Systematic Evaluation of Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1.

- Mutation/variant-site specific risk stratification in long-QT syndrome type 1 (LQT1) has been well investigated, but it is still challenging to adapt current enormous genomic information to clinical aspects caused by each mutation/variant. We assessed a novel variant-specific risk stratification in LQT1 patients. - We classified a pathogenicity of 141 variants among 927 LQT1 patients (536 probands) based on the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines and evaluated whether the ACMG/AMP-based classification was associated with arrhythmic risk in LQT1 patients.

The Characteristics and Clinical Outcomes of Direct Oral Anticoagulantsin Patients with Atrial Fibrillation and Chronic Kidney Disease: From the Database of A Single-Center Registry.

Background: This study aimed to evaluate the characteristics and clinical outcomes (major bleeding [MB] and thromboembolic events [TEEs]) of atrial fibrillation (AF) patients with chronic kidney disease (CKD)who receiveddirect oral anticoagulant (DOAC) therapy.

Methods: Data prospectivelycollected from a single-center registry containing 2,272 patients with DOAC prescription for AF (apixaban [n=1,014], edoxaban [n=267], rivaroxaban [n=498], and dabigatran[n=493]) were retrospectively analyzed. Patients were monitored for two years and classified into the CKD (n=1460) andnon-CKD groups(n=812).

A Patient with 22q11.2 Deletion Syndrome Presenting with Systemic Skin Rash and Dermatopathic Lymphadenitis of Unusual Histology.

BACKGROUND Chromosome 22q11.2 deletion syndrome (22q11.2 DS) currently includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome.

Blood Pressure Increases Before Pulse Rate During the Nocturnal Period in Hypertensive Patients.

Ambulatory blood pressure monitoring (ABPM) is used for the evaluation of out-of-office blood pressure (BP), however, knowledge concerning the detailed behavior of nocturnal blood pressure (BP) and pulse rate (PR) is limited.A total of 190 participants (64 ± 15 years, 46.3% males) underwent ABPM for diagnosis of hypertension or evaluation of hypertensive therapy.

Safety of Revascularization Deferral of Left Main Stenosis Based on Instantaneous Wave-Free Ratio Evaluation.

Objectives: The aim of this study was to assess the long-term clinical outcomes of patients with left main coronary artery (LM) stenosis in whom treatment strategy was based on the instantaneous wave-free ratio (iFR).

Background: The overall safety of iFR to guide revascularization decision making in patients with stable coronary artery disease has been established. However, no study has examined the safety of deferral of revascularization of LM disease on the basis of iFR.

Utility of Saline-Induced Resting Full-Cycle Ratio Compared with Resting Full-Cycle Ratio and Fractional Flow Reserve.

Background: The saline-induced distal coronary pressure/aortic pressure ratio predicted fractional flow reserve (FFR). The resting full-cycle ratio (RFR) represents the maximal relative pressure difference in a cardiac cycle. Therefore, the present study aimed to compare the results of saline-induced RFR (sRFR) with FFR.

Correction to: Multi-institutional re-evaluation of prognostic factors in chromophobe renal cell carcinoma: proposal of a novel two-tiered grading scheme.

The legends of Figs. 1 and 3 in the published original version of the above article are incorrect.

The Effect of Dapagliflozin Treatment on Epicardial Adipose Tissue Volume and P-Wave Indices: An Ad-hoc Analysis of The Previous Randomized Clinical Trial.

Aim: Epicardial adipose tissue (EAT) may be associated with arrhythmogenesis. P-wave indices such as P-wave dispersion and P-wave variation indicated a slowed conduction velocity within the atria. This study investigated the effect of dapagliflozin on EAT volume and P-wave indices.

The Determinants and Outcomes of Myocardial Injury After Transcatheter Aortic-Valve Implantation: SAPIEN 3 Study.

Background: The effect of myocardial injury (MI) post-transcatheter aortic valve implantation (TAVI) on clinical outcomes is controversial. This study aimed to evaluate the effect of MI severity on clinical outcome and left ventricle function 30 days post-TAVI and determine MI post-TAVI predictors.

Methods: Overall, 138 consecutive patients who underwent successful transfemoral TAVI using SAPIEN3 and diagnosed using echocardiography and computed tomography were analyzed.

A homogeneously enhancing mass evolving into multiple hemorrhagic and necrotic lesions in amoebic encephalitis with necrotizing vasculitis.

Background: Granulomatous amoebic encephalitis (GAE) is a rare and mostly fatal disease. Without specific symptoms, laboratory findings, or radiologic characteristics, establishing a correct diagnosis is challenging. In many cases of GAE, multiple ring-enhancing lesions with perifocal edema are observed on magnetic resonance imaging (MRI); a solitary and homogeneously enhancing mass masquerading as a malignant lymphoma that evolved into multiple hemorrhagic and necrotic lesions has rarely been reported in GAE.

Multi-institutional re-evaluation of prognostic factors in chromophobe renal cell carcinoma: proposal of a novel two-tiered grading scheme.

A histological grading system of chromophobe renal cell carcinoma (chRCC) is highly desirable to identify approximately 5-10% of tumors at risk for progression. Validation studies failed to demonstrate a correlation between the four-tiered WHO/ISUP grade and outcome. Previous proposals with three-tiered chromophobe grading systems could not be validated.

An Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study.

BACKGROUND Pulmonary capillary hemangiomatosis (PCH) and pulmonary veno-occlusive disease (PVOD) are rare diseases that share clinical, X-ray, and histological features. Most patients have poor prognosis due to severe respiratory impairment. Recently, EIF2AK4 mutations were found in some patients with PCH and PVOD, but the role of this mutation is still unknown.

Classic Chromophobe Renal Cell Carcinoma Incur a Larger Number of Chromosomal Losses Than Seen in the Eosinophilic Subtype.

Chromophobe renal cell carcinoma (chRCC) is a renal tumor subtype with a good prognosis, characterized by multiple chromosomal copy number variations (CNV). The World Health Organization (WHO) chRCC classification guidelines define a classic and an eosinophilic variant. Large cells with reticular cytoplasm and prominent cell membranes (pale cells) are characteristic for classic chRCC.

Congenital diaphragmatic eventration with absent left phrenic nerve in the fetal pig.

We encountered a fetal pig with eventration of the diaphragm and pulmonary hypoplasia accompanied by phrenic nerve agenesis. The fetal pig was female measuring 34 cm in crown-rump length and about 1500 g in body weight. The diaphragm was a complete continuous sheet, but comprised a translucent membrane with residual muscular tissue only at the dorsolateral area of the right leaf of the diaphragm.

The effect of the debulking by excimer laser coronary angioplasty on long-term outcome compared with drug-coating balloon: insights from optical frequency domain imaging analysis.

This study evaluated the 1-year efficacy of excimer laser coronary angioplasty (ELCA) before drug-coated balloon (DCB) dilatation for the treatment of in-stent restenosis (ISR). Forty consecutive patients with ISR were treated by DCB with or without the use of ELCA (ELCA plus DCB, N = 20; DCB alone, N = 20). Debulking efficiency (DE) value was defined as the neointima area on optical frequency domain imaging (OFDI) debulked by ELCA.

Accentuation of J waves by intracoronary administration of multiple agents in a patient with vasospastic angina: Implications for pathogenesis.

A 64-year-old man was resuscitated from out-of-hospital VF, and coronary spasm was provoked by ergonovine at catheterization. An ECG was analyzed before and after each intracoronary injection of drugs or contrast medium. The baseline ECG showed nondiagnostic J waves in leads II, III, and aVF, but administration of acetylcholine, contrast medium and nitroglycerin into the right coronary artery induced a distinct augmentation of J-wave amplitudes with changes in the QRS morphology.

Eye diseases in women.

Although eye diseases are considered to be relatively less affected by patient sex, it is noteworthy that the presence of hormone receptors have been confirmed in various ocular tissues, which were considered to have few sex-based differences. Female hormone levels are known to change because of menstruation, pregnancy, and menopause. When female hormone levels markedly fluctuate in such situations, the disease state may change.

The Impact of Cancer on Major Bleeding and Stroke/Systemic Emboli in Patients Using Direct Oral Anticoagulants:From the Database of a Single-Center Registry.

Background: Few data are available on direct oral anticoagulant (DOAC) use in patients with cancer and atrial fibrillation (AF).

Methods: We retrospectively analyzed prospectively collected data from a single-center registryon 2,272 patients who tookDOACs for AF (apixaban:1,014; edoxaban:267; rivaroxaban:498; dabigatran:493). Patients were monitored for 2 years andclassified into non-cancer (n=2009) and cancer group (n=263) (cancer onset during DOAC treatment, active canceratDOAC administration, and cancer history).

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations.

Intermediate-length CAG repeats in ATXN2 have been widely shown to be a risk factor for sporadic amyotrophic lateral sclerosis (SALS). To evaluate the association of ATXN2 intermediate-length CAG repeat alleles with an increased risk of SALS, we investigated distributions of CAG repeat alleles in 394 patients with SALS and 490 control individuals in the Japanese population. In the intermediate-length repeat units of 29 or more, we identified one SALS patient with 31 repeat units and two control individuals with 30 repeat units.

[A Case of Subdural Empyema with Cerebral Arteritis and Brain Ischemia in the Middle Cerebral Artery Distribution, Secondary to Odontogenic Maxillary Sinusitis].

We present a rare case of subdural empyema with cerebral arteritis and brain ischemia in the middle cerebral artery distribution secondary to odontogenic maxillary sinusitis. A 32-year-old man was admitted to our hospital because of high fever and generalized convulsions. Computed tomography(CT)and magnetic resonance imaging(MRI)showed subdural empyema at the left convexity, with a small amount of air.

A Case of Undifferentiated Sarcoma in the Superior Vena Cava and Bilateral Cervical Veins.

BACKGROUND Intimal sarcoma (IS) is a malignant mesenchymal tumor with predominantly intraluminal growth in large vessels and the heart. Due to the rarity of cases it often poses diagnostic problems in clinical and pathological settings. Although the classification of IS is still controversial, undifferentiated type of IS has recently been found to show immunohistochemical positivity with MDM2, CDK4, or PDGFRA and amplification of MDM2/CDK4 and PDGFRA.

Accuracy of acetabular cup placement using CT-based navigation in total hip arthroplasty: Comparison between obese and non-obese patients.

Background: In obese patients, malpositioning of the acetabular cup increases the risk of dislocation in total hip arthroplasty (THA). The aim of this study was to determine whether obesity affects the accuracy of acetabular cup positioning using a computed tomography (CT)-based navigation system.

Methods: We retrospectively evaluated 226 consecutive patients who underwent cementless primary THAs assisted by the CT-based hip navigation system.

Clinical Predictors of Recurrent Ventricular Arrhythmias in Secondary Prevention Implantable Cardioverter Defibrillator Recipients With Coronary Artery Disease - Lower Left Ventricular Ejection Fraction and Incomplete Revascularization.

Background: The implantable cardioverter defibrillator (ICD) is a standard prevention therapy for patients at high risk for sudden cardiac death (SCD) due to life-threatening ventricular arrhythmia (VA), that is, ventricular fibrillation and ventricular tachycardia. However, clinical predictors of recurrent VA in secondary prevention ICD recipients with coronary artery disease (CAD) remain unknown.

Methods and results: We followed up 96 consecutive patients with CAD undergoing ICD implantation for secondary prevention of SCD.