Aggressive variant of splenic marginal zone lymphoma characterized using a cancer panel test and treated with rituximab-containing chemotherapy: A case report.

Rationale: Aggressive variant of splenic marginal zone lymphoma (AV-SMZL) is a very rare disease that is often associated with TP53 mutations and has a poor prognosis. On the other hand, recent advances in genome sequencing techniques enable us to understand the molecular characteristics of rare cancers such as AV-SMZL. Here we present a case of AV-SMZL analyzed using a genetic test.

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.

Silver-Russell syndrome (SRS) is a representative imprinting disorder. A major cause is the loss of methylation (LOM) of imprinting control region 1 (ICR1) within the domain. ICR1 is a gametic differentially methylated region (DMR) consisting of two repeat blocks, with each block including three CTCF target sites (CTSs).

[Primary biliary cholangitis complicated by primary hepatic extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue].

An 89-year-old woman was admitted to our hospital owing to liver dysfunction and ascites. Enhanced computed tomography (CT) revealed hepatomegaly and heterogeneous density in the liver. 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) /CT revealed diffuse accumulation of FDG throughout the liver.

Correlation between habitual dietary fibre intake and postprandial plasma glucose levels in early adulthood.

Increasing dietary fibre (DF) intake through a habitual diet is recommended for preventing diabetes. To investigate a stepwise approach to nutrition education on DF intake among young adults in Japan with the largest deficit in habitual DF intake from the recommended value. Plasma glucose levels were measured in 54 adults in their 20s and 30s (29 men, 25 women) during fasting and at 30, 60, 90, and 120 minutes.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Split-hand/foot malformation (SHFM) is a clinically and genetically heterogeneous condition. We sequentially performed screening of the previously identified Japanese founder 17p13.3 duplication/triplication involving BHLHA9, array comparative genomic hybridization, and whole exome sequencing (WES) in newly recruited 41 Japanese families with non-syndromic and syndromic SHFM.

Characteristics of intensity-based physical activity according to gait ability in people hospitalized with subacute stroke: a cross-sectional study.

Objective: Gait ability may be related to the level of intensity-based physical activity in people who have experienced a stroke; however, this relationship has not been explored in previous studies. This study aimed to investigate the characteristics of intensity-based physical activity according to gait ability and to explore the factors related to different intensity physical activity.

Method: Eighty hospitalized participants with subacute stroke were assigned to three groups based on their gait ability: group 1 (n = 28) could walk independently with a maximal gait speed (MGS) of more than 0.

Characteristics and perceptions of twice-weekly webinars for primary care physicians in Japan: a qualitative study.

Objectives: To explore the characteristic features and perceived value of free twice-weekly webinars predominantly focusing on the continuing professional development of primary care physicians in Japan.

Methods: In this qualitative study, we conducted a focus group of the webinars' participants (n=6, a purposive sample). The discussion was recorded, with the recording subsequently transcribed, separated into meaningful segments and then open-coded until thematic saturation was reached.

Early therapeutic effects of adaptive servo-ventilation on cardiac sympathetic nervous function in patients with heart failure evaluated using a combination of C-HED PET and I-MIBG SPECT.

Rationale: Adaptive servo-ventilation (ASV), a novel respiratory support therapy for sleep disorders, may improve cardiac function in heart failure (HF). However, the reasons that ASV improves cardiac function have not been fully studied especially in sympathetic nervous function (SNF). The purpose of the present study was to investigate the effects of ASV therapy on cardiac SNF in patients with HF.

Near Tetraploidy Acute Myeloid Leukemia in Long-term Remission with Persistent Clonal Hematopoiesis with del(20)(q12q13).

Patients with near tetraploidy/tetraploidy (NT/T)-acute myeloid leukemia (AML) are rare and generally show poor survival. A 62-year-old man was referred to our hospital with pancytopenia. A bone marrow examination revealed the proliferation of extremely large blasts, and led to the diagnosis of AML M0.

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented.

Single-stage operation for perforated choledochal cyst.

Background: The option of either single- or two-staged cyst excision has been proposed for perforated choledochal cysts (CCs), but which of the two methods is more effective remains controversial. We examined the complications and short-term outcomes of single-stage excision of perforated and non-perforated CCs.

Methods: The medical records of patients treated for CCs from 2003 to 2016 were retrospectively reviewed.

Concentration of Sulfate and Glucuronide Conjugates of Ritodrine in Twin Pregnancy.

Ritodrine, a drug for the treatment of threatened premature labor, is a highly selective beta-2 agonist with the major metabolites of sulfate and glucuronide conjugates. This study investigated the continuous evaluation of the concentration of ritodrine conjugates in relation to the clinical course in twin pregnancy. The subjects were 9 twin-pregnancy mothers who delivered after receiving ritodrine treatment between April 2012 and December 2013.

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan.

Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

We report two Japanese patients with Schinzel-Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.

Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.

Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated.

Synchronous Occurrence of Diffuse Large B-cell Lymphoma of the Duodenum and Gastrointestinal Stromal Tumor of the Ileum in a Patient with Immune Thrombocytopenic Purpura.

A 64 year-old woman with steroid-dependent immune thrombocytopenia developed anemia. Esophagogastroduodenoscopy revealed the presence of a tumor, which was diagnosed to be diffuse large B-cell lymphoma, in the second portion of the duodenum. F-fluorodeoxy glucose positron emission tomography showed an increased uptake mass in the pelvic cavity as well as in the duodenum.

A Multicenter Retrospective Study of Mogamulizumab Efficacy in Adult T-Cell Leukemia/Lymphoma.

Background: Mogamulizumab, a defucosylated humanized monoclonal antibody targeting C-C chemokine receptor 4, recently became available for the treatment of adult T-cell leukemia/lymphoma (ATL). We conducted a multicenter retrospective study of the efficacy of mogamulizumab in ATL treatment in patients on Hokkaido Island, Japan.

Materials And Methods: A total of 125 patients with ATL treated from January 2010 to December 2014 in 20 hospitals affiliated with the Hokkaido Hematology Study Group were enrolled in the present retrospective study.

Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.

Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally.