[Epigenome Diagnosis of Cancer-Focusing on Genome-Wide DNA Methylation Diagnosis of Colorectal Cancer for Predicting Sensitivity of Anti-EGFR Antibody Treatment].

Epigenetic regulation mechanisms such as DNA methylation and histone acetylation are important for controlling various biological phenomena by regulating gene expression at the genome level. They are reversible systems that change depending on environmental factors. Epigenetic abnormalities are associated with the onset of various diseases, including developmental and aging abnormalities, neurological disorders, and malignant tumors.

A case of long-term survival of SADDAN treated with growth hormone for marked short stature.

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a bone dysplasia caused by a pathogenic variant of fibroblast growth factor receptor 3 (). Pathogenic variants in also cause thanatophoric dysplasia (TD) and achondroplasia. Although the findings of SADDAN and TD during the fetal and neonatal periods are similar, they differ in their long-term prognoses.

Clinical characteristics and prognosis of patients with incidentally discovered chest wall sarcoma compared with those of symptomatic patients.

Objective: Sarcomas of the bone and soft tissues are detected after the onset of pain, detectable mass and related symptoms in the absence of a standardized screening examination. However, primary chest wall sarcomas can be incidentally detected upon chest X-ray or computed tomography. Previous studies of incidental primary chest wall sarcomas lack prognosis and disease-specific clinical data.

Risk stratification of synchronous gastric cancers including alcohol-related genetic polymorphisms.

Background And Aim: We previously identified that ever-smoking and severe gastric atrophy in pepsinogen are risk factors for synchronous gastric cancers (SGCs). This study aimed to determine the association of alcohol drinking status or alcohol-related genetic polymorphism with SGCs and also stratify their risk.

Methods: This multi-center prospective cohort study included patients who underwent endoscopic submucosal dissection for the initial early gastric cancers at 22 institutions in Japan.

Assessment of clinical and radiological characteristics of Japanese patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome.

Objective: This study aimed to analyse the radiological characteristics and clinical diversity of Japanese patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a heterogeneous disorder.

Methods: Radiographs and clinical information from 115 Japanese patients (female/male: 81/34; mean age at onset: 48.7 years) diagnosed with SAPHO syndrome between January 2007 and December 2020 were retrospectively reviewed.

Renal pathology in adult and paediatric population of Japan: review of the Japan renal biopsy registry database from 2007 to 2017.

Background: The Japan Renal Biopsy Registry (J-RBR), a nationwide, web-based, registry system, started in 2007. This study aimed to summarise the epidemiology of biopsy-diagnosed kidney disease in Japan over 10 years.

Methods: We analysed the J-RBR database, from 2007 to 2017.

Polar vasculosis is associated with better kidney outcome in type 2 diabetes with biopsy-proven diabetic kidney disease: A multicenter cohort study.

Aims/introduction: This multicenter cohort study retrospectively assessed the association between polar vasculosis and the progression of diabetic kidney disease (DKD) in type 2 diabetes.

Materials And Methods: We enrolled 811 patients with type 2 diabetes, biopsy-proven DKD, and proteinuria (≥0.15 g/g creatinine [g/day]).

Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).

Introduction: Paget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling due to abnormal osteoclasts. Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A) gene encodes the receptor activator of nuclear factor kappa B (RANK), which has a critical role in osteoclast function. There are five types of rare PDB and related osteolytic disorders due to TNFRSF11A tandem duplication variants so far, including familial expansile osteolysis (84dup18), expansile skeletal hyperphosphatasia (84dup15), early-onset familial PDB (77dup27), juvenile PDB (87dup15), and panostotic expansile bone disease (90dup12).

Tubulointerstitial Nephritis after Using a Sodium-glucose Cotransporter 2 Inhibitor.

We herein report a case of acute kidney injury (AKI) due to tubulointerstitial nephritis (TIN) after starting empagliflozin in a diabetic patient. The patient developed stage 1 AKI with proteinuria and elevated tubulointerstitial markers. A renal biopsy showed acute TIN with lymphocytic infiltration into the interstitium.

Clinicopathologic Features of Mitochondrial Nephropathy.

Introduction: The clinicopathologic characteristics of nephropathy associated with mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of patients with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome who had a genetic mutation confirmed as the cause of MD, defined as mitochondrial nephropathy.

Methods: This nationwide survey included 757 nephrology sections throughout Japan, and consequently, data on 81 cases of mitochondrial nephropathy were collected.

Renal function in Japanese HIV-1-positive patients who switch to tenofovir alafenamide fumarate after long-term tenofovir disoproxil fumarate: a single-center observational study.

Background: Tenofovir disoproxil fumarate (TDF) has a strong antiviral effect, but TDF is known to cause renal dysfunction. Therefore, we are investigating preventing renal dysfunction by replacing TDF with tenofovir alafenamide fumarate (TAF), which is known to be relatively safe to the kidneys. However, the changes in renal function under long-term use of TAF are not known.

Association of decreased physical activity due to the COVID-19 pandemic with new-onset neck pain in survivors of the Great East Japan Earthquake: a prospective cohort study.

Objectives: The COVID-19 pandemic has forced many people to stay at home and to maintain social distancing. This study aimed to assess the association of reduced physical activity during the COVID-19 pandemic with new onset of neck pain (katakori) among a rural Japanese population living in areas damaged by the Great East Japan Earthquake (GEJE).

Design, Setting And Participants: This prospective cohort study has been conducted continuously since 2011 after the GEJE.

Two-year longitudinal trajectory patterns of albuminuria and subsequent rates of end-stage kidney disease and all-cause death: a nationwide cohort study of biopsy-proven diabetic kidney disease.

Introduction: Data on the association between longitudinal trajectory patterns of albuminuria and subsequent end-stage kidney disease (ESKD) and all-cause mortality in diabetic kidney disease (DKD) are sparse.

Research Design And Methods: Drawing on nationally representative data of 329 patients with biopsy-proven DKD and an estimated glomerular filtration rate above 30 mL/min/1.73 m at the time of biopsy, we used joint latent class mixed models to identify different 2-year trajectory patterns of urine albumin to creatinine ratio (UACR) and assessed subsequent rates of competing events: ESKD and all-cause death.

Myeloid cell-derived coagulation tissue factor is associated with renal tubular damage in mice fed an adenine diet.

Patients with chronic kidney disease (CKD) commonly exhibit hypercoagulability. Increased levels of uremic toxins cause thrombogenicity by increasing tissue factor (TF) expression and activating the extrinsic coagulation cascade. TF is induced in monocytes and macrophages under pathological conditions, such as inflammatory diseases.

Serum hemoglobin concentration and risk of renal function decline in early stages of diabetic kidney disease: a nationwide, biopsy-based cohort study.

Background: Prognosticating disease progression in patients with diabetic kidney disease (DKD) is challenging, especially in the early stages of kidney disease. Anemia can occur in the early stages of kidney disease in diabetes. We therefore postulated that serum hemoglobin (Hb) concentration, as a reflection of incipient renal tubulointerstitial impairment, can be used as a marker to predict DKD progression.

A Right Angle Guide for Distal Tuberosity Osteotomy With Medial Open Wedge High Tibial Osteotomy for Varus Knee Osteoarthritis.

Medial open wedge high tibial osteotomy (OWHTO) is usually performed with proximal tuberosity osteotomy or setting the osteotomy line proximal to the tuberosity. However, OWHTO can result in patellofemoral complications due to postoperative patella infera. A new OWHTO technique, biplanar osteotomy with a distal tuberosity osteotomy, was reported in 2004 to prevent postoperative patella infera.

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.

A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss.

Different clinical impact of hyperuricemia according to etiologies of chronic kidney disease: Gonryo Study.

Background: Hyperuricemia is highly prevalent in chronic kidney disease (CKD) patients, but the evidence for a relationship between uric acid (UA) and clinical outcomes in CKD patients is limited and inconsistent. We hypothesized that UA has a different impact on clinical outcomes according to the underlying disease causing CKD.

Methods: This study prospectively investigated the associations between UA and renal and non-renal outcomes according to the underlying disease causing CKD in 2,797 Japanese patients under the care of nephrologists.

Validation and reliability of a Japanese version of the Simple Shoulder Test: a cross-sectional study.

Background: The Simple Shoulder Test (SST) is a widely used patient-reported outcome assessment. The purpose of this study was to develop and validate a Japanese version of the SST (SST-Jp).

Methods: A two-stage observational study was conducted to validate the cross-cultural adaptation of the SST.

Long-term endoscopic surveillance for Barrett's esophagus in Japan: Multicenter prospective cohort study.

Objects: Although a recent study showed the cancer incidence of Barrett's esophagus (BE) to be 1.2%/year in 251 patient-years in Japan, the long-term outcomes remain unclear. The present study estimated the cancer risk of BE in Japan using our original prospective multicenter cohort.