Utilizing artificial intelligence for the detection of hemarthrosis in hemophilia using point-of-care ultrasonography.

Background: Recurrent hemarthrosis and resultant hemophilic arthropathy are significant causes of morbidity in persons with hemophilia, despite the marked evolution of hemophilia care. Prevention, timely diagnosis, and treatment of bleeding episodes are key. However, a physical examination or a patient's assessment of musculoskeletal pain may not accurately identify a joint bleed.

Clinical characteristics and results after conservative treatment or interfascicular neurolysis of 100 limbs with spontaneous anterior interosseous nerve palsy: A prospective Japanese multicenter study.

Background: Spontaneous anterior interosseous nerve (AIN) palsy is characterized by the sudden onset of upper limb pain followed by weakness of muscles mainly innervated by the AIN. Although this palsy is conventionally treated conservatively, interfascicular neurolysis to release hourglass-like fascicular constrictions has been recommended. The present study aimed to establish the clinical characteristics and treatment strategy for this condition.

Laparoscopic Right Hemicolectomy With Gastrocolic Trunk Resection for Advanced Transverse Colon Cancer.

Locally advanced right-sided colon cancer sometimes requires advanced procedures in addition to normal complete mesocolic excision. We describe laparoscopic right hemicolectomy with gastrocolic trunk (GCT) resection. A 48-year-old woman was diagnosed with right transverse colon cancer and severe lymph node metastasis.

Integrating musculoskeletal ultrasound as a shared decision-making tool in hemophilia care: observations from a 3-year study.

Background: Hemophilia significantly impacts joint health, necessitating innovative strategies for early detection and management of joint damage.

Objectives: This study assessed the impact of incorporating musculoskeletal ultrasound (MSKUS) into shared decision-making processes on prophylaxis regimens for patients with hemophilia over a 3-year period.

Methods: The "Joint Damage Monitoring by Ultrasonography in Patients with Hemophilia in Japan" study was a long-term prospective observational study conducted at Ogikubo Hospital, Tokyo, Japan.

Artificial intelligence-assisted ultrasound imaging in hemophilia: research, development, and evaluation of hemarthrosis and synovitis detection.

Background: Joint bleeding can lead to synovitis and arthropathy in people with hemophilia, reducing quality of life. Although early diagnosis is associated with improved therapeutic outcomes, diagnostic ultrasonography requires specialist experience. Artificial intelligence (AI) algorithms may support ultrasonography diagnoses.

A case of chronic kidney disease with refractory periodic vomiting and hypertension in a pediatric patient.

Patients with chronic kidney disease (CKD) sometimes experience gastrointestinal symptoms, such as nausea and vomiting. In addition, hypertension and CKD are closely linked, and sustained hypertension in children is associated with the progression of CKD, leading to early cardiomyopathy and premature atherosclerosis. These symptoms substantially affect the quality of daily life of CKD patients, and particularly in children with CKD, they may cause growth retardation.

Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia.

We report the case of a 42-year-old man with bronchiectasis who had a history of infertility treatment for obstructive azoospermia. Young's syndrome was suspected based on the triad of obstructive azoospermia, sinusitis, and bronchiectasis. He had normal electron microscopy findings, normal nasal nitric oxide levels (116 nL/min), and no situs inversus.

Treatment of thrombotic cardiovascular diseases in people with haemophilia: A Japanese consensus study.

Introduction: Cardiovascular diseases (CVD) that require long-term anticoagulant and antiplatelet therapy presents a problem in people with haemophilia (PWH) who receive factor replacement therapy to reduce bleeding risk. Currently, there are no Japanese guidelines for the management of PWH with CVD.

Aim: To develop expert guidance on managing CVD in PWH in Japan.

[Brain Metastasis Following Conversion Surgery for Sigmoid Colon Cancer-A Case Report].

A 64-year-old man was diagnosed with KRAS-mutant type sigmoid colon cancer with metastasis in the lung, liver, left adrenal gland, and para-aortic lymph node(T3N1M1b, Stage ⅣB[Union for International Cancer Control 8th edition]). Laparoscopic transverse colostomy was performed to treat colonic obstruction. Subsequently, a combination regimen of capecitabine plus oxaliplatin plus bevacizumab was administered.

[Axillary Lymph Node Recurrence after Curative Surgery for Transverse Colon Cancer-A Case Report].

We report the rare case of an 89-year-old female with axillary lymph node recurrence after curative surgery for transverse colon cancer who had undergone right hemicolectomy with D3 lymphadenectomy with an uneventful postoperative course. Pathological examination confirmed the tumor's status as tub2>sig, T4aN3M0, and pStage Ⅲc, and signet-ring cell carcinoma was remarkably found in the metastatic lymph node. Genetic testing revealed wild-type RAS, a BRAF mutation, and a high MSI.

Curative resection after percutaneous drainage followed by preoperative panitumumab monotherapy for locally advanced sigmoid colon cancer with intra-abdominal abscess: a case report.

Background: The gold standard treatment for locally advanced colon cancer is curative surgery followed by adjuvant chemotherapy, although this approach is associated with serious concerns, such as high recurrence rates and occasionally unnecessary oversurgery. Neoadjuvant chemotherapy may be a promising strategy for overcoming these issues. This study reports a case of a recurrence-free patient who underwent curative resection without significant organ dysfunction after preoperative chemotherapy for locally advanced sigmoid colon cancer.

Association of physical activity with bleeding events and safety in patients with haemophilia A starting emicizumab prophylaxis: an interim analysis of the TSUBASA study.

Introduction: Little information exists on the relationship between bleeding outcomes and physical activity in patients with haemophilia A (PwHA).

Aim: This interim analysis of the TSUBASA study (UMIN-CTR ID: UMIN000037448) evaluated the association of physical activity with bleeding and safety in PwHA starting emicizumab.

Methods: PwHA without factor VIII inhibitors were recruited.

Trisomy X conferring moderate hemophilia A by extremely skewed X-chromosome inactivation.

Background: Hemophilia carriers occasionally present with bleeding tendency due to skewed inactivation of normal carrying X chromosome.

Key Clinical Question: Can extreme skewing of X-chromosome inactivation (XCI) with trisomy X cause low factor (F) VIII activity and bleeding in a hemophilia carrier?.

Clinical Approach: A young female with low FVIII activity (2 IU/dL), who presented with history of frequent bleeding and variant, NP_000123.

Association of patient, treatment and disease characteristics with patient-reported outcomes: Results of the ECHO Registry.

Introduction: Patient-reported outcomes (PROs) in people living with haemophilia A (PLWHA) are often under-reported. Investigating PROs from a single study with a diverse population of PLWHA is valuable, irrespective of FVIII product or regimen.

Aim: To report available data from the Expanding Communications on Haemophilia A Outcomes (ECHO) registry investigating the associations of patient, treatment and disease characteristics with PROs and clinical outcomes in PLWHA.

Real-World Experience of People with Hemophilia A Receiving Turoctocog Alfa Pegol (N8-GP): Results from a Patient Experience Survey.

Purpose: Turoctocog alfa pegol (N8-GP) is an extended half-life recombinant factor VIII molecule used for the treatment of hemophilia A (HA). The purpose of this study was to investigate real-world experiences of patients with HA treated with N8-GP.

Patients And Methods: A 25-minute online survey was completed by adults (≥18 years) and caregivers of adolescents (12-16 years) with HA receiving N8-GP across six countries (Germany, Italy, Portugal, Spain, UK and US).

Haemophilia and cardiovascular disease in Japan: Low incidence rates from ADVANCE Japan baseline data.

Introduction: With the increasing life expectancy of people with haemophilia, the risk of cardiovascular disease (CVD) and thrombotic events has become a growing concern. Longitudinal studies on the incidence and risk factors of CVD in this population are limited, and optimal prevention and treatment strategies are yet to be established.

Aim: This study aimed to present the baseline data of a prospective longitudinal study focusing on a subset of Japanese patients with haemophilia, specifically investigated the incidence, risk factors and treatment modalities for CVD and thrombotic diseases in people aged 40 years in Japan over 10 years through the ADVANCE Japan study.

Extended half-life factor IX prophylaxis up to every 21 days in hemophilia B: a longitudinal analysis of the efficacy and safety in selected adult patients.

Background: Extended half-life factor IX (FIX) products have revolutionized prophylactic treatment for patients with hemophilia B as patients maintain protective FIX levels with minimal occurrence of spontaneous bleeding. rIX-FP is an extended half-life FIX product that allows prolonged dosing intervals.

Objectives: To assess individualized and prolonged prophylactic dosing interval up to 21 days in adult patients (≥18 years) with hemophilia B in the rIX-FP clinical trial program.

Assessment of joint bleeding and target joints in patients with severe or moderately severe hemophilia B (factor IX ≤2%) receiving prophylaxis with rIX-FP in the PROLONG-9FP clinical trial program.

Objective: To assess the impact of prophylaxis with rIX-FP, a fusion protein linking recombinant factor IX (FIX) with human albumin, on joint outcomes.

Methods: Joint outcomes were assessed in pediatric (<12 years) and adult/adolescent (≥12 years) patients receiving rIX-FP prophylaxis every 7, 10, or 14 days; patients (>18 years) well-controlled on a 14-day regimen could switch to a 21-day regimen. Target joints were defined as ≥3 spontaneous bleeds into a single joint within a 6-month period.