Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Context: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS).

Effectiveness of primary series, first, and second booster vaccination of monovalent mRNA COVID-19 vaccines against symptomatic SARS-CoV-2 infections and severe diseases during the SARS-CoV-2 omicron BA.5 epidemic in Japan: vaccine effectiveness real-time surveillance for SARS-CoV-2 (VERSUS).

Background: This study aimed to evaluate VE of primary, first, and second booster ancestral-strain monovalent mRNA COVID-19 vaccination against symptomatic infections and severe diseases in Japan.

Methods: We conducted a test-negative case-control study. We included medically attended episodes and hospitalizations involving individuals aged 16 with signs and symptoms from July to November 2022, when Omicron BA.

Bypass failure of internal mammary artery caused by subclavian artery stenosis: its clinical characteristics and cardiovascular outcomes in patients receiving coronary artery bypass graft surgery.

Background: While internal mammary artery (IMA) has become a major conduit of coronary artery bypass graft (CABG) surgery, subclavian artery stenosis (SAS) could cause subsequent coronary events due to ischemia of myocardial territory supplied by IMA. Clinical characteristics and cardiovascular outcomes of SAS-related IMA failure (SAS-IMAF) remain to be fully determined yet. Therefore, the current study was designed to characterize SAS-IMAF in patients receiving CABG with IMA.

Validation of claims-based algorithms for rheumatoid arthritis in Japan: Results from the VALIDATE-J study.

Aim: Validity of Algorithms in Large Databases: Infectious Diseases, Rheumatoid Arthritis, and Tumor Evaluation in Japan (VALIDATE-J) study examined algorithms for identifying rheumatoid arthritis (RA) in Japanese claims data.

Methods: VALIDATE-J was a multicenter, cross-sectional retrospective study. Disease-identifying algorithms were used to detect RA diagnosed between January 2012 and December 2016 using claims data from two Japanese hospitals.

A Case of Paraneoplastic Neurological Syndrome Leading to the Diagnosis of Large Cell Neuroendocrine Carcinoma From Opsoclonus-Myoclonus Syndrome.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by myoclonus, ataxia, and tremors. It can be classified as neoplastic or idiopathic, with small cell lung cancer being commonly associated. Herein, we present a rare case of refractory paraneoplastic neurological syndrome (PNS) caused by large cell neuroendocrine carcinoma (LCNEC), a rare form of non-small cell lung cancer (NSCLC).

ZLN005 improves the protective effect of mitochondrial function on alveolar epithelial cell aging by upregulating PGC-1α.

Background: Idiopathic pulmonary fibrosis (IPF) is a chronic and fatal pulmonary interstitial disease that usually occurs in the elderly. The senescence of alveolar epithelial cells (AECs) is an important mechanism of IPF. The AECs of patients with IPF have lower expression of peroxisome proliferator-activated receptor-γ coactivator-1 alpha (PGC-1α), which has been shown to play an important role in maintaining mitochondrial morphology and energy metabolism.

Prognosis of pediatric ulcerative colitis after infliximab failure: A multicenter registry-based cohort study.

Background And Aim: Even with increasing numbers of biologic agents available for management of ulcerative colitis (UC), infliximab (IFX) retains an important place in treatment of pediatric patients with this disease. As few reports have addressed outcomes in pediatric UC patients who had to discontinue IFX, we examined clinical course and prognosis after IFX failure in pediatric UC.

Methods: A prospective cohort study of pertinent cases enrolled in the Japanese Pediatric Inflammatory Bowel Disease Registry between 2012 and 2020 was conducted to determine outcomes for pediatric UC patients who received IFX but required its discontinuation during follow-up (IFX failure).

Survey on chest CT findings in COVID-19 patients in Okinawa, Japan: differences between the delta and omicron variants.

To investigate the frequency of pneumonia and chest computed tomography (CT) findings in patients with coronavirus disease 2019 (COVID-19) during the fifth Delta variant-predominant and sixth Omicron variant-predominant waves of the COVID-19 pandemic in Okinawa, Japan. A survey on chest CT examinations for patients with COVID-19 was conducted byhospitals with board-certified radiologists who provided treatment for COVID-19 pneumonia in Okinawa Prefecture. Data from 11 facilities were investigated.

Rivero-Carvallo Sign in Bioprosthetic Tricuspid Valve Stenosis.

In a case with bioprosthetic tricuspid stenosis, simultaneous phonocardiogram and Doppler recordings revealed that the louder diastolic rumble in inspiration (Rivero-Carvallo sign) is related to increased tricuspid gradient caused by less prominent decrease of right atrial pressure compared with that of the right ventricle in inspiration caused by tricuspid stenosis. ().

Validity of claims-based diagnoses for infectious diseases common among immunocompromised patients in Japan.

Background: To validate Japanese claims-based disease-identifying algorithms for herpes zoster (HZ), Mycobacterium tuberculosis (MTB), nontuberculous mycobacteria infections (NTM), and Pneumocystis jirovecii pneumonia (PJP).

Methods: VALIDATE-J, a multicenter, cross-sectional, retrospective study, reviewed the administrative claims data and medical records from two Japanese hospitals. Claims-based algorithms were developed by experts to identify HZ, MTB, NTM, and PJP cases among patients treated 2012-2016.

Microbleed clustering in thalamus sign in CADASIL patients with R75P mutation.

Background And Objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microvascular disease characterized by the development of vascular dementia and lacunar infarctions. This study aimed to identify the genetic and clinical features of CADASIL in Japan.

Methods: We conducted genetic analysis on a case series of patients clinically diagnosed with CADASIL.

A Case of Transient Unilateral Right Leg Edema Caused by a Markedly Distended Bladder.

External compression of a vein is a relatively rare but important cause of unilateral leg edema. Here, we present a case of unilateral right leg edema caused by external compression of the right iliac vein due to a markedly distended urinary bladder, secondary to a neurogenic bladder. The patient initially had bilateral leg edema associated with chronic heart failure.

Cohort study to evaluate prognostic factors in idiopathic pulmonary fibrosis patients introduced to oxygen therapy.

While high-level evidence is lacking, numerous retrospective studies have depicted the value of supplemental oxygen in idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases, and its use should be encouraged where necessary. The clinical course and survival of patients with IPF who have been introduced to oxygen therapy is still not fully understood. The objective of this study was to clarify overall survival, factors associated with prognosis, and causes of death in IPF patients after the start of oxygen therapy.