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Abdominal hemorrhage and vascular fragility associated with neurofibromatosis type 1.
Jpn J Radiol
January 2025
Department of Radiology, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-machi, Yufu, Oita, 879-5593, Japan.
We report a case of recurrent abdominal bleeding associated with vascular fragility in a 67-year-old woman with neurofibromatosis type 1 (NF-1). Computed tomography (CT) scan revealed hemorrhagic ascites and a pseudoaneurysm of the sigmoid colon artery, which was suspected to be the source of bleeding. Emergency laparotomy confirmed extremely fragile vessels, requiring repeated surgeries for recurrent bleeding.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDF[Efficacy and safety of microsurgery in patients with Gustilo ⅢC open fractures].
Zhongguo Gu Shang
January 2025
Department of Orthopaedics, Fudan University Affiliated Zhongshan Hospital Wusong Hospital, Shanghai 200940, China.
Objective: To analyze the clinical efficacy and safety of microsurgery in patients with Gustilo ⅢC open fractures.
Methods: A total of 64 patients with Gustilo ⅢC open fractures who were admitted to the hospital bewteen September 2018 and March 2022 were included, and divided into the observation group and the control group, with 32 cases in each one. In the observation group, there were 24 males and 8 females, aged from 29 to 42 years with an average of (36.
Nasolabial flap with mucous membrane for repairing extensive lower lip tissue defect: A case report.
J Craniomaxillofac Surg
January 2025
The Department of Oral and Maxillofacial Surgery, Hospital of Stomatology, Jilin University, Changchun, China. Electronic address:
The structural integrity of the lips is essential for both aesthetic appeal and oral functionality. Defects in this region, which may arise from a variety of causes, can significantly affect a patient's physical and psychological well-being. This case report introduces a novel surgical technique designed for the repair of substantial defects in the lower lip.
View Article and Find Full Text PDF[Repair and reconstruction of anterior tongue defect with triangular muscle triangular flap: a case report].
Zhonghua Kou Qiang Yi Xue Za Zhi
January 2025
Department of Oral and Maxillofacial Surgery, The Second Xiangya Hospital, Central South University, Changsha 410011, China.
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