cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5122801.v1
title: Supplementary Material for: Effective Subthalamic Nucleus Deep Brain Stimulation Sites May Differ for Tremor, Bradykinesia and Gait Disturbances in Parkinson’s Disease

description: <i>Background/Aims:</i> Subthalamic nucleus (STN) deep brain stimulation (DBS) is an effective therapy for Parkinson’s disease (PD). This study investigates whether improvement for particular PD symptoms varies differentially with respect to stimulation location in the STN. <i>Methods:</i> Ten PD patients treated with bilateral STN DBS were enrolled in the study. Each electrode contact was stimulated independently to assess for changes in tremor, bradykinesia, and gait. Electrode contacts were localized via MRI. A novel iterative volumetric analysis was used to search the contact space for stimulation regions corresponding to alleviation of specific symptoms. <i>Results:</i> Tremor was best controlled with DBS applied to the more dorsal, anterior, and medial areas of the contact space. Improvement in bradykinesia was seen largely within the middle of the contact space. Gait improvement was observed with ventral contacts, likely bordering the ventral boundaries of the STN. <i>Conclusion:</i> The iterative volumetric analysis is a valuable tool in identifying anatomic regions responsive to DBS across a subject population treated for PD. In the subjects tested, overlapping efficacy for all symptoms was observed in the region of the STN, but anatomic variances in the responsiveness for tremor, bradykinesia, and gait were found.
DOI: 10.6084/m9.figshare.5122804.v1
title: Supplementary Material for: Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

description: Array comparative genomic hybridization (aCGH) has led to an increased detection of causal chromosomal imbalances in individuals with congenital heart defects (CHD). The introduction of aCGH as a diagnostic tool in a clinical cardiogenetic setting entails numerous challenges. Based on our own experience as well as those of others described in the literature, we outline the state of the art and attempt to answer a number of outstanding questions such as the detection frequency of causal imbalances in different patient populations, the added value of higher-resolution arrays, and the existence of predictive factors in syndromic cases. We introduce a step-by-step approach for clinical interpretation of copy number variants (CNV) detected in CHD, which is primarily based on gene content and overlap with known chromosomal syndromes, rather than on CNV inheritance and size. Based on this algorithm, we have reclassified the detected aberrations in aCGH studies for their causality for syndromic and non-syndromic CHD. From this literature overview, supplemented with own investigations in a cohort of 46 sporadic patients with severe non-syndromic CHD, it seems clear that the frequency of causal CNVs in non-syndromic CHD populations is lower than that in syndromic CNV populations (3.6 vs. 19%). Moreover, causal CNVs in non-syndromic CHD mostly involve imbalances with a moderate effect size and reduced penetrance, whereas the majority of causal imbalances in syndromic CHD consistently affects human development and significantly reduces reproductive fitness.
DOI: 10.6084/m9.figshare.5122783
title: Supplementary Material for: Evaluation of JNK Blockade as an Early Intervention Treatment for Type 1 Diabetic Nephropathy in Hypertensive Rats

description: <i>Background/Aims:</i> The c-Jun amino-terminal kinase (JNK) signaling pathway is activated in human kidney diseases and promotes renal injury in experimental glomerulonephritis. In this study, we examined whether JNK signaling plays a role in the development of diabetic nephropathy or in regulating hypertension, which exacerbates diabetic renal injury. <i>Methods:</i> Diabetes was induced in spontaneously hypertensive rats (SHR) using streptozotocin. At week 16 of diabetes, rats with equivalent hyperglycemia and albuminuria were randomized into groups which received no treatment, vehicle alone or a selective JNK inhibitor (CC-930, 60 mg/kg/bid) for 10 weeks. These rats were assessed for hypertension and progression of renal damage. <i>Results:</i> At week 16, diabetic rats showed increased kidney JNK activation compared with nondiabetic controls. Effective JNK inhibition was demonstrated at week 26 by reductions in c-Jun phosphorylation. CC-930 did not affect blood pressure, kidney hypertrophy, glomerular hyperfiltration, podocyte loss, glomerular fibrosis or tubulointerstitial injury in diabetic SHR. However, CC-930 reduced macrophages and <i>ccl2</i> mRNA levels in diabetic kidneys. In contrast, CC-930 exacerbated albuminuria at week 26, which was associated with reduced glomerular mRNA levels of the podocyte-specific molecules, nephrin and podocin. <i>Conclusion:</i> JNK inhibition does not prevent the progression of early diabetic renal injury in hypertensive rats, which contrasts with the ability of JNK inhibition to suppress albuminuria and injury in experimental glomerulonephritis.
DOI: 10.6084/m9.figshare.5122789
title: Supplementary Material for: Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children

description: <i>Backgrounds:</i> Data regarding genetics of Hashimoto’s disease (HD) and Graves’ disease (GD) in Korean children are lacking. <i>Methods:</i> 73 patients with autoimmune thyroid disease (AITD; HD 32, GD 41) were recruited. We analyzed human leukocyte antigen (HLA) class I and HLA-DRB1 by PCR-SSP, and compared them with those of 159 controls. <i>Results:</i> In AITD, the allele frequencies of HLA-A*02, -B*46, -Cw*01 and -DRB1*08 were higher and those of HLA-A*30, -B*07, -Cw*07 and -DRB1*01 were lower than in controls. In HD, those of HLA-B*46 and -Cw*01 were higher and those of HLA-DRB1*01 and -Cw*07 were lower than in controls. In GD, those of HLA-A*02, -B*46, -Cw*01 and -DRB1*08 were higher and those of HLA-DRB1*07 and -Cw*07 were lower than in controls. Between HD and GD, there were no significant differences in allele frequencies. The risk of AITD in the presence of both HLA-B*46 and -Cw*01 is higher than in the presence of either allele alone. <i>Conclusion:</i> The susceptible and protectable alleles in HD are similar to those in GD. Coexistence of HLA-B*46 and -Cw*01 may be a genetic gene marker for early-onset AITD in Koreans.
DOI: 10.6084/m9.figshare.5122792
title: Supplementary Material for: Proton Pump Inhibitors versus Histamine-2-Receptor Antagonists for the Management of Iatrogenic Gastric Ulcer after Endoscopic Mucosal Resection or Endoscopic Submucosal Dissection: A Meta-Analysis of Randomized Trials

description: <i>Background/Aims:</i> Both proton pump inhibitor (PPI) and histamine-2-receptor antagonist (H<sub>2</sub>RA) are considered to be effective for the treatment of iatrogenic gastric ulcer after endoscopic mucosal resection (EMR) or endoscopic submucosal dissection (ESD). We aimed to systematically evaluate the evidence comparing PPI and H<sub>2</sub>RA for iatrogenic ulcer. <i>Methods:</i> Data from PubMed, Cochrane Library and Google Scholar were searched to identify eligible randomized trials. Outcome measures were delayed bleeding, epigastric pain and ulcer healing. <i>Results:</i> Six full-text studies were identified including a total of 522 patients. Pooled data suggested a significantly lower bleeding rate in the PPI group than in the H<sub>2</sub>RA group (odds ratio (OR) 0.49, 95% confidence interval (CI) 0.25-0.95). Subgroup analysis showed PPI was more effective in the prevention of bleeding than H<sub>2</sub>RA for ESD-induced ulcer (OR 0.41, 95% CI 0.20-0.85) and 8-week duration of medication (OR 0.36, 95% CI 0.17-0.76). There were no differences in the incidence of epigastric pain (OR 0.90, 95% CI 0.53-1.51) and ulcer healing rate after endoscopic therapies between both groups. <i>Conclusion:</i> This meta-analysis shows PPI is superior to H<sub>2</sub>RA for the prevention of delayed bleeding without different effectiveness in the reduction of epigastric pain and in the promotion of ulcer healing after EMR or ESD.
DOI: 10.6084/m9.figshare.5122795
title: Supplementary Material for: Chronic Consumption of <i>trans-</i>Fat-Rich Diet Increases Hepatic Cholesterol Levels and Impairs Muscle Insulin Sensitivity without Leading to Hepatic Steatosis and Hypertriglyceridemia in Female Fischer Rats

description: <i>Background:</i> The impact of industrial <i>trans</i> fatty acids (TFAs) on lipid metabolism and health remains elusive. <i>Methods:</i> We compared the effect of long-term (52 weeks) ingestion of 10% partially hydrogenated vegetable oil, providing 4.2% of total energy from TFAs, on hepatic lipid metabolism and muscle insulin sensitivity in weanling female Fischer rats with that of palmolein (monounsaturated fatty acid, MUFA), sunflower (n–6 polyunsaturated fatty acid, PUFA), and a blend of sunflower and fish oil (n–3 PUFA). <i>Results:</i> The proportion of plasma high-density lipoprotein cholesterol in total cholesterol and reverse cholesterol transport-associated protein expressions were similar in all the groups. Despite higher lipogenic-pathway protein levels, steatosis or hypertriglyceridemia was not observed in TFA-fed rats. Though TFA ingestion had no effect on fasting plasma glucose, insulin levels or oral glucose tolerance, it significantly decreased muscle insulin-stimulated glucose uptake as compared to PUFAs. Further, TFA ingestion increased adipose tissue retinol-binding protein 4 mRNA as compared to PUFAs (n–6 or n–3). The effects of MUFA (oleic acid) on all these parameters were comparable to those observed for TFAs. <i>Conclusions:</i> Compared to PUFA-rich diets, chronic consumption of a TFA-rich diet did not lead to steatosis or hypertriglyceridemia; however, it significantly impaired muscle insulin sensitivity, while no changes were found in the oral glucose tolerance test.
DOI: 10.6084/m9.figshare.5122786
title: Supplementary Material for: Epidemiology of Interdialytic Ambulatory Hypertension and the Role of Volume Excess

description: <i>Background:</i> The epidemiology of hypertension among hemodialysis (HD) patients is difficult to describe accurately because of difficulties in the assessment of blood pressure (BP). <i>Methods:</i> Using 44-hour interdialytic ambulatory BP measurements, we describe the epidemiology of hypertension in a cohort of 369 patients. To seek correlates of hypertension control, antihypertensive agents were withdrawn among patients with controlled hypertension and ambulatory BP monitoring was repeated. <i>Results:</i> Hypertension (defined as an average ambulatory systolic BP ≧135 mm Hg or diastolic BP ≧85 mm Hg, or the use of antihypertensive medications) was prevalent in 82% of the patients and independently associated with epoetin use, lower body mass index and fewer years on dialysis. Although 89% of the patients were being treated, hypertension was controlled adequately in only 38%. Poor control was independently associated with greater antihypertensive drug use. Inferior vena cava (IVC) diameter in expiration was associated with increased risk of poorly controlled hypertension both in cross-sectional analysis and after withdrawal of antihypertensive drugs. <i>Conclusions:</i> Interdialytic hypertension is highly prevalent and difficult to control among HD patients. End-expiration IVC diameter is associated with poor control of hypertension in cross-sectional analyses as well as after washout of antihypertensive drugs. Among HD patients, an attractive target for improving hypertension control appears to be the reduction of extracellular fluid volume.
DOI: 10.6084/m9.figshare.5122789.v1
title: Supplementary Material for: Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children

description: <i>Backgrounds:</i> Data regarding genetics of Hashimoto’s disease (HD) and Graves’ disease (GD) in Korean children are lacking. <i>Methods:</i> 73 patients with autoimmune thyroid disease (AITD; HD 32, GD 41) were recruited. We analyzed human leukocyte antigen (HLA) class I and HLA-DRB1 by PCR-SSP, and compared them with those of 159 controls. <i>Results:</i> In AITD, the allele frequencies of HLA-A*02, -B*46, -Cw*01 and -DRB1*08 were higher and those of HLA-A*30, -B*07, -Cw*07 and -DRB1*01 were lower than in controls. In HD, those of HLA-B*46 and -Cw*01 were higher and those of HLA-DRB1*01 and -Cw*07 were lower than in controls. In GD, those of HLA-A*02, -B*46, -Cw*01 and -DRB1*08 were higher and those of HLA-DRB1*07 and -Cw*07 were lower than in controls. Between HD and GD, there were no significant differences in allele frequencies. The risk of AITD in the presence of both HLA-B*46 and -Cw*01 is higher than in the presence of either allele alone. <i>Conclusion:</i> The susceptible and protectable alleles in HD are similar to those in GD. Coexistence of HLA-B*46 and -Cw*01 may be a genetic gene marker for early-onset AITD in Koreans.
DOI: 10.6084/m9.figshare.5122777
title: Supplementary Material for: Mutism and Amnesia following High-Voltage Electrical Injury: Psychogenic Symptomatology Triggered by Organic Dysfunction?

description: <i>Background:</i> Mutism and dense retrograde amnesia are found both in organic and dissociative contexts. Moreover, dissociative symptoms may be modulated by right prefrontal activity. A single case, M.R., developed left hemiparesis, mutism and retrograde amnesia after a high-voltage electric shock without evidence of lasting brain lesions. M.R. suddenly recovered from his mutism following a mild brain trauma 2 years later. <i>Methods:</i> M.R.’s neuropsychological pattern and anatomoclinical correlations were studied through (i) language and memory assessment to characterize his deficits, (ii) functional neuroimaging during a standard language paradigm, and (iii) assessment of frontal and left insular connectivity through diffusion tractography imaging and transcranial magnetic stimulation. A control evaluation was repeated after recovery. <i>Findings:</i> M.R. recovered from the left hemiparesis within 90 days of the accident, which indicated a transient right brain impairment. One year later, neurobehavioral, language and memory evaluations strongly suggested a dissociative component in the mutism and retrograde amnesia. Investigations (including MRI, fMRI, diffusion tensor imaging, EEG and r-TMS) were normal. Twenty-seven months after the electrical injury, M.R. had a very mild head injury which was followed by a rapid recovery of speech. However, the retrograde amnesia persisted. <i>Discussion:</i> This case indicates an interaction of both organic and dissociative mechanisms in order to explain the patient’s symptoms. The study also illustrates dissociation in the time course of the two different dissociative symptoms in the same patient.
DOI: 10.6084/m9.figshare.5122771
title: Supplementary Material for: Hypospadias in a Male (78,XY; <i>SRY</i>-Positive) Dog and Sex Reversal Female (78,XX; <i>SRY</i>-Negative) Dogs: Clinical, Histological and Genetic Studies

description: Hypospadias is rarely reported in dogs. In this study we pre-sent 2 novel cases of this disorder of sexual development and, in addition, a case of hereditary sex reversal in a female with an enlarged clitoris. The first case was a male Moscow watchdog with a normal karyotype (78,XY) and the presence of the <i>SRY</i> gene. In this dog, perineal hypospadias, bilateral inguinal cryptorchidism and testes were observed. The second case, representing the Cocker spaniel breed, had a small penis with a hypospadic orifice of the urethra, bilateral cryptorchidism, testis and a rudimentary gonad inside an ovarian bursa, a normal female karyotype (78,XX) and a lack of the <i>SRY</i> gene. This animal was classified as a compound sex reversal (78,XX, <i>SRY</i>-negative) with the hypospadias syndrome. The third case was a Cocker spaniel female with an enlarged clitoris and internally located ovotestes. Cytogenetic and molecular analyses revealed a normal female karyotype (78,XX) and a lack of the <i>SRY</i> gene, while histology of the gonads showed an ovotesticular structure. This case was classified as a typical hereditary sex reversal syndrome (78,XX, <i>SRY</i>-negative). Molecular studies were focused on coding sequences of the <i>SRY</i> gene (case 1) and 2 candidates for monogenic hypospadias, namely <i>MAMLD1</i> (mastermind-like domain containing 1) and <i>SRD5A2</i> (steroid-5-alpha-reductase, alpha polypeptide 2). Sequencing of the entire<i> SRY</i> gene, including 5′- and 3′-flanking regions, did not reveal any mutation. The entire coding sequence of <i>MAMLD1</i> and <i>SRD5A2</i> was analyzed in all the intersexes, as well as in 4 phenotypically normal control dogs (3 females and 1 male). In <i>MAMLD1</i> 2 SNPs, including 1 missense substitution in exon 1 (c.128A&gt;G, Asp43Ser), were identified, whereas in <i>SRD5A2</i> 7 polymorphisms, including 1 missense SNP (c.358G&gt;A, Ala120Thr), were found. None of the identified polymorphisms cosegregated with the intersexual phenotype, thus, we cannot confirm that hypospadias may be associated with polymorphism in the coding sequence of the studied genes.
DOI: 10.6084/m9.figshare.5122780
title: Supplementary Material for: The Defined Daily Doses of Low Molecular Weight Heparins Do Not Reflect Current Clinical Practice

description: Medicine
DOI: 10.6084/m9.figshare.5122795.v1
title: Supplementary Material for: Chronic Consumption of <i>trans-</i>Fat-Rich Diet Increases Hepatic Cholesterol Levels and Impairs Muscle Insulin Sensitivity without Leading to Hepatic Steatosis and Hypertriglyceridemia in Female Fischer Rats

description: <i>Background:</i> The impact of industrial <i>trans</i> fatty acids (TFAs) on lipid metabolism and health remains elusive. <i>Methods:</i> We compared the effect of long-term (52 weeks) ingestion of 10% partially hydrogenated vegetable oil, providing 4.2% of total energy from TFAs, on hepatic lipid metabolism and muscle insulin sensitivity in weanling female Fischer rats with that of palmolein (monounsaturated fatty acid, MUFA), sunflower (n–6 polyunsaturated fatty acid, PUFA), and a blend of sunflower and fish oil (n–3 PUFA). <i>Results:</i> The proportion of plasma high-density lipoprotein cholesterol in total cholesterol and reverse cholesterol transport-associated protein expressions were similar in all the groups. Despite higher lipogenic-pathway protein levels, steatosis or hypertriglyceridemia was not observed in TFA-fed rats. Though TFA ingestion had no effect on fasting plasma glucose, insulin levels or oral glucose tolerance, it significantly decreased muscle insulin-stimulated glucose uptake as compared to PUFAs. Further, TFA ingestion increased adipose tissue retinol-binding protein 4 mRNA as compared to PUFAs (n–6 or n–3). The effects of MUFA (oleic acid) on all these parameters were comparable to those observed for TFAs. <i>Conclusions:</i> Compared to PUFA-rich diets, chronic consumption of a TFA-rich diet did not lead to steatosis or hypertriglyceridemia; however, it significantly impaired muscle insulin sensitivity, while no changes were found in the oral glucose tolerance test.
DOI: 10.6084/m9.figshare.5122774
title: Supplementary Material for: Criminal Manifestations of Dementia Patients: Report from the National Forensic Hospital

description: <i>Background/Aims:</i> Some dementia patients have profound behavioral and psychological symptoms which might cause legal violation. We illustrate clinical and criminal characteristics of dementia patients who had been incarcerated because of criminal activity. <i>Methods:</i> The National Forensic Hospital is the only hospital-based correctional facility in the Republic of Korea which incarcerates criminals with psychiatric or neurological disease. Between May 2008 and April 2009, those patients who had been diagnosed with dementia in the National Forensic Hospital were included in the study. We reviewed their medical and legal reports. <i>Results:</i> There were 7 dementia patients out of 752 patients, including 2 Alzheimer’s disease (AD) patients, 1 vascular dementia patient, and 4 patients with alcohol-related dementia. Criminal behavior included simple larceny by the 2 AD patients, and multiple violent crimes in a drunken state by the other 5 patients. <i>Conclusions:</i> This study reported diverse criminal behaviors among dementia patients. Inebriation may be related to violent criminal behavior among some dementia patients.
DOI: 10.6084/m9.figshare.5122780.v1
title: Supplementary Material for: The Defined Daily Doses of Low Molecular Weight Heparins Do Not Reflect Current Clinical Practice

description: Medicine
DOI: 10.6084/m9.figshare.5122774.v1
title: Supplementary Material for: Criminal Manifestations of Dementia Patients: Report from the National Forensic Hospital

description: <i>Background/Aims:</i> Some dementia patients have profound behavioral and psychological symptoms which might cause legal violation. We illustrate clinical and criminal characteristics of dementia patients who had been incarcerated because of criminal activity. <i>Methods:</i> The National Forensic Hospital is the only hospital-based correctional facility in the Republic of Korea which incarcerates criminals with psychiatric or neurological disease. Between May 2008 and April 2009, those patients who had been diagnosed with dementia in the National Forensic Hospital were included in the study. We reviewed their medical and legal reports. <i>Results:</i> There were 7 dementia patients out of 752 patients, including 2 Alzheimer’s disease (AD) patients, 1 vascular dementia patient, and 4 patients with alcohol-related dementia. Criminal behavior included simple larceny by the 2 AD patients, and multiple violent crimes in a drunken state by the other 5 patients. <i>Conclusions:</i> This study reported diverse criminal behaviors among dementia patients. Inebriation may be related to violent criminal behavior among some dementia patients.
DOI: 10.6084/m9.figshare.5122765
title: Supplementary Material for: Alexithymia in Cancer Patients: Review of the Literature

description: <i>Objective:</i> To summarize the literature on alexithymia in cancer patients. <i>Methods:</i> The empirical literature published between 1972 and January 2010 was searched through MEDLINE, PSYINFO, EMBASE and the Cochrane Library. Key words were: alexithymia, affective symptoms, cancer, neoplasms. <i>Results:</i> The search identified 16 relevant studies which are methodologically problematic and show conflicting results. However, several interesting hypotheses emerge such as a possible link between alexithymia and the immune system, between alexithymia and quality of life, or between alexithymia, anxiety and depression. The question to what degree alexithymia in cancer patients is a trait or a state cannot be answered by these studies. <i>Conclusions:</i> A lack of methodologically sound studies and the large variations of results among studies suggest that the role of alexithymia in patients with cancer deserves more systematic research. Consequently, studies are needed which investigate the nature (state or trait) of alexithymia, its impact on cancer development and progression, as well as its influence on compliance and on the underestimation of psychological distress and psychiatric outcome in cancer patients.