Hyperglycemia Due to HNF1A-Mutation-Associated Maturity-Onset Diabetes of the Young (MODY) in a 6-Year-Old Kazakh Girl [0.03%]
一例6岁哈萨克HNF1A突变所致苗勒氏不能成熟糖尿病综合征的女孩高血糖症病例报告
Aiganym B Toleuzhanova,Elena Zholdybayeva,Sholpan Eslamgalieva et al.
Aiganym B Toleuzhanova et al.
BACKGROUND In this report, a Kazakh family with multigenerational clustering of diabetes mellitus was observed, strongly suggestive of a monogenic, heritable form such as maturity-onset diabetes of the young (MODY). Whole exome sequencing i...
Rare Complications in Crohn's Disease: Diagnostic and Therapeutic Challenge of Dermal Abscesses Caused by Nontuberculous Mycobacteria Following Infliximab Therapy, and Fluoroquinolone-Related Achilles Tendon Rupture [0.03%]
克罗恩病罕见并发症：英夫利西治疗后非结核分枝杆菌所致皮下脓肿的诊断和治疗难题以及氟喹诺酮相关阿 bonus: 克腿肌腱断裂
Nidhi Gupta,Kriti Yadav,Andrew Carter et al.
Nidhi Gupta et al.
BACKGROUND Mycobacterium mucogenicum is a rapidly growing nontuberculous mycobacterium that rarely causes cutaneous disease. Patients receiving tumor necrosis factor-alpha (TNF-alpha) inhibitors are at increased risk for opportunistic and g...
Acute Intraoperative Disseminated Intravascular Coagulation During Suppurative Keloid Excision: A Case Report [0.03%]
感染性瘢痕疙瘩切除术中急性术中弥散性血管内凝血1例报告
Bang Luong Nguyen,Minh Quang Pham,Tu Huu Nguyen et al.
Bang Luong Nguyen et al.
BACKGROUND Disseminated intravascular coagulation (DIC) is a severe coagulopathy characterized by widespread microvascular thrombosis and consumptive coagulopathy, leading to both thrombosis and hemorrhage. Whereas DIC is well documented in...
High-Dose Furmonertinib Management of Advanced NSCLC Harboring an EGFR Exon 14 Missense Mutation: A Case Report and Literature Review [0.03%]
高剂量化磷特罗宁治疗EGFR外显子14错义突变的晚期NSCLC：一例报告及文献复习
Jing-Yao Luo,Jie Xiang,Xian-Liang Hong et al.
Jing-Yao Luo et al.
BACKGROUND Epidermal growth factor receptor (EGFR) is a key driver gene in non-small-cell lung cancer (NSCLC), and EGFR tyrosine kinase inhibitors (TKIs) are the standard treatment for classical mutations, including exon 19 deletion and exo...
Atypical Thyroid Storm Manifesting as Refractory Hypoglycemia and Fulminant Liver Failure in an Older Woman: A Case Report [0.03%]
一例以难治性低血糖和急性肝衰竭为主要表现的非典型甲亢危象老年女性患者的病例报告
Yi-Zhou Jiang,Wan-Lu Ma,Li Zhou
Yi-Zhou Jiang
BACKGROUND Thyroid storm, or thyrotoxic crisis, is an acute and life-threatening manifestation or complication of hyperthyroidism that may involve sudden multisystem dysfunction. For these reasons, the initial diagnosis can be challenging. ...
Sexsomnia in a Young Man: A Non-REM Parasomnia With Diagnostic and Therapeutic Challenges [0.03%]
青年男性睡行症病例报告：一起非快动眼睡眠异态心理行为障碍的诊断和治疗挑战
Mada Bijad Almutairi,Lama Abdullah Alhomayin,Mana Mubarak Alshahrani
Mada Bijad Almutairi
BACKGROUND Sexsomnia, a subtype of non-REM (NREM) parasomnia, consists of atypical sexual behaviors during sleep and presents with diagnostic and therapeutic challenges due to its under-recognition and overlap with other sleep and psychiatr...
Anesthesia Management in a Patient With a History of Fulminant Malignant Hyperthermia and a Homozygous RYR1 p.Arg530His Variant Undergoing Laparoscopic Surgery: A Case Report [0.03%]
一例拉维尼恶性高热病史患者（RYR1 c.1589C>A纯合突变）全麻下腹腔镜手术的麻醉管理：个案报告
Yuki Murao,Keiko Mukaida,Hiroshi Kondo et al.
Yuki Murao et al.
BACKGROUND Malignant hyperthermia (MH) is a rare but potentially fatal pharmacogenetic disorder triggered by volatile anesthetics or suxamethonium, most commonly associated with variants in the ryanodine receptor type 1 (RYR1) gene. Patient...
Obstruction of the Biliary Limb of the Roux Loop After Successful Kasai Portoenterostomy for Biliary Atresia: Report of Two Cases [0.03%]
成功完成 kasai 胆肠吻合术后 roux 环胆道 limb 障碍两例报告
Cheryl H Q Chong,Yang Yang Lee,Vidyadhar Padmakar Mali
Cheryl H Q Chong
BACKGROUND Stasis within the biliary limb of the Roux loop is rarely reported after successful Kasai portoenterostomy (KPE) for biliary atresia (BA). CASE REPORT This retrospective report describes 2 children (cases 1 and 2, aged 47 and 42 ...
Capnocytophaga canimorsus Bacteremia Without Animal Bite: A Rare but Severe Infection to Consider in Older Adults [0.03%]
从未被动物咬伤的犬类血杆菌菌血症：老年人群中一种罕见但严重需考虑的感染
Mostafa Hadid,Julien Soret,Marie Sugier et al.
Mostafa Hadid et al.
BACKGROUND Capnocytophaga canimorsus is a gram-negative bacillus found in the oral cavity of dogs and cats. Human infection is uncommon but can cause severe sepsis. Although classically associated with asplenia, alcohol use disorder, or imm...
An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review [0.03%]
孤立性结肠神经纤维瘤一例并文献复习
Hussain Ahmed Alessa,Tahar Yacoubi,Abdulrahman Almutawa et al.
Hussain Ahmed Alessa et al.
BACKGROUND Solitary neurofibromas of the colon are extremely rare and are most often reported in patients with neurofibromatosis type 1 (NF1). Although usually benign, these lesions can rarely undergo malignant transformation, particularly ...