Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Introduction: Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spinal muscular atrophy-2 (SMA-LED2). The severity of SMA-LED2 varies widely, ranging from cases in which patients are able to walk to cases in which severe joint contractures lead to respiratory failure. In this study, we report the long-term course of a case of SMA-LED2 in comparison with previous reports.

Short-term administration of oral relugolix before single-port laparoscopic-assisted vaginal hysterectomy for symptomatic uterine myomas: A retrospective comparative study with leuprorelin injection.

Aim: To investigate the efficacy of short-term administration of relugolix, a novel orally active gonadotropin-releasing hormone (GnRH) antagonist, before single-port laparoscopic-assisted vaginal hysterectomy (LAVH) for symptomatic uterine myomas, retrospectively compared with injection of leuprorelin, a GnRH agonist.

Methods: A retrospective comparative study of each 35 women with symptomatic myomas in the relugolix and leuprorelin groups.

Results: Before administration of relugolix and leuprorelin, the median uterine volume did not differ significantly between the two groups (p = 0.

Time to remission of proteinuria and incidence of relapse in patients with steroid-sensitive minimal change disease and focal segmental glomerulosclerosis: the Japan Nephrotic Syndrome Cohort Study.

Background: Minimal change disease (MCD) is characterized by a nephrotic syndrome usually steroid-sensitive and a high incidence of relapse of proteinuria. Previous cohort studies have reported conflicting results regarding the association between the time to remission and incidence of relapse.

Methods: This multicenter prospective cohort study included 102 adult patients with steroid-sensitive MCD or focal segmental glomerulosclerosis from a 5-year cohort study of primary nephrotic syndrome, the Japan Nephrotic Syndrome Cohort Study, who achieved remission of proteinuria within 2 months of immunosuppressive therapy (IST).

Intraosseous carcinoma of the anterior maxilla identified as the occult primary tumour of carcinoma of unknown primary.

Carcinoma of unknown primary (CUP) is defined as lymph node metastasis without a detectable origin until after the initial treatment has been performed. The most common occult primary site in the head and neck, as revealed by a review of the published literature, is the oropharynx. An occult primary site in the oral region is extremely rare.

Early identification of uterine scar defect by preconception magnetic resonance imaging to achieve successful pregnancy outcome after laparoscopic-assisted myomectomy: Two case reports.

Myomectomy improves the reproductive ability of women. However, the risk for uterine rupture and abnormal placentation remains a concern. In two cases with scar defects after laparoscopic-assisted myomectomy, one case developed amniocele, while other case showed abnormally invasive placenta.

Beating pulmonary vein sign during catheter ablation.

The beating of a pulmonary vein during cardiac catheterization is a rare phenomenon caused by the heart beating through the pericardial effusion when a cardiac tamponade occurs. This "beating pulmonary vein" sign is useful for early detection of a tamponade before circulatory collapse occurs.

Abdominal aortic aneurysm mimicking the cause of gastric obstruction.

A case of abdominal aortic aneurysm appeared to be compression of the antrum of the stomach and was suspected of causing a gastric obstruction. However, an upper gastrointestinal endoscopy to rule out an obstruction by a tumor revealed a gastric tumor, thus avoiding unnecessary intervention, such as open surgery.

-deficient mice develop somatosensory dysfunction and axonal loss in the peripheral nerves.

Glucose-responsive ATP-sensitive potassium channels (K) are expressed in a variety of tissues including nervous systems. The depolarization of the membrane potential induced by glucose may lead to hyperexcitability of neurons and induce excitotoxicity. However, the roles of K in the peripheral nervous system (PNS) are poorly understood.

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.

X-linked nephrogenic diabetes insipidus (NDI) is caused by variations in arginine vasopressin receptor 2 (). Some patients show partial resistance to arginine vasopressin (AVP). A 19-month-old Japanese boy presented with polydipsia since infancy.

Hemosiderin-Laden Macrophages in Bronchoalveolar Lavage: Predictive Role for Acute Exacerbation of Idiopathic Interstitial Pneumonias.

Background: Hemosiderin-laden macrophages (HLMs) have been identified in the bronchoalveolar lavage fluid (BALF) of patients with idiopathic pulmonary fibrosis (IPF). This retrospective study examined the ability of HLMs in BALF to predict the acute exacerbation (AE) of chronic idiopathic interstitial pneumonias (IIPs).

Methods: Two hundred and twenty-one patients with IIP diagnosed by bronchoscopy were enrolled in the study (IPF,  = 87; IIPs other than IPF,  = 134).

Poor local control of ulcerative T1 glottic cancer treated with 2.25-Gy per fraction radiotherapy.

The Tokai Study Group for Therapeutic Radiology and Oncology (TOSTRO) started managing T1 glottic cancer using 2.25 Gy/fraction radiotherapy in 2011. The aim was to evaluate the local control (LC) rate and toxicity with 2.

Late detection of communication between juxtaposed atrial appendages.

A 40-year-old woman underwent an atrial septal defect closure 4 years before presentation. During the operation, juxtaposition of the atrial appendages was found simultaneously but no obvious communication was found between the appendages. She recently experienced desaturation on exercise, and the residual communication was found between the juxtaposed atrial appendages.

Gasless laparoendoscopic single-site surgery for management of unruptured tubal pregnancy in a woman with moderate COVID-19 pneumonia after administration of remdesivir and casirivimab-imdevimab: A case report.

Background: Diagnostic and therapeutic challenges may arise in the management of gynecologic emergencies, such as ectopic pregnancy, for women with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.

Case: A 33-year-old woman (gravida 3, para 2) with a history of SARS-CoV-2 infection 8 months prior experienced sudden onset of fever and cough. Four days later, she consulted her gynecologist because of a positive pregnancy test and was further referred because of suspected ectopic pregnancy at 11 weeks of gestation, as calculated from her last irregular menstrual period.

Long-Term Outcomes of Endoscopic Gallbladder Drainage for Cholecystitis in Poor Surgical Candidates: An Updated Comprehensive Review.

Laparoscopic cholecystectomy is the standard and fundamental treatment of choice for acute cholecystitis; however, there are cases in which patients may be poor surgical candidates due to advanced age, comorbidities, and/or general condition. The rate of recurrent cholecystitis is high in patients who are not surgically treated; therefore, the prevention of recurrence in this patient population is an important subject of investigation in the management of cholecystitis. Although it has recently been reported that long-term stent placement by endoscopic gallbladder stenting or endoscopic ultrasound-guided gallbladder drainage may reduce the recurrence rate, its efficacy and safety remain controversial.

Panoramic Endocardial Optical Mapping Demonstrates Serial Rotors Acceleration and Increasing Complexity of Activity During Onset of Cholinergic Atrial Fibrillation.

Background Activation during onset of atrial fibrillation is poorly understood. We aimed at developing a panoramic optical mapping system for the atria and test the hypothesis that sequential rotors underlie acceleration of atrial fibrillation during onset. Methods and Results Five sheep hearts were Langendorff perfused in the presence of 0.

E-PASS scoring system serves as a predictor of short- and long-term outcomes in gastric cancer surgery.

Purposes: This study aimed to evaluate the estimation of the physiological ability and surgical stress (E-PASS) scoring system for predicting the short- and long-term outcomes in gastric cancer (GC) surgery.

Methods: We analyzed a multi-institutional dataset to study patients who underwent gastrectomy with a curative intent between 2010 and 2014. This study evaluated the associations between the optimal E-PASS score cutoff value and the following outcomes: (1) the incidence of postoperative complications in stage I-III GC patients and (2) the prognosis in stage II-III GC patients.

Uterine artery chemoembolization followed by hysteroscopic resection for management of retained placenta accreta with marked vascularity after evacuation of first-trimester miscarriage in angular pregnancy: A case report.

Background: Angular pregnancy is a rare form of eccentric intrauterine gestation. To determine the management strategy, angular pregnancy should be differentiated from interstitial pregnancy and cornual pregnancy.

Case: A 37-year-old woman (gravida 5, para 4) with no previous disease history was referred because of a retained placenta with hemorrhage 20 days following the manual vacuum aspiration of an intrauterine pregnancy performed after the diagnosis of miscarriage at 8 weeks of gestation.

Phase II Prospective Study of Trastuzumab in Combination with S-1 and Oxaliplatin (SOX100) Therapy for HER2-Positive Advanced Gastric Cancer.

Purpose: The standard first-line treatment for human epidermal growth factor receptor type 2 (HER2)-positive advanced gastric cancer (AGC) is trastuzumab in combination with cisplatin and fluoropyrimidines. We evaluated the efficacy and safety of S-1 and oxaliplatin (100 mg/m) (SOX100) combined with trastuzumab, a monoclonal antibody against HER2 for HER2-positive AGC.

Methods: In this single-arm, multicenter phase II study, patients with HER2-positive AGC received S-1 (80-120 mg per day) orally on days 1-14, oxaliplatin (100 mg/m) intravenously on day 1, and trastuzumab (8 mg/kg on day 1 of the first cycle, followed by 6 mg/kg every 3 weeks) intravenously.

Trends in diagnostic and therapeutic strategies for extra-abdominal desmoid-type fibromatosis: Japanese musculoskeletal oncology group questionnaire survey.

Objective: The mainstay of treatment modality for extra-abdominal desmoid-type fibromatosis (DF) has shifted from surgery, which often impairs ADL/QOL, to conservative treatment including active surveillance. In the present study, we conducted a longitudinal survey on the diagnosis and treatment of DF at facilities belonging to the Japanese Musculoskeletal Oncology Group, which is a research group of facilities specializing in the treatment of bone and soft tissue tumors in Japan to clarify the transition of medical care for extra-abdominal DF.

Methods: The same questionnaire was administered in 2015 and 2018, and responses were obtained from 46 (69%) of 67 facilities and 42 (53%) of 80 facilities in 2015 and 2018, respectively.

Long-term outcomes of nasogastric tube with Gastrografin for adhesive small bowel obstruction.

Background: We had previously reported that the administration of Gastrografin through a nasogastric tube (NGT-G) followed by long tube (LT) strategy could be a novel standard treatment for adhesive small bowel obstruction (ASBO); however, the long-term outcomes after initial improvement remain unknown. This study aimed to analyze the long-term outcomes of first-line NGT-G.

Methods: Enrolled patients with ASBO were randomly assigned to receive LT or NGT-G between July 2016 and November 2018.

Prognostic impact of a microscopic positive margin in patients undergoing gastrectomy for gastric cancer: a propensity score‑matched analysis of a multi‑institutional dataset.

Purpose: We analyzed the effect of a microscopic positive margin on survival outcomes after gastrectomy for gastric cancer METHODS: We analyzed a multi-institutional dataset to study patients who underwent gastrectomy with curative intent between 2010 and 2014. We used propensity score matching to strictly balance the patients' oncological features, backgrounds, and postoperative treatment to compare the survival outcomes of those with microscopic positive margins and those with negative margins.

Results: Among 3029 patients, 32 (1.

Efficacy of Splenectomy for Proximal Gastric Cancer with Greater Curvature Invasion or Type 4 Tumor: a Propensity Score Analysis of a Multi-Institutional Dataset.

Background: Splenectomy for proximal gastric cancer was found to have no survival benefit in a randomized trial clarifying the role of splenectomy (JCOG0110 study). However, since tumor with invasion to the greater curvature and Type 4 tumor were excluded in JCOG0110, the benefit of splenectomy for these tumors is not known.

Methods: A multicenter dataset of patients with gastric cancer who underwent gastrectomy between 2010 and 2014 was created.