Comparisons of oscillatory potentials and 30 Hz flicker electroretinograms for discriminating eyes with diabetic retinopathy from normal eyes.

Purpose: To compare the amplitudes and implicit times of the oscillatory (OPs) of the full-field electroretinograms (ERGs) to those of the 30 Hz flicker ERGs in differentiating eyes with diabetic retinopathy (DR) from normal eyes.

Study Design: Single-center observational study.

Methods: Full-field ERGs were recorded in 55 patients with Type 2 diabetes mellitus (DM) and 20 normal control subjects.

Early Changes in Ocular Biomarkers in Patients with Vogt-Koyanagi-Harada Disease after Pulse Steroid Therapy.

Introduction: This study aimed to identify when ocular biomarker changes occur within 1 month and which ocular biomarkers correlate with best-corrected visual acuity (BCVA) at months 1 and 6.

Methods: We evaluated 33 patients with Vogt-Koyanagi-Harada disease who received pulse steroid therapy. The central anterior-chamber depth (ACD) and peripheral ACD were evaluated.

Laparoscopic approach for surgical treatment of pleuroperitoneal communication interfering with peritoneal dialysis: a case report.

Background: Pleuroperitoneal communication is a rare disorder that interferes with peritoneal dialysis. Although favorable results of thoracoscopic fistula closure have been reported, there are some cases in which the fistulas cannot be identified by thoracoscopy and the patients are forced to switch to hemodialysis.

Case Presentation: We present two cases of pleuroperitoneal communication in which diaphragmatic fistulas could not be identified thoracoscopically, but could be identified laparoscopically.

Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling.

Hereditary leiomyomatosis and renal cell carcinoma (HL (RCC)) entails cutaneous and uterine leiomyomatosis with aggressive type 2 papillary RCC-like histology. HLRCC is caused by pathogenic variants in the FH gene, which encodes fumarate hydratase (FH). Here, we describe an episode of young-onset RCC caused by a genomic FH deletion that was diagnosed via clinical sequencing.

Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution.

Background: Risk-reducing salpingo-oophorectomy is performed for the primary prevention of ovarian cancer in patients with hereditary breast-ovarian cancer syndrome. We performed risk-reducing salpingo-oophorectomy for the first time in Japan in 2008, and we experienced 20 cases of risk-reducing salpingo-oophorectomy through 2019. In the past, the use of risk-reducing salpingo-oophorectomy in Japan was restricted because it was not covered by a Japanese National Health Insurance.

Exposure to low temperatures suppresses the production of B-cell activating factor via TLR3 in BEAS-2B cells.

Acute viral respiratory tract infections (RTIs) are commonly associated with cold weather; however, the mechanism behind this is still unclear. Secretory IgA (sIgA) mainly contributes to the immune response against pathogenic microorganisms in the respiratory tract. Certain pathogen-associated molecular patterns (PAMPs) induce the expression of B-cell activating factor (BAFF) in epithelial cells, macrophages, and dendritic cells.

Improved Parkinsons disease motor score in a single-arm open-label trial of febuxostat and inosine.

Background: Cellular energetics play an important role in Parkinsons disease etiology, but no treatments directly address this deficiency. Our past research showed that treatment with febuxostat and inosine increased blood hypoxanthine and ATP in healthy adults, and a preliminary trial in 3 Parkinson's disease patients suggested some symptomatic improvements with no adverse effects.

Methods: To examine the efficacy on symptoms and safety in a larger group of Parkinsons disease patients, we conducted a single-arm, open-label trial at 5 Japanese neurology clinics and enrolled thirty patients (nmales = 11; nfemales = 19); 26 patients completed the study (nmales = 10; nfemales = 16).

Cowden syndrome complicated by schizophrenia: A first clinical report.

Patients with Cowden syndrome exhibit mucocutaneous lesions, hamartomatous polyposis of the gastrointestinal tract, and macrocephaly, often complicated by malignant tumors, such as breast, thyroid, and uterine cancers. Autism spectrum and epilepsy have been known as neuropsychiatric symptoms associated with Cowden syndrome; however, to the best of our knowledge, there is no report on cases complicated by schizophrenia. Here, we report a first case of Cowden syndrome complicated by schizophrenia.

The prevalence of low serum free testosterone and the short-term effect of anti-retroviral therapy in male Japanese treatment-naïve HIV patients.

Objectives: The prevalence of hypogonadism in HIV patients is still a matter of debate. Today, serum free testosterone (fTST) is thought to be more important than serum testosterone in the diagnosis of hypogonadism in patients with HIV. This study aimed to determine the prevalence of low fTST levels and the effects of anti-retroviral therapy (ART) on fTST levels in treatment-naïve male Japanese patients with HIV.

Evaluating the ability to detect pancreatic lesions using a special ultrasonography examination focusing on the pancreas.

Purpose: The ability to detect pancreatic cysts was compared between special ultrasonography (US) examination focusing on the pancreas (special pancreatic US) and routine upper abdominal ultrasonography to objectively assess the ability of the former to detect cysts.

Subjects And Methods: Of 3704 patients who underwent special pancreatic US at our hospital, 186 underwent routine upper abdominal US within six months, had pancreatic cysts, and underwent magnetic resonance imaging (MRI). In these patients, 447 cysts measuring ≥5mm were detected via MRI, which was used as the gold standard.

Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene.

We report a STK11 splicing variant comprising a 131-bp insertion that is derived from intron 1, which has previously been reported to possess potent pathogenicity. The same variant was detected in a Peutz-Jeghers syndrome patient harboring a genomic deletion in the vicinity of exon 1 of the STK11 gene, which indicated that this variant was derived from the wild-type allele. We also found the same variant in other normal subjects.

Integrally calcified solitary fibrous tumor in the retroperitoneum: a case report and review of the literature.

Solitary fibrous tumor (SFT) is a rare stromal neoplasm and usually occurs in the thoracic cavity. We here report a case of retroperitoneal SFT with prominent calcification. A 64-year-old man presented with an incidentally detected retroperitoneal mass in the right upper abdomen.

Spontaneous hemorrhage from splenic tissue 13 years after total splenectomy: report of a case.

A 33-year-old man suffered sudden abdominal distension without traumatic episodes. He had undergone total splenectomy for hereditary spherocytosis 13 years ago. He was in shock, and his hemoglobin level was 10.

Spontaneous rupture of non-parasitic or non-neoplastic multiple and giant liver cysts: report of a case.

Simple liver cysts occasionally cause pressure symptoms of the abdomen. We herein report an extremely rare case of spontaneous rupture of simple liver cysts. A 65-year-old woman suffered abdominal fullness and dyspnea.

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Aims: We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes were set as the target genes for coverage analysis.

Results: The protocol identified 30 nonsense, 19 frameshift, and 8 splice-site mutations, together with 10 nucleotide substitutions that were previously reported to be pathogenic.

Gastrointestinal Obstruction due to Solitary Lymph Node Recurrence of Alpha-Fetoprotein-Producing Gastric Carcinoma with Enteroblastic Differentiation.

We report an unusual case of alpha-fetoprotein (AFP)-producing gastric carcinoma with enteroblastic differentiation. A 75-year-old woman was admitted to our hospital with occasional upper abdominal discomfort. We performed gastroscopy and observed a type 2 tumor, primarily in the pyloric region.

Late stent malapposition with marked positive vascular remodeling observed only at the site of drug-eluting stents after multivessel coronary stenting.

A 74-year-old woman presented with effort-induced chest pain. Diagnostic coronary angiography revealed three-vessel disease. A successful angioplasty was performed with two sirolimus-eluting stents placed in the left anterior descending artery (LAD) and left circumflex artery (LCX).

Delayed enhancement cardiovascular magnetic resonance as a novel technique to predict cardiac events in dilated cardiomyopathy patients.

Purpose: Delayed enhancement cardiovascular magnetic resonance (DE-CMR) can detect cardiac scarring and has the potential to visualize the progression of myocardial remodeling. We determined whether DE-CMR can predict cardiac events in dilated cardiomyopathy patients.

Materials And Methods: Transthoracic echocardiography, coronary arteriography, and DE-CMR studies were performed in 60 consecutive dilated cardiomyopathy (DCM) patients.

Preoperative left atrial emptying fraction is a powerful predictor of successful maze procedure.

Background: The maze procedure for the treatment of atrial fibrillation (AF) is a widely used adjunctive therapy. It is necessary to define the precise indications for the procedure based on preoperative factors, but definitive parameters in terms of atrial function have not been well determined.

Methods And Results: In the present study, 55 consecutive patients undergoing the maze procedure for persistent AF in combination with operations for organic heart diseases were evaluated.

[Pedunculated carcinoid tumor of the gallbladder--analysis of the relationship between location and morphology in carcinoid tumor of the gallbladder].

Laparoscopic cholecystectomy was performed in a 54-year-old man because of gallbladder neck cancer suspected on endoscopic ultrasonography and computed tomography. The pathological diagnosis was carcinoid tumor of the gallbladder. Our case had the pedunculated morphology which was distinguishing characteristic.

Long-term outcome of first-generation metallic coronary stent implantation in patients with coronary artery disease: observational study over a decade.

Background: In the era of drug-eluting stents, percutaneous coronary intervention (PCI) has been considered an established therapeutic modality for patients with coronary artery disease (CAD). However, little is known about the long-term prognosis.

Methods And Results: Using data obtained from a single-center registry for cases of first-generation bare metallic stent (BMS) implantation, a 10-year follow-up study in patients with CAD was performed.

Intraductal oncocytic papillary neoplasm having clinical characteristics of mucinous cystic neoplasm and a benign histology.

Context: An intraductal oncocytic papillary neoplasm is a rare pancreatic tumor which was first described by Adsay et al. in 1996. It has been defined as a new subgroup of IPMN.

The echocardiographic determinants of functional mitral regurgitation differ in ischemic and non-ischemic cardiomyopathy.

Background: Functional mitral regurgitation (MR) is one of the common and severe complications in patients with dilated cardiomyopathy. The detailed mechanisms that cause functional MR remain to be elucidated. Using two-dimensional transthoracic echocardiography, we investigated the differences in major determinants of MR severity between ischemic cardiomyopathy (ICM) and non-ICM patients.