TAGNet: Learning Configurable Context Pathways for Semantic Segmentation.

State-of-the-art semantic segmentation methods capture the relationship between pixels to facilitate contextual information exchange. Advanced methods utilize fixed pathways for context exchange, lacking the flexibility to harness the most relevant context for each pixel. In this paper, we present Configurable Context Pathways (CCPs), a novel model for establishing pathways for augmenting contextual information.

Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.

Background:  Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness.

Case Presentation:  Herein, we report a case of limb-girdle CMS (LG-CMS) in a 15-year-old Chinese girl with limb weakness and mild ptosis. The patient presented with well-defined clinical manifestations, muscle imaging, and electrophysiological features associated with CMS.

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania.

Background: Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related clinical practice for DMD among the local experts.

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have two heterozygous GMPPB mutations.

[Association of glucocorticoid receptor gene polymorphism with myasthenia gravis].

Objective: To investigate the association of two glucocorticoid receptor (GR) polymorphisms (BclI, ER22/23EK) with Myasthenia Gravis (MG).

Methods: The genotypes of GR in 61 MG patients (MGG) and 57 age and gender-matched healthy controls (HCG) were determined by polymerase chain reaction and nucleotide sequence determination.

Results: The frequencies of three genotypes (GG, CG, CC) in BclIwere 3.

[Effect of shexiang baoxin pill on the function of vascular endothelium in patients with diabetes mellitus type 2 complicated with angina pectoris].

Objective: To study the effect of Shexiang Baoxin pill (SBP) on the vascular endothelial function in patients with diabetes mellitus type 2 (DM2) complicated with angina pectoris.

Methods: Two weeks after runin, according to the randomizing table, 111 patients were divided into two groups, the XBP group (56 patients) and the control group (55 patients, treated with delayed-released isosorbide mononitrate, DRIM), they were treated for 6 months. In the treatment period, the episodes of angina attack and condition of rescue medication were recorded in the daily card, and brachial arterial changes of endothelium-dependent relaxing function before and after treatment were measured by B-ultrasonography.

[Hemimasticatory muscle spasm: an electromyogram analysis].

Objective: To investigate the usefulness of electromyogram (EMG) in the diagnosis of the patients with hemimasticatory spasm (HMS).

Methods: Four cases with HMS were reported. All the 4 patients were undertaken needle and surface electrode EMG examination.

[Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].

Objective: Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO) belong to neurological diseases caused by a defect in the energy-producing system of mitochondria, and are known to be associated with a deletion in the mitochondrial genome. This study was aimed to understand with greater clearness the characteristics of mitochondrial DNA (mtDNA) mutations in 11 Chinese patients with CPEO (7 cases) or KSS (4 cases).

Methods: Densitometry of the bands on Southern blot, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing were performed to search large scale deletions and A3243G point mutation in patients' muscle mtDNA.

[Gene diagnosis of facioscapulohumeral muscular dystrophy].

Objective: To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).

Methods: Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot.

[Association between dystrophin and neuronal nitric oxide synthase in muscles of progressive muscular dystrophy].

Objective: To study the association between dystrophin and neuronal nitric oxide synthase in muscles of progressive muscular dystrophy patients and the role of deficiency of nNOS in pathogenesis of muscular dystrophy.

Methods: NADPH diaphorase enzyme histochemistry and anti-nNOS, anti-dystrophin, and anti-alpha, beta, gamma, delta-sarcoglycan antibody immunohistochemistry were used to analyze the muscle specimens from progressive muscular dystrophiy patients.

Results: Both nNOS and dystrophin were absent in the sarcolemma region of Duchenne muscular dystrophy (DMD) patients.