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e long-term treatment process, and must press formulary standard medication, and do not voluntarily withdraw or reduce the dose. Otherwise it may cause disease back-and-forth or serious life-threatening complications. Meanwhile, strict management of trauma, infections, tumors, and other diseases may contribute to improved outcomes in patients with complications.

Dubin-Johnson syndrome (DJS) is a benign autosomal recessive liver disease involving mutations of the

gene. It is characterized by chronic or intermittent conjugated hyperbilirubinemia, with chronic idiopathic jaundice as the main clinical manifestation. Genetic alterations of the

gene are commonly used for diagnosing DJS; however, the causative

point mutation in Chinese patients remains unknown. Research on

mutations in Chinese DJS patients is extremely rare, and the diagnosis of DJS remains limited. PLX8394 cell line The routine analysis of

mutations is helpful for the diagnosis of DJS. Here, we report the clinical characteristics and

genotype of an adult female DJS patient. This article is to expound the discovery of more potentially pathogenic

variants will that contribute to DJS identification.

This study investigated a woman referred for DJS and involved clinical and genetic analyses.

mutations were identified by next-generation sequencing (NGS). The patient showed intermittent jaundice and conjugated hyper-bilirubinemia. Histopathological examinations were consistent with the typical phenotype of DJS. Genetic diagnostic analysis revealed an

genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature.

Pathogenic

mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.

Pathogenic ABCC2 mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.

Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I.

We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I. Magnetic resonance imaging (MRI) was performed after bolus injection of gadoxetate disodium, a liver-specific gadolinium-based MRI contrast agent. In the present cases, some of the hepatocellular adenomas showed unexpectedly a “bull’s eye” appearance on T2-weighted and post-contrast images, which was not previously described as imaging findings of hepatocellular adenomas in glycogen storage disease. A bull’s eye appearance on T2-weighted images can be encountered in both benign (

, abscess) or malignant (

, epithelioid hemangioendothelioma, cholangio-carcinoma, and metastases) hepatic lesions.

We present two cases of hepatocellular adenomas in patients with glycogen storage disease type 1, in which gadoxetate disodium-MRI showed atypical imaging findings for hepatocellular adenomas. At present there is no systematic study evaluating MRI findings of hepatocellular adenomas in patients with glycogen storage disease, further studies are needed to specifically investigate this issue.

We present two cases of hepatocellular adenomas in patients with glycogen storage disease type 1, in which gadoxetate disodium-MRI showed atypical imaging findings for hepatocellular adenomas. At present there is no systematic study evaluating MRI findings of hepatocellular adenomas in patients with glycogen storage disease, further studies are needed to specifically investigate this issue.

Treatment for neck lymph node metastases after adequate initial surgery in medullary thyroid carcinoma (MTC) has been controversial. Ultrasound (US)-guided radiofrequency ablation (RFA) has been widely used in recurrent well-differentiated thyroid carcinoma. Here, we report for the first time the use of RFA in a patient with recurrent MTC.

We report the case of a 56-year-old woman with cervical lymph node metastases of MTC. Four years previously, she had undergone a total thyroidectomy and neck lymph node dissection. A neck US revealed many enlarged nodes during the follow-up period. Moreover, the serum calcitonin jumped to 198.17 pg/mL, which strongly indicated the recurrence of MTC. Subsequently, two metastatic lymph nodes were confirmed by US-guided fine-needle aspiration-cytology and fine-needle aspiration-calcitonin, and then the patient was treated with RFA. Four months later, the neck US and a contrast-enhanced US showed obvious shrinkage in the ablation zones, and the serum calcitonin dropped to 11.80 pg/mL.

This case suggests that RFA may be an effective and safe treatment for local recurrent MTC.

This case suggests that RFA may be an effective and safe treatment for local recurrent MTC.

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood. Serious cardiovascular complications can be life-threatening events for affected patients and the cause of early death. Herein we report a HGPS patient with osteosarcoma hat was successfully managed and is alive 13 years after the diagnosis. This is the first report describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with HGPS.

The patient was diagnosed with HGPS at 5 years of age with typical features and was referred to our department with a suspected bone tumor of the left proximal tibia at the age of 18. Open biopsy of the tibial bone tumor revealed a conventional fibroblastic osteosarcoma. We have developed and performed a freezing technique using liquid nitrogen for tumor reconstruction. This technique overcame the small size of the tibia for megaprosthesis and avoided amputation and limb salvage was achieved 13 years post-operatively.