QJM: An International Journal of Medicine最新文献

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Monkeypox virus infection in a young adult male: a case report. 一名年轻男性感染猴痘病毒：病例报告。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae060

Q Deng, Y-J Chu, J Zhou

引用次数: 0

Acquired angioedema as a late-onset complication after cord blood transplantation: a subtype of chronic graft-versus-host disease. 后天性血管性水肿是脐带血移植后的晚期并发症：慢性移植物抗宿主病的一种亚型。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae072

N Harada, M Moriguchi, S Hakui, S Takayanagi, Y Izuta, Y Kizawa, H Shiragami, H Nakamae, M Hino, A Mugitani

引用次数: 0

Concurrent reversible splenial lesion syndrome and extrapontine osmotic demyelination syndrome associated with hypernatremia. 与高钠血症相关的并发可逆性脾病变综合征和肾外渗透性脱髓鞘综合征。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae061

Y-X Zhang, T-Y Zhang, J-P Zhou, Z-R Liu

引用次数: 0

Efficacy and safety of dupilumab in the treatment of Kimura's disease. 杜匹单抗治疗木村氏病的疗效和安全性。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae048

Y L Liu, Y T Ran, Y F Zhang, X T Peng, Y M Xia, H L Yan

Background: Kimura's disease (KD) is a rare chronic inflammatory condition characterized by nodules and lymphadenopathy in the head and neck region, exhibiting type II inflammation. Dupilumab is commonly used against type II inflammation.

Aim: To evaluate the efficacy and safety of dupilumab in KD patients.

Design: The real-world study was conducted in a hospital in China.

Methods: Six male patients with a mean age of 24.50 ± 15.47 years were treated with dupilumab following the same protocol as that for atopic dermatitis (AD). Clinical and laboratory indicators, such as maximum nodule diameter, blood eosinophil count, eosinophil percentage, and total serum IgE levels were assessed at baseline, Week 12 and Week 24. Adverse events were documented. Paired t-tests and one-way ANOVA were used for statistical analysis.

Results: The results showed significant reductions in the longest nodule diameter at Week 12 (P = 0.006) and Week 24 (P = 0.017) compared to baseline. Blood eosinophil count decreased by 57.95% (P = 0.024) at Week 12 and 90.59% (P = 0.030) at Week 24. Eosinophil percentage decreased by 58.44% (P = 0.026) at Week 12 and 89.37% (P = 0.013) at Week 24. Total serum IgE levels decreased by 78.02% (P = 0.040) at Week 12 and 89.55% (P = 0.031) at Week 24. The presence of AD did not affect the results. One patient experienced temporary facial erythema after 32 weeks of treatment, which resolved with topical treatment. No other adverse events were reported.

Conclusion: Dupilumab demonstrated effectiveness in treating KD without severe adverse events.

背景：木村氏病（KD）是一种罕见的慢性炎症，以头颈部结节和淋巴结病为特征，表现为II型炎症。目的：评估杜匹单抗在KD患者中的疗效和安全性：设计：真实世界研究在中国一家医院进行：方法：按照治疗特应性皮炎（AD）的相同方案，对 6 名男性患者（平均年龄为 24.50±15.47 岁）进行杜比鲁单抗治疗。在基线、第12周和第24周评估临床和实验室指标，如结节最大直径、血液嗜酸性粒细胞计数、嗜酸性粒细胞百分比和血清总IgE水平。不良事件均有记录。统计分析采用配对 t 检验和单因素方差分析：结果显示，与基线相比，第12周（P = 0.008）和第24周（P = 0.001）的最长结节直径明显缩小。血液中的嗜酸性粒细胞数量在第12周减少了57.95%（P = 0.024），在第24周减少了90.59%（P = 0.030）。嗜酸性粒细胞百分比在第12周时下降了58.44%（P = 0.026），在第24周时下降了89.37%（P = 0.013）。血清总 IgE 水平在第 12 周下降了 78.02% (P = 0.040)，在第 24 周下降了 89.55% (P = 0.031)。AD 的存在对结果没有影响。一名患者在治疗 32 周后出现暂时性面部红斑，经局部治疗后消退。未报告其他不良事件：结论：杜匹单抗治疗KD有效，且无严重不良反应。

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引用次数: 0

An uncommon atrioventricular block pattern associated with a novel mutation in TTN. 一种不常见的房室传导阻滞模式与 TTN 的新型突变有关。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae077

G Q Wang, X J Sun, L Zhong

引用次数: 0

T-cell LGL leukaemia my mimic Felty's syndrome. 我的 T 细胞 LGL 白血病可模拟费尔蒂综合征。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae086

Philip Murphy

引用次数: 0

Acute epiglottitis and the thumb sign. 急性会厌炎和拇指征。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae071

F-Y Chew, T-C Shen, B-K Chuang

引用次数: 0

A case of cholesterol crystals detected in 37-year pleural effusion. 一例在 37 年胸腔积液中发现胆固醇结晶的病例。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae066

Y Hu, J Zhang

引用次数: 0

Hypoglossal nerve palsy in IgG4-related disease. IgG4相关疾病引起的舌下神经麻痹。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae056

T Kaneko, Y Okita, Y Kato, M Narazaki, A Kumanogoh

引用次数: 0

Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Fabry disease caused by a novel GLA mutation. 由新型 GLA 基因突变引起的法布里病的临床特征和诱导多能干细胞 (iPSCs) 疾病模型。

IF 7.3 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine

Pub Date : 2024-08-01 DOI: 10.1093/qjmed/hcae038

L Gao, Z Lu, Y Zhang, L Liu, J Sun, H Fu, J Mao, L Hu

Background: Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the galactosidase alpha (GLA) gene. We established a cohort of FD patients and performed whole-exome sequencing to identify some novel mutations.

Aim: The aim of this study is to investigate the etiology of the novel mutation (c.72G > A, p. Trp24*)in the GLA gene in affected patients by using induced pluripotent stem cells (iPSCs) as a valuable tool.

Methods: We explored the clinical implications of this proband and examined the deleteriousness and conservation of the mutation site through bioinformatics analysis. Simultaneously, we collected the peripheral blood mononuclear cells of the affected patient, then reprogrammed them into iPSCs and assessed their enzymatic activity to confirm the function of lysosomal enzyme α-galactosidase A (α-Gal A).

Results: Clinical examination of the patient demonstrated a classical FD, such as neuropathic pain, gastrointestinal disorders, deficiency of α-Gal A activity and accumulation of Lyso-Gb-3. The novel mutation located on the N-terminal region, leading to a truncation of the protein and remaining only 24 amino acids. The α-Gal A activity of the patient-specific iPSC (iPS-FD) was significantly lower (60%) than that of normal iPSCs derived from healthy donors (iPS-B1).

Conclusion: This work not only elucidated the etiology of novel mutations in affected patients but also highlighted the utility of iPSCs as a valuable tool for clarifying the molecular mechanisms and providing new insights into the therapy of FD.

背景：法布里病（FD）是一种由GLA基因突变引起的罕见X连锁遗传病。目的：本研究旨在利用诱导多能干细胞（iPSCs）这一宝贵工具，研究受影响患者 GLA 基因中的新型突变（c.72G > A, p.Trp24*）的病因：我们探讨了该疑似患者的临床意义，并通过生物信息学分析研究了突变位点的缺失性和保存性。同时，我们收集了患者的外周血单核细胞（PBMC），然后将其重新编程为 iPSCs，并评估其酶活性，以确认溶酶体酶 α-半乳糖苷酶 A（α-Gal A）的功能：患者的临床检查显示其患有典型的FD，如神经性疼痛、胃肠功能紊乱、α-Gal A活性缺乏和溶菌酶-Gb-3蓄积。新型突变位于 N 端区域，导致蛋白质截短，只剩下 24 个氨基酸。患者特异性iPSC（iPS-FD）的α-Gal A活性（60%）明显低于来自健康供体的正常iPSC（iPS-B1）：这项工作不仅阐明了受影响患者新型突变的病因，还强调了 iPSCs 作为一种有价值的工具在阐明分子机制和为 FD 治疗提供新见解方面的实用性。

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引用次数: 0

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