Clinical Considerations of Ehlers-Danlos Syndrome for Implant Dentistry: Two Case Reports.

Ehlers-Danlos Syndrome (EDS) is a group of congenital connective tissue disorders that commonly affect joints, muscles, soft tissue, and blood circulation in the affected population. Many oral manifestations are displayed in EDS patients that can include gingival recession, lack of attached gingiva, early severe periodontal disease, and dental caries. However, the literature is limited and oftentimes contradictory regarding dental implants in EDS patients. The aim of this study is to report two successful cases of implants placed in EDS patients, one treated with bone augmentation and both restored with prosthetic implant rehabilitations. Int J Periodontics Restorative Dent 2023;43:e81-e87. doi: 10.11607/prd.5842.

The Strategy to Use Sugammadex to Reduce Postoperative Pulmonary Complications after da Vinci Surgery: A Retrospective Study.

In 2000, the da Vinci Surgery System was approved by the United States Food and Drug Administration for general laparoscopic surgery and it became the first commercially available robotic surgery system. The aim of this study was to identify the incidence of postoperative pulmonary complications (PPCs) in patients undergoing da Vinci surgery and to observe whether the incidence of PPCs was affected by the usage of Sugammadex. Sugammadex is a gamma-cyclodextrin that encapsulates and subsequently inactivates steroidal neuromuscular blocking agents. A retrospective study was conducted on patients who had undergone da Vinci surgery in a single medical center in southern Taiwan during the period from January 2018 to December 2018. We extracted data on patient characteristics, usage of Sugammadex and PPCs for analysis. Three hundred and thirty-three patients were enrolled in the final analysis. While the overall incidence of PPCs was 30.3% (101/333 patients), the incidence of PCC in patients who received Sugammadex (24.2%) was significantly lower than those without (37.3%) (p = 0.001). Risk factors that appeared to be closely associated with PCC included age, malignancy, hypertension, chronic kidney disease, blood loss amount and anemia. The use of Sugammadex decreased the risk of PPC. In order to enhance early recovery after da Vinci surgery, the use of Sugammadex to rapidly reverse muscle relaxants may be an appropriate choice.

A Sextuple Knockout Cell Line System to Study the Differential Roles of CRY, PER, and NR1D in the Transcription-Translation Feedback Loop of the Circadian Clock.

The transcription-translation feedback loop (TTFL) is the core mechanism of the circadian rhythm. In mammalian cells, CLOCK-BMAL1 proteins activate the downstream genes by binding on the E-box sequence of the clock-controlled genes. Among these gene products, CRY1, CRY2, PER1, PER2, NR1D1, and NR1D2 can regulate the CLOCK-BMAL1-mediated transcription to form the feedback loop. However, the detailed mechanism of the TTFL is unclear because of the complicated inter-regulation of these proteins. Here, we generated a cell line lacking CRY1, CRY2, PER1, PER2, NR1D1, and NR1D2 (Cry/Per/Nr1d_KO) to study TTFL. We compared the Dbp transcription after serum-shock and dexamethasone-shock between Cry/Per/Nr1d_KO cells and cells expressing endogenous CRY (Per/Nr1d_KO) or NR1D (Cry/Per_KO). Furthermore, we found that CRY1-mediated repression of Dbp could persist more than 24 h in the absence of other proteins in the negative limb of the TTFL. Our Cry/Per/Nr1d_KO cells is a suitable system for the studying of differential roles of CRY, PER, and NR1D in the TTFL.

KIT Exon 11 Codons 557-558 Deletion Mutation Promotes Liver Metastasis Through the CXCL12/CXCR4 Axis in Gastrointestinal Stromal Tumors.

PURPOSE: KIT mutations, the most prevalent genetic event in gastrointestinal stromal tumors (GIST), are associated with malignant features and poor prognosis. Aggressive GISTs possess a high propensity to spread to the liver. This study aimed to explore the role of KIT mutations in GIST liver metastasis. EXPERIMENTAL DESIGN: A total of 170 GISTs were used to determine the association between KIT mutations and liver metastasis. Immunohistochemistry was performed to assess the correlation of KIT mutations with CXCR4 and ETV1 expression. Genetic and pharmacologic methods were used to study the regulation of CXCR4 and ETV1 by KIT mutations. RESULTS: Codons 557 and 558 in KIT exon 11 were deletion hot spots in GISTs. KIT exon 11 deletions involving codons 557-558 were highly associated with liver metastasis. Overexpression of mutant KIT with exon 11 codons 557-558 deletion (KIT Δ557-558) increased GIST cell motility and liver metastasis. Mechanistically, overexpression of KIT Δ557-558 in GIST cells increased ETV1 and CXCR4 expression. CXCR4 knockdown counteracted KIT Δ557-558-mediated cell migration. Moreover, KIT Δ557-558-induced CXCR4 expression could be abolished by silencing ETV1. The chromatin immunoprecipitation assay showed that ETV1 directly bound to the CXCR4 promoter. After ERK inhibitor PD325901 treatment, the upregulation of ETV1 by KIT Δ557-558 was prevented. In addition, KIT exon 11 codons 557-558 deletion enhanced CXCL12-mediated GIST cell migration and invasion. CONCLUSIONS: KIT exon 11 557-558 deletion upregulates CXCR4 through increased binding of ETV1 to the CXCR4 promoter in GIST cells, which thus promotes liver metastasis. These findings highlighted the potential therapeutic targets for metastatic GISTs. Clin Cancer Res; 22(14); 3477-87. ©2016 AACR.

A retrospective study of sodium hypochlorite pulpotomies in primary molars.

BACKGROUND/PURPOSE: Formocresol has been a popular pulpotomy medicament for primary molars, however, its toxicity and potential carcinogenicity leaves room for other alternatives such as sodium hypochlorite (NaOCl). The purpose of this study is to evaluate the clinical and radiographic success rate of 5% NaOCl pulpotomy in primary molars. MATERIALS AND METHODS: A retrospective research of patient records from January 1, 2009 and December 31, 2012 was conducted to evaluate the clinical and radiographic success rate of 5% NaOCl pulpotomy in primary molars. RESULTS: A total of 147 NaOCl primary molar pulpotomies in 52 patients were included in the study. Clinical success rates at 6 months, 12 months, and 24 months were 100%, 97%, and 97%, respectively. Radiographic success rates at 6 months, 12 months, and 24 months were 99%, 89%, and 77%, respectively. Internal root resorption was the most common radiographic pathologic finding. CONCLUSION: The clinical and radiographic success rate for NaOCl pulpotomies is comparable with formocresol and ferric sulfate pulpotomy success rates reported in previous studies.

Prenatal diagnosis of the maternal derivative chromosome der(15)t(Y;15)(q12;p13) in a dizygotic twin pregnancy.

Sex chromosome translocations are unique and must be considered separately from translocations between autosomes. Here, we describe the first prenatal case of one twin fetus with an unbalanced translocation between chromosome Y and chromosome 15, presenting a 46,XY,der(15)t(Y;15) karyotype. The other twin had a normal 46,XY karyotype. Cytogenetic analysis of the parental chromosomes revealed that the father had a normal 46,XY karyotype, whereas the mother exhibited a 46,XX,der(15) t(Y;15) karyotype. Thus, the proband inherited this translocation from the mother. Fluorescence in situ hybridization analyses demonstrated that the breakpoint on chromosome Y involved a heterochromatin region (Yq12), while that on chromosome 15 involved a p-arm region (15p13). At 37 gestational weeks, healthy twins were delivered vaginally. We conclude that accurate identification of der(15) chromosomal content can facilitate not only prenatal diagnosis of a chromosomal aberration in one twin, but also prediction of the fetal phenotype.

Discrepancy of cytogenetic analysis in Western and eastern Taiwan.

OBJECTIVE: This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies. METHODS: From 2004 to 2009, pregnant women who underwent amniocentesis in their second trimester at three hospitals in western Taiwan and at four hospitals in eastern Taiwan were included. All the cytogenetic analyses of cultured amniocytes were performed in the cytogenetics laboratory of the Genetic Counseling Center of Hualien Buddhist Tzu Chi General Hospital. We used the chi-square test, Student t test, and Mann-Whitney U test to evaluate the variants of clinical indications, amniocyte karyotyping results, and prevalence and types of chromosomal anomalies in western and eastern Taiwan. RESULTS: During the study period, 3573 samples, 1990 (55.7%) from western Taiwan and 1583 (44.3%) from eastern Taiwan, were collected and analyzed. The main indication for amniocyte karyotyping was advanced maternal age (69.0% in western Taiwan, 67.1% in eastern Taiwan). The detection rates of chromosomal anomalies by amniocyte karyotyping in eastern Taiwan (45/1582, 2.8%) did not differ significantly from that in western Taiwan (42/1989, 2.1%) (p = 1.58). Mothers who had abnormal ultrasound findings and histories of familial hereditary diseases or chromosomal anomalies had higher detection rates of chromosomal anomalies (9.3% and 7.2%, respectively). The detection rate of autosomal anomalies was higher in eastern Taiwan (93.3% vs. 78.6%, p = 0.046), but the detection rate of sex-linked chromosomal anomalies was higher in western Taiwan (21.4% vs. 6.7%, p = 0.046). CONCLUSION: We demonstrated regional differences in second-trimester amniocyte karyotyping results and established a database of common chromosomal anomalies that could be useful for genetic counseling, especially in eastern Taiwan.

Effects of light availability on the biomass production, CO2 fixation, and bioethanol production potential of Thermosynechococcus CL-1.

A thermophilic cyanobacterium named Thermosynechococcus CL-1 (TCL-1) was cultivated in this study to eliminate the energy input of cooling system in flat plate photobioreactors. Cultivating TCL-1 in the 1.5 cm light path flat plate photobioreactor exhibited stable characteristics for biomass production, CO2 fixation, and carbohydrate production under high illumination conditions (1000 or 2000 µE m(-2) s(-1)). The greatest biomass and carbohydrate productivity, and CO2 fixation rate were recorded at 116, 67, and 170 mg/L/h, respectively, in the 1.5c m light path photobioreactor and under optimal biomass concentration (about 3 g/L). Cultivating Thermosynechococcus CL-1 in flat plate photobioreactors exhibits high potential for biomass production, CO2 fixation and bioethanol production.

Evolutional change of karyotype with t(8;9)(p22;p24) and HLA-DR immunophenotype in relapsed acute myeloid leukemia.

The rare recurrent translocation of (8;9)(p22;p24) with PCM1-JAK2 fusion was recently characterized in diverse hematological malignancies. Most of them are atypical chronic myeloid leukemia (CML) or other myeloproliferative disorders (MPD), and are predominantly in the male. We report a female patient with acute myeloid leukemia (AML) initially presenting with normal karyotype and negative HLA-DR expression who achieved complete remission after standard chemotherapy. The disease relapsed 7 months later with cytogenetic change of t(8;9)(p22;p24). Flow cytometry analysis showed evolutional change of immunophenotype from negative to positive HLA-DR expression and fluorescence in situ hybridization (FISH) analysis demonstrated a PCM1-JAK2 fusion gene. We speculate that the cytogenetic change of t(8;9)(p22;p24) may induce HLA-DR immunophenotypic switch and a coordination of the two evolutional changes may play a role in leukemic cell progression.

Analysis of earthy and musty odors in water samples by solid-phase microextraction coupled with gas chromatography/ion trap mass spectrometry.

A method for the determination of the earthy and musty odors geosmin, 2-methylisoborneol (2-MIB), 2-isobutyl-3-methoxy pyrazine (IBMP), 2-isopropyl-3-methoxy pyrazine (IPMP) and 2,4,6-trichloroanisole (2,4,6-TCA) in water by headspace solid-phase microextraction (HSSPME) combined with gas chromatography-ion trap mass spectrometry (GC-ITMS) is described. Several parameters of the extraction and desorption procedure were studied and optimized (such as types of fibers, extraction temperature, extraction time, desorption temperature, desorption time, ionic strength and elutropic strength and pH of samples). The method shows good linearity over the concentration range 1-500ngl(-1) and gives detection limits of sub-part per trillion levels for all compounds. Good precision (5.9-9.8%) is obtained using IBMP as internal standard. Finally, the method was successfully applied to analyze earthy and musty odors in tap water and lake water.

Analysis of the saliva from patients with oral cancer by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Using matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS), this study analyzed the saliva obtained from patients with oral cancer and compared these mass spectra with those obtained from healthy controls. Saliva without pre-treatment was mixed directly with a sinapinic acid matrix. Alpha-amylase (57 kDa) dominated the high mass range in the MALDI mass spectra of the saliva from healthy subjects, but the peak was suppressed for patients with oral cancer and was replaced by a peak at m/z 66 k in the spectra of patients' samples (15 out of 20). Sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) with in-gel tryptic digestion combined with matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) was employed to characterize this 66-kDa protein, which was thus shown to be albumin. However, based on SDS-PAGE results, concentrations of both alpha-amylase and albumin in patients' saliva were significantly higher than those in healthy subjects. This discrepancy was shown to be due to MALDI suppression effects due to the albumin. MALDI-MS thus has potential as a possible rapid diagnostic screening tool for oral cancer.