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Analysis of early and treatment related deaths among children and adolescents with acute myeloid leukemia in Poland: 2005-2023. 波兰急性髓性白血病儿童和青少年早期死亡和治疗相关死亡分析:2005-2023 年。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1482720
Katarzyna Pawińska-Wąsikowska, Małgorzata Czogała, Karolina Bukowska-Strakova, Marta Surman, Monika Rygielska, Teofila Książek, Beata Sadowska, Agnieszka Pac, Jolanta Skalska-Sadowska, Magdalena Samborska, Jacek Wachowiak, Małgorzata Ciebiera, Radosław Chaber, Renata Tomaszewska, Tomasz Szczepański, Karolina Zielezińska, Tomasz Urasiński, Anna Rodziewicz-Konarska, Krzysztof Kałwak, Marta Kozłowska, Ninela Irga-Jaworska, Barbara Sikorska-Fic, Bartosz Chyżyński, Paweł Łaguna, Katarzyna Muszyńska-Rosłan, Maryna Krawczuk-Rybak, Paulina Deleszkiewicz, Katarzyna Drabko, Katarzyna Bobeff, Wojciech Młynarski, Agnieszka Chodała-Grzywacz, Grażyna Karolczyk, Katarzyna Mycko, Wanda Badowska, Natalia Bartoszewicz, Jan Styczyński, Katarzyna Machnik, Weronika Stolpa, Agnieszka Mizia-Malarz, Walentyna Balwierz, Szymon Skoczeń

Background: A personalised approach to the treatment of acute myeloid leukemia (AML) in children and adolescents, as well as the development of supportive therapies, has significantly improved survival. Despite this, some patients still die before starting treatment or in an early phase of therapy before achieving remission. The study analysed the frequency, clinical features and risk factors for early deaths (ED) and treatment related deaths (TRD) of children and adolescents with AML.

Methods: From January 2005 to November 2023, 646 children with AML treated in the centers of the Polish Pediatric Leukemia and Lymphoma Study Group according to three subsequent therapeutic protocols were evaluated: AML-BFM 2004 Interim (385 children), AML-BFM 2012 Registry (131 children) and AML-BFM 2019 (130 children).

Results: Out of 646 children, early death occurred in 30 children, including 15 girls. The median age was 10.7 years (1 day to 18 years). More than half of the patients (53%) were diagnosed with acute myelomonocytic leukemia (M5) and 13% with acute promyelocytic leukemia (M3). The ED rate for the three consecutive AML-BFM protocols was 4.9% vs. 5.3% vs. 3.1%, respectively. In 19 patients, death occurred before the 15th day of treatment, in 11 between the 15th and 42nd day. The most common cause of death before the 15th day (ED15) was leukostasis and bleeding, whereas between the 15th and 42nd day (ED15-42), infections, mainly bacterial sepsis. A significant association was found between ED15 and high leukocyte count (>10 × 109/L), M3 leukemia (p < 0.001), and ED15-42 and age <1 year (p = 0.029). In the univariate analysis only initial high leukocyte count >100 × 109/L, was a significant predictor of early death. The overall TRD for the entire study period was 3.4%. The main cause of death were infections, mainly bacterial sepsis (10 children out of 22, 45.4%).

Conclusions: Hyperleukocytosis remains significant factor of early mortality in patients with AML, despite the introduction of various cytoreductive methods. Infections are still the main cause of treatment related deaths. A more individualized approach by using new targeted drugs may be the therapeutic option of choice in the future.

背景:针对儿童和青少年急性髓性白血病(AML)的个性化治疗方法以及支持性疗法的开发,大大提高了患者的生存率。尽管如此,仍有一些患者在开始治疗前死亡,或在获得缓解前的早期治疗阶段死亡。该研究分析了急性髓细胞性白血病儿童和青少年患者早期死亡(ED)和治疗相关死亡(TRD)的频率、临床特征和风险因素:从2005年1月到2023年11月,波兰儿童白血病和淋巴瘤研究小组的中心按照随后的三种治疗方案对646名接受治疗的AML患儿进行了评估:AML-BFM2004年中期方案(385名患儿)、AML-BFM2012年登记方案(131名患儿)和AML-BFM2019年方案(130名患儿):结果:在646名患儿中,有30名患儿早逝,其中包括15名女孩。中位年龄为 10.7 岁(1 天至 18 岁)。超过一半的患者(53%)被诊断为急性粒单核细胞白血病(M5),13%被诊断为急性早幼粒细胞白血病(M3)。AML-BFM三个连续方案的ED率分别为4.9% vs. 5.3% vs. 3.1%。19名患者在治疗第15天之前死亡,11名患者在治疗第15天至第42天之间死亡。第15天前(ED15)最常见的死亡原因是白细胞增多和出血,而第15天到第42天之间(ED15-42)最常见的死亡原因是感染,主要是细菌性败血症。ED15 与高白细胞计数(>10 × 109/L)、M3 白血病之间存在明显关联(P = 0.029)。在单变量分析中,只有初始高白细胞计数(>100 × 109/L)是早期死亡的重要预测因素。在整个研究期间,总体TRD为3.4%。死亡的主要原因是感染,主要是细菌性败血症(22 名儿童中有 10 名,占 45.4%):结论:尽管采用了各种细胞吞噬方法,但高白细胞仍是急性髓细胞白血病患者早期死亡的重要因素。感染仍是治疗相关死亡的主要原因。使用新的靶向药物进行更个体化的治疗可能是未来的治疗选择。
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引用次数: 0
Decreased TREC and KREC levels in newborns with trisomy 21. 21 三体综合征新生儿的 TREC 和 KREC 水平降低。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1468635
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev

Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent association with T and/or B cell lymphopenia. The pilot NBS screening program recently conducted in Russia was aimed to identify both severe T and B cell deficiencies by measuring TREC and KREC. This study aims to evaluate the incidence of DS in newborns who participated in the pilot program, assess their TREC and KREC values, and determine the proportion of DS newborns potentially identifiable through T/B lymphopenia NBS. We conducted a retrospective analysis of the data obtained during the pilot NBS program, involving 202,908 newborns from eight regions of Russia. The study identified 157 patients with trisomy 21 among the screened cohort, resulting in a DS birth prevalence of 1:1,284. Median TREC and KREC values did not significantly differ between full-term and pre-term subgroups of DS patients. TREC values in DS newborns were decreased and comparable to those of the extremely preterm newborns. DS newborns also demonstrated significant differences in KREC values as compared to the general cohort regardless of gestational age. Our data suggests abnormalities of T- and B-cell lineages development and requires further investigation. This article highlights the need for increased awareness of the intrinsic immunological defects associated with DS. The findings underscore the importance of continued follow-up and comprehensive support by healthcare teams for individuals with DS.

新生儿重症联合免疫缺陷(SCID)筛查(NBS)已被广泛实施,以实现早期检测和干预。21 三体综合征,俗称唐氏综合征(DS),由于常伴有 T 和/或 B 细胞淋巴细胞减少症,给 NBS 带来了独特的挑战。最近在俄罗斯开展的新生儿基础营养筛查试点项目旨在通过测量TREC和KREC来识别严重的T细胞和B细胞缺陷。本研究旨在评估参与试点计划的新生儿中 DS 的发病率,评估他们的 TREC 和 KREC 值,并确定通过 T/B 淋巴细胞减少 NBS 可能识别出的 DS 新生儿的比例。我们对新生儿筛查试点项目中获得的数据进行了回顾性分析,涉及俄罗斯八个地区的 202,908 名新生儿。研究在筛查人群中发现了 157 名 21 三体综合征患者,DS 出生率为 1:1,284。DS 患者中足月亚组和早产亚组的 TREC 和 KREC 中位值没有明显差异。DS新生儿的TREC值有所下降,与极早产新生儿的TREC值相当。无论胎龄大小,DS 新生儿的 KREC 值与普通人群相比也有显著差异。我们的数据表明T细胞系和B细胞系发育异常,需要进一步研究。这篇文章强调了提高对与DS相关的内在免疫缺陷认识的必要性。研究结果强调了医疗团队为 DS 患者提供持续跟踪和全面支持的重要性。
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引用次数: 0
Molecular characteristics, risk factors, and clinical outcomes of methicillin-resistant Staphylococcus aureus infections among critically ill pediatric patients in Shanghai, 2016-2021. 2016-2021年上海儿科重症患者耐甲氧西林金黄色葡萄球菌感染的分子特征、风险因素和临床结局。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1457645
Congyi Dai, Wenting Ji, Yufei Zhang, Weichun Huang, Haiying Wang, Xing Wang

Objective: Methicillin-resistant Staphylococcus aureus (MRSA) infection in children has been on the rise, which poses a serious threat to their health and life in China. The purpose of this study was to determine the molecular characteristics, risk factors, and clinical outcomes of MRSA infections among critically ill pediatric patients.

Methods: A retrospective case-control study was performed in the pediatric intensive care unit (PICU) of a tertiary university teaching hospital. All children infected with culture-positive S. aureus in the PICU between January 2016 and December 2021 were included. Univariate and multivariable logistic regression analyses were used to identify potential risk factors for MRSA infection and clinical outcomes of S. aureus infection. All S. aureus isolates were characterized based on antimicrobial resistance, multilocus sequence typing (MLST) and Staphylococcal protein A (spa) typing.

Results: Of 3,974 patients admitted to the PICU, 280 were diagnosed with a S. aureus infection during the 6-year study period. Among them, 43.2% (121/280) were MRSA. All MRSA isolates showed significantly higher rates of resistance to penicillin, erythromycin, clindamycin and tetracycline than MSSA strains. The MRSA strains consisted of 45 spa types and 20 sequence types (STs) (20 clonal complexes), among which the most frequently represented were ST59-t437and ST398-t034. Multivariable logistic regression revealed vaginal delivery, respiratory failure, co-infection with a virus, C-reactive protein (CRP) > 8 mg/L as significant risk factors for MRSA infection. There was no significant difference in all-cause mortality during hospitalization between the MRSA group and the MSSA group. Furthermore, independent predictors for mortality in patients with S. aureus infections were the presence of hypoproteinemia, hematopathy, septic shock, respiratory failure, fever, and white blood cell (WBC) > 15.0 × 109/L.

Conclusions: The study revealed a high proportion of MRSA infections among critically ill pediatric patients, and found significant risk factors for MRSA infection and poor prognosis of S. aureus infection. Methicillin resistance did not contribute to the mortality in the current study. These findings will provide evidence-based practices to make the strategies of prevention and rational use of antibiotics for pediatric patients with S. aureus infection in the ICU.

研究目的在中国,儿童耐甲氧西林金黄色葡萄球菌(MRSA)感染呈上升趋势,严重威胁着儿童的健康和生命。本研究旨在确定儿科重症患者中 MRSA 感染的分子特征、风险因素和临床结果:方法:在一家三级大学教学医院的儿科重症监护室(PICU)开展了一项回顾性病例对照研究。研究纳入了2016年1月至2021年12月期间在PICU感染金黄色葡萄球菌培养阳性的所有患儿。采用单变量和多变量逻辑回归分析来确定MRSA感染的潜在风险因素和金黄色葡萄球菌感染的临床结局。根据抗菌药耐药性、多焦点序列分型(MLST)和金黄色葡萄球菌蛋白A(spa)分型对所有金黄色葡萄球菌分离物进行特征描述:在 6 年的研究期间,PICU 共收治了 3974 名患者,其中 280 人被确诊为金黄色葡萄球菌感染。其中,43.2%(121/280)为 MRSA。所有 MRSA 分离物对青霉素、红霉素、克林霉素和四环素的耐药率均明显高于 MSSA 菌株。MRSA菌株包括45种Spa类型和20种序列类型(ST)(20个克隆复合体),其中最常见的是ST59-t437和ST398-t034。多变量逻辑回归显示,阴道分娩、呼吸衰竭、合并病毒感染、C反应蛋白(CRP)> 8 mg/L是MRSA感染的重要风险因素。MRSA 组和 MSSA 组在住院期间的全因死亡率方面没有明显差异。此外,低蛋白血症、血液病、脓毒性休克、呼吸衰竭、发热和白细胞(WBC)> 15.0 × 109/L也是金黄色葡萄球菌感染患者死亡的独立预测因素:该研究揭示了儿科重症患者中 MRSA 感染的高比例,并发现了 MRSA 感染的重要风险因素和金黄色葡萄球菌感染的不良预后。在本次研究中,甲氧西林耐药性并未导致死亡率上升。这些研究结果将为重症监护室中金黄色葡萄球菌感染的儿科患者制定预防和合理使用抗生素的策略提供循证实践。
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引用次数: 0
The impact of diurnal variations on emergence delirium following general anesthesia and surgery in children. 昼夜变化对儿童全身麻醉和手术后出现谵妄的影响。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1437460
Wei Wei, Haihang Xie, Yingyi Xu, Jingwen Qin, Xinying Guo, Xingrong Song, Gaofeng Yu, Na Zhang, Daqing Ma, Yonghong Tan, Tianyun Zhao

Background: Emergence delirium (ED) is a widely recognized issue that prolongs mechanical ventilation and post-anesthesia care unit (PACU) resuscitation time, consequently increasing hospital costs and mortality. Postoperative disturbance in circadian rhythms, commonly leading to sleep disorders, has been identified as a significant risk factor for ED. However, the influence of surgery timing (morning vs. afternoon) on the incidence of ED in pediatric patients undergoing general anesthesia remains unknown.

Methods: Patients aged 2-6 years who were operated on under general anesthesia with a bispectral index value between 50 and 60 were categorized based on anesthesia start time into either the morning surgery group (Group M, 8:00-12:00) or the afternoon surgery group (Group A, 13:00-17:00). The primary outcome was the post-extubation incidence of ED assessed by the Cornell Assessment of Pediatric Delirium (CAPD) score. Secondary outcomes included extubation time, duration of PACU stay, and adverse postoperative events and complications.

Results: We recruited a total of 560 patients, 280 in group M and 280 in group A. Compared to Group M, Group A exhibited a significantly higher incidence of ED (p < 0.001), elevated CAPD scores (p < 0.001), and prolonged PACU stays (p < 0.001). Notably, there was no significant difference in extubation time and anesthesia-related adverse events or other postoperative complications between the groups.

Conclusion: Our study highlights that the time of surgery significantly affects the incidence of ED, CAPD scores, and PACU stay duration in children. Further validation of these findings may guide future strategies to reduce ED.

背景:谵妄(ED)是一个公认的问题,它会延长机械通气和麻醉后护理病房(PACU)的复苏时间,从而增加医院成本和死亡率。术后昼夜节律紊乱通常会导致睡眠失调,已被确定为引发急诊谵妄的重要风险因素。然而,手术时间(上午与下午)对接受全身麻醉的儿科患者 ED 发生率的影响仍然未知:方法:根据麻醉开始时间,将双频谱指数值在 50-60 之间的 2-6 岁全身麻醉手术患者分为上午手术组(M 组,8:00-12:00)或下午手术组(A 组,13:00-17:00)。主要结果是根据康奈尔儿童谵妄评估(CAPD)评分评估拔管后ED发生率。次要结果包括拔管时间、PACU停留时间以及术后不良事件和并发症:与 M 组相比,A 组的 ED 发生率明显更高(P P P P 结论:我们的研究强调了手术时间的重要性:我们的研究表明,手术时间对儿童 ED 发生率、CAPD 评分和 PACU 留观时间有重大影响。对这些发现的进一步验证可指导未来减少 ED 的策略。
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引用次数: 0
45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review. 45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38]混合性性腺发育不良的马赛克核型:病例报告和文献综述。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1460174
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui

Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidism, processus vaginalis, and dysplastic immature uterus) and a series of corrective surgeries. At 14 months of age, chromosomal karyotyping revealed 46,X,+mar. Upon presentation, lab testing was consistent with the male phenotype at prepuberty. Fluorescence in situ hybridization revealed 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] karyotype. A literature review identified eight case reports of mixed gonadal dysgenesis associated with 45,X/46,X,idic(Y)(q11.2). Neither sex phenotype nor short stature correlated with the 46,X,idic(Y)(q11.2) mosaic ratio.

混合性性腺发育不良是由多种染色体异常引起的,最常见的是 Y 染色体嵌合。一名 8 岁男孩因身材矮小前来就诊,可能需要使用重组生长激素进行治疗。他曾患有混合性性腺发育不良(尿道下裂、双侧隐睾、阴道前突和发育不良的未成熟子宫),并接受过一系列矫正手术。14 个月大时,染色体核型检查结果显示为 46,X,+mar。就诊时,实验室检测结果与青春期前的男性表型一致。荧光原位杂交显示核型为 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] 。文献综述发现了 8 例与 45,X/46,X,idic(Y)(q11.2)相关的混合性性腺发育不良病例报告。性表型和身材矮小均与 46,X,idic(Y)(q11.2)马赛克比率无关。
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引用次数: 0
Editorial: Bioethics in neonatology. 社论:新生儿学中的生物伦理。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1501864
Ana Concheiro Guisán, Sonia Caserío Carbonero
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引用次数: 0
Research hotspots in pediatrics: co-word clustering analysis based on readership in PubMed Central. 儿科研究热点:基于 PubMed Central 读者群的共词聚类分析。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1460954
Fangming Deng, Wen Sun, Jiangwei Guo, Yujia Yang

Objective: By analyzing high readership articles from the Chinese Journal of Contemporary Pediatrics (CJCP) in the PubMed Central (PMC) database, this study aims to identify research hotspots and trends in the field of pediatrics.

Methods: Articles from the CJCP ranked by annual readership in PMC from 2021 to 2023 were collected. Using word frequency analysis and co-word analysis, the thematic characteristics of these articles were explored.

Results: The word frequency analysis and co-word analysis revealed four thematic directions that were of significant interest to researchers: (1) current public health or medical events such as COVID-19 and influenza; (2) mental health issues in children and adolescents; (3) pediatric neurological diseases and neurodevelopment; (4) diseases in preterm infants and newborns.

Conclusions: This study provides pediatric researchers with a valuable perspective to understand and grasp the development dynamics and future directions in the field of pediatrics.

研究目的通过分析PubMed Central(PMC)数据库中《中华当代儿科杂志》(CJCP)的高阅读量文章,本研究旨在发现儿科领域的研究热点和趋势:方法:收集2021年至2023年《中国当代儿科杂志》在PMC中按年阅读量排名的文章。通过词频分析和共词分析,探讨这些文章的主题特征:词频分析和共词分析揭示了研究人员非常感兴趣的四个主题方向:(1) 当前的公共卫生或医疗事件,如 COVID-19 和流感;(2) 儿童和青少年的心理健康问题;(3) 儿科神经系统疾病和神经发育;(4) 早产儿和新生儿疾病:本研究为儿科研究人员了解和把握儿科领域的发展动态和未来方向提供了一个宝贵的视角。
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引用次数: 0
Editorial: Ethnic differences in children in the clinical manifestation of infection with SARS-Cov-2 and its variants. 社论:儿童感染 SARS-Cov-2 及其变种的临床表现的种族差异。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-15 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1484221
Chun-Ting Lin, Kai-Sheng Hsieh
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引用次数: 0
Case Report: A case study and literature review on teeth discoloration caused by linezolid with the shortest incubation period in a pediatric patient. 病例报告:关于利奈唑胺在一名儿童患者中引起的牙齿变色的病例研究和文献综述,利奈唑胺潜伏期最短。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-15 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1440322
Sun Le-le, Zhao Qun, Qi Lei, Meng Xiangwei, Si Jigang

Background: When it comes to the adverse reactions of linezolid, people always call to mind primarily nausea, vomiting, bone marrow suppression, and so on. Few people are aware of the rare adverse reaction of teeth discoloration.

Case presentation: We describe the case of a child affected by bacterial meningitis. After admission, a combination of ceftriaxone and linezolid was administered for anti-infection, and dexamethasone was used to inhibit inflammatory reactions. On the 5th day of treatment with linezolid, the child's teeth appeared brownish color and could not be removed with normal oral hygiene. Upon reviewing the drug instructions and literature, it was found that the discoloration of teeth is a rare adverse reaction of linezolid, which is pseudo discoloration. After stopping the medication for 28 days or up to 5 months, the normal color can be restored. There is no significant impact on the life of the patient, therefore, continue to use linezolid to complete the anti-infection course.

Results: After 14 days of anti-infection treatment, the inflammatory indicators of the child decreased to normal, and the condition was close to recovery before discharge. After stopping the medication for 28 days, the color of the teeth returned to normal.

Conclusions: This rare adverse reaction sheds light on a previously unreported side effect of this widely used antibiotic. In our case, the discoloration of the teeth occurred earlier, updating the latent period of the adverse reaction.

背景:说到利奈唑胺的不良反应,人们想到的主要是恶心、呕吐、骨髓抑制等。很少有人知道牙齿变色这种罕见的不良反应:我们描述了一例细菌性脑膜炎患儿的病例。入院后,给予头孢曲松和利奈唑胺联合抗感染,并使用地塞米松抑制炎症反应。在使用利奈唑胺治疗的第 5 天,患儿的牙齿出现褐色,且无法通过正常的口腔清洁去除。经查阅药品说明书和文献,发现牙齿变色是利奈唑胺的一种罕见不良反应,属于假性变色。停药 28 天或最长 5 个月后,即可恢复正常颜色。对患者的生活没有明显影响,因此可继续使用利奈唑胺完成抗感染疗程:抗感染治疗14天后,患儿炎症指标降至正常,出院前病情接近恢复。停药 28 天后,牙齿颜色恢复正常:结论:这一罕见的不良反应揭示了这种广泛使用的抗生素以前从未报道过的副作用。在我们的病例中,牙齿变色发生较早,更新了不良反应的潜伏期。
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引用次数: 0
Nemaline myopathy with scoliosis: a case report. 脊柱侧弯的线粒体肌病:病例报告。
IF 2.1 3区 医学 Q2 PEDIATRICS Pub Date : 2024-10-15 eCollection Date: 2024-01-01 DOI: 10.3389/fped.2024.1413096
Jin Huang, Chen Zhang, Jing Li, Huaming Wang, Xiaojuan Cui, Juan Wang, Borong Zhang, Xiaoqiang Wang, Deming Lin, Jun Zhao, Jiantao Wen

Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review. The pathogenic genes of this patient originated from compound heterozygous mutations c.12471 + 3A>G from the mother and c.7727G>A from the father, leading to the diagnosis of NM accompanied by scoliosis, which represents a relatively rare clinical phenotype.

线粒体肌病(NM)是一种罕见的先天性肌肉疾病,会导致肌肉损伤,造成肌肉无力和萎缩。因肌肉无力和萎缩而诱发脊柱侧弯的病例极为罕见。作者临床治疗了一名并发脊柱侧弯的 NM 患者,并通过文献回顾分析了其临床特征。该患者的致病基因来源于母亲的c.12471 + 3A>G和父亲的c.7727G>A复合杂合突变,因此被诊断为NM伴脊柱侧弯,这是一种较为罕见的临床表型。
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引用次数: 0
期刊
Frontiers in Pediatrics
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