Multiple Functions of <em>Fukutin</em>, the Gene Responsible for Fukuyama Congenital Muscular Dystrophy, Especially in the Central Nervous System

Fukuyama congenital muscular dystrophy (FCMD), accompanying central nervous system (CNS) and ocular anomalies, is the second common muscular dystrophy in Japan, and the responsible gene is fukutin. The lesions are mainly caused by fragile basement membrane/cell membrane due to hypoglycosylation of α-dystroglycan (α-DG), and astrocytes play a crucial role for CNS malformation. On the other hand, since fukutin is expressed almost ubiquitously, diverse functions of fukutin, besides the glycosylation of α-DG, can be considered. As for the CNS, fukutin possibly upregulates cyclin D1 expression as a cofactor of activator protein-1 in astrocytoma. Moreover, fukutin may be involved in the phosphorylation of tau, one of the key proteins of dementia represented by Alzheimer’s disease, in glutamatergic neurons. A presynaptic function in GABAergic neurons is also suggested. Owing to the recent advances of molecular and biochemical techniques, new therapeutic strategies are under consideration, even for brain malformation, which begins to be formed during the first trimester in utero. Recovery of hypoglycosylation of α-DG supposed to be a main therapeutic target, but to know various functions and regulation systems of fukutin might be important for developing suitable therapies

FDG-PET and CT findings of activated brown adipose tissue in a patient with paraganglioma

A 17-year-old female had been complaining of a headache for 6 years. She presented severe hypertension (200/138 mmHg) on admission. CT showed a hypervascular tumor behind the urinary bladder and a swelling of the right internal obturator node. Intense FDG uptakes were identified in the both lesions. High FDG accumulation was also observed in the brown adipose tissue (BAT) throughout the patient's body, and intense contrast enhancement was found in the BAT on CT. The diagnosis was a malignant paraganglioma with obturator node metastasis. The post-surgery FDG-PET/ CT examination revealed that the FDG accumulations in the BAT had completely disappeared. Keywords: Brown adipose tissue, BAT, Paraganglioma, FDG-PET/CT, Contrast-enhanced C

Gastric Signet-Ring Cell Carcinoma That Presented as an Elevated Lesion due to Fibromuscular Obliteration in the Lamina Propria

The widespread use of Helicobacter pylori eradication therapy in recent years has reduced the H. pylori infection rate, indicating that gastric cancer cases diagnosed in the future may be H. pylori-naïve. The typical endoscopic presentation of signet-ring cell carcinoma, which accounts for the majority of H. pylori-naïve gastric cancer cases, is a discolored, flat, or depressed lesion; it is rarely presented as an elevated lesion. In this study, we treated a patient with elevated signet-ring cell carcinoma in an H. pylori-naïve stomach. Histopathological testing after endoscopic submucosal dissection showed proliferation of fibromuscular tissue in the tumor, which may have caused the formation of the elevated lesion

Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report

We treated a 39-year-old Japanese man who was admitted for an abdominal mass. He had had neurofibroma-like skin lesions since childhood. Computed tomography and endoscopic ultrasound results were consistent with a tumor in the small intestine. Although the tumor was undetectable by single-balloon endoscopy, the patient’s background and imaging results led us to suspect a gastrointestinal stromal tumor (GIST). He also met the diagnostic criteria for neurofibroma type 1 (NF1). We performed a surgical removal of the tumor, and the biopsy results led to a definitive diagnosis of GIST. Small bowel GISTs should be considered in cases of NF1