2020 Consensus Statement of the Taiwan Hypertension Society and the Taiwan Society of Cardiology on Home Blood Pressure Monitoring for the Management of Arterial Hypertension.

To facilitate the applications of home blood pressure (HBP) monitoring in clinical settings, the Taiwan Hypertension Society and the Taiwan Society of Cardiology jointly put forward the Consensus Statement on HBP monitoring according to up-to-date scientific evidence by convening a series of expert meetings and compiling opinions from the members of these two societies. In this Consensus Statement as well as recent international guidelines for management of arterial hypertension, HBP monitoring has been implemented in diagnostic confirmation of hypertension, identification of hypertension phenotypes, guidance of anti-hypertensive treatment, and detection of hypotensive events. HBP should be obtained by repetitive measurements based on the " 722 " principle, which is referred to duplicate blood pressure readings taken per occasion, twice daily, over seven consecutive days. The " 722" principle of HBP monitoring should be applied in clinical settings, including confirmation of hypertension diagnosis, 2 weeks after adjustment of antihypertensive medications, and at least every 3 months in well-controlled hypertensive patients. A good reproducibility of HBP monitoring could be achieved by individuals carefully following the instructions before and during HBP measurement, by using validated BP devices with an upper arm cuff. Corresponding to office BP thresholds of 140/90 and 130/80 mmHg, the thresholds (or targets) of HBP are 135/85 and 130/80 mmHg, respectively. HBP-based hypertension management strategies including bedtime dosing (for uncontrolled morning hypertension), shifting to drugs with longer-acting antihypertensive effect (for uncontrolled evening hypertension), and adding another antihypertensive drug (for uncontrolled morning and evening hypertension) should be considered. Only with the support from medical caregivers, paramedical team, or tele- monitoring, HBP monitoring could reliably improve the control of hypertension.

The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience.

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far. METHODS: Medical records of 39 patients who received a diagnosis of DMD between 1999 and 2016 at Kaohsiung Medical University Hospital were reviewed. The diagnosis of DMD was confirmed through muscle biopsy or DMD genetic analysis. RESULTS: The mean onset age and mean follow-up period were 2.75 years and 6.76 years, respectively. Seventeen patients (43.5%) had a family history of DMD. The mean full intelligence quotient of the patients was 71.08, and the mean age of walking ability loss was 9.7 years (25 patients). The mean onset age of respiratory insufficiency was 10.64 years with a decline rate of 5.18% per year (25 patients). The mean onset age of cardiomyopathy was 14.69 years (seven patients). The mean onset age of scoliosis was 13.29 years with a progression rate of 11.48° per year (14 patients). Eleven (28.2%) and eight (20.5%) patients had deletions and duplications of DMD, respectively. Fourteen patients (35.9%) had point mutations or small deletions or insertions. Five patients received only multiplex ligation-dependent probe amplification (MLPA) analysis and exhibited neither deletion nor duplication. No mutation was identified in one patient through both MLPA and exon sequencing. CONCLUSION: The clinical phenotypes and disease course in our cohort were consistent with that reported in previous studies. However, the proportion of point mutations or small deletions or insertions in our study was considerably higher than that in reports from other populations. Cardiac ejection fraction was found not a reliable biomarker for identifying cardiac problems, discovering a better parameter is necessary.

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia. We identified five patients with a novel homozygous mutation of c.101G>T (p.Arg34Leu) in SGCA from a big aboriginal family ethnically consisting of two tribes in Taiwan. Patient 3 is the maternal uncle of patients 1 and 2. All their parents, heterozygous for c.101G>T, denied consanguineous marriages although they were from the same tribe. The heterozygous parents of patients 4 and 5 were from two different tribes, originally residing in different geographic regions in Taiwan. Haplotype analysis showed that all five patients shared the same mutation-associated haplotype, indicating the probability of a founder effect and consanguinity. The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes. It is important to investigate the prevalence of LGMD2D in Taiwan for early diagnosis and treatment.

Life-threatening Dilated Cardiomyopathy Induced by Late-onset Neonatal Hypocalcemia.

Neonatal seizures caused by hypocalcemia may be associated with cardiopulmonary dysfunction and may require specific management other than calcium supplementation. Severe dilated cardiomyopathy is an extremely rare complication in neonatal hypocalcemia and often results in high morbidity and mortality. We report here a 14-day-old neonate presenting with a gradually increasing frequency of tonic seizures. After admission, arterial desaturation was found despite supplying oxygen (4 L/min) through nasal prongs and the patient developed life-threatening respiratory distress and heart failure secondary to dilated cardiomyopathy. His critical cardiopulmonary derangements rapidly improved after respiratory support, the administration of diuretic and inotropic drugs, and the correction of his hypocalcemia and hypomagnesemia. The patient responded to treatment and was well during the 1-year follow-up period. We present this unique case history of seizure, respiratory distress, and heart failure induced by transient hypocalcemia to remind clinicians about the importance of this rare, life-threatening, but reversible, disorder.

Botulism with Unusual Rapid Progression to Complete Paralysis in a Child.

Botulism is a severe neuroparalytic illness which is difficult to diagnose accurately, especially in children. We report a child with type A botulism intoxication, with very rapid progression to coma-like consciousness and respiratory failure. Careful physical examinations led to the suspicion of botulism, and electrophysiologic examinations, including electroencephalogram and repetitive nerve stimulation tests, further supported the diagnosis. Hospitalization due to botulism had a great emotional impact on the patient and psychological support was crucial.

Carotid intima-media thickness and plaque occurrence in predicting stable angiographic coronary artery disease.

BACKGROUND: Carotid intima-media thickness (CIMT) and plaque formation have been used as surrogate end-points for evaluating the regression and/or progression of atherosclerotic cardiovascular disease, but their predictive value for stable coronary artery disease (CAD) is inconclusive. METHODS: Carotid ultrasonography was performed in patients who underwent noninvasive multislice computed tomography (MSCT) angiography for CAD suspected, due to chest pain. CIMT and plaque formation on the left and right common carotid arteries (CCAs), carotid bulb (CB), and proximal internal carotid arteries (ICAs) were evaluated, and the relationship between angiographic CAD, CIMT, and plaque formation was determined. RESULTS: 120 patients (95 male; 25 female), with a mean age ± standard deviation of 61 ± 11 years (range: 35-89 years) were recruited. Because age had a significant impact on CAD (r = 0.191; P = 0.036), CCA plaques (r = 0.368; P = 0.001), ICA plaques (r = 0.334; P = 0.004), and mean CIMT (r = 0.436; P = 0.001), patients were divided into two groups aged <60 years and ≥60 years. In the <60 years group, CIMT-CB was significantly higher in patients with CAD (P = 0.041), while in the ≥60 years group, mean CIMT, CIMT-CCA, and CIMT-CB were significantly higher in patients with CAD (P < 0.05, for each). In both groups, the occurrence of carotid plaques was significantly higher in patients with CAD than in those without CAD (P < 0.007, for each). After controlling for other risk factors, carotid plaques were an independent predictor of CAD in both groups (P < 0.05, for each), while CIMT-CB could independently predict CAD only in patients ≥60 years old (P = 0.031). CONCLUSION: Our findings suggest that carotid plaques are a strong predictor of stable CAD. However, CIMT-CB could predict stable CAD only in patients over 60 years of age.

Intranuclear rods myopathy with autonomic dysfunction.

Intranuclear rods myopathy (IRM), a variant of nemaline myopathy (NM), is characterized by rod structure in the myonuclei. Patients with IRM present with similar symptoms to those of severe infantile-type NM but have worse outcome. Several extramuscular manifestations have been reported in NM but no dysautonomia. We herein report a 2-year-old girl with IRM and a heterozygous mutation, c.430C>T (p.L144F) in ACTA1. During the infancy, the patient showed severe diaphoresis and facial flushing. Arrhythmia and hypertension with the precipitating factors of feeding, defecation, and urination were observed. Sympathetic antagonist was prescribed and showed some effectiveness. Our report may widen the clinical spectrum of IRM. It also reminds clinicians that autonomic dysfunction may occur in patients with IRM or other actinopathies and appropriate treatment may be necessary.

Is guidewire exchange a better approach for subclavian vein re-catheterization for chronic hemodialysis patients?

BACKGROUND: The objectives of this study were to compare outcomes and survival rates of subclavian vein re-catheterization through guide wire exchange (GWE) or de novo insertion (DN). MATERIALS AND METHODS: The study was conducted in a retrospective manner. Medical records of 36 patients who received percutaneous subclavian vein re-catheterization for hemodialysis in our institution during the period from April 1, 2001 to September 30, 2004 were reviewed. All patients had at least 2 catheter insertions records in our institute. Incidences of adverse events (infection, thrombosis) were compared between GWE and DN groups using x2 test. Predictors for adverse event occurrences were analyzed using logistic regression models. Cox proportional hazard model was used to investigate the predictors for adverse event-free catheter days. Kaplan-Meire survival curves were computed and compared using log rank test. RESULTS: Information were generated from 98 catheters (41 from DN, 57 from GWE groups). The average catheter usage was 2.8+/-0.9 devices per patient and the mean catheter-indwelling-day was 125.4+/-129.5 days in this cohort. We found GWE group had significantly lower thrombosis rate (49.1% vs. 85.4% for DN group, P<0.000) in general. Surgical approach was a significant risk factors for catheter thrombosis (GWE vs. DN, odds ratio=0.261, P=0.05). The actuarial survival rates for GWE were > or =30 days, 85.4%; > or =60 days, 75.5%; > or =90 days, 64.5%; > or =180 days, 44.3%. The actuarial survival rates for DN were > or =30 days, 70.7%; > or =60 days, 58.5%; > or =90 days, 34.2%; > or =180 days, 18.4%. GWE group catheters had significantly higher catheter survival rates (P=0.0009). Mahukar catheter (hazard ratio 0.514, P=0.03), non-shock (hazard ratio 3.358, P=0.04), and older age (hazard ratio 0.958, P=0.026) were predictors of adverse event-free remaining catheter days. CONCLUSION: We suggest that GWE might be a favorable option over DN insertion when revised subclavian vein catheterization is inevitable. GWE can be performed repeatedly without compromising catheter outcomes.