Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.

Purpose: To explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners.

Methods: Retrospective analysis of clinical data and muscle pathology of two ATS families, along with genetic testing for probands and some family members.

Results: In Family 1, spanning four generations, four individuals were affected, while Family 2 had two affected individuals across four generations.

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.

Background: Nemaline myopathy, the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to investigate the clinical features, muscle pathology and genetic features of 15 patients with nemaline myopathy.

Results: Among the 15 patients, there were 9 (60.

PVT1/miR-16/CCND1 axis regulates gastric cancer progression.

Long non-coding RNA plasmacytoma variant translocation 1 (PVT1) has been reported to be a vital modulator in tumorigenesis of gastric cancer (GC). However, the detailed regulatory mechanism of PVT1 in GC remains largely unclear. In this work, the expressions of PVT1 and microRNA-16 (miR-16) were detected by quantitative real-time PCR (qRT-PCR) in GC tissues and cell lines.

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

Objective: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ptosis, dysarthria, ophthalmoplegia, and distal muscle weakness. Recent studies revealed that GGC repeat expansions in 5'-UTR of LRP12, GIPC1, and NOTCH2NLC are associated with OPDM. Despite these advances, approximately 30% of OPDM patients remain genetically undiagnosed.

Feedback Delay of Sports Intelligent Learning System Based on Model Predictive Control.

In this paper, a trajectory tracking controller based on linear time-varying model prediction is developed, and the model predictive control theory based on the six degrees of freedom dynamic model and tire model is applied. Combined with the soft constraint of turning angle and the control algorithm to ensure the stability, the trajectory tracking is realized. The terminal node is a wearable device.

LncRNA LINC00963 promotes colorectal cancer cell proliferation and metastasis by regulating miR‑1281 and TRIM65.

Reportedly, long‑chain non‑coding RNA LINC00963 features prominently in cancer biology. However, functional details of LINC00963 in colorectal cancer (CRC) remain to be elucidated. Reverse transcription‑quantitative (RT‑q)PCR was performed to examine LINC00963 and microRNA (miR)‑1281 expression levels in 53 matched pairs of cancerous and non‑cancerous tissues from patients with CRC.

Diabetic polyneuropathy and carpal tunnel syndrome together affect hand strength, tactile sensation and dexterity in diabetes patients.

Aims/introduction: Carpal tunnel syndrome (CTS) and diabetic polyneuropathy (DPN) can occur together, and this concomitance is thought to be higher in diabetes patients. We aimed to examine and compare hand function in type 2 diabetes mellitus patients without CTS and DPN (CTS-DPN-), patients with CTS without DPN (CTS+DPN-), patients with DPN without CTS (CTS-DPN+), and patients with CTS and DPN (CTS+DPN+).

Materials And Methods: A total of 161 type 2 diabetes mellitus patients underwent physical examination and electrodiagnostic tests.

Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy.

: To investigate the clinical features, skeletal muscle imaging, muscle pathology, blood smear and so on of neutral lipid storage disease with myopathy (NLSDM) caused by PNPLA2 gene mutation. : The clinical data, skeletal muscle imaging, pathological data, and genetic test results of a patient with NLSDM treated in our hospital were collected in detail, and the previous literature was reviewed and compared. : The main symptoms were muscle weakness and muscular atrophy.

The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa.

To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults. The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-onset GSD IIIa in adulthood were collected in detail in November 2019. The proband is a 40-years-old male, who was admitted into our hospital due to a 2-years history of limb weakness.

Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia.

The aim of the present study was to explore the clinical, neuroelectrophysiological and muscular pathological characteristics of chronic progressive external ophthalmoplegia (CPEO) and to improve the understanding of CPEO. Clinical manifestations, neuroelectrophysiology and pathological features of muscle biopsies from 12 patients with CPEO were retrospectively analyzed. The average age of onset for the 12 patients (6 males and 6 females) was 17.

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.

To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of normokalemic periodic paralysis (NormoKPP) caused by mutation of SCN4A gene p.R675Q. The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with NormoKPP were collected in detail in October 2018.