Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations of the dystrophin gene, which spans 2.4 Mb on the X chromosome. Creatine kinase (CK) activity in blood and titin fragment levels in urine have been identified as biomarkers in DMD to monitor disease progression and evaluate therapeutic intervention.

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.

Introduction: A 20 kDa fragment at the N-terminus of titin is highly excreted in the urine of patients with Duchenne muscular dystrophy (DMD), making urine titin a prominent biomarker for muscle breakdown. This N-terminal fragment is presumed to be a product of degradation by a protein-degrading enzyme, calpain 3; however, whether calpain 3 is required remains unclear. We aimed to determine whether urine titin elevation occurs in the absence of calpain 3.

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.

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.

Spin injection from a magnetically near-compensated state in GdFeCo and inverse spin Hall effect in electron-hole compensated metal YH.

Rare-earth-transition-metal (RE-TM) ferrimagnets are excellent materials for spin encode/decode operations via spin transport in nonmagnetic regions. This superior performance stems from two key factors. First, the antiferromagnetic coupling between RE4f and TM3d sublattices reduces both the spin-transfer-torque switching time and inter-device magnetic-coupling.

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Background: Spinal muscular atrophy (SMA) is a genetic disease characterized by loss of motor neurons in the spinal cord and lower brainstem. The term "SMA" usually refers to the most common form, 5q-SMA, which is caused by biallelic mutations in (located on chromosome 5q13). However, long before the discovery of , it was known that other forms of SMA existed.

Clinical Utility of Synthesized 18-Lead Electrocardiography.

Eighteen-lead electrocardiography (18-ECG) includes, in addition to those in standard 12-lead ECG (12-ECG), six additional chest leads: V7-V9 and V3RV5R. Leads V7-V9 require the patient to be in a lateral decubitus position for the electrodes to be attached to the back. Synthesized 18-ECG (syn18-ECG) is a method that only records 12-ECG and uses computational logic to record the posterior wall (V7-V9) and right-sided (V3R-V5R) leads.

BayesianSpikeFusion: accelerating spiking neural network inference via Bayesian fusion of early prediction.

Spiking neural networks (SNNs) have garnered significant attention due to their notable energy efficiency. However, conventional SNNs rely on spike firing frequency to encode information, necessitating a fixed sampling time and leaving room for further optimization. This study presents a novel approach to reduce sampling time and conserve energy by extracting early prediction results from the intermediate layer of the network and integrating them with the final layer's predictions in a Bayesian fashion.

Bipolar transverse thermopower and low thermal conductivity for an anomalous Nernst-type heat flux sensor in GdCo alloys.

A Heat Flux Sensor (HFS) facilitates the visualization of heat flow, unlike a temperature sensor, and is anticipated to be a key technology in managing waste heat. Recently, an HFS utilizing the Anomalous Nernst Effect (ANE) has been proposed garnering significant interest in enhancing the transverse thermopower. However, ideal materials for HFS not only require a large transverse thermopower but also meet several criteria including low thermal conductivity and a bipolar nature of the transverse thermopower, especially a negative transverse thermopower.

Differential metabolic secretion between muscular dystrophy mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development.

The dystrophin gene () is recognized for its significance in Duchenne muscular dystrophy (DMD), a lethal and progressive skeletal muscle disease. Some patients with DMD and model mice with muscular dystrophy (mdx) spontaneously develop various types of tumors, among which rhabdomyosarcoma (RMS) is the most prominent. By contrast, spindle cell sarcoma (SCS) has rarely been reported in patients or mdx mice.

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.

Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese population. We present a 29-year-old Japanese woman with CVID.

Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.

Introduction/aims: Duchenne muscular dystrophy (DMD) presents with skeletal muscle weakness, followed by cardiorespiratory involvement. The need for longitudinal data regarding DMD that could serve as a control for determining treatment efficacy in clinical trials has increased notably. The present study examined the longitudinal data of Japanese DMD patients collectively and assessed individual patients with pathogenic variants eligible for exon-skipping therapy.

Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.

Becker muscular dystrophy is caused by mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in mutations and environmental factors. In this case, two brothers, aged 2 and 3 years, had the identical mutation, confirming their Becker muscular dystrophy diagnosis.

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.

Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been fully reported. We report the findings of the initial 2.

Real-Time PCR-Based Screening for Homozygous Deletion Using Residual Dried Blood Spots.

The survival motor neuron 2 () gene is a recognized modifier gene of spinal muscular atrophy (SMA). However, our knowledge about the role of -other than its modification of SMA phenotypes-is very limited. Discussions regarding the relationship between homozygous deletion and motor neuron diseases, including amyotrophic lateral sclerosis, have been mainly based on retrospective epidemiological studies of the diseases, and the precise relationship remains inconclusive.

Electrocardiographic R wave amplitude in V6 lead as a predictive marker of cardiac dysfunction in Duchenne muscular dystrophy.

Purpose: Duchenne muscular dystrophy (DMD) is an inherited muscular disease characterized by progressive and fatal muscle weakness. Electrocardiographic (ECG) abnormalities, including abnormal R wave amplitudes are frequently observed in DMD. However, clinical implications of abnormal R wave amplitudes remain unclear.

Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. 2022, , 2110.

The authors wish to make the following correction to this paper [...

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.

Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure early diagnosis, newborn screening for SMA (SMA-NBS) via PCR-based genetic testing with dried blood spots (DBSs) has been spreading throughout Japan.

Impact after the Change from Voluntary to Universal Oral Rotavirus Vaccination on Consecutive Emergency Department Visits for Acute Gastroenteritis among Children in Kobe City, Japan (2016-2022).

Rotavirus (RV) is the leading cause of acute gastroenteritis (AGE), particularly in infants. In 2006, the high efficacy of oral RV vaccines (RVVs, RotarixTM and RotaTeqTM) was demonstrated. Voluntary RVV started in Japan in 2011, and in October 2020 were launched as universal oral RVVs in Japan.

Magneto-optical diffractive deep neural network.

We propose a magneto-optical diffractive deep neural network (MO-DNN). We simulated several MO-DNNs, each of which consists of five hidden layers made of a magnetic material that contains 100 × 100 magnetic domains with a domain width of 1 µm and an interlayer distance of 0.7 mm.