Practical guide for the diagnosis and management of primary ciliary dyskinesia.

Objective: Primary ciliary dyskinesia (PCD) is a relatively rare genetic disorder that affects approximately 1 in 20,000 people. Approximately 50 genes are currently known to cause PCD. In light of differences in causative genes and the medical system in Japan compared with other countries, a practical guide was needed for the diagnosis and management of Japanese PCD patients.

Small Bowel Obstruction Caused by Migration of Fractured Metal Stent in Patients with Malignant Gastric Outlet Obstruction: A Report of Two Cases and Review of the Literature.

Gastroduodenal stenting (GDS) is a less invasive alternative to gastrojejunostomy for the management of malignant gastric outlet obstruction (mGOO). GDS is a minimally invasive treatment with good technical and clinical success, and severe complications that require surgical intervention are rare. Stent fracture is an uncommon complication associated with GDS; however, migration of the fractured distal segment can result in small bowel obstruction.

Cardiac 18F‑FDG uptake and new‑onset rectal cancer.

The present study aimed to investigate the factors affecting the cardiac uptake of 18F-fluorodeoxyglucose (18F-FDG) during 18F-FDG positron emission tomography (PET) for new-onset rectal cancer and new-onset colon cancer (ascending, transverse, descending, sigmoid colon cancer) and to examine the association between the cardiac uptake of 18F-FDG and prognosis. The participants were diagnosed with new-onset rectal cancer and new-onset colon cancer (ascending, transverse, descending, sigmoid cancer) at the Iga City General Hospital (Iga, Japan) between January 1, 2013, and March 31, 2018, and underwent an 18F-FDG PET scan for pretreatment staging. The relationship between cardiac maximum standard uptake value (SUVmax), the presence/absence of distant metastasis and prognosis was examined.

Central sensitization as a predictive factor for the surgical outcome in patients with lumbar spinal stenosis: a multicenter prospective study.

Purpose: The impact of central sensitization (CS) on neurological symptoms and surgical outcomes in patients with lumbar spinal stenosis (LSS) remains unknown. This study aimed to investigate the influence of preoperative CS on the surgical outcomes of patients with LSS.

Methods: A total of 197 consecutive patients with LSS (mean age 69.

Influence of Central Sensitization on Surgical Outcomes of Patients With Degenerative Cervical Myelopathy After Posterior Decompression Surgery: A Multicenter Prospective Study.

Study Design: Multicenter prospective study.

Objective: The influence of central sensitization (CS) on neurological symptoms and surgical outcomes in patients with degenerative cervical myelopathy (DCM) remains unknown. This study aimed to investigate the effects of preoperative CS on surgical outcomes of patients with DCM following posterior decompression surgery.

Psychological characteristics of Japanese patients and their family members receiving genetic counseling: A single-institute exploratory study.

In Japan, clinical genetic services became available in the 1970s, and genomic medicine, including genetic counseling (GC), developed rapidly. However, research on the outcomes of GC in Japan is limited. Japan has a unique cultural context, and appropriate GC methods have not yet been optimized for this population.

The Changes in the F FDG Metabolism in the Muscles by the Use of Cuboid Support Insoles.

Healthy men aged 55,39, 23.45 years were administered 18F-fluorodeoxyglucose (F-FDG) after fasting for over 5 h; then, a 30-min self-paced walking (6-min walk and 2-min rest + 6-min walk and 2-min rest + 6-min walk and 2-min rest + 6-min walk) session was performed. While walking, the same athletic shoes were used, same with walking supports, flat insoles, and cuboid support insoles (BMZ Inc.

Anti-inflammatory and nutritional improvement effects of dietary supplementation combined with fish oil in patients with epithelial cancer.

The present study investigated the effects of dietary supplementation combined with fish oil containing relatively low levels of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) on the inflammatory and nutritional status of patients with epithelial cancer. Fish oil capsules (498 mg EPA and 213 mg DHA) and dietary supplements (100 kcal and 5 g protein) were administered for 8 weeks to 20 patients with cancer and inflammation [C-reactive protein (CRP) ≥0.30 mg/dl].

Investigation of miRNA expression profiles using cohort samples reveals potential early detectability of colorectal cancers by serum miR-26a-5p before clinical diagnosis.

Previous studies have investigated the usefulness of microRNA (miRNA/miR) expression data for the early detection of colorectal cancer (CRC). However, limited data are available regarding miRNAs that detect CRC before clinical diagnoses. Accordingly, the present study investigated the early detectability of CRC by miRNAs using the preserved serum samples of the cohort participants affected with CRC within 2 years of study enrollment.

Precision cancer genome testing needs proficiency testing involving all stakeholders.

To implement precision oncology, analytical validity as well as clinical validity and utility are important. However, proficiency testing (PT) to assess validity has not yet been systematically performed in Japan. To investigate the quality of next-generation sequencing (NGS) platforms and cancer genome testing prevalent in laboratories, we performed pilot PT using patient samples.

Evaluation of Central Sensitization Inventory in Patients Undergoing Elective Spine Surgery in a Multicenter Study.

Study Design: This study is a retrospective review.

Objective: Central sensitization (CS) is a neurological phenomenon that involves hypersensitivity of the central nervous system. The central sensitization inventory (CSI) was developed as a screening tool to assess CS-related symptoms.

HER2-positive adenocarcinoma arising from heterotopic pancreas tissue in the duodenum: A case report.

Background: Adenocarcinoma originating from heterotopic pancreas tissue is a rare disease. Furthermore, to our knowledge, no HER2-positive cases in the duodenum have been reported in the scientific literature nor has the efficacy of trastuzumab treatment for the disease been reported.

Case Summary: A 65-year-old woman whose clinical diagnosis was unresectable advanced duodenal cancer with HER2 overexpression responded well to trastuzumab chemotherapy.

Lymphocyte-C-reactive Protein Ratio as Promising New Marker for Predicting Surgical and Oncological Outcomes in Colorectal Cancer.

Background: Systemic inflammation via host-tumor interactions is currently recognized as a hallmark of cancer. The aim of this study was to evaluate the prognostic value of various combinations of inflammatory factors using preoperative blood, and to assess the clinical significance of our newly developed inflammatory score in colorectal cancer (CRC) patients.

Method: In total 477 CRC patients from the discovery and validation cohorts were enrolled in this study.

Effects of Protein-Energy Wasting (PEW) and hyperphosphatemia on the prognosis in Japanese maintenance hemodialysis patients: A five-year follow-up observational study.

Background & Aims: In dialysis patients, malnutrition is a poor prognostic factor. In patients with chronic kidney disease (CKD), malnutrition is qualitatively different from general malnutrition, which is defined as "Protein-Energy Wasting (PEW)." Dietary therapy for the enhancement of PEW requires the aggressive intake of protein.

Polymorphisms in and have no significant effect on plasma carnitine levels in Japanese cancer patients.

Treatment of cancer patients undergoing chemotherapy with L-carnitine (LC) supplementation is becoming increasingly popular in the clinic. The present study aimed to examine the possible effects of polymorphisms in and ( G320D, S427C, c.282-18 C>T, and p.

Genetic influence of cytokine polymorphisms on the clinical outcome of Japanese gastrointestinal cancer patients in palliative care.

Gastrointestinal cancer is one of the most common causes of mortality globally. The present study examined the influence of cytokine genetic polymorphisms [interleukin ( C-31T, VNTR, C-634G, T-251A, T-819C and A-1082G] on clinical outcomes in patients with gastrointestinal cancer in palliative care. A total of 59 patients with gastrointestinal cancer who were admitted to Iga City General Hospital were analyzed.

Polymorphisms in folic acid metabolism genes do not associate with cancer cachexia in Japanese gastrointestinal patients.

We used clinical data from Iga General Hospital to examine the association between polymorphisms in () A2756G (rs1805087), () His595Tyr (rs10380), () C677T (rs1801133), A1298C (rs1801131) and () C1420T (rs1979277), which are genes involved in folate metabolism, and the risk of weight loss in patients with gastrointestinal cancers, with the aim of establishing personalized palliative care for each patient based on genetic information. The data from 59 patients (37 males and 22 females) with gastrointestinal cancers who visited the outpatient clinic for cancer chemotherapy and palliative care at Iga General Hospital from December 2011 to August 2015 were analyzed. There was no significant association between the single nucleotide polymorphisms (SNPs) in the folate metabolizing genes examined and weight loss defined as weight loss of more than 5 percent or more than 10 percent during the first 6 months after initiation of chemotherapy.

Identification of Predictors of Recurrence in Patients with Lower Rectal Cancer Undergoing Neoadjuvant Chemotherapy: A Direct Comparison of Short-Course and Long-Course Chemoradiotherapy.

Objective: This study aimed to investigate clinicopathological responses and oncological outcome in patients receiving short- or long-course chemoradiotherapy (CRT) and to assess the predictive factor for recurrence in each treatment.

Methods: A total of 118 rectal cancer patients receiving preoperative CRT were enrolled. Clinicopathological responses and oncological outcome in patients receiving short- or long-course CRT were investigated.

Colony-stimulating factor-1 and colony-stimulating factor-1 receptor co-expression is associated with disease progression in gastric cancer.

Colony‑stimulating‑factor‑1 (CSF‑1) is a hematopoietic growth factor that exerts its effects through the c‑fms/CSF‑1 receptor (CSF‑1R). The CSF‑1/CSF‑1R axis is thought to be involved in the development of several types of cancer. This study aimed to clarify the clinical and biological significance of the CSF‑1/CSF‑1R axis in gastric cancer (GC).

Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

Objective Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited disease characterized by ventricular arrhythmias induced by physical exercise or emotional stress. The major cause of CPVT is mutations in RYR2, which encodes the cardiac ryanodine receptor channel. Recent advances in sequencing technology have yielded incidental findings of RYR2 variants in other cardiac diseases.

Body fat mass is correlated with serum transthyretin levels in maintenance hemodialysis patients.

Serum transthyretin (TTR), also known as prealbumin, is a reliable nutritional indicator and an independent prognostic factor for maintenance hemodialysis patients. However, we recently reported that serum TTR levels did not affect protein-energy wasting (PEW). In this study, we investigated factors affecting serum TTR levels in 60 maintenance hemodialysis patients.

Fish oil-enriched nutrition combined with systemic chemotherapy for gastrointestinal cancer patients with cancer cachexia.

Despite recent advances in chemotherapy for gastrointestinal cancer, a crucial factor related to poor prognosis is reduced tolerance to chemotherapy induced by cancer cachexia. Fish oil (FO)-derived eicosapentaenoic acid (EPA) modulates inflammation in patients with various malignancies; however, the impact of FO-enriched nutrition as a combined modality therapy on clinical outcomes remains controversial. We systemically analysed chronological changes in biochemical and physiological status using bioelectrical impedance analysis in 128 gastrointestinal cancer patients provided with or without FO-enriched nutrition during chemotherapy.