Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases [0.03%]
霍奇基斯家庭群聚遗传同型半胱氨酸尿症的十年追踪及文献回顾-以洪都拉斯印第安人近亲婚配家族为例
Anahita Tewari Kodali,Eduardo Rene Schrunder,Linda Skewes Kennedy et al.
Anahita Tewari Kodali et al.
Homocystinuria (HCU) is a rare autosomal recessive metabolic disorder, characterized by a mutation in the enzyme cystathionine beta-synthase and abnormally high levels of homocysteine in the blood. HCU that runs in a family is rare; prior t...
Recurrent spatial disorientation and amnestic episodes associated with lung adenocarcinoma: a serum- and CSF-negative paraneoplastic case [0.03%]
与肺癌相关的复发性空间定向障碍和遗忘症发作的一个血清和脑脊液阴性的副肿瘤病例
Jing Huang,Bo Zuo,Yanhui Shi et al.
Jing Huang et al.
Recurrent seizure-like episodes with preserved motor function and negative conventional investigations pose a significant diagnostic challenge, particularly in elderly patients. We report an elderly patient presenting with recurrent, stereo...
Transvaginal dialysate leak via patent fallopian tubes following peritonitis in a CAPD patient [0.03%]
腹膜炎并发输卵管伞部开口的腹透患者经阴道漏出腹透液一例报告
Zhi Ying Tan,Abosede Bankole
Zhi Ying Tan
Transvaginal leakage of peritoneal dialysate is an uncommon non-infectious complication of peritoneal dialysis (PD) and may be overlooked in female patients presenting with unexplained vaginal fluid loss. A 78-year-old woman with end-stage ...
Total occlusive thrombosis of the abdominal aorta following holmium laser lithotripsy and ureteroscopy [0.03%]
经钬激光碎石及输尿管镜检后腹主动脉完全闭塞性血栓形成
Tawfiq Almezeiny
Tawfiq Almezeiny
Abdominal aortic thrombosis (AAT) is a rare condition with substantial morbidity and mortality risk if not treated promptly. AAT typically occurs in postoperative patients, particularly those with certain risk factors. Here, we present the ...
Pneumocephalus and delayed hydrocephalus following endoscopic endonasal biopsy of skull base lesion: diagnostic pitfalls and the role of immunohistochemistry [0.03%]
内镜经鼻 skull base 生物活检后出现气颅和继发于手术的交通性脑积水：诊断陷阱及免疫组化的作用
Adil Ugur Yavuz,Mehmet Aktoklu,Eda Altunbag Yavuz et al.
Adil Ugur Yavuz et al.
The endoscopic endonasal approach (EEA) has been increasingly utilized for interventions involving the middle cranial base because of its close anatomical relationship with the nasal cavity and nasopharynx. This technique is widely applied ...
Internal limiting membrane detachment associated with papilloedema following brain metastasis in a child with Ewing sarcoma [0.03%]
与EWING肉瘤脑转移相关的视盘水肿引起的内界膜脱离
Ayse Ebru Bahadir,Dilek Guven,Ozgul Altintas
Ayse Ebru Bahadir
This case report presents initial and follow-up findings of a rare case of bilateral internal limiting membrane (ILM) detachment and sub-ILM hemorrhage in a 7-year-old child with Ewing sarcoma, associated with papilloedema due to a brain me...
Thrombotic thrombocytopenic purpura in a patient with systemic lupus erythematosus after anifrolumab: a possible association [0.03%]
一名系统性红斑狼疮患者在使用安尼富隆后出现血栓性血小板减少性紫癜：可能的关联性
Albader Hamza Hussein,Mohamed E Badran,Bayan Lafi Altamimi
Albader Hamza Hussein
Anifrolumab, an inhibitor of the type I interferon receptor, is increasingly used for moderate to severe systemic lupus erythematosus (SLE). Although clinical trials report a favorable safety profile, real-world data remain limited. A 32-ye...
Psychosis-predominant neuropsychiatric lupus in a severely malnourished adolescent: a diagnostic challenge [0.03%]
以精神病表现为主导的狼疮性神经精神异常在重度营养不良的青少年中较为常见：一项诊断挑战
Manu Dwivedi,Muhammad Azaz Iftikhar Cheema,Zoha Ghuman et al.
Manu Dwivedi et al.
Neuropsychiatric systemic lupus erythematosus (NPSLE) is a rare but severe manifestation of systemic lupus erythematosus in adolescents, with psychosis-predominant presentations occurring in approximately 5-12% of pediatric cases. Such mani...
A unique case of sepsis-triggered reverse Takotsubo cardiomyopathy resulting in cardiogenic shock [0.03%]
由败血症触发的逆向应激性心肌病所致的心源性休克的独特病例报告
Andrei-Antonio Caracioni,Sami Mouritane,Sachin Singh et al.
Andrei-Antonio Caracioni et al.
Reverse Takotsubo syndrome (rTTS) is an acute cardiomyopathy characterized by prominent dysfunction in the basilar and mid-ventricular segments with apical hyperkinesis, often triggered by excessive stress hormone release. Sepsis can exacer...