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Giuseppa Graceffa,Salvatore Vieni,Manfredi Magliulo,Iole Laise,Mario Latteri,Calogero Cipolla 대한갑상선-내분비외과학회 2020 The Koreran journal of Endocrine Surgery Vol.20 No.2
Purpose: Intraoperative neuromonitoring (IONM) of the recurrent laryngeal nerve (RLN) is a useful technique that can be applied to assess the nerve functionality at the end of the first side lobectomy in a planned total resection to prevent the bilateral injury of the RLN. Here we describe the process of informed consent of patients, who were subjected to a 2-stage thyroidectomy, and its effect on the patients willingness to be operated on as well as their consent rates. Methods: A retrospective observational study of patients, undergoing thyroidectomy with standardized IONM, was conducted from January 2019 to December 2019. All patients were preoperatively informed about the possibility of undergoing a 2-stage thyroidectomy. The outcome of this information was evaluated through a specific questionnaire that the patients were asked to fill in. Results: Eighty patients were initially included in the analysis. The treatment was discontinued in 8 patients, who were originally eligible to total thyroidectomy, due to the detection of a loss of signal in the electromyography. The analysis of the results of the questionnaires highlighted a high compliance of the patients with the expectation of a possible new intervention. Conclusion: Two-stage thyroidectomy proved to be a reliable surgical approach and appeared to be largely accepted by the patients.
Giuseppa Scandurra,Giuseppe Scibilia,Giuseppe Luigi Banna,Gabriella D’Agate,Helga Lipari,Stefania Gieri,Paolo Scollo 대한부인종양학회 2015 Journal of Gynecologic Oncology Vol.26 No.2
Objective: To evaluate the efficacy and tolerability of a neoadjuvant paclitaxel, ifosfamide, and cisplatin chemotherapy inpatients with locally advanced cervical carcinoma. Methods: Patients with histologically confirmed locally advanced cervical carcinoma, aged ≥18 years, were treated withintravenous ifosfamide 5,000 mg/m2 and mesna 5,000 mg/m2, on day 1; intravenous paclitaxel 175 mg/m2 and cisplatin 75 mg/m2, on day 2; every 3 weeks for three cycles. Following chemotherapy, operable patients underwent radical hysterectomy andpelvic lymphadenectomy, and, if necessary, adjuvant radiotherapy. Results: One hundred fifty-two patients with median age 53 years (range, 24 to 79 years), FIGO stage IIB in 126 (89%), weretreated with chemotherapy for median 3 cycles (range, 1 to 3). Treatment was delayed or withdrawn in 23 patients (15%). Onehundred thirty-nine patients (91%) underwent surgery. Postchemotherapy pathological complete response rate was 18% (25patients). Postoperative radiotherapy was administered in 100 patients (72%). The 5-year overall survival and progression-freesurvival were 87.3% (95% confidence interval [CI], 84.5 to 90.3) and 76.4% (95% CI, 73.5 to 79.5), respectively. Conclusion: Neoadjuvant paclitaxel, ifosfamide, and cisplatin chemotherapy was feasible and effective in the treatment oflocally advanced cervical carcinoma patients with older age and more advanced disease stage than reported in previous studies. Hematological and renal toxicity could be carefully prevented.
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
Francesco Calì,Giuseppa Ruggeri,Mirella Vinci,Concetta Meli,Carla Carducci,Vincenzo Leuzzi,Simone Pozzessere,Pietro Schinocca,Alda Ragalmuto,Valeria Chiavetta,Salvatore Miccichè,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.2
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH)alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation-dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8(systematic name c.353-?_912 + ?del) and exon 6(systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics.
Francesco Calì,Alda Ragalmuto,Valeria Chiavetta,Giuseppe Calabrese,Marco Fichera,Mirella Vinci,Giuseppa Ruggeri,Pietro Schinocca,Maurizio Sturnio,Salvatore Romano,IRCCS Oasi Maria SS,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However,some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.
Signal Integration by the IκB Protein Pickle Shapes <i>Drosophila</i> Innate Host Defense
Morris, Otto,Liu, Xi,Domingues, Celia,Runchel, Christopher,Chai, Andrea,Basith, Shaherin,Tenev, Tencho,Chen, Haiyang,Choi, Sangdun,Pennetta, Giuseppa,Buchon, Nicolas,Meier, Pascal Cell Press 2016 Cell host & microbe Vol.20 No.3
<▼1><P><B>Summary</B></P><P>Pattern recognition receptors are activated following infection and trigger transcriptional programs important for host defense. Tight regulation of NF-κB activation is critical to avoid detrimental and misbalanced responses. We describe Pickle, a <I>Drosophila</I> nuclear IκB that integrates signaling inputs from both the Imd and Toll pathways by skewing the transcriptional output of the NF-κB dimer repertoire. Pickle interacts with the NF-κB protein Relish and the histone deacetylase dHDAC1, selectively repressing Relish homodimers while leaving other NF-κB dimer combinations unscathed. Pickle’s ability to selectively inhibit Relish homodimer activity contributes to proper host immunity and organismal health. Although loss of <I>pickle</I> results in hyper-induction of Relish target genes and improved host resistance to pathogenic bacteria in the short term, chronic inactivation of <I>pickle</I> causes loss of immune tolerance and shortened lifespan. Pickle therefore allows balanced immune responses that protect from pathogenic microbes while permitting the establishment of beneficial commensal host-microbe relationships.</P></▼1><▼2><P><B>Highlights</B></P><P>•<P>Pickle selectively inhibits NF-κB target genes that are driven by Relish homodimers</P>•<P>Pickle is a nuclear member of the IκB protein family</P>•<P>Loss of <I>pickle</I> causes hyper-activation of Relish-dependent target genes</P>•<P>Loss of <I>pickle</I> enhances host resistance to bacteria but compromises lifespan</P></P></▼2><▼3><P>Tight regulation of NF-κB signaling is critical to avoid detrimental and misbalanced responses. Morris et al. identify an IκB protein in <I>Drosophila</I> that inhibits a selective subset of the NF-κB dimer repertoire, thereby ensuring an appropriate immune response to pathogens while preventing tissue damage and reduced lifespan.</P></▼3>
Cali, Francesco,Ragalmuto, Alda,Chiavetta, Valeria,Calabrese, Giuseppe,Fichera, Marco,Vinci, Mirella,Ruggeri, Giuseppa,Schinocca, Pietro,Sturnio, Maurizio,Romano, Salvatore,Romano, Valentino,Elia, Mau Korean Society for Biochemistry and Molecular Bion 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.