Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

Background: Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns.

Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study.

The patient was a 26-year-old male. He had red and scaling skin of the entire body since birth, as well as an elevated level of serum IgE. Genetic testing revealed a mutation in the SPINK5 gene, which had confirmed the diagnosis with Netherton syndrome.

Bortezomib-cyclophosphamide-dexamethasone induction/consolidation and bortezomib maintenance for transplant-eligible newly diagnosed multiple myeloma: phase 2 multicenter trial.

Objectives: We conducted a phase II trial to prospectively evaluate the efficacy and safety of bortezomib-cyclophosphamide-dexamethasone (VCD) induction, autologous stem cell transplantation (ASCT), VCD consolidation, and bortezomib maintenance in transplant-eligible newly diagnosed multiple myeloma (NDMM) patients in Japan (UMIN000010542).

Methods: From 2013 to 2016, 42 patients with a median age of 58 (range 42-65) years with NDMM were enrolled in 15 centers. The primary endpoint was the complete response (CR) /stringent CR (sCR) rate after transplantation, and overall/progression-free survival rates were also evaluated.

Characteristics and potential quality indicators for evaluating pre-travel consultations in Japan hospitals: the Japan Pretravel consultation registry (J-PRECOR).

Background: Awareness of pre-travel consultations (PTCs) and prevention methods for overseas travel-related diseases, and the understanding of PTCs among Japanese travelers and medical professionals remains low in Japan. A multicenter registry was established to examine PTCs in Japan. This study assessed the PTC implementation rate and examined the indicators of PTCs that can be used as criteria for evaluating quality.

Mesenteric closure after laparoscopic total gastrectomy with Roux-en-Y reconstruction is effective for prevention of internal hernia: a multicenter retrospective study.

Background: Internal hernia (IH) is one of the critical complications after gastrectomy with Roux-en-Y reconstruction, which can be prevented by closing mesenteric defects. However, only few studies have investigated the incidence of IH after laparoscopic total gastrectomy (LTG) with Roux-en-Y reconstruction for gastric cancer till date. This study aimed to assess the efficacy of defect closure for the prevention of IH after LTG.

The Japanese Clinical Practice Guidelines for Management of Sepsis and Septic Shock 2020 (J-SSCG 2020).

The Japanese Clinical Practice Guidelines for Management of Sepsis and Septic Shock 2020 (J-SSCG 2020), a Japanese-specific set of clinical practice guidelines for sepsis and septic shock created as revised from J-SSCG 2016 jointly by the Japanese Society of Intensive Care Medicine and the Japanese Association for Acute Medicine, was first released in September 2020 and published in February 2021. An English-language version of these guidelines was created based on the contents of the original Japanese-language version. The purpose of this guideline is to assist medical staff in making appropriate decisions to improve the prognosis of patients undergoing treatment for sepsis and septic shock.

Hepatic Hodgkin Lymphoma Presenting as Solitary Hepatic Mass Following Other Iatrogenic Immunodeficiency-Associated Lymphoproliferative Disorder in a Patient With Rheumatoid Arthritis.

Lymphoproliferative disorders (LPDs) occur frequently in patients with rheumatoid arthritis (RA) under methotrexate treatment. Some LPDs spontaneously regressed after methotrexate discontinuation, but classic Hodgkin lymphoma (CHL)-type LPDs frequently relapse, and chemotherapy is usually required for the treatment. CHL usually spreads in contiguous lymph nodes and then infiltrates in organs at an advanced stage.

Objective evaluation of nutritional status using the prognostic nutritional index during and after chemoradiotherapy in Japanese patients with head and neck cancer: a retrospective study.

Objectives: The incidence of severe mucosal damage due to low nutritional status is high in patients receiving concurrent chemoradiotherapy (CCRT) for head and neck cancer. Objective assessments do not exist for discharge criteria after completion of CCRT. Although the prognostic nutritional index (PNI) is an objective indicator of postoperative outcomes in patients undergoing cancer surgery, the prognostic impact of the PNI in patients with head and neck cancer receiving CCRT is unexplored.

Impact of pre-treatment C-reactive protein level and skeletal muscle mass on outcomes after stereotactic body radiotherapy for T1N0M0 non-small cell lung cancer: a supplementary analysis of the Japan Clinical Oncology Group study JCOG0403.

This study aimed to evaluate the impact of pretreatment C-reactive protein (CRP) and skeletal muscle mass (SMM) on outcomes after stereotactic body radiotherapy (SBRT) for T1N0M0 non-small cell lung cancer (NSCLC) as a supplementary analysis of JCOG0403. Patients were divided into high and low CRP groups with a threshold value of 0.3 mg/dL.

The association between late-phase early recurrence within the blanking period after atrial fibrillation catheter ablation and long-term recurrence: Insights from a large-scale multicenter study.

Background: The relationship between the timing of the first early recurrence and late recurrence after a single catheter ablation procedure for atrial fibrillation is controversial.

Methods: The Efficacy of Short-Term Use of Antiarrhythmic Drugs After Catheter Ablation for Atrial Fibrillation trial followed 2038 patients who underwent radiofrequency catheter ablation for atrial fibrillation.

Results: Of the patients, 907 (45%) had early recurrences within 90 days after the initial ablation.

Nonrecurrence Rate of Underwater EMR for ≤20-mm Nonampullary Duodenal Adenomas: A Multicenter Prospective Study (D-UEMR Study).

Background And Aims: Endoscopic resection of nonampullary duodenal adenoma is often challenging, and its technique has not yet been standardized. To overcome the practical difficulty of conventional endoscopic mucosal resection, underwater endoscopic mucosal resection (UEMR) was recently developed; therefore, we investigated the effectiveness and safety of UEMR for nonampullary duodenal adenoma.

Methods: A multicenter, prospective cohort study was conducted at 21 institutions in Japan.

Successful ixazomib treatment for relapsed and refractory acute myeloid leukemia transformed from myelodysplastic syndrome.

Elevated NF-kB levels have been identified in primitive bone marrow cells from patients with MDS/AML, suggesting NF-kB as a therapeutic target in MDS/AML. We herein describe an MDS patient ineligible for SCT who, following treatment with azacitidine and bortezomib, transformed to leukemia, but maintained complete remission after monotherapy with ixazomib.

Urethral Tuberculosis: A Forgotten Cause of Urethral Stricture.

We describe the clinical features of a 75-year-old man who presented to our hospital with frequent urination for 3 months. Retrograde urethrography showed extended and continuous narrowing of the stricture in the anterior urethra. Cystourethroscopy showed extended narrowing of the urethral lumen without normal membrane.

Very Short Dual Antiplatelet Therapy After Drug-Eluting Stent Implantation in Patients Who Underwent Complex Percutaneous Coronary Intervention: Insight From the STOPDAPT-2 Trial.

Background: Safety and efficacy of clopidogrel monotherapy after very short dual antiplatelet therapy (DAPT) is uncertain in patients undergoing complex percutaneous coronary intervention (PCI).

Methods: We conducted a post hoc subgroup analysis based on the complexity of PCI in the STOPDAPT-2 trial (Short and Optimal Duration of Dual Antiplatelet Therapy-2), which randomly compared 1-month DAPT followed by clopidogrel monotherapy with 12-month DAPT after cobalt-chromium everolimus-eluting stent implantation. Complex PCI was defined as any of the following: 3 vessels treated, ≥3 stents implanted, ≥3 lesions treated, bifurcation with 2 stents, >60 mm total stent lengths, and target of chronic total occlusion.

Association between the confluent form of pancreatic and bile duct and histopathological findings in pancreaticobiliary maljunction: A case series study.

Introduction: Pancreaticobiliary maljunction (PBM) is a congenital anomaly wherein the persistent reflux of the pancreatic juice into the biliary tract induces biliary tract cancer. The prediction criteria for gallbladder carcinogenesis have been reported previously through results obtained from examining carcinogenic and non-carcinogenic cases with the parameters that classified each confluent form in PBM. This study aimed to validate these previous study results and provide new recommendations for gallbladder carcinogenesis prevention.

Successful Treatment of Incidental Histiocytic Sarcoma Concomitant with Laryngeal Carcinoma.

Histiocytic sarcoma (HS) is an extremely rare non-Langerhans cell disorder with an aggressive course and limited treatment options. HS most often presents at an advanced clinical stage, with a limited response to chemotherapy and high mortality. No standard treatment has been established for HS.

Corrigendum to "Low-Grade Endometrial Stromal Sarcoma with a Nodule-in-Nodule Appearance in Preoperative Magnetic Resonance Images".

[This corrects the article DOI: 10.1155/2020/8973262.].

Continuous warfarin administration versus heparin bridging therapy in post colorectal polypectomy haemorrhage: a study protocol for a multicentre randomised controlled trial (WHICH study).

Background: Endoscopic removal of colorectal adenoma is considered an effective treatment for reducing the mortality rates associated with colorectal cancer. Warfarin, a type of anticoagulant, is widely used for the treatment and prevention of thromboembolism; however, bleeding may increase with its administration after polypectomy. In recent times, a high incidence of bleeding after endoscopic polypectomy has been reported in patients receiving heparin bridge therapy.

Occurrence and incidence rate of peripheral intravascular catheter-related phlebitis and complications in critically ill patients: a prospective cohort study (AMOR-VENUS study).

Background: The lack of precise information on the epidemiology of peripheral intravascular catheter (PIVC)-related phlebitis and complications in critically ill patients results in the absence of appropriate preventive measures. Therefore, we aimed to describe the epidemiology of the use of PIVCs and the incidence/occurrence of phlebitis and complications in the intensive care unit (ICU).

Methods: This prospective multicenter cohort study was conducted in 23 ICUs in Japan.

Hypofractionated intensity-modulated radiotherapy with concurrent chemotherapy for elderly patients with locally advanced pancreatic carcinoma.

Background: It is important to understand how elderly patients with locally advanced pancreatic carcinoma (LAPC) should be treated, since the number of elderly cancer patients will increase. However, the optimal treatment for elderly patients with LAPC remains unclear. The purpose of this study was to evaluate the efficacy and safety of hypofractionated intensity-modulated radiotherapy (IMRT) with concurrent gemcitabine for elderly patients with LAPC.

Successful temporary resection of a ruptured hepatoblastoma without preoperative chemotherapy: A case report presenting a novel surgical strategy.

Introduction: Although spontaneous tumor rupture is a serious complication of hepatoblastoma, there is no consensus regarding the treatment strategy in infants. We report a patient with lung metastases who had a ruptured hepatoblastoma prior to the start of the scheduled chemotherapy and was successfully treated with a combined treatment including liver resection, lung resection, and chemotherapy.

Presentation Of Case: A 22-month-old boy with a ruptured hepatoblastoma and lung metastases underwent an emergency laparotomy with complete tumor resection, followed by chemotherapy.

Large medial proximal tibial angles cause excessively medial tibiofemoral contact forces and abnormal knee kinematics following open-wedge high tibial osteotomy.

Background: Recurrent varus deformity and poor outcome sometimes occur following open-wedge high tibial osteotomy, but the mechanism remains unclear. The hypothesis of this study was that an excessively large medial proximal tibial angle with lateral joint surface inclination can worsen postoperative knee biomechanics.

Methods: A computer-simulated knee model was validated based on a volunteer knee.