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The purpose of this study was to investigate the performance of high-frequency ultrasound (HFUS) and shear wave elastography (SWE) in the quantitative evaluation of therapeutic responses of keloids. 43 patients with 76 keloids were recruited into this study. In keloids and symmetrical sites, the skin thickness was measured using HFUS and skin stiffness expressed as elastic moduli (Young’s modulus and shear wave velocity) was measured using SWE. The coefficient of variation values were calculated by using difference values of skin elastic moduli and skin thickness. A significant increase of both skin stiffness and thickness appeared in pre-treated keloids compared with post-treated keloids (P < 0.001) and normal controls (P < 0.001), respectively. Stiffness in post-treated keloids and normal skins was significantly different (P < 0.001), while the difference in thickness measurements showed no significance (P = 0.56, >0.05). The coefficient of variation of Young’s modulus was the highest when compared between (i) pre-treated keloids and theirs site-matched areas; (ii) pre-treated and post-treated keloids. SWE, which showed greater ability in determining the extent of keloids recovery, may provide an ideal tool to assess the stiffness of keloids and theirs therapeutic response.

Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in lysosomes results in cellular dysfunction and clinical abnormalities. The early initiation of enzyme replacement therapy (ERT) can slow or prevent the development of severe clinical manifestations. MPS I and II newborn screening has been available in Taiwan since August 2015. Infants who failed the recheck at recall were referred to MacKay Memorial Hospital for a detailed confirmatory diagnosis. Methods From August 2015 to November 2017, 294,196 and 153,032 infants were screened using tandem mass spectrometry for MPS I and MPS II, respectively. Of these infants, 84 suspected cases (eight for MPS I; 76 for MPS II) were referred for confirmation. Urinary first-line biochemistry examinations were performed first, including urinary GAG quantification, two-dimensional electrophoresis, and tandem mass spectrometry assay for predominant disaccharides derived from GAGs. If the results were positive, a confirmative diagnosis was made according to the results of leukocyte enzymatic assay and molecular DNA analysis. Leukocyte pellets were isolated from EDTA blood and used for fluorescent α-iduronidase (IDUA) or iduronate-2-sulfatase (IDS) enzymatic assay. DNA sequencing analysis was also performed. Results Normal IDS and IDUA enzyme activities were found in most of the referred cases except for four who were strongly suspected of having MPS I and three who were strongly suspected of having MPS II. Of these infants, three with novel mutations of the IDS gene (c.817C > T, c.1025A > G, and c.311A > T) and four with two missense mutations of the IDUA gene (C.300-3C > G, c.1874A > C; c.1037 T > G, c.1091C > T) showed significant deficiencies in IDS and IDUA enzyme activities (< 5% of mean normal activity), respectively. Urinary dermatan sulfate and heparan sulfate quantitative analyses by tandem mass spectrometry also demonstrated significant elevations. The prevalence rates of MPS I and MPS II in Taiwan were 1.35 and 1.96 per 100,000 live births, respectively. Conclusions The early initiation of ERT for MPS can result in better clinical outcomes. An early confirmatory diagnosis increases the probability of receiving appropriate medical care such as ERT quickly enough to avoid irreversible manifestations. All high risk infants identified in this study so far remain asymptomatic and are presumed to be affected with the attenuated disease variants.

KEY MESSAGE : Using map-based cloning of Tril gene, we identified a homeodomain-leucine zipper gene involved in the initiation of multicellular trichomes (including the spines of fruit) in cucumber. Fruit spines are a special type of trichome that impacts the quality and appearance of cucumber (Cucumis sativus L.) fruit. Scanning electron microscopy revealed that the trichome-less (tril) mutant originating from European greenhouse cucumber has a completely glabrous phenotype on cotyledons, hypocotyls, young leaves, fruits, and fruit stalks. Genetic analysis revealed that tril was inherited as a recessive allele at a single locus. Using 1058 F₂ individuals derived from a cross between cucumber tril mutant CGN19839 and the micro-trichome (mict) mutant 06-2, tril was mapped to chromosome 6, and narrowed down to a 37.4 kb genomic region which carries seven predicted genes. Genetic and molecular analyses revealed that gene Cucsa.045360 is a possible candidate gene for the differentiation of epidermal cells to trichomes. It is a member of the class IV homeodomain-leucine zipper (HD-Zip IV) family and encodes homeodomain and START domain, sharing 66.7 % predicted amino acid sequence identity to PROTODERMAL FACTOR2 (PDF2) and 35.0 % to GLABRA2 (GL2) of Arabidopsis. The homeobox domain had changed amino acid sequence because of an insertion in tril mutant. The results of genetic analysis and transcriptome profiling indicated that the Tril gene had an epistatic effect on the Mict gene in trichome development. Phenotypes of the tril mutant such as glabrous fruits and female flowers at every node could be used in developing new cultivars.

Objective Postoperative pneumonia (POP) frequently complicates cardiac surgery that involves cardiopulmonary bypass (CPB). This study aimed to assess the diagnostic utility of procalcitonin (PCT) for identifying pneumonia after CPB-assisted cardiac surgery. Methods Patients diagnosed with POP were enrolled in the retrospective matched case-control study and were admitted to a Grade III general hospital in Nanjing in 2023. POP diagnosis was determined based on a combination of clinical and microbiological criteria.PCT and white blood cell count (WBC) data were systematically collected from day 1 (T1) to day 5 (T5). Receiver operating characteristic (ROC) curve analysis and subject operating characteristics were utilized to evaluate the diagnostic performance of biomarkers. At the same time, a binary logistic regression model was developed to identify factors that influence the diagnosis of POP. Results The study included 220 age- and sex-matched patients, comprising 56 individuals with POP and 164 uninfected patients constituting the non-POP group. ROC curve analysis revealed that serum PCT concentration exhibited an AUC > 0.7 from day 2 to day 5, whereas other indices demonstrated AUCs < 0.7 at these time points. Univariate and multivariate analyses highlighted serum PCT concentration on day 2, WBC count on day 5, the PCTT4-T1 variation rate, and days of mechanical ventilation as significant predictive factors for POP diagnosis, each demonstrating statistical significance ( P  < 0.05). The calculated AUC was 0.837 (95%CI: 0.773–0.902). The absolute PCT value exhibited superior diagnostic performance relative to its variance rate and WBC count, yielding optimal diagnostic accuracy with a cutoff value of 3.45 ng/ml. Conclusion Serum PCT absolute value demonstrates higher sensitivity and specificity than other indices, offering superior diagnostic potential for predicting POP.

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. A total of 324 suspected infants, including 12 for MPS I, 223 for MPS II, 72 for MPS IVA, and 17 for MPS VI, who were referred for MPS confirmation from newborn screening centers in Taiwan, were enrolled. In all of these infants, one specific enzyme activity in dried blood spot filter paper was lower than the cut-off value in the first blood sample, as well asin a second follow-up sample. The confirmatory methods used in this study included Sanger sequencing, next-generation sequencing, leukocyte enzyme fluorometric assay, and GAG-derived disaccharides in urine using tandem mass spectrometry assays. The results showed that five, nine, and six infants had MPS I, II, and IVA, respectively, and all of them were asymptomatic. Thus, a laboratory diagnosis is extremely important to confirm the diagnosis of MPS. The other infants with identified nucleotide variations and reductions in leukocyte enzyme activities were categorized as being highly suspected cases requiring long-term and intensive follow-up examinations. In summary, the final confirmation of MPS depends on the most powerful biomarkers found in urine, i.e., the quantification of GAG-derived disaccharides including dermatan sulfate, heparan sulfate, and keratan sulfate, and analysis of genetic variants can help predict outcomes and guide treatment.

Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time.

Background Recent findings indicate that infants with spinal muscular atrophy (SMA) treated early through newborn screening (NBS) have better outcomes. This study aimed to investigate the long-term outcomes of a 5-year SMA NBS program in Taiwan. Results From September 2017 to August 2022, two NBS centers screened patients for SMN1 homozygous deletion using quantitative real-time polymerase chain reaction (RT-PCR) or the Sequenom MassARRAY platform and subsequently confirmed the findings using multiplex ligation-dependent probe amplification (MLPA). Implementation of SMA NBS using RT-PCR or MassARRAY platform efficiently led to the detection of neonates with homozygous survival motor neuron 1 ( SMN1 ) deletions at a median age of 9 (range 4–14) days. Among the 446,966 newborns screened, 22 were detected to have a homozygous deletion of SMN1, followed by MLPA confirmation. One patient initially showed negative screening results but was later confirmed to have a compound heterozygous mutation. Among the 23 confirmed cases, 8 patients had two SMN2 copies (all classified as SMA type 1), 11 patients had three SMN2 copies (including 4 with SMA type 1, 2 with SMA type 2, 3 with SMA type 3, and 2 asymptomatic cases), and 4 patients had four SMN2 copies (all asymptomatic). The mean (median) follow-up duration for 19 survivors was 4.2 (5.0) years. All patients with two SMN2 copies developed symptoms within 62 days; those with three SMN2 copies experienced disease onset within 1 year. After diagnosis, most patients were on a watch and wait to receive disease-modifying therapy (DMT) due to initial lack of insurance coverage and limitations on indications after coverage was granted. Of the 19 children who received DMT, the outcomes included 12 walkers, 1 walker requiring support, 3 sitters, 1 non-sitter, and 2 patients with SMA type 1b with two SMN2 copies who succumbed to acute respiratory failure. Conclusions This 5-year SMA NBS study using RT-PCR or the MassARRAY platform, along with an extended follow-up, demonstrates that early diagnosis and prompt treatment can enhance SMA clinical outcomes and change its natural progression in the therapeutic era. Infants with NBS who received presymptomatic DMT had better clinical outcomes than those who received symptomatic DMT.

Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team’s aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel. A total of 54,791 female infants were screened and 136 female newborns with the IVS4 + 919G > A mutation and one female newborn with the c.656T > C mutation were identified. Using the current enzyme-based newborn screening approach as baseline, around 83% of female newborns are being missed. Through a family study of the IVS4 female newborns, 30 IVS4 adult family members were found to have left ventricular hypertrophy. Ten patients received endomyocardial biopsy and all were found to have significant globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. All of these individuals now receive enzyme replacement therapy. We have demonstrated that the Agena iPLEX assay is a powerful tool for detecting females with Fabry disease. Furthermore, through this screening, we also have been able to identify many disease-onset adult family members who were originally undiagnosed for Fabry disease. This screening helps them to receive treatment in time before severe and irreversible cardiac damage has occurred.

An experimental system for observing the drop vaporization and microexplosion characteristics of emulsified droplets in high-temperature environments was conducted to analyze the effects of environmental temperature, droplet size, and water content on droplet behavior. In addition, emulsified low-sulfur heavy fuel oil (HFO) with a 20 vol% water content and pure low-sulfur HFO were used as fuels for burning in an industrial boiler under normal operating conditions. The results showed that by using an emulsified HFO with a 20 vol% water content, the boiler efficiency can be improved by 2%, and that a reduction of 35 ppm in NOx emissions (corresponding to a NOx reduction rate of 18%) can be achieved. These advantages are due to the occurrence of a microexplosion during the combustion of the emulsified droplets. It was observed that when emulsified HFO with a 20 vol% water content was used, the fuel (HFO) consumption rate was 252 l/h. On the other hand, the fuel consumption rate was 271 l/h when pure low-sulfur HFO was used. Therefore, a reduction of 19 l/h in the fuel (HFO) consumption rate was achieved when using the water-in-oil emulsion, corresponding to fuel savings of 7%.

A novel moderately halophilic bacterial strain, designated YIM 93176 T , was isolated from a saltern in Korea and subjected to a polyphasic taxonomic study. This isolate YIM 93176 T was observed to grow in the presence of 0–22% (w/v) NaCl and at pH 6.0–10.0 and 10–45 °C; optimum growth was observed with 5–10% (w/v) NaCl and at pH 7.0–9.0 and 28–37 °C. Based on 16S rRNA gene sequences analysis, the nearest relatives were Lentibacillus alimentarius M2024 T (96.5% similarity), followed by Virgibacillus carmonensis LMG 20964 T (96.0%) and the other type strains of the family Bacillaceae , but phylogenetic analysis indicated that strain YIM 93176 T belonged to the cluster comprising type species of the genus Lentibacillus . Genome sequencing of strain YIM 93176 T revealed a genome size of 3.2 Mb and a DNA G + C content of 40.5 mol%. The major fatty acids were anteiso-C 15:0 (40.7%) and iso-C 15:0 (26.4%), while the predominant respiratory quinone was menaquinone 7. The polar lipids consisted of diphosphatidylglycerol, phosphatidylglycerol and phosphatidylethanolamine. These genotypic and chemotaxonomic characteristics supported affiliation of strain YIM 93176 T to the genus Lentibacillus . In addition, phenotypic characteristics could distinguish strain YIM 93176 T from its closely related species in genus Lentibacillus . Based on the cumulative evidences from the polyphasic taxonomic study, strain YIM 93176 T represents a novel species of the genus Lentibacillus , for which name Lentibacillus saliphilus sp. nov. (type strain YIM 93176 T  = CCTCC AB 208139 T  = DSM 21375 T ) is proposed.