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We examined the seroprevalence change of anti‐hepatitis D virus (HDV) antibodies in Taiwan from 2006 to 2019. A total of 1147 patients who had chronic hepatitis B virus (HBV) infection were assessed. Of them, 51 (4.4%) were positive for anti‐HDV antibodies. Comparison between anti‐HDV‐positive and negative groups was performed to examine clinical and virological factors related to anti‐HDV positivity. It was found that the median HBV‐DNA concentration was 1.6 × 105 IU/mL (range, <20‐4.5 × 1010 IU/mL) and <20 IU/mL (range, <20‐2.0 × 109 IU/mL) for patients with negative and positive anti‐HDV antibodies, respectively (P < .001). In addition, a progressive year‐to‐year decrease of anti‐HDV seroprevalence was unveiled. For patients who had HBV‐DNA >15 000 IU/mL, the year‐to‐year (calculated every 2 years) seropositive rates of anti‐HDV were 10.0%, 7.9%, 0.7%, 0.3%, 0%, 0%, and 0% (P < .001). For patients who had HBV‐DNA <15 000 IU/mL, the year‐to‐year seropositive rates were 18.6%, 12.8%, 7.8%, 5.0%, 7.3%, 8.0%, and 3.7% (P < .001). In conclusion, seropositive of anti‐HDV was inversely associated with HBV‐DNA levels. A progressive decrease of anti‐HDV seroprevalence was found with no anti‐HDV‐positive cases detected in high HBV‐DNA patient group after 2014. Highlight: Seroprevalence of anti‐HDV is decreasing in Taiwan.From 2006‐2019, 4.4% of chronic hepatitis B patients were anti‐HDV positive.Seroprevalence of anti‐HDV is inversely correlated with HBV‐DNA levels.No anti‐HDV‐positive cases were found after 2014 in high HBV DNA patients. [ABSTRACT FROM AUTHOR]

Approximately, 25% of nasopharyngeal carcinoma (NPC) patients develop recurrent disease. NPC may involve relatively few genomic alterations compared to other cancers due to its association with Epstein‐Barr virus (EBV). We envisioned that in‐depth sequencing of tumor tissues might provide new insights into the genetic alterations of this cancer. Thirty‐three NPC paired tumor/adjacent normal or peripheral blood mononuclear cell samples were deep‐sequenced (>1000×) with respect to a panel of 409 cancer‐related genes. Newly identified mutations and its correlation with clinical outcomes were evaluated. Profiling of somatic mutations and copy number variations (CNV) in NPC tumors identified alterations in RTK/RAS/PI3K, NOTCH, DNA repair, chromatin remodeling, cell cycle, NF‐κB, and TGF‐β pathways. In addition, patients harbored CNV among 409 cancer‐related genes and missense mutations in TGF‐β/SMAD signaling were associated with poor overall survival and poor recurrence‐free survival, respectively. The CNV events were correlated with plasma EBV copies, while mutations in TGFBR2 and SMAD4 abrogate SMAD‐dependent TGF‐β signaling. Functional analysis revealed that the new TGFBR2 kinase domain mutants were incapable of transducing the signal, leading to failure of phosphorylation of SMAD2/3 and activation of downstream TGF‐β‐mediated cell growth arrest. This study provides evidence supporting CNV and dysregulated TGF‐β signaling contributes to exacerbating the NPC pathogenesis. [ABSTRACT FROM AUTHOR]

Prader–Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Children (WeeFIM) was used to evaluate 81 children with PWS (44 boys and 37 girls) with a median age of 11 years 1 month (range 2 years 8 months to 20 years 2 months) were recruited between January 2013 and December 2016. The mean total WeeFIM score was 103.8 (maximum 126). Sixty‐five patients (80%) had deletion type PWS, 16 (20.0%) had nondeletion type. The scores were 103.6 ± 18.5 for deletion and 104.8 ± 18.3 for nondeletion type (p = .405), 104.8 ± 19.3 in boys and 102.6 ± 17.3 in girls (p = .293). The mean self‐care, mobility, and cognition scores were 47 (maximum 56), 33 (maximum 35), and 24 (maximum 35), respectively. All total scores and 18 subscores in the three functional domains were positively correlated with age (p < .05). Most children required assistance in problem‐solving, comprehension, and expression. The WeeFIM identified the strengths and limitations of children with PWS and confirmed that support and supervision were needed in cognitive and self‐care tasks. [ABSTRACT FROM AUTHOR]

A chronic lymphocytic leukemia patient had achieved complete virological suppression of hepatitis B virus (HBV) by oral antiviral therapy. Unexpectedly, fulminant hepatitis D virus (HDV) reactivation occurred, resulting in mortality. Cloning and sequence analysis identified a novel large fragment HDV deletion mutant containing only 69% of the standard genome. Reverse transcription-PCR assay revealed persistence of this mutant with variations of the wild-type-to-mutant ratios during the clinical course. Serum samples from 405 patients with chronic hepatitis B were then submitted for HDV RNA analysis. Of them, 20 (4.9%) were positive for HDV RNA and 5 HDV RNA large fragment deletions were identified in three patients, all under entecavir treatment. Two of them suffered from acute hepatitis exacerbations leading to liver failure while the third had repeated hepatitis flares. The peak bilirubin levels in these three patients were significantly higher than the others without large fragment deletions ( P = 0.003). The deleted regions (527-702 bases) encompassed two ribozyme domains as well as part of the hepatitis D antigen (HDAg) reading frame. In conclusion, exacerbations of hepatitis D could occur, leading to fulminant hepatitis, even after complete virological suppression of HBV. Large fragment HDV RNA deletions were identified in some hepatitis D patients who were treated with entecavir but still experiencing severe hepatitis. J. Med. Virol. 87:634-641, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

We investigated the major determinant of hyperphosphatemia incidence among patients receiving peritoneal dialysis. Seventy-six patients aged 25-55 years who had received peritoneal dialysis for more than 3 months were recruited. The patients were divided into three groups according to their serum phosphorus levels (Group 1, ≥6 mg/dL; Group 2, 5.9-4.8 mg/dL; and Group 3, <4.8 mg/dL). Renal dietitians interviewed the patients to determine their phosphate intake and adherence to phosphate binder therapy. No statistical differences in demographics or phosphate intake were identified among the groups. However, adherence to phosphate binders was greater in Group 3 than in Groups 1 and 2 (96.3% vs. 21.4% and 52.4%, respectively; P < 0.001). Multivariate analysis showed that adherence to phosphate binder therapy was the only significant contributor to serum phosphorus levels ( P= 0.0001). Adherence to diet was better than adherence to phosphate binder therapy among patients receiving peritoneal dialysis, and the latter determined the incidence of hyperphosphatemia. [ABSTRACT FROM AUTHOR]

Chromosome 10p terminal deletion accounts for a rare subset among patients presenting with DiGeorge syndrome, and is designated as DiGeorge 2 syndrome. We report a neonate with DiGeorge-like phenotype having a deletion of distal 10p (p13-pter) and a duplication of terminal 3q (q29-qter) derived from paternal balanced translocation between 3q29 and 10p13. She had facial dysmorphism, atrial and ventricular septal defect, impaired T-cell function, hypoparathyroidism, sensorineural hearing loss, renal abnormalities and developmental delay. Her phenotype corresponded well with the typical characteristics of partial monosomy 10p and the small duplication of terminal 3q did not involve the critical region of 3q duplication syndrome. Clinically, hypoparathyroidism-related hypocalcemia lasted for three weeks and resulted in repeated episodes of heart failure. It was not until the calcium level was normalized that her heart failure improved markedly. Conclusion: Cytogenetic analysis can help to recognize patients early on who have terminal 10p deletion when microdeletion of 22q11.2 is not the cause of DiGeorge syndrome. Hypoparathyroidism-related hypocalcemia impacts heart failure control in partial monosomy 10p and should be managed aggressively on critical care. [ABSTRACT FROM AUTHOR]

An HPLC-PAD-MS n method was employed to profile the phenolic compounds of the aerial part of Artemisia pectinata ( Neopallasia pectinata), a plant with no previous reports concerning its phenolic constituents. Three isomers of trans-caffeoylquinic acid accompanied by cis-5-caffeoylquinic acid, six isomers of trans-dicaffeoylquinic acid, two isomers of methyl trans-dicaffeoylquinate (including one new isomer), a trans-caffeoylferuloylquinic acid and three flavanoids were identified unambiguously by analysis of their UV and MS n spectra in comparison with standard compounds that were isolated from natural sources, or synthesised, or were surrogate standards (green coffee extract). Other compounds were identified by analysis of their UV and MS n data in comparison with those reported in the literature. MS n experiments also suggested the presence of groups of dicaffeoylquinic acid glycosides, caffeoylquinic acid diglycosides, caffeoylquinic acid glycosides and quinic acid diglycosides. Copyright © 2007 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

A simple HPLC-PAD-MS method was established to quantitatively analyse two spiroether isomers ( cis-en-yn-dicycloether and trans-en-yn-dicycloether) and the main coumarin, herniarin, in chamomile herbs, simultaneously. By using this method, the contents of these three compounds in the flowers of two chamomile species, Roman chamomile ( Chamaemelum nobile) and pineapple weed ( Matricaria matricarioides), as well as in different parts of pineapple weed, were investigated. It was found that the flowers of both herbs contained large amounts of cis-en-yn-dicycloether and trans-en-yn-dicycloether, with the trans-form being more abundant than the cis-form. The leaves of pineapple weed were found to have the highest concentration of cis-en-yn-dicycloether and herniarin than the other parts. HPLC-PAD-MS-guided isolation and identification of other constituents are also discussed. Copyright © 2006 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Antrodia cinnamomea is a highly valued folk medicine used for liver cancer, a disease often caused by the long term infection of hepatitis C virus (HCV). In the present study, the maleic and succinic acid constituents (antrodins A-E) of this medicinal fungus, the in vivo metabolites of antrodin C and the analogue of one of the metabolites were tested for their inhibitory activity on HCV protease. Most of the compounds showed potent inhibitory activity, with antrodin A being the most potent (IC50 = 0.9 µg/mL). Antrodin A was isolated as one of the constituents of A. cinnamomea and was also detected as an in vivo metabolite of the major constituent antrodin C. The mode of inhibition for antrodin A on HCV protease was revealed by a Lineweaver-Burk plot as competitive inhibition. These results strongly support the use of this folk medicine for liver cancer and HCV infection which is a global problem. Copyright © 2008 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Background: Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods: We used the Functional Independence Measure for Children (WeeFIM) questionnaire to assess the functional skills of 63 Taiwanese MPS patients (median age, 13 years 3 months; range, 3–20 years) from January 2012 to December 2018. Results: Mean total WeeFIM score was 75.4 of a potential score of 126. Mean total WeeFIM scores of each type (MPS I, MPS II, MPS IIIB, MPS IVA, and MPS VI) were 103.8, 76.2, 41.6, 92.2, and 113.6, respectively. Mean scores for self‐care, mobility, and cognition domains were 30 (maximum 56), 23 (maximum 35), and 22 (maximum 35), respectively. MPS type IIIB patients had the lowest scores in self‐care, mobility, cognition, and total domains compared to other types of MPS. All patients with ERT in MPS I, II, and IVA had higher scores in self‐care and mobility domains than patients without ERT. Most patients required assistance for self‐care skills, especially in grooming and bathing. Conclusion: MPS patients require support and supervision in self‐care tasks. For cognition tasks, MPS IIIB patients also require help. This questionnaire is useful to identify the strengths and limitations of MPS patients. [ABSTRACT FROM AUTHOR]

Previous studies on the incidence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences of different types of MPS during the period of 1984-2004 were estimated. We compared our data with previous reports in different populations. The combined birth incidence for all MPS cases was 2.04 per 100,000 live births. MPS II (Hunter syndrome) had the highest calculated birth incidence of 1.07 per 100,000 live births (2.05 per 100,000 male live births), comprising 52% of all MPS cases diagnosed. The birth incidences of MPS I (Hurler syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), and VI (Maroteaux-Lamy syndrome) were 0.11, 0.39, 0.33, and 0.14 per 100,000 live births, respectively, which accounted for 6%, 19%, 16%, and 7% of all MPS, respectively. No cases of MPS III D (Sanfilippo syndrome type D), MPS IV B (Morquio syndrome type B), MPS VII (Sly syndrome) or MPS IX were ascertained during the study period. Overall incidence of MPS in Taiwan was consistent with that reported in Western populations. However, in contrast to the higher incidence of MPS I in most Western populations, this study showed a higher incidence of MPS II in Taiwan. It remains to be investigated whether this discrepancy is attributed to the under-diagnosis of MPS I in Taiwan or to ethnic differences.

Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS)., Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental disomy (UPD)., Results: Deletion was present in 56 (84%), UPD in 10 (15%), and a probable imprinting centre deletion or imprinting defect in 1 (1%). PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. No other clinical features differed significantly different between the two groups., Conclusion: In contrast to most Western populations with a higher incidence of UPD, this study of PWS in Taiwan shows a higher incidence of deletion. There may be subtle phenotypic differences between the UPD and deletion genotypes, but its not clear that these are important clinically.

The t(1;22)(p13;q13) is a nonrandom chromosomal abnormality in acute leukemia with the fusion oncogene, RBM15-MKL1 (OTT-MAL), identified recently. However, this abnormality has been described only in infants and young children with acute megakaryoblastic leukemia (AMKL). We report a 59-year-old male patient with the diagnosis of acute myeloid leukemia, subtype M1, who harbors an abnormal chromosome +der(1)t(1;22)(p13;q13). The RBM15-MKL1 (OTT-MAL) fusion transcript was also confirmed by the reverse transcriptase-polymerase chain reaction. This unusual abnormality is rare in adult cases of leukemia, and in children it is restricted to AMKL. This report is accompanied by a review of the literature on the t(1;22)(p13;q13)., (2005 Wiley-Liss, Inc.)

If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementing such a screening program in Taiwan, due to the lower carrier rate found in our pilot study. To reliably estimate the prevalence of mutant FMR1 gene in Taiwan, we anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction (PCR). Among them, the sample from one boy, who was most likely had FXS, failed repeatedly in PCR amplification. The estimated prevalence of premutation (55-200 CGG repeats) and intermediate alleles (45-54 CGG repeats) was 1:1,674 (n = 6) and 1:143 (n = 70), respectively. All these estimates were constantly lower than that reported in Caucasian populations, with variable statistic significance. Furthermore, when comparing analyses of the distribution of alleles at the two most often investigated microsatellite loci, DXS548 and FRAXAC1, between 100 control and 28 unrelated fragile X chromosomes, we found no apparent founder haplotype prevalent among the fragile X patients. Because a few founder haplotypes were reportedly prevalent in two thirds of fragile X alleles in Caucasians and in Chinese from Central China, we thus suggested that lack of founder fragile X chromosomes might result in a relatively low prevalence of mutant FMR1 gene in a population, as observed in Taiwan., ((c) 2005 Wiley-Liss, Inc.)