A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis.

A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson's disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.

Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis, gastrointestinal cancers, and lymphomas later in life. An aggressive approach, including colectomy or proctocolectomy, is recommended for the treatment of colorectal cancer. Additionally, partial colectomy with subsequent endoscopic surveillance may be an alternative strategy due to poor patient's condition, although there is no evidence of surveillance endoscopy after partial colectomy for CMMRD. CASE PRESENTATION: A 13-year-old male patient with a history of T-lymphoblastic lymphoma underwent total gastrointestinal endoscopy, which revealed rectal cancer, colorectal polyposis, and duodenal adenoma. Differential diagnosis included constitutional mismatch repair deficiency according to its scoring system and microsatellite instability, and subsequent germline mutation testing for mismatch repair genes confirmed the diagnosis of constitutional mismatch repair deficiency based on a homozygous mutation in mutS homolog 6 (MSH6). The patient and his family refused colectomy due to the high risk of malignancies other than colorectal cancer, which could require radical surgery. Therefore, the patient underwent low anterior resection of the rectosigmoid colon for rectal cancer and intensive surveillance endoscopy for the remaining colon polyposis. During the 3-year period after initial surgery, 130 polyps were removed and the number of polyps gradually decreased during 6-months interval surveillance endoscopies, although only one polyp was diagnosed as invasive adenocarcinoma (pT1). CONCLUSIONS: Our experience of short surveillance endoscopy illustrates that this strategy might be one of options according to patient's condition.

Secular Trend in Thinness Prevalence for 26 Years (1989 - 2014) among High School Runners in Japan.

BACKGROUND: Female distance runners are predisposed to thinness for performance reasons and at greater risk for health-related consequences than the general population. OBJECTIVES: The aim of the study was to evaluate the secular trends in thinness among competitive distance runners in Japanese high schools with sex-specific comparison. METHODS: Body mass index (BMI) were analysed in 9,881 female and 12,786 male runners participating in the annual national road relay races between 1989 and 2014 using the directory of a track and field magazine. The age-specific trends of these variables and the prevalence of thinness were tested by linear and logistic regression, respectively. RESULTS: Although BMI declined significantly among both male and female runners (coefficients: boys, -0.033, -0.030, and -0.032; girls, -0.033, -0.034, and -0.034 [all P < 0.001] in 15.5-, 16.5-, and 17.5-year-olds, respectively), the prevalence of severely thin runners significantly increased only among girls (odds ratios for the yearly change = 1.05 and 1.06 [both P < 0.01] for 16.5- and 17.5-year-olds, respectively). Only 0.13% of male runners were regarded as severely thin throughout the study period. CONCLUSIONS: The results suggested that severely thin girl runners has steadily increased. Surveys on the health consequences of extreme thinness are necessary for the female adolescent runners.