Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Background: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS.

Methods: A total of 24 patients from 21 Han-Taiwanese families were enrolled and underwent comprehensive physical and audiological examinations.

Hearing Impairment with Monoallelic GJB2 Variants: A GJB2 Cause or Non-GJB2 Cause?

Recessive variants in GJB2 are the most common genetic cause of sensorineural hearing impairment. However, in many patients, only one variant in the GJB2 coding region is identified using conventional sequencing strategy (eg, Sanger sequencing), resulting in nonconfirmative diagnosis. Conceivably, there might be other unidentified pathogenic variants in the noncoding region of GJB2 or other deafness-causing genes in these patients.

The effect of electroacupuncture merged with rehabilitation for frozen shoulder syndrome: A single-blind randomized sham-acupuncture controlled study.

Purpose: Frozen shoulder syndrome (FSS) causes pain and reduces the range of motion in the shoulder joint. To investigate the short and medium-term effects of electroacupuncture in people with FSS, we evaluated the therapeutic effects of true and sham electroacupuncture on pain relief and improvement of shoulder function.

Methods: In this randomized, single-blind controlled clinical trial, 21 subjects with FSS were randomly assigned to two groups: a true electroacupuncture group (TEAG) and a sham electroacupuncture group (SEAG).

Codeine consumption from over-the-counter anti-cough syrup in Taiwan: A useful indicator for opioid abuse.

Objective: Over-the-counter (OTC) anti-cough preparations, many of which contain codeine (an opioid) or dextromethorphan (an opioid-like), are widely available in Taiwan and thus susceptible to overuse or abuse. We aimed to investigate whether opioids in the form of OTC antitussives play a significant role in medication abuse in Taiwan.

Methods: Data on the consumption of codeine and dextromethorphan in antitussives and expectorants from 2011 through 2014 in Taiwan were provided by IMS Health (Intercontinental Marketing Services).

The Effects of Acupuncture on Cerebral and Muscular Microcirculation: A Systematic Review of Near-Infrared Spectroscopy Studies.

Acupuncture produces physiological effects via stimulating acupoints, proximal or distal to the region of effect. Near-infrared spectroscopy (NIRS) noninvasively measures tissue-level hemodynamics in real time. We review the literature investigating the effect of acupuncture on muscular and/or cerebral microcirculation.

Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.

Background & Aims: Many studies have reported that serum total homocysteine (tHcy) levels in cystathionine-beta-synthase (CBS) carriers are usually normal and only elevated after a methionine load. However, the amount of methionine required for a loading test is non-physiological and is never reached with regular feeding. Therefore, CBS carriers do not seem to be at an increased risk of cardiovascular diseases.

Cerebral hemodynamic responses to acupuncture in migraine patients: a systematic review.

We review the literature conjoining acupuncture, migraine, and cerebral hemodynamics. To do so, we searched PubMed in March 2013 for studies investigating cerebral hemodynamics with functional magnetic resonance imaging (fMRI), near-infrared spectroscopy (NIRS), transcranial Doppler (TCD) ultrasound, and other tools in migraineurs, acupuncture recipients, and migraineurs receiving acupuncture. Our search identified 1321 distinct articles - acupuncture (n = 463), migraine (n = 866), and both (n = 8).

Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.

The manifestations of glycogen storage disease type 1a (GSD 1a) are usually so prominent in childhood that it is readily diagnosed by pediatricians. However, a mild form of the disease may only become apparent during adolescence or adulthood. We observed a brother and sister with subtle manifestations of the disease, which was discovered after the brother's son was diagnosed with typical GSD 1a.

Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.

The newborn screening of homocystinuria in Taiwan has never been formally reported before. Since 1984, out of 5 million newborns screened, only 3 newborns (Han Taiwanese) suffering from homocystinuria were detected in this newborn screening program. Four mutations (p.

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.

The clinical observation and treatment of young children with sitosterolemia has rarely been reported. We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene. The R389H mutation was found in 50% of alleles.

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

Background: Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. Although only 44 mutations of the human TG gene have been identified, we have suspected a TG defect in 38% of Taiwan Chinese children/adolescents presenting with moderate or severe thyroidal dyshormonogenesis.

Study Objective: The aim of the study is to report the discovery of new TG gene mutations and associated clinical manifestations of the defective TG protein.

Antihypertensive effects of tannins isolated from traditional Chinese herbs as non-specific inhibitors of angiontensin converting enzyme.

The tannins are natural polyphenols, able to precipitate water-soluble alkaloids and possess an inhibitory action on the angiotensin converting enzyme (ACE). We identified 18 polyphenolic compounds (tannins) from Chinese herbs and examined the in vitro effects of these tannins on ACE activity, including determination of the 50% inhibitory concentrations (IC50), specificity and mode of inhibition. We also assessed the in vivo inhibitory effect of the tannins on angiotensin I-induced blood pressure elevation in spontaneously hypertensive rats (SHR).

The in vitro inhibitory effects of crude extracts of traditional Chinese herbs on 3-hydroxy-3-methylglutaryl-coenzyme A reductase on Vero cells.

Cardiovascular disease is still the leading cause of death in Western countries. Epidemiological studies have shown that hypercholesterolemia is a major risk factor for coronary artery disease. Clinical trials of lipid lowering therapy with 3-hydroxy-3-methylglutaryl coenzyme A (HMG Co-A) reductase inhibitor have been shown to decrease coronary events and mortality.