cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5127001
title: Supplementary Material for: Augmentation of Antipsychotics with Electroconvulsive Therapy in Treatment-Resistant Schizophrenia Patients with Dominant Negative Symptoms: A Pilot Study of Effectiveness

description: <b><i>Objectives:</i></b> The aim of the study was to determine the effectiveness of the augmentation of antipsychotics (AP) with electroconvulsive therapy (ECT) in treatment-resistant schizophrenia (TRS) patients with dominant negative symptoms. <b><i>Methods:</i></b> The study encompassed 34 patients aged 21-55 years, 47.1% of whom were female, who were diagnosed with TRS. Each patient underwent a course of ECT sessions combined with AP medications which had previously been found to be ineffective. Prior to ECT and within 3 days after the final ECT session, the participants were evaluated on the Positive and Negative Syndrome Scale (PANSS), the Calgary Depression Scale for Schizophrenia and the Clinical Global Impression scales. <b><i>Results:</i></b> Augmentation of AP therapy with ECT led to a significant decrease in symptom severity in TRS patients with dominant negative symptoms, 58.8% of whom demonstrated at least a 25% decrease in the total PANSS score. The greatest reductions were observed in the general and positive PANSS subscales (mean ± SD: 11.35 ± 7.43 and 6.79 ± 5.23 patients), and the least significant in the negative symptoms subscale (5.03 ± 4.36 patients). <b><i>Conclusion:</i></b> Augmentation of AP therapy with ECT in a group of TRS patients with dominant negative symptoms induced a significant decrease in symptom severity. The greatest reductions were obtained in general and positive symptoms and the least in negative symptoms.
DOI: 10.6084/m9.figshare.5127007.v1
title: Supplementary Material for: Novel <b><i>TECTA </i></b>Mutations Identified in Stable Sensorineural Hearing Loss and Their Clinical Implications

description: <i>TECTA</i> is a causative gene of autosomal dominant (DFNA8/A12) and autosomal recessive (DFNB 21) nonsyndromic sensorineural hearing loss (NSHL). Mutations in <i>TECTA</i> account for 4% of all autosomal dominant NSHL cases in some populations and are thus thought to be one of the major causes of autosomal dominant NSHL. A genotype-phenotype correlation for autosomal dominant mutations in the <i>TECTA</i> gene has been proposed. Two families (SB146 and SB149), which segregated moderate NSHL in an autosomal dominant fashion, were included in this study. We performed targeted resequencing of 134 known deafness genes (TRS-134) and bioinformatics analyses to find causative mutations for NSHL in these 2 families. Through TRS-134, we detected 2 novel mutations, i.e. c.3995G&gt;T (p.C1332F) and c.5618C&gt;T (p.T1873I), in the <i>TECTA </i>gene. These mutations cosegregated with NSHL in the studied families and were not detected in normal controls. The mutations c.3995G&gt;T and c.5618C&gt;T reside in the von Willebrand factor type D3-D4 (vWFD3-D4) interdomain of the zonadhesin (ZA) domain and the zona pellucida (ZP) domain, respectively. p.C1332F is the first mutation detected in the vWFD3-D4 interdomain of the ZA domain. The mutations p.C1332F and p.T1873I were associated with stable high-frequency and mid-frequency hearing loss, respectively. Notably, the cysteine residue mutated to phenylalanine in SB146 was not related to progression of sensorineural hearing loss, which argues against the previous hypothesis. Here we confirm a known genotype-phenotype correlation for the ZP domain and propose a hypothetical genotype-phenotype correlation which relates mutations in vWFD3-D4 to stable high-frequency NSHL in Koreans. This clinical feature makes subjects with the missense mutation in the vWFD3-D4 interdomain of <i>TECTA</i> potentially good candidates for middle ear implantation. i 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5127010.v1
title: Supplementary Material for: Fetuin A/Nutritional Status Predicts Cardiovascular Outcomes and Survival in Hemodialysis Patients

description: <b><i>Background:</i></b> Fetuin A - a predictor of cardiovascular (CV) outcomes in dialysis patients - is correlated with over-nutrition in the general population. Whether fetuin A and nutritional status interact with each other to alter CV outcomes and survival in hemodialysis (HD) patients remains unknown. <b><i>Methods:</i></b> We performed a prospective study on 388 prevalent HD patients. We used the geriatric nutritional risk index (GNRI) for the evaluation of nutritional status. Study outcomes included the occurrence of CV event, CV death, and all-cause mortality during follow-up; interactions between parameters for predicting outcomes were assessed by the interaction terms in a Cox regression model. <b><i>Results:</i></b> Overall, 131 patients experienced CV events and 92 patients died, with 51 CV deaths. HD patients with higher fetuin A levels had lower numbers of CV events (adjusted hazard ratio [HR], 0.9; 0.81-0.99) and all-cause mortality (adjusted HR, 0.97; 0.91-0.99). However, patients with higher GNRI had lower all-cause mortality (adjusted HR, 0.79; 0.51-0.98, for every 10-unit increase). Fetuin A levels and GNRI showed a significant interaction in the prediction of CV events (adjusted HR, 1.01; 1.008-1.02) but not for all-cause or CV mortality. In patients with poor nutritional status, higher fetuin A levels were associated with fewer CV events; however, in contrast, in subjects with better nutritional status, higher fetuin A levels appeared to lead to a higher number of CV events. <b><i>Conclusions:</i></b> Fetuin A showed a remarkable interaction with nutritional status in evaluating the risks of CV morbidities in prevalent HD patients.
DOI: 10.6084/m9.figshare.5127001.v1
title: Supplementary Material for: Augmentation of Antipsychotics with Electroconvulsive Therapy in Treatment-Resistant Schizophrenia Patients with Dominant Negative Symptoms: A Pilot Study of Effectiveness

description: <b><i>Objectives:</i></b> The aim of the study was to determine the effectiveness of the augmentation of antipsychotics (AP) with electroconvulsive therapy (ECT) in treatment-resistant schizophrenia (TRS) patients with dominant negative symptoms. <b><i>Methods:</i></b> The study encompassed 34 patients aged 21-55 years, 47.1% of whom were female, who were diagnosed with TRS. Each patient underwent a course of ECT sessions combined with AP medications which had previously been found to be ineffective. Prior to ECT and within 3 days after the final ECT session, the participants were evaluated on the Positive and Negative Syndrome Scale (PANSS), the Calgary Depression Scale for Schizophrenia and the Clinical Global Impression scales. <b><i>Results:</i></b> Augmentation of AP therapy with ECT led to a significant decrease in symptom severity in TRS patients with dominant negative symptoms, 58.8% of whom demonstrated at least a 25% decrease in the total PANSS score. The greatest reductions were observed in the general and positive PANSS subscales (mean ± SD: 11.35 ± 7.43 and 6.79 ± 5.23 patients), and the least significant in the negative symptoms subscale (5.03 ± 4.36 patients). <b><i>Conclusion:</i></b> Augmentation of AP therapy with ECT in a group of TRS patients with dominant negative symptoms induced a significant decrease in symptom severity. The greatest reductions were obtained in general and positive symptoms and the least in negative symptoms.
DOI: 10.6084/m9.figshare.5127004.v1
title: Supplementary Material for: Changes in Dental Plaque Microbial Richness and Oral Behavioral Habits during Caries Development in Young Chinese Children

description: <b><i>Objective:</i></b> To detect changes in the microbial richness of dental plaque and oral behaviors during caries development in young Chinese children. <b><i>Methods:</i></b> Supragingival plaque samples and a survey of oral behaviors of 130 children aged 3 at baseline were analyzed at 6 months and 12 months. Total DNA was isolated from all samples and PCR-denaturing gradient gel electrophoresis analysis was conducted. <b><i>Results:</i></b> In the follow-up, 44 children had caries or cavity fillings at 6 months, a further 28 children had caries or cavity fillings at 12 months. The other 58 children remained caries-free at 12 months. According to the changes in caries status at the 12-month follow-up, all participants were divided into three groups: caries-free, caries at 6 months and caries at 12 months. The changes in oral behaviors during the 12-month follow-up were not significantly different in the three groups. The frequency of eating sweets and eating sweets before sleeping was significantly different among the three groups at baseline. At baseline, the average detectable bands of caries in the 12-month caries group were similar to those of the caries-free group; both of them were higher than that of the 6-month caries group. At 6 months, the average detectable bands of the 12-month caries group were significantly lower than that of the caries-free group although the children of the 12-month caries group were caries-free at that time. <b><i>Conclusions:</i></b> For young Chinese children, the high frequency of eating sweets and eating sweets before sleeping are risk factors of caries onset, and the decrease in microbial richness could occur 6 months before the onset of caries.
DOI: 10.6084/m9.figshare.5126992
title: Supplementary Material for: Outcomes of Infected Cardiovascular Implantable Devices in Dialysis Patients

description: <b><i>Background/Aims:</i></b> Dialysis patients are at a higher risk for cardiovascular implantable electronic device (CIED) infection-related hospitalizations. We compared the outcomes and cost for dialysis and non-dialysis patients hospitalized with CIED infections. <b><i>Methods:</i></b> We conducted a retrospective analysis of the Nationwide Inpatient Sample (NIS) discharge records from 2005 to 2010. Patients with CIED infections were identified using ICD-9 codes for device-related infections or device procedure along with bacteremia, endocarditis or systemic infection. Dialysis patients were identified using ICD-9 codes. Multivariable logistic and linear regressions were performed to examine in-hospital mortality, length of stay and cost. <b><i>Results:</i></b> Of the 87,798 estimated hospitalizations with CIED infections, 6,665 (7.6%) were dialysis patients. CIED-infection-related hospitalization has increased over time among dialysis patients. In-hospital mortality was higher among dialysis patients (13.6% vs. 5.9%, p &lt; 0.001). In the multivariable model, dialysis patients had higher odds of in-hospital mortality (odds ratio 1.98; 95% CI: 1.6, 2.4) compared to the non-dialysis group. Dialysis patients had a longer median length of stay (12 days vs. 7 days, p &lt; 0.001) and majority required extended care facility upon discharge (51.2% vs. 35.0%, p &lt; 0.001) compared to the non-dialysis group. Dialysis status was associated with 50.3% increased cost of hospitalization (p &lt; 0.001). <b><i>Conclusion:</i></b> CIED-infection related hospitalization is increasing among patients undergoing dialysis and is associated with higher in-hospital mortality, longer hospital stay and higher costs of hospitalization. Future studies should examine the reasons for such a high risk and find means to improve outcomes in dialysis population.
DOI: 10.6084/m9.figshare.5126995
title: Supplementary Material for: Assessment of the Pharmacogenomics Educational Environment in Southeast Europe

description: <b><i>Background/Aims:</i></b> Pharmacogenomics aims to use the information derived from an individual's genomic profile in the context of individualizing medical treatment modalities. However, currently, pharmacogenomics education is not uniformly provided to health care professionals. This study investigates the status of pharmacogenomics education in Southeast Europe. <b><i>Methods:</i></b> University websites served as information sources in order to investigate the discrepancies in pharmacogenomics education in Southeast Europe. In parallel, a survey was conducted at the University of Cagliari (Italy) to test pharmacogenomics knowledge and understanding among specialists, residents and undergraduate students. <b><i>Results:</i></b> Our study shows that pharmacogenomics knowledge is not uniformly spread in universities in Southeast Europe and provides the basis for the harmonization of pharmacogenomics education that would directly impact on a smoother integration of pharmacogenomics into mainstream medical practice. Also, a considerable gap in pharmacogenomics education was obvious between the group of specialists and the groups of residents and undergraduate students. <b><i>Conclusions:</i></b> Pharmacogenomics education as well as the continuous enrichment of pharmacogenomics knowledge for health care professionals are fundamental approaches toward personalized medicine. Ideally, pharmacogenomics should be taught as a stand-alone course or at least in the context of genetics courses that already exist in universities in Southeast Europe.
DOI: 10.6084/m9.figshare.5126998.v1
title: Supplementary Material for: The Impact of Renin-Angiotensin-Aldosterone System Blockade on Contrast-Induced Nephropathy: A Meta-Analysis of 12 Studies with 4,493 Patients

description: <b><i>Objectives:</i></b> This meta-analysis investigated the impact of renin-angiotensin-aldosterone system (RAAS) blockade on the occurrence of contrast-induced nephropathy (CIN). <b><i>Methods:</i></b> Twelve studies comparing the use of RAAS blockade in a total of 4,493 patients undergoing a contrast-using procedure were included. The primary endpoint was the overall postprocedural incidence of CIN. <b><i>Results:</i></b> In the overall pooled analysis, there was no significant difference between the two groups, RAAS blockade ‘used' versus ‘not-used', in the incidence of postprocedural CIN in the random-effects model (OR 1.27, 95% CI 1.77-2.11, p = 0.351, I<sup>2</sup> = 61.9%). In the stratified analysis, however, for chronic RAAS blockade users, the continuation of the drug was significantly associated with a higher incidence of CIN compared with discontinuation (OR 2.06, 95% CI 1.62-2.61, p &lt; 0.001, I<sup>2</sup> = 0.0%). A hazard of continuation was marked in a subgroup of older patients or in patients with chronic kidney disease. For drug-na9ve patients, however, administration of RAAS blockade before contrast procedures did not reduce the development of CIN significantly (OR 0.52, 95% CI 0.23-1.16, p = 0.108, I<sup>2</sup> = 34.2%). <b><i>Conclusion:</i></b> Discontinuation of RAAS blockade in chronic users is associated with a significantly lower incidence of CIN, whereas administration of RAAS blockade as a preventive measure for na9ve patients did not show a significant effect on the incidence of CIN. i 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5126989
title: Supplementary Material for: PTEN Deficiency as a Predictive Biomarker of Resistance to HER2-Targeted Therapy in Advanced Gastric Cancer

description: <b><i>Background:</i></b> To investigate the role of the phosphoinositide 3-kinase (PI3K) pathway activation in human epidermal growth factor receptor 2 (HER2)-targeted therapy. <b><i>Methods:</i></b> We evaluated the predictive roles of PI3K, catalytic alpha (PIK3CA), and phosphatase and tensin homolog (PTEN) in HER2-based therapy (either trastuzumab or lapatinib). PTEN expression and <i>PIK3CA</i> mutation were analyzed using immunohistochemistry and pyrosequencing. <b><i>Results:</i></b> Forty-eight patients received trastuzumab (n = 39) or lapatinib (n = 9) combination chemotherapy. PTEN loss was found in 47.9% (n = 23), but no <i>PIK3CA</i> mutations were identified. Twenty-six (54.1%) patients responded to HER2-based therapy, without a significant difference between patients with PTEN loss and those without (52.2 vs. 56.0%). Among the patients with responsive disease, time to best response did not differ by PTEN status, but the duration of response was significantly shorter for patients with PTEN loss (median 4.2 vs. 6.1 months, p = 0.04). In addition, patients with PTEN loss had a significantly shorter progression-free survival time (median 4.9 vs. 7.3 months, p = 0.047). <b><i>Conclusions:</i></b> PTEN deficiency is an important predictive marker for early resistance to HER2 inhibitor treatment in gastric cancer patients. This finding may be useful for the development of drug combinations and identification of patients who need a modified treatment strategy. © 2014 S. Karger AG, Basel
DOI: 10.6084/m9.figshare.5126980
title: Supplementary Material for: Cancer Patients' Preferences for Quantity or Quality of Life: German Translation and Validation of the Quality and Quantity Questionnaire

description: <b><i>Background: </i></b>Decision-making with patients with incurable cancer often requires trade-offs between quality and length of life. The ‘Quality and Quantity Questionnaire' (QQ) is an English-language measure of patients' preference for length or quality of life. The aim of this study was to translate and validate this questionnaire. <b><i>Materials and Methods: </i></b>1 new item was formulated to improve the ‘Quality of life' scale. Construct validity including exploratory factor analysis, convergent and discriminant validity, and reliability was determined in n = 194 patients. <b><i>Results: </i></b>The acceptability of the questionnaire among patients was high. The item-non-response rate was very low (2.5-4%). The 2 QQ scales ‘Quality of life' (QL) and ‘Length of life' (LL) had good and acceptable internal consistency (Cronbach's = 0.71 for LL and 0.59 for QL). Convergent validity was shown by significant correlation of the QL subscale with the CCAT (Cancer Communication Assessment Tool) subscale ‘Limitation of treatment' (r = 0.37, p &lt; 0.01) and the LL scale with the CCAT subscale ‘Continuing treatment' (r = 0.24, p = 0.00). <b><i>Conclusion: </i></b>The German version of ‘QQ' has satisfactory psychometric properties for measuring patients' preferences for LL or QL. It can be used in all research fields that should be informed by patients' preferences: shared decision-making, palliative care, and health services.
DOI: 10.6084/m9.figshare.5126983
title: Supplementary Material for: A Novel Mutation in the <b><i>ROGDI</i></b> Gene in a Patient with Kohlschütter-Tönz Syndrome

description: Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the <i>ROGDI</i> gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel<i> ROGDI</i> homozygous mutation NM_024589.1: c.117+1G&gt;T [Chr16 (GRCh37): g.4852382C&gt;A] which confirmed the diagnosis of Kohlschütter-Tönz syndrome. The mutation abolishes the usual splice donor site of intron 2 which leads to the deletion of exon 2 and in-frame assembly of exon 3. Exon 2 encodes a highly conserved leucine-rich region that is essential for ROGDI protein function. Hence, this deletion may affect the function of the ROGDI protein.
DOI: 10.6084/m9.figshare.5126977
title: Supplementary Material for: Total or Subtotal Colectomy in Patients Undergoing Surgery for Primary or Recurrent Epithelial Ovarian Cancer

description: <b><i>Background: </i></b>There is controversy as to whether performing a total or subtotal colectomy is justified in patients with advanced ovarian cancer, given its potential for morbidity and a negative effect on long-term quality of life. The aim of this study was to assess the perioperative complications, mortality and outcomes of patients who underwent total or subtotal colectomy as part of the surgical procedure for primary or recurrent epithelial ovarian cancer. <b><i>Patients and Methods: </i></b>All patients who had undergone surgery including a total or subtotal colectomy for advanced or recurrent ovarian cancer between 2005 and 2013 at our institution were retrospectively identified. <b><i>Results: </i></b>In this time period, 339 patients underwent surgery for epithelial ovarian cancer, which in 11 (3%) patients included a total or subtotal colectomy. Severe grade 3-4 postoperative complications occurred in 3 (27%) patients, and 1 (9%) patient died within 60 days of surgery. <b><i>Conclusion: </i></b>A total or subtotal colectomy is associated with increased but acceptable morbidity in selected patients undergoing primary cytoreductive surgery. However, in the recurrent/palliative setting, total or subtotal colectomy should be avoided as the prognosis is poor and the morbidity outweighs the clinical benefit.
DOI: 10.6084/m9.figshare.5126983.v1
title: Supplementary Material for: A Novel Mutation in the <b><i>ROGDI</i></b> Gene in a Patient with Kohlschütter-Tönz Syndrome

description: Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the <i>ROGDI</i> gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel<i> ROGDI</i> homozygous mutation NM_024589.1: c.117+1G&gt;T [Chr16 (GRCh37): g.4852382C&gt;A] which confirmed the diagnosis of Kohlschütter-Tönz syndrome. The mutation abolishes the usual splice donor site of intron 2 which leads to the deletion of exon 2 and in-frame assembly of exon 3. Exon 2 encodes a highly conserved leucine-rich region that is essential for ROGDI protein function. Hence, this deletion may affect the function of the ROGDI protein.
DOI: 10.6084/m9.figshare.5126989.v1
title: Supplementary Material for: PTEN Deficiency as a Predictive Biomarker of Resistance to HER2-Targeted Therapy in Advanced Gastric Cancer

description: <b><i>Background:</i></b> To investigate the role of the phosphoinositide 3-kinase (PI3K) pathway activation in human epidermal growth factor receptor 2 (HER2)-targeted therapy. <b><i>Methods:</i></b> We evaluated the predictive roles of PI3K, catalytic alpha (PIK3CA), and phosphatase and tensin homolog (PTEN) in HER2-based therapy (either trastuzumab or lapatinib). PTEN expression and <i>PIK3CA</i> mutation were analyzed using immunohistochemistry and pyrosequencing. <b><i>Results:</i></b> Forty-eight patients received trastuzumab (n = 39) or lapatinib (n = 9) combination chemotherapy. PTEN loss was found in 47.9% (n = 23), but no <i>PIK3CA</i> mutations were identified. Twenty-six (54.1%) patients responded to HER2-based therapy, without a significant difference between patients with PTEN loss and those without (52.2 vs. 56.0%). Among the patients with responsive disease, time to best response did not differ by PTEN status, but the duration of response was significantly shorter for patients with PTEN loss (median 4.2 vs. 6.1 months, p = 0.04). In addition, patients with PTEN loss had a significantly shorter progression-free survival time (median 4.9 vs. 7.3 months, p = 0.047). <b><i>Conclusions:</i></b> PTEN deficiency is an important predictive marker for early resistance to HER2 inhibitor treatment in gastric cancer patients. This finding may be useful for the development of drug combinations and identification of patients who need a modified treatment strategy. © 2014 S. Karger AG, Basel