Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.

An open-label, randomized, controlled trial on the benefit of β-hydroxy-β-methyl butyrate, l-arginine, l-glutamine combination beverages and locomotion training as supportive care for the treatment of unresectable hepatocellular carcinoma using lenvatinib: A pilot study (HELLO study).

Introduction: Hand-foot-skin reaction (HFSR) is the most common side effect of multi-tyrosine kinase inhibitor therapy for unresectable hepatocellular carcinoma (uHCC). Sarcopenia has been reported to be a poor prognostic factor for HCC. Here, we performed a randomized controlled trial (RCT) of the efficacy of a β-hydroxy-β-methyl butyrate/l-arginine/l-glutamine (HMB/Arg/Gln) beverage and locomotion training as supportive care in the treatment of uHCC with lenvatinib.

A Phase 1/2 study of teclistamab, a humanized BCMA × CD3 bispecific Ab in Japanese patients with relapsed/refractory MM.

We characterized the safety and efficacy of the bispecific antibody teclistamab in Japanese patients with relapsed/refractory multiple myeloma (RRMM). Patients were pretreated with a proteasome inhibitor (PI), immunomodulatory drug (IMiD), and anti-CD38 monoclonal antibody (mAb). The primary endpoint was frequency and type of treatment-emergent adverse events (TEAEs) in phase 1, and overall response rate (ORR; ≥ partial response [PR]) in phase 2.

Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy.

Background: Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear.

Yearly motor function changes in patients with Duchenne muscular dystrophy, including a COVID-19 behavioral restriction period.

[Purpose] This study aimed to assess the motor function status of ambulatory patients with Duchenne muscular dystrophy in 2020, which included a 3-month period of behavioral restriction due to the coronavirus disease of 2019 (COVID-19) pandemic, in comparison to the previous 2 years. [Participants and Methods] A retrospective analysis was conducted on 12 patients (children with mean age: 9.58 ± 3.

Stage-dependent immunity orchestrates AQP4 antibody-guided NMOSD pathology: a role for netting neutrophils with resident memory T cells in situ.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease of the CNS characterized by the production of disease-specific autoantibodies against aquaporin-4 (AQP4) water channels. Animal model studies suggest that anti-AQP4 antibodies cause a loss of AQP4-expressing astrocytes, primarily via complement-dependent cytotoxicity. Nonetheless, several aspects of the disease remain unclear, including: how anti-AQP4 antibodies cross the blood-brain barrier from the periphery to the CNS; how NMOSD expands into longitudinally extensive transverse myelitis or optic neuritis; how multiphasic courses occur; and how to prevent attacks without depleting circulating anti-AQP4 antibodies, especially when employing B-cell-depleting therapies.

The Association Between Physical Activity/Heart Rate Variability Data Obtained Using a Wearable Device and Timed Motor Functional Tests in Patients with Duchenne Muscular Dystrophy: A Pilot Study.

Background: Duchenne muscular dystrophy (DMD) is a devastating X-linked muscle disease. Clinical evaluation of DMD uses patient-intensive motor function tests, and the recent development of wearable devices allows the collection of a variety of biometric information, including physical activity.

Objective: In this study, we examined differences in physical activity and heart rate variability (HRV) between patients with DMD and healthy subjects using a wearable device, and investigated any association between these parameters and motor function in patients with DMD.

A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy.

To clarify the influence of coronavirus disease-19 (COVID-19) on the care of muscular dystrophy patients, we performed a questionnaire survey that was posted on the internet on May 11, 2020. By the end of July 2020, 542 responses had been collected. Approximately 30% of patients postponed regular consultations, and one-quarter of patients who received consultation more than once a month used telephone consultations.

aMAP score prediction of hepatocellular carcinoma occurrence and incidence-free rate after a sustained virologic response in chronic hepatitis C.

Aims: Hepatocellular carcinoma (HCC) can still occur in hepatitis C virus (HCV) patients who have achieved a sustained virologic response (SVR), which remains an important clinical issue in the direct-acting antivirals era. The current study investigated the clinical utility of the aMAP score (consisting of age, male, albumin-bilirubin, and platelets) for predicting HCC occurrence in HCV patients achieving an SVR by direct-acting antivirals.

Methods: A total of 1113 HCV patients without HCC history, all of whom achieved an SVR, were enrolled for clinical comparisons.

Successful Empiric Therapy for Postsplenectomy Sepsis with Campylobacter fetus in an Abattoir Worker with Follicular Lymphoma.

Asplenia may yield an increased risk of fulminant sepsis with various pathogens. Human infection with Campylobacter fetus is rare, but it often presents with non-gastrointestinal tract infection among immunocompromised individuals. A 55-year-old abattoir worker presented with a fever.

Pulmonary Injury from Waterproofing Spray During a Hike.

A 48-year-old man developed general fatigue, dyspnea, and fever at an altitude of 1562 m from the morning of the first day of a 3-day hike. Despite pharyngeal discomfort and mild general fatigue, he felt that the symptoms were not sufficient to abandon his plan. He usually required 1.

An Autopsy Case of Respiratory Failure Induced by Repetitive Cervical Spinal Cord Damage due to Abnormal Movement of the Neck in Athetoid Cerebral Palsy.

We herein report the clinical and autopsy findings of a 48-year-old right-handed man with athetoid cerebral palsy who suffered from cervical myelopathy due to abnormal neck movement, and who died of respiratory failure. Pathologically, the external appearance of the ventral surface of the cervical spinal cord revealed a linear indentation running obliquely at the level between the C4 and C5 segments. In the most severely compressed lesion, the gray matter was predominantly affected and severely atrophic.

Persistent Infection of Drug-resistant Influenza A Virus during Chemotherapy for Malignant Lymphoma.

We herein report the case of an 80-year-old man with malignant lymphoma who became persistently infected with influenza A virus. Although he was repeatedly treated with NA inhibitors, such as oseltamivir or peramivir, nasal cavity swab tests for influenza A antigen continued to be positive for more than 2 months. Virological analyses revealed that he was infected with the NA inhibitor-resistant A (H3N2) virus possessing an R292K substitution in the NA protein.

Fatal Encephalopathy Associated with Influenza in a Health Care Professional.

A 41-year-old nurse was referred to our hospital with a fever and disturbed consciousness. She tested positive for influenza antigen. CT and MRI findings revealed low density and intensity areas in the right occipital and lateral lobes with remarkable brain edema, which led to a diagnosis of influenza encephalopathy.

Development of primary central nervous system lymphoma associated with human immunodeficiency virus and JC virus infection.

We report here a case of a 37-year-old man with human immunodeficiency virus (HIV) infection followed by JC virus (JCV) infection and primary central nervous system lymphoma (PCNSL). The patient had been infected with HIV type 1 due to blood products for hemophilia A during infancy. He had progression of nervous symptoms and was diagnosed with progressive multifocal leukoencephalopathy (PML) clinically at the age of 36, when his CD4-positive lymphocyte counts ranged between 350 and 450/μl.

KIR3DL1-HLA-Bw4 combination and IL28B polymorphism predict response to Peg-IFN and ribavirin with and without telaprevir in chronic hepatitis C.

Natural killer cells play a key role in the immune control of viral infections. Killer immunoglobulin-like receptors (KIRs) regulate natural killer cell activation and inhibition through the recognition of their cognate HLA class I ligands. We assessed the predictive factors of a sustained virological response (SVR) in 200 Japanese patients with chronic genotype 1b hepatitis C who were treated with telaprevir (TVR), pegylated-interferon-α2b (PEG-IFN), and ribavirin (RBV) triple therapy (92 patients) or PEG-IFN/RBV therapy alone (108 patients).

Tumor lysis syndrome in a chronic lymphocytic leukemia patient with pleural effusion after oral fludarabine and cyclophosphamide therapy.

Tumor lysis syndrome (TLS) is a rare complication of the treatment for chronic lymphocytic leukemia (CLL). Since the advent of new therapeutic agents with higher response rates, however, TLS has been observed with increasing frequency. An 84-year-old woman with a nine-year history of untreated CLL presented with exacerbating dyspnea due to pleural effusion.

[Pain management using patient controlled epidural analgesia for transient osteoporosis of the hip in pregnancy].

We report the case of a 37-year-old woman who developed severe pain in bilateral legs and hip in the eighth month of pregnancy. She was diagnosed as transient osteoporosis of the hip in pregnancy by the MRI findings. NSAID is contraindicated for late pregnancy, and we selected epidural analgesia for the pain management of this case.

[What must we do for patients with ALS in the process of their decision making on TIPPV?].

Patients with amyotrophic lateral sclerosis (ALS) must stand at crossroads when their disease advances causing respiratory failure; they have to decide whether or not to use tracheal intermittent positive pressure ventilation (TIPPV). Because the decision may devide their lives into alive or dead, appropriate information should be provided to the patients and their family before they make the decision. The information they would require include not only on medical care but also on social or economical issues if they should be on ventilator dependent life.