Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.

Background: Muscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.

Methods: This study aimed to investigate the use of whole exome sequencing (WES) in diagnosing muscular disorders in pediatric patients in Taiwan. Out of 161 pediatric patients suspected to have genetic/inherited myopathies, 115 received a molecular diagnosis through conventional tests, single gene testing, and gene panels.

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome.

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.

Silver-Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by prenatal and postnatal growth failure. The aim of this study was to identify the epigenotype-phenotype correlations in these patients using quantitative DNA methylation analysis. One hundred and eighty-three subjects clinically suspected of having SRS were referred for diagnostic testing by the methylation profiling of -associated imprinting center (IC) 1 and imprinted regions using methylation-specific high-resolution melting analysis and methylation quantification with the MassARRAY assay.

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.

22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability.

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types of MPS have autosomal recessive inheritance in which two copies of an abnormal allele must be present in order for the disease to develop. In this study, we present the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI.

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.

Mucopolysaccharidosis type IVA (MPS IVA or Morquio A), a lysosomal storage disease with an autosomal recessive inherited pattern, is induced by gene mutations causing deficiency in N-acetylgalactosamine-6-sulfatase activity (GALNS; EC 3.1.6.

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.

Background: Mucopolysaccharidosis II (MPS II) is an X-linked disorder resulting from a deficiency in lysosomal enzyme iduronate-2-sulfatase (IDS), which causes the accumulation of glycosaminoglycans (GAGs) in the lysosomes of many tissues and organs, leading to progressive cellular dysfunction. An MPS II newborn screening program has been available in Taiwan since 2015. The aim of the current study was to collect and analyze the long-term follow-up data of the screen-positive subjects in this program.

Transareolar single-port endoscopic thoracic sympathectomy with a flexible endoscope for primary palmar hyperhidrosis: a prospective randomized controlled trial.

Background: Transareolar single-port endoscopic thoracic sympathectomy (ETS) with a flexible endoscope has rarely been reported. This study assessed the performance of this novel minimally invasive technique for primary palmar hyperhidrosis (PPH).

Methods: From January 2019 to September 2019, 118 males with severe PPH requiring single-port and bilateral ETS were randomly allocated to undergo transareolar ETS using a flexible endoscope (group A, n=58) or transaxillary ETS using a 5 mm thoracoscope (group B, n=60).

Involvement of activin a receptor type 1 (ACVR1) in the pathogenesis of primary focal hyperhidrosis.

The pathogenesis of primary focal hyperhidrosis (PFH) is still not clear. PFH is thought to be a genetic disease. Whether activin A receptor type 1 (ACVR1) is involved in the pathogenesis of PFH is unknown.

Nonintubated Needlescopic Thoracic Sympathectomy for Primary Palmar Hyperhidrosis: A Randomized Controlled Trial.

Background: Conventional endoscopic thoracic sympathectomy (ETS) is usually performed with 5-mm thoracoscope under general anesthesia with endotracheal intubation. Needlescopic thoracic sympathectomy under total intravenous anesthesia without intubation has rarely been attempted. This randomized controlled trial assesses the feasibility and safety of this minimally invasive therapeutic procedure in managing primary palmar hyperhidrosis.

Sequential treatment strategy for malignant pleural effusion in non-small cell lung cancer with the activated epithelial grow factor receptor mutation.

With the advent of molecularly targeted therapy, it is necessary to reconsider the strategy for malignant pleural effusion in non-small-cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) mutations. The aim of this study was to evaluate the efficacy of a two-line sequential treatment strategy in this patient subgroup. First-line treatment was gefitinib (250 mg/day) until disease progression.

Overexpression of AQP5 Was Detected in Axillary Sweat Glands of Primary Focal Hyperhidrosis Patients.

Background: The expression of aquaporin 5 (AQP5) in human axillary sweat glands has never been studied so far.

Objective: To detect the expression of AQP5 in axillary sweat glands of patients with primary focal hyperhidrosis (PFH) relative to control subjects.

Methods: The morphological characteristics and the number of sweat coils in axillary sweat glands were compared between two groups by using transmission electron microscopy.

Nonintubated transareolar single-port thoracic sympathicotomy with a needle scope in a series of 85 male patients.

Background: Traditional endoscopic thoracic sympathicotomy is usually performed through an axillary incision with 5-mm thoracoscope under general anesthesia with endotrachea intubation. Nonintubated transareolar single-port thoracic sympathicotomy with a needle scope has rarely been attempted. The objective of this study is to evaluate the feasibility and safety of this minimally invasive technique in managing primary palmar hyperhidrosis (PPH).

Opposing actions of TRPV4 channel activation in the lung vasculature.

Objectives: Transient receptor potential vanilloid 4 (TRPV4) calcium channels are known to promote endothelium-dependent relaxation of mouse mesenteric arteries but TRPV4's role in the pulmonary vasculature is uncertain. Thus, we characterized TRPV4 channel vascular tone regulation in mouse main pulmonary artery rings and in the isolated perfused pulmonary circulation and studied possible mechanisms behind these characterizations.

Methods And Results: Using myography and a TRPV4 specific agonist GSK1016790A in a C57BL/6 WT mouse model of isolated constant-flow lung perfusion, we studied vascular tone regulation in arterial rings from the main left and right pulmonary arteries and vascular resistance of the intra-pulmonary circulation beyond the second branches of the pulmonary arteries.

Nation wide epidemiological survey of primary palmar hyperhidrosis in the People's Republic of China.

Objective: To investigate the prevalence and epidemiological characteristics of primary palmar hyperhidrosis (PPH) among adolescents in PR China.

Methods: A nationwide survey was performed, including all seven geological areas of Mainland China. Stratified cluster sampling was performed, and a cross-sectional epidemiological survey was applied via questionnaire among 10,000 college students in each geological area.

β-elemene reverses the drug resistance of lung cancer A549/DDP cells via the mitochondrial apoptosis pathway.

β-elemene (β-ELE) is a new anticancer drug extracted from Curcuma zedoaria Roscoe and has been widely used to treat malignant tumors. Recent studies have demonstrated that β-ELE reverses the drug resistance of tumor cells. To explore the possible mechanisms of action of β-ELE, we investigated its effects on cisplatin-resistant human lung adenocarcinoma A549/DDP cells.

[Transaxillary concealing single incision endoscopic thoracic sympathectomy in the treatment of palmar hyperhidrosis: a novel surgical approach].

Objective: To evaluate the cosmetic effect and safety of transaxillary concealing single incision endoscopic thoracic sympathectomy in the treatment of palmar hyperhidrosis (PH).

Methods: Retrospective study was conducted for 326 PH cases undergoing transaxillary concealing single incision endoscopic thoracic bilateral sympathectomy during January 2009 and March 2011.

Results: All operations were successfully performed without severe complication and mortality.

Long-term results of a randomized, double-blind, and placebo-controlled phase III trial: Endostar (rh-endostatin) versus placebo in combination with vinorelbine and cisplatin in advanced non-small cell lung cancer.

Background:  : Phase II-III trials in patients with untreated and previously treated locally advanced or non-small cell lung cancer (NSCLC) suggested that Endostar was able to enhance the effect of platinum-based chemotherapy (NP regimen) with tolerable adverse effects.

Methods: Four hundred and eighty six patients were randomized into two arms: study arm A: NP plus Endostar (n = 322; vinorelbine, cisplatin, Endostar), and study arm B: NP plus placebo (n = 164; vinorelbine, cisplatin, 0.9% sodium chloride).

[Trans-areola single port endoscopic thoracic sympathectomy for the treatment of palmar hyperhidrosis: a new surgical approach].

Objective: To evaluate the cosmetic effects and safety profiles of trans-areola single port endoscopic thoracic sympathectomy.

Methods: A retrospective study was conducted for 45 males and 7 females with palmar hyperhidrosis undergoing trans-areola single port endoscopic thoracic bilateral sympathectomy during April and June 2011.

Results: All operations were successfully performed without severe morbidity and mortality.

Prevention of chylothorax complicating extensive esophageal resection by mass ligation of thoracic duct: a random control study.

Background: Chylothorax after esophagectomy remains a devastating postoperative complication. Prophylactic mass ligation of the thoracic duct during the extensive resection of esophageal cancer is used to prevent the chylothorax, but there are few published data about its effect. This randomized controlled study was designed to evaluate the preventive effect of thoracic duct mass ligation on postoperative chylothorax.

[Video-assisted thoracoscopic extended thymectomy for myasthenia gravis: report of 62 cases].

Objective: To evaluate the clinical value of video-assisted thoracoscopic extended thymectomy for myasthenia gravis(MG).

Methods: Sixty-two MG cases underwent video-assisted thoracoscopic extended thymectomy. The operative extension included thymus tissue and adipose tissue in anterior superior mediastinum.