 2022 年 10 月至 12 月期间回答了一份社会人口调查问卷和一份改编自以往研究的临床调查问卷。结果:参与者的年龄中位数为 44 岁,80% 的参与者为女性,75% 的参与者为血液科医生。参与者面临一个假设情景,涉及对一名 65 岁女性患者的治疗,该患者患有预后不良的急性髓性白血病,一线治疗无效。60%的参与者选择了其他化疗方案,而 40% 的参与者选择了 PC。接下来,参与者考虑了化疗后出现脓毒性休克的患者的抢救方案,并被提示选择他们最有可能采取的方案,以及他们认为对患者更有利的方案。尽管参与者来自同一中心,但我们发现 40% 的参与者与最有可能采取的行为存在分歧,其原因包括个人信念、法律方面以及其他医生的反应。结论:我们发现,尽管遵循相同的操作规程,但专业人员对 PC 和临终关怀的认识存在很大差异。研究还表明,医护人员的信念和实践之间存在差异,而且历史上一直存在优先考虑积极干预的倾向。
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引用次数: 0
The Brazilian version of the High-Activity Arthroplasty Score: cross-cultural adaptation 巴西版高活动关节成形术评分:跨文化适应性研究
Pub Date : 2023-12-08 DOI: 10.1590/1516-3180.2023.0121.26072023
Nathalia Sundin Palmeira de Oliveira, T. M. Cardinot, Danúbia da Cunha de Sá Caputo, Julia Ribeiro Soares, L. Mathias, Luiz Batista Batista, L. P. Oliveira
ABSTRACT BACKGROUND: The High Activity Arthroplasty Score (HAAS) is a self-administered questionnaire, developed in British English, that reliably and validly measures the levels of sports activities in patients following hip and knee arthroplasty surgery. OBJECTIVE: To cross-culturally adapt the HAAS to Brazilian Portuguese language. DESIGN AND SETTING: A cross-sectional study was conducted at a public university hospital in Brazil. METHODS: The Brazilian version of the HAAS was created through a six-step process: translation, synthesis, committee review, pretesting, back-translation, and submission to developers. The translation step was conducted by two independent bilingual translators, both native speakers of Brazilian Portuguese. The back-translation was performed by an independent translator, a native speaker of British English. To ensure the questionnaire's comprehensibility, 46 volunteers (51% men; average age 34-63) participated in the pre-testing step. RESULTS: The cross-cultural adaptation process necessitated modifications to certain terms and expressions to achieve cultural equivalence with the original HAAS. CONCLUSION: The HAAS has been translated from English into Brazilian Portuguese and culturally adapted for Brazil. The validation process for HAAS-Brazil is currently underway.
摘要背景:高活动度关节置换术评分(HAAS)是一份自我管理的问卷,由英式英语开发,可靠有效地测量髋关节和膝关节置换术后患者的运动活动水平。目的:使HAAS系统跨文化适应巴西葡萄牙语。设计与环境:在巴西一所公立大学医院进行了一项横断面研究。方法:巴西版本的HAAS是通过六个步骤创建的:翻译、综合、委员会审查、预测试、反翻译和提交给开发人员。翻译步骤由两名母语为巴西葡萄牙语的独立双语译员进行。反向翻译是由一名母语为英式英语的独立译者完成的。为保证问卷的可理解性,选取46名志愿者(男性占51%;平均年龄34-63岁)参加预测步骤。结果:跨文化适应过程需要对某些术语和表达进行修改,以实现与原HAAS的文化对等。结论:HAAS已从英语翻译成巴西葡萄牙语,并在文化上适应巴西。HAAS-Brazil的验证过程目前正在进行中。
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引用次数: 0
A comparison of pre- and post-operative outcomes in living donors undergoing transperitoneal laparoscopic nephrectomy and open nephrectomy: a retrospective single-center study 接受经腹腔镜肾切除术和开放式肾切除术的活体供体术前术后效果比较:一项回顾性单中心研究
Pub Date : 2023-12-08 DOI: 10.1590/1516-3180.2022.0488.R1.070723
Ahmet Keleş, Cevdet Kaya
ABSTRACT BACKGROUND: Kidney transplantation is often regarded as the preferred therapy for end-stage renal disease. Several surgical procedures have been developed to reduce postoperative donor complications, while maintaining kidney quality. OBJECTIVE: This study aimed to compare the preoperative and postoperative outcomes of living kidney donors who underwent either transperitoneal laparoscopic nephrectomy or open nephrectomy. DESIGN AND SETTING: Retrospective study conducted in Istanbul, Turkey. METHODS: Fifty-five living-related kidney donors underwent nephrectomy and were retrospectively divided into two groups: 21 donors who underwent open nephrectomy (Group 1) and 34 donors who underwent transperitoneal laparoscopic nephrectomy (Group 2). RESULTS: In comparison to the donors who underwent open nephrectomy, those who underwent transperitoneal laparoscopic nephrectomy had significantly shorter postoperative hospital stays (2.3 ± 0.2 versus 3.8 ± 0.8 days, P = 0.003), duration of urinary catheterization (1.2 ± 0.8 days versus 2.0 ± 0.7 days, P = 0.0001), operating times (210 ± 27 minutes versus 185 ± 24 minutes, P = 0.02), and less blood loss (86 ml versus 142 ml, P = 0.048). There was no statistically significant difference between the two groups with regard to the estimated blood transfusion and warm ischemia time. The preoperative week, first postoperative week, and 1-month postoperative serum creatinine levels were comparable between the groups. CONCLUSIONS: Laparoscopic donor nephrectomy can be safely performed at centers with expertise in laparoscopic surgery. Laparoscopic donor nephrectomy has better outcomes than open donor nephrectomy in terms of length of hospital stay, duration of urinary catheterization, operating time, and blood loss.
背景:肾移植通常被认为是终末期肾脏疾病的首选治疗方法。为了减少术后供体并发症,同时保持肾脏质量,已经开发了几种外科手术方法。目的:本研究旨在比较经腹膜腹腔镜肾切除术或开放式肾切除术活体肾供者的术前和术后结果。设计与环境:回顾性研究在土耳其伊斯坦布尔进行。方法:55例活体肾供者行肾切除术,回顾性分为两组:21例行开放式肾切除术(1组),34例行经腹腔腹腔镜肾切除术(2组)。与开腹肾切除术的供者相比,经腹腔腹腔镜肾切除术的患者术后住院时间(2.3±0.2天对3.8±0.8天,P = 0.003)、导尿时间(1.2±0.8天对2.0±0.7天,P = 0.0001)、手术时间(210±27分钟对185±24分钟,P = 0.02)和出血量(86 ml对142 ml, P = 0.048)显著缩短。两组在估计输血量和热缺血时间方面无统计学差异。术前一周、术后第一周和术后1个月血清肌酐水平组间具有可比性。结论:在具有腹腔镜手术专业知识的中心可以安全地进行腹腔镜供肾切除术。腹腔镜供肾切除术在住院时间、导尿时间、手术时间和出血量方面优于开放供肾切除术。
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引用次数: 0
Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase deficiency 艾拉多卡金exuparvovec基因疗法可改善芳香族L-氨基酸脱羧酶缺乏症患者的运动发育状况
Pub Date : 2023-09-01 DOI: 10.5327/1516-3180.141s1.305
P. Hwu, A. Roubertie, Y. Chien, Ni‐Chung Lee, Antonia Wang, Alexis Russell, P.E. Pachelli, L. Giugliani, A. Federhen, Chun-Hwei Tai
Introduction: Aromatic L-amino acid decarboxylase (AADC) deficiency is caused by mutations in the DDC gene reducing AADC enzyme activity causing motor and neurodevelopmental impairments. Objectives: Evaluate clinical outcomes in children with AADC treated with Eladocagene exuparvovec, recombinant adeno-associated viral vector serotype 2 carrying the coding sequence for AADC enzyme. Methods: Therapy was infused bilaterally in the putamina of 30 patients aged 18–102 months receiving 1.8 × 1011 vg (n = 21) or 2.4 × 1011 vg (n = 9) followed for up to 120 months assessed using PDMS-2 key motor milestones including head control (partial or full), sitting (supported or independently), standing (with/away from support; up from cross-legged position), and walking (with/ without assistance; 10 feet; taped line). Motor milestones were measured every 3 months for 1 year following gene therapy, then every 6–12 months for ≤ 120 months. Data extracted on January 4, 2022. Results: At baseline, no patients had mastered head control or more advanced milestones. At year 1 of follow-up, patients were gaining the following skills (n): partial head control (26); full head control (15), sitting unassisted (7), supported standing (2). Progression of development was noted at years 5 and 10. By year 5 of follow-up, more advanced milestones were achieved (n): full head control (24), sitting unassisted (21) assisted walking (5), walking 10 feet (3), or walking upstairs (3). These abilities were maintained for as long as 10 years. Conclusion: The data indicate that eladocagene exuparvovec can provide a durable, positive impact on motor development in patients with AADC deficiency
简介芳香族 L-氨基酸脱羧酶(AADC)缺乏症是由于 DDC 基因突变导致 AADC 酶活性降低,从而引起运动和神经发育障碍。研究目标评估使用携带 AADC 酶编码序列的重组腺相关病毒载体血清 2 型 Eladocagene exuparvovec 治疗 AADC 儿童的临床疗效。治疗方法对30名年龄在18-102个月的患者进行双侧输注治疗,患者接受1.8 × 1011 vg(n = 21)或2.4 × 1011 vg(n = 9)的治疗,随访时间长达120个月,使用PDMS-2关键运动里程碑进行评估,包括头部控制(部分或全部)、坐(有支撑或独立)、站立(有支撑/离开支撑;从盘腿姿势站起)和行走(有辅助/无辅助;10英尺;绑线)。在基因治疗后的 1 年内,每 3 个月测量一次运动发育里程碑,之后每 6-12 个月测量一次,直至 120 个月。数据提取日期为 2022 年 1 月 4 日。结果:基线时,没有患者掌握头部控制或更高级的里程碑。在随访的第一年,患者掌握了以下技能(n):部分头部控制(26);完全头部控制(15),无助坐立(7),支撑站立(2)。在第 5 年和第 10 年,患者的能力得到了进一步提高。到随访的第 5 年,他们达到了更高的里程碑(n):完全头部控制(24)、无辅助坐立(21)、辅助行走(5)、行走 10 英尺(3)或上楼行走(3)。这些能力保持了 10 年之久。结论这些数据表明,艾拉多卡金exuparvovec能对AADC缺乏症患者的运动发育产生持久、积极的影响。
{"title":"Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase deficiency","authors":"P. Hwu, A. Roubertie, Y. Chien, Ni‐Chung Lee, Antonia Wang, Alexis Russell, P.E. Pachelli, L. Giugliani, A. Federhen, Chun-Hwei Tai","doi":"10.5327/1516-3180.141s1.305","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.305","url":null,"abstract":"Introduction: Aromatic L-amino acid decarboxylase (AADC) deficiency is caused by mutations in the DDC gene reducing AADC enzyme activity causing motor and neurodevelopmental impairments. Objectives: Evaluate clinical outcomes in children with AADC treated with Eladocagene exuparvovec, recombinant adeno-associated viral vector serotype 2 carrying the coding sequence for AADC enzyme. Methods: Therapy was infused bilaterally in the putamina of 30 patients aged 18–102 months receiving 1.8 × 1011 vg (n = 21) or 2.4 × 1011 vg (n = 9) followed for up to 120 months assessed using PDMS-2 key motor milestones including head control (partial or full), sitting (supported or independently), standing (with/away from support; up from cross-legged position), and walking (with/ without assistance; 10 feet; taped line). Motor milestones were measured every 3 months for 1 year following gene therapy, then every 6–12 months for ≤ 120 months. Data extracted on January 4, 2022. Results: At baseline, no patients had mastered head control or more advanced milestones. At year 1 of follow-up, patients were gaining the following skills (n): partial head control (26); full head control (15), sitting unassisted (7), supported standing (2). Progression of development was noted at years 5 and 10. By year 5 of follow-up, more advanced milestones were achieved (n): full head control (24), sitting unassisted (21) assisted walking (5), walking 10 feet (3), or walking upstairs (3). These abilities were maintained for as long as 10 years. Conclusion: The data indicate that eladocagene exuparvovec can provide a durable, positive impact on motor development in patients with AADC deficiency","PeriodicalId":21479,"journal":{"name":"São Paulo Medical Journal","volume":"47 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139343496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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São Paulo Medical Journal
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