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Background This study aimed to evaluate the demographic, clinical features, laboratory data, pathology and other survey in pediatric patients with cryofibrinogenemia. Methods A 12-year retrospective chart review identified eight pediatric patients at Mackay Memorial Hospital, Taipei, Taiwan. Results The female-to-male ratio was 3:1. The mean age at symptom onset and of diagnosis was 10.3 ± 4.6 years and 12.3 ± 4 years, respectively. One child (12.5%) had primary cryofibrinogenemia. The common symptoms were purpura, arthralgia, and muscle weakness (100%). On laboratory examination, cryofibrinogen was positive in all patients. All patients had increased anti-thrombin III while 87.5% and 62.5% had abnormal protein S and protein C, respectively. All eight also complained of neurologic symptoms. One had vertebral artery narrowing, two showed increased T2-weighted signal intensity on the thalamus or white matter, and one had acute hemorrhagic encephalomyelitis on brain magnetic resonance imaging. Conclusions This study reports on the presentations of cryofibrinogenemia, which is rare in children. Most cases are associated with autoimmune disease and have severe and complex presentations. Central nervous system involvement is common.

Introduction Objective sleep duration has been suggested to be a novel biomarker in the phenotyping of insomnia (Vgontzas & Fernandez-Mendoza, 2013). It was hypothesized that insomnia phenotype with PSG-defined short sleep duration (< 6 hours) is associated with physiological hyperarousal, while the phenotype with normal sleep duration (≥ 6 hours), is associated with anxious-ruminative psychological profile and poor resources for coping with stress. The aim of this study was to assess whether these two insomnia phenotypes differ in terms of self-reported psychological and physiological features. Methods A total 45 (mean age=36.6, female=76%) insomnia patients underwent a polysomnographic evaluation, completed several self-rating scales (include ISI, BAI, BDI, FIRST, DBAS, and PSAS), and were split into two groups base on their objective sleep duration (cut-off 6 hours). Results When compared to the short sleep group using independent sample t-test, the normal sleep group showed a significant higher mean score on FIRST (t= -2.13; p< .05). The short sleep group showed non-significant trends to have higher mean scores on BDI and BAI. The scores on the other scales showed no significant differences between the two groups. The FIRST score correlated positively with the score of DBAS (r= 0.32; p< .05) and the total (r= 0.36; p< .05) and cognitive-subscale scores (r= 0.41; p< .01) on PSAS. The BAI score correlated positively with the score of the total (r= 0.53; p< .001) and somatic subscale (r= 0.59; p< .001) on PSAS. Conclusion These results support the hypotheses that the normal sleep phenotype tends to be more vulnerable to the impact of stress, especially on sleep, due to pre-sleep cognitive hyperarousal. Since the BAI scale contains more items regarding physiological symptoms of anxiety disorders, the tendency of higher BAI score in short sleep group may indicate that the short sleep phenotype has higher physiological arousal, which supports the phenotyping model proposed by Vgontzas and Fernandez-Mandoza. Support (if any)

Background: Although the current consensus recommends a standard treatment of high-dose intravenous immunoglobulin with high-dose aspirin to manage Kawasaki disease (KD), the use of different adjunctive therapies remains controversial. The aim of current network meta-analysis (NMA) was to compare the efficacy and tolerability of different existing interventions for the initial stage and the refractory stage of KD. Methods: The current NMA of randomized controlled trials (RCTs) was conducted under the frequentist model. Findings: Total fifty-six RCTs with 6,486 participants were included. The NMA demonstrated that the medium intravenous immunoglobulin (IVIG) + aspirin + infliximab [mean difference=−1.76 days (95% confidence intervals (95%CIs): −3.65 to 0.13 days) compared to high IVIG + aspirin] had the shortest fever duration; likewise, the medium IVIG + aspirin + infliximab [odds ratio (OR)=0.50, 95%CIs: 0.18 to 1.37 compared to high IVIG + aspirin] had the least CAL incidence in the initial-stage KD. The high IVIG + pulse steroid therapy (OR=0.04, 95%CIs: 0.00 to 0.43 compared to the high IVIG only) had the best fever subsided rate; likewise, the high IVIG + ciclosporin [OR=0.05 (95%CIs: 0.00 to 1.21) compared to the high IVIG only] had the least CAL incidence in the refractory-stage KD. Interpretation: The current NMA demonstrates that the addition of infliximab plus current standard therapy might be the best treatment for acute KD. Conversely, ciclosporin plus IVIG serves as the best choice for lower the CAL incidence in refractory KD. Further controlled trials are warranted to confirm these findings. Funding Statement: The authors of this work did not receive any grant supports. Brendon Stubbs is supported by a Clinical Lectureship (ICA-CL-2017-03-001) jointly funded by Health Education England (HEE) and the National Institute for Health Research (NIHR). Brendon Stubbs is part funded by the NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust. Brendon Stubbs is also supported by the Maudsley Charity, King’s College London and the NIHR South London Collaboration for Leadership in Applied Health Research and Care (CLAHRC) funding. This paper presents independent research. The views expressed in this publication are those of the authors and not necessarily those of the acknowledged institutions. Declaration of Interests: The authors report no financial interests or potential conflicts of interest.

Background The recurrence rate of Henoch-Schönlein purpura (HSP) is 2.7%–30%, with varied average intervals between the first and second episodes. Few studies have explored the incidence and risk factors for recurrent HSP. Methods We used a 16-year nationwide database to analyze the incidence of recurrent HSP. Patients with HSP were identified, and risk factors for recurrent HSP were explored. Kaplan-Meier and Cox regression model analyses were performed, and covariates were adjusted in the multivariate model. Results From January 1, 1997 to December 31, 2012, among 2,886,836 individuals in the National Health Insurance Research Database, 1002 HSP patients aged 10 days (adjusted hazard ratio, 8.13; 95%CI, 2.51–26.36; p 10 days should be notified regarding the possibility of recurrence. Electronic supplementary material The online version of this article (10.1186/s12969-018-0247-8) contains supplementary material, which is available to authorized users.

In this study, a new type of fiber-based mechanomyography (MMG) sensor was developed and used as a motion on/off trigger sensor for a lower limb rehabilitation exoskeleton (LLRE). Piezoelectric material, polyvinylidene difluoride (PVDF), was applied to fabricate a MMG sensor, using the near-field electrospinning technology to electrically spin PVDF fibers to ∼5-10 μm in diameter. PVDF fibers attached on an interdigitated (IDT) electrode with different pole pairs and interspaces were packaged into a MMG sensor. This MMG sensor was stuck on the thigh muscles to detect and acquire human motion intention signal, then trigger the controller and actuate the LLRE. The LLRE multi-axis control system included a master and four slave controllers. The master controller released the command signal to control the slave controllers via controller area network (CAN). A multi-axis control system was developed to actuate the joints of hips and knees of both legs by the LLRE. In the study, commercial electromyography (EMG) sensors were also to compare with the as-made MMG sensors. Results showed that the maximum signal amplitude of the commercail EMG sensor was about ∼0.2 V, whereas the MMG sensor was about ∼2.8 V. The signal-to-noise ratio (SNR) of EMG was about ∼4, while that of MMG was about ∼25. From physiological signals captured from the MMG sensor for the human walking with the LLRE, this new sensor improved the sensitivity in driving the LLRE.

Cystic fibrosis (CF) is one of the most common autosomal recessive inherited disorders among Caucasians. Comparatively, it is considered to be a rare disease among Asians. To date, only a few cases of Taiwanese CF have been published. We report four CF cases from three families. Case 1 was the first report of CF associated with a homozygosity for the CF transmembrane conductance regulator gene (CFTR gene) mutation 3849+10kb C->T in a Taiwanese patient. Cases 2 and 3 had heterozygous c. 1898+5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation. Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with cor pulmonale. These four patients had received 300 mg bid aerosolized tobramycin treatment every other month.

We report a 3-year-old girl with Kawasaki disease who presented with retropharyngeal edema and shock syndrome. This is the first reported case in Taiwan. The patient initially presented with fever, cough, and pyuria followed by rapidly progressive enlarged bilateral cervical lymphadenopathy. On the third day of the fever, computed tomography for airway compression sign found widening of the retropharyngeal space mimicking a retropharyngeal abscess. Later, an endotracheal tube was inserted for respiratory distress. A skin rash over her trunk was also noted. On the fifth day of the fever, the clinical course progressed to hypotension and shock syndrome. Because of more swelling of bilateral neck lymph nodes, computed tomography was arranged again and revealed partial resolution of the edematous changes in the retropharyngeal space. Edema of the hands and feet, bilateral bulbar conjunctivitis, and fissured lips were subsequently found. The diagnosis of Kawasaki disease was confirmed on the eighth day of fever. There was no evidence of bacterial infection. She was administered intravenous immunoglobulin (2 mg/kg) and high dose aspirin (100 mg/kg/day). One day later, the fever subsided, and her blood pressure gradually became stable. Heart echocardiography on the Day 13 revealed dilated left coronary artery and mitral regurgitation. Follow-up echocardiography six months later showed normal coronary arteries. To date, the patient has not experienced any complications. This case illustrates that retropharyngeal edema and shock syndrome can be present in the same clinical course of Kawasaki disease. Clinicians and those who work in intensive care units should be aware of unusual presentations of Kawasaki disease to decrease rates of cardiovascular complications.

Background Aeroallergen sensitization may predict higher fractional exhaled nitric oxide (FeNO) levels. Objective We evaluate cut-off values of FeNO in asthmatic children with and without positive specific immunoglobulin E (IgE) to at least one of 5 aeroallergens (Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat, dog, and cockroach). Methods 564 patients with asthma and allergic rhinitis (AR) aged 5 to 18 years were enrolled into two groups. Sensitized group included 378 children with positive IgE to at least one of 5 inhaled allergens. Non-sensitized group included 186 children. Pulmonary function tests, FeNO, eosinophil counts, and IgE levels were examined. Patients were divided into preschool age (5~6 years old), elementary school children (7~11 years old) and adolescents (12~18 years old). Results In preschool children, FeNO≥15.5 ppb differentiates between non-sensitized and sensitized groups. (sensitivity 54.3%; specificity 87.5%; positive predictive value (PPV) 86.2%; negative predictive value (NPV) 57.1%; area under receiver operating characteristic curve (AUC) 0.72) Among elementary school children, the cut-off value of FeNO≥19.5 ppb showed sensitivity 66.4%; specificity 85.8%; PPV 90.5%; NPV 55.7%; AUC 0.81. In adolescents, FeNO≥27.5 ppb showed sensitivity 60.2%; specificity 85.4%; PPV 91.2%; NPV 46.1%; AUC 0.76. Conclusion In asthmatic children, aeroallergen sensitization appears to contribute to higher FeNO levels than those not sensitized. Cut-off values of FeNO which well discriminate asthmatic children with and without aeroallergen sensitization should be chose according to different ages.

Residents of the Pingtung Plain, Taiwan, use groundwater for drinking. However, monitoring results showed that a considerable portion of groundwater has an As concentration higher than the safe drinking water regulation of 10 μg/L. Considering residents of the Pingtung Plain continue to use groundwater for drinking, this study attempted to evaluate the exposure and health risk from drinking groundwater. The health risk from drinking groundwater was evaluated based on the hazard quotient (HQ) and target risk (TR) established by the US Environmental Protection Agency. The results showed that the 95th percentile of HQ exceeded 1 and TR was above the safe value of threshold value of 10-6. To illustrate significant variability of the drinking water consumption rate and body weight of each individual, health risk assessments were also performed using a spectrum of daily water intake rate and body weight to reasonably and conservatively assess the exposure and health risk for the specific subgroups of population of the Pingtung Plain. The assessment results showed that 0.01-7.50 % of the population's HQ levels are higher than 1 and as much as 77.7-93.3 % of the population being in high cancer risk category and having a TR value >10-6. The TR estimation results implied that groundwater use for drinking purpose places people at risk of As exposure. The government must make great efforts to provide safe drinking water for residents of the Pingtung Plain.

Hereditary angioedema (HAE) due to C1 inhibitor deficiency (C1-INH) is a rare complement immunodeficiency disease. It is an autosomal dominant condition with an estimated prevalence of approximately 1:50,000 to 100,000 in Western countries and 1: 1,000,000 in Taiwan. HAE can be categorized into three different types. Type I HAE results from low antigenic and functional levels of C1INH. Type II HAE is associated with a normal C1-INH protein level but impaired function. Type III HAE has been described in women only and presents normal C1-INH levels and function. In Taiwan, all of the reported cases were type I HAE. In this report,wedescribe thefirst caseof type II HAE inTaiwan. A 37-year-old man visited Mackay Memorial Hospital, Taipei, becauseof recurrent abdominal painwith syncope for 2 months. He suffered from spontaneous lip, limbs, and perineum eruption with nonpitting edema since 2009, but there was no identified trigger. The skin lesion onset was about three to five times a year and the usual duration was 3e4 days, afterwhich the symptoms resolved spontaneously. Severe abdominal pain with syncope occurred in July 2014. Physical examination showed periumbilical tenderness with muscle guarding noted but no rebounding pain. Abdominal computed tomography showed edematous of the duodenum

Pachydermodactyly (PDD), Greek for thick-skin-finger, is an infrequently recognized benign disorder characterized by painless fusiform swelling of the soft tissues around the proximal interphalangeal joints of the hands. Histopathologic features include increased dermal accumulation of collagen fibers. Young males are predominantly affected. PDD is quite rare with approximately 90 cumulative cases reported worldwide. We report three new cases of PDD in Taiwan, including two female patients. Except for patient 1 having the habit of cracking the knuckles, and patient 2 having a history of patent ductus ateriosus post catheterization, the histories of all three patients were unremarkable. X-ray of bilateral hands revealed no abnormal finding except for soft tissue swelling around proximal interphalangeal joints. Laboratory examinations all showed negative results. No local or systemic treatment was given to these patients to treat PDD, with the exception of non-steroidal anti-inflammatory drugs prescribed to one patient for a short period. Skin care with local irritation avoidance was explained to all three patients. The long-term outcome of PDD was benign.