cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5125582
title: Supplementary Material for: Hypoxia Induces the Expression of Transketolase-Like 1 in Human Colorectal Cancer

description: <b><i>Background and Aims:</i></b> Transketolase-like (TKTL) 1 is one of the key enzymes for anaerobic sugar degradation even in the presence of oxygen (aerobic glycolysis). Transketolase-dependent reactions supply malignant tumors with ribose and NADPH. Therefore, TKTL1 activity could be crucial for tumor proliferation and survival. The aim of the study was to evaluate the expression of TKTL1 in colorectal cancer (CRC) and its regulation under hypoxic conditions. <b><i>Methods:</i></b> We studied TKTL1 mRNA and protein expression in CRC cell lines and human CRC biopsies by quantitative real-time PCR, Western blotting and immunohistochemistry. Regulation of TKTL1 under oxygen depletion was analyzed by cultivating cells either in a three-dimensional spheroid model or in a hypoxia incubator chamber. <b><i>Results:</i></b> TKTL1 mRNA was heterogeneously expressed in monolayers of cells with high levels in HT-29 and SW480. TKTL1 protein was also clearly detectable in HT-29 and SW480. Hypoxia-inducible factor (HIF)-1α protein expression correlated with TKTL1 protein expression in SW480 spheroids over time. On the one hand, induction of hypoxia in T84 spheroids did not induce TKTL1; on the other hand, hypoxia by incubation at 1% O<sub>2</sub> in a hypoxia incubator chamber clearly showed an upregulation of TKTL1. In 50% of CRC patients, TKTL1 protein expression was upregulated in tumor compared to non-tumor tissue. The immunohistochemical staining of TKTL1 in CRC patient samples resulted in 14 positive and 30 negative samples. <b><i>Conclusions:</i></b> TKTL1 expression correlated with HIF-1α protein expression and was induced upon hypoxic conditions which could facilitate energy supply to tumors under these circumstances.
DOI: 10.6084/m9.figshare.5125585
title: Supplementary Material for: Carcinosarcoma of the Female Urethra

description: Carcinosarcoma is a rare malignant tumor with a biphasic morphology characterized by the presence of a malignant epithelial and mesenchymal component. It has been reported in many organs, including the genitourinary tract. We describe a case of a 47-year-old woman admitted to our hospital for history of recurrent urinary tract infection, dysuria and discharge of bloody fluid from the urethra at the end of urination. A tender palpable mass under the anterior vaginal wall was found and pathological examination showed a urethral carcinosarcoma. The histopathogenetic hypothesis and clinical management were considered in this report.
DOI: 10.6084/m9.figshare.5125573
title: Supplementary Material for: NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development

description: <b><i>Background:</i></b> Steroidogenic factor 1, encoded by the <i>NR5A1</i> gene, is a key regulator of endocrine function within the hypothalamic-pituitary-steroidogenic axis. Both homozygous, compound heterozygous and heterozygous mutations in the <i>NR5A1</i> gene may determine 46,XY disorders of sex development (DSD). <b><i>Patients and Methods:</i></b><i>NR5A1</i> gene sequencing was performed in a cohort of 6 patients with 46,XY DSD without specific diagnosis. <b><i>Results:</i></b> Heterozygous <i>NR5A1</i> gene mutations were found in 2 girls, aged 0.5 years and 14 years. The older girl harbored the c.250C&gt;T transition in exon 4 (p.Arg84Cys), previously reported in a Japanese girl. The younger girl presented a de novo novel exon 6 heterozygous frameshift mutation (c.1074dupG) in codon 359 associated with the p.Gly146Ala polymorphism the latter inherited from her father. This baby showed severe impairment of androgen secretion from the first months of life. Overt adrenal insufficiency did not occur, but the older girl showed subnormal cortisol peak after ACTH stimulation. <b><i>Conclusions:</i></b><i>NR5A1</i> gene mutations are a relatively frequent cause of 46,XY DSD in humans. Clear indications for management of these individuals remain elusive, mainly when diagnosis is made in infancy. Long-term monitoring of adrenal function should be recommended.
DOI: 10.6084/m9.figshare.5125576
title: Supplementary Material for: Chromosome Evolution in Dendropsophini (Amphibia, Anura, Hylinae)

description: Dendropsophini is the most species-rich tribe within Hylidae with 234 described species. Although cytogenetic information is sparse, chromosome numbers and morphology have been considered as an important character system for systematic inferences in this group. Using a diversity of standard and molecular techniques, we describe the previously unknown karyotypes of the genera <i>Xenohyla</i>, <i>Scarthyla</i> and <i>Sphaenorhynchus</i> and provide new information on <i>Dendropsophus</i> and<i> Lysapsus</i>. Our results reveal significant karyotype diversity among Dendropsophini, with diploid chromosome numbers ranging from 2n = 22 in <i>S. goinorum</i>, 2n = 24 in <i>Lysapsus</i>, <i>Scinax</i>, <i>Xenohyla</i>, and almost all species of <i>Sphaenorhynchus</i> and <i>Pseudis</i>, 2n = 26 in <i>S.</i><i>carneus</i>, 2n = 28 in <i>P.</i><i>cardosoi</i>, to 2n = 30 in all known <i>Dendropsophus</i> species. Although nucleolar organizer regions (NORs) and C-banding patterns show a high degree of variability, NOR positions in 2n = 22, 24 and 28 karyotypes and C-banding patterns in <i>Lysapsus</i> and <i>Pseudis</i> are informative cytological markers. Interstitial telomeric sequences reveal a diploid number reduction from 24 to 22 in <i>Scarthyla</i> by a chromosome fusion event. The diploid number of <i>X.</i><i>truncata</i> corroborates the character state of 2n = 30 as a synapomorphy of <i>Dendropsophus</i>.
DOI: 10.6084/m9.figshare.5125579
title: Supplementary Material for: The Role of Piloerection in Primate Thermoregulation

description: The insulating properties of the primate integument are influenced by many factors, including piloerection, which raises the hair and insulates the body by creating motionless air near the skin's surface. The involuntary muscles that control piloerection, the musculi arrectores pilorum (MAP), are mostly absent except on the tail in most strepsirhines, and are entirely absent in tarsiers and some lorisids. The absence of piloerection and the reduced effectiveness of pilary insulation in preventing heat loss affected the evolution of behavior and metabolic thermoregulation in these animals. In lemurs, this situation contributed to the use of positional and social behaviors such as sunning and huddling that help maintain thermal homeostasis during day-night and seasonal temperature cycles. It also contributed in many lemurs and lorises to the evolution of a wide variety of activity patterns and energy-conserving metabolic patterns such as cathemerality, daily torpor, and hibernation. The absence of functional MAP in strepsirhines and tarsiers implies the absence of effective piloerection in early primates, and the reacquisition of whole-body MAP in ancestral anthropoids prior to the separation of platyrrhine and catarrhine lineages.
DOI: 10.6084/m9.figshare.5125582.v1
title: Supplementary Material for: Hypoxia Induces the Expression of Transketolase-Like 1 in Human Colorectal Cancer

description: <b><i>Background and Aims:</i></b> Transketolase-like (TKTL) 1 is one of the key enzymes for anaerobic sugar degradation even in the presence of oxygen (aerobic glycolysis). Transketolase-dependent reactions supply malignant tumors with ribose and NADPH. Therefore, TKTL1 activity could be crucial for tumor proliferation and survival. The aim of the study was to evaluate the expression of TKTL1 in colorectal cancer (CRC) and its regulation under hypoxic conditions. <b><i>Methods:</i></b> We studied TKTL1 mRNA and protein expression in CRC cell lines and human CRC biopsies by quantitative real-time PCR, Western blotting and immunohistochemistry. Regulation of TKTL1 under oxygen depletion was analyzed by cultivating cells either in a three-dimensional spheroid model or in a hypoxia incubator chamber. <b><i>Results:</i></b> TKTL1 mRNA was heterogeneously expressed in monolayers of cells with high levels in HT-29 and SW480. TKTL1 protein was also clearly detectable in HT-29 and SW480. Hypoxia-inducible factor (HIF)-1α protein expression correlated with TKTL1 protein expression in SW480 spheroids over time. On the one hand, induction of hypoxia in T84 spheroids did not induce TKTL1; on the other hand, hypoxia by incubation at 1% O<sub>2</sub> in a hypoxia incubator chamber clearly showed an upregulation of TKTL1. In 50% of CRC patients, TKTL1 protein expression was upregulated in tumor compared to non-tumor tissue. The immunohistochemical staining of TKTL1 in CRC patient samples resulted in 14 positive and 30 negative samples. <b><i>Conclusions:</i></b> TKTL1 expression correlated with HIF-1α protein expression and was induced upon hypoxic conditions which could facilitate energy supply to tumors under these circumstances.
DOI: 10.6084/m9.figshare.5125567
title: Supplementary Material for: Clinical Profile and Prognostic Significance of Atrial Fibrillation in Hypertrophic Cardiomyopathy

description: <b><i>Objectives:</i></b> The clinical outcomes of hypertrophic cardiomyopathy (HCM) are largely unpredictable. This study aimed to investigate the relationship between atrial fibrillation (AF) and its prognostic implications in Chinese patients with HCM. <b><i>Methods:</i></b> From 1999 to 2011, 654 unrelated HCM patients were consecutively recruited at Fuwai Hospital. Medical history, including electrocardiographic and echocardiographic data, was analyzed. <b><i>Results:</i></b> AF was documented in 158 patients (24%). During follow-up of 4.2 ± 2.8 years, Kaplan-Meier analysis revealed that the presence of AF was associated with an increased risk for all-cause death (p = 0.001), cardiovascular death (p &lt; 0.001), severe heart failure (p &lt; 0.001) and ischemic stroke (p &lt; 0.001). Multivariate analysis identified AF as an independent predictor of stroke-related death (HR 6.71, 95% CI 1.23-38.58, p = 0.03), advanced heart failure (HR 1.83, 95% CI 1.04-3.22, p = 0.04) and ischemic stroke (HR 9.98, 95% CI 4.06-24.53, p &lt; 0.001). Furthermore, enlarged left atrial diameter was positively related to all-cause death (HR 1.09, 95% CI 1.05-1.13, p &lt; 0.001), cardiovascular death (HR 1.08, 95% CI 1.04-1.20, p &lt; 0.001) and development of advanced heart failure (HR 1.05, 95% CI 1.01-1.10, p = 0.01). <b><i>Conclusions:</i></b> AF predicts poor outcomes for patients with HCM. Left atrial dilation is also related to an adverse prognosis and provides additional prognostic information.
DOI: 10.6084/m9.figshare.5125570
title: Supplementary Material for: Inhibition of the Classical and Lectin Pathway of the Complement System by Recombinant LAIR-2

description: Activation of complement may cause severe tissue damage in antibody-mediated allograft rejection and other antibody-mediated clinical conditions; therefore, novel potent complement inhibitors are needed. Previously, we described binding of the inhibitory receptor LAIR-1 and its soluble family member LAIR-2 to collagen. Here, we investigated binding of LAIR-1 and LAIR-2 to the complement proteins C1q and MBL, which both have collagen-like domains, and evaluated the effect of this binding on complement function. We demonstrate specific binding of recombinant LAIR proteins to both C1q and MBL. Surface plasmon resonance experiments showed that LAIR-2-Fc protein bound C1q and MBL with the highest affinity compared to LAIR-2-HIS. We, therefore, hypothesized that LAIR-2-Fc is a potent complement inhibitor. Indeed, LAIR-2-Fc inhibited C4 fixation to IgG or mannan, reduced activation of C4 by aggregated IgG in plasma and inhibited iC3b deposition on cells. Finally, LAIR-2-Fc inhibited complement-mediated lysis of cells sensitized with anti-HLA antibodies in an ex vivo model for antibody-mediated transplant rejection. Thus, LAIR-2-Fc is an effective novel complement inhibitor for the treatment and prevention of antibody-mediated allograft rejection and antibody-mediated clinical conditions.
DOI: 10.6084/m9.figshare.5125573.v1
title: Supplementary Material for: NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development

description: <b><i>Background:</i></b> Steroidogenic factor 1, encoded by the <i>NR5A1</i> gene, is a key regulator of endocrine function within the hypothalamic-pituitary-steroidogenic axis. Both homozygous, compound heterozygous and heterozygous mutations in the <i>NR5A1</i> gene may determine 46,XY disorders of sex development (DSD). <b><i>Patients and Methods:</i></b><i>NR5A1</i> gene sequencing was performed in a cohort of 6 patients with 46,XY DSD without specific diagnosis. <b><i>Results:</i></b> Heterozygous <i>NR5A1</i> gene mutations were found in 2 girls, aged 0.5 years and 14 years. The older girl harbored the c.250C&gt;T transition in exon 4 (p.Arg84Cys), previously reported in a Japanese girl. The younger girl presented a de novo novel exon 6 heterozygous frameshift mutation (c.1074dupG) in codon 359 associated with the p.Gly146Ala polymorphism the latter inherited from her father. This baby showed severe impairment of androgen secretion from the first months of life. Overt adrenal insufficiency did not occur, but the older girl showed subnormal cortisol peak after ACTH stimulation. <b><i>Conclusions:</i></b><i>NR5A1</i> gene mutations are a relatively frequent cause of 46,XY DSD in humans. Clear indications for management of these individuals remain elusive, mainly when diagnosis is made in infancy. Long-term monitoring of adrenal function should be recommended.
DOI: 10.6084/m9.figshare.5125576.v1
title: Supplementary Material for: Chromosome Evolution in Dendropsophini (Amphibia, Anura, Hylinae)

description: Dendropsophini is the most species-rich tribe within Hylidae with 234 described species. Although cytogenetic information is sparse, chromosome numbers and morphology have been considered as an important character system for systematic inferences in this group. Using a diversity of standard and molecular techniques, we describe the previously unknown karyotypes of the genera <i>Xenohyla</i>, <i>Scarthyla</i> and <i>Sphaenorhynchus</i> and provide new information on <i>Dendropsophus</i> and<i> Lysapsus</i>. Our results reveal significant karyotype diversity among Dendropsophini, with diploid chromosome numbers ranging from 2n = 22 in <i>S. goinorum</i>, 2n = 24 in <i>Lysapsus</i>, <i>Scinax</i>, <i>Xenohyla</i>, and almost all species of <i>Sphaenorhynchus</i> and <i>Pseudis</i>, 2n = 26 in <i>S.</i><i>carneus</i>, 2n = 28 in <i>P.</i><i>cardosoi</i>, to 2n = 30 in all known <i>Dendropsophus</i> species. Although nucleolar organizer regions (NORs) and C-banding patterns show a high degree of variability, NOR positions in 2n = 22, 24 and 28 karyotypes and C-banding patterns in <i>Lysapsus</i> and <i>Pseudis</i> are informative cytological markers. Interstitial telomeric sequences reveal a diploid number reduction from 24 to 22 in <i>Scarthyla</i> by a chromosome fusion event. The diploid number of <i>X.</i><i>truncata</i> corroborates the character state of 2n = 30 as a synapomorphy of <i>Dendropsophus</i>.
DOI: 10.6084/m9.figshare.5125561
title: Supplementary Material for: Clinical Features and Prognostic Factors in Severe Cutaneous Drug Reactions

description: <b><i>Background:</i></b> Severe cutaneous adverse reactions (SCARs) include Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS). SJS and TEN (SJS/TEN) and DRESS are thought to be different diseases; however, they share some clinical and laboratory features. Although SCORTEN serves as an excellent prognostic marker for SJS/TEN, there is still a need for development of other prognostic markers for SCARs. <b><i>Methods:</i></b> The study population consisted of 88 SCAR patients. Clinical characteristics and clinical manifestations were compared between SJS/TEN and DRESS. Risk factor analyses for prolonged hospitalization were performed. <b><i>Results:</i></b> Of the 88 patients, 41 were SJS/TEN and 47 were DRESS. Mortality rates of TEN and DRESS were 9.8 and 2.1%, respectively. Allopurinol and carbamazepine were the most common causes of both SJS/TEN and DRESS (34.7 and 62.9%, respectively). Some of the systemic presentations, such as fever and laboratory abnormalities were common in both phenotypes. Thrombocytopenia tended to be related to prolonged hospitalization (longer than 3 weeks) in SJS/TEN (odds ratio, OR = 5.1, 95% confidence interval, CI 0.8-31.8, p = 0.076). In DRESS patients, leukocytosis at presentation (OR 4.8, 95% CI 1.1-20.3, p = 0.03) was related to prolonged hospitalization. <b><i>Conclusions:</i></b> Clinical features of SCARs in a tertiary hospital in Korea were similar to those reported previously. SJS/TEN and DRESS shared some clinical and laboratory features. Thrombocytopenia for SJS/TEN and leukocytosis at presentation for DRESS may be useful prognostic markers for prolonged hospitalization.
DOI: 10.6084/m9.figshare.5125564
title: Supplementary Material for: Combined Serum Creatinine and Cystatin C Schwartz Formula Predicts Kidney Function Better than the Combined CKD-EPI Formula in Children

description: <b><i>Background:</i></b> The combined serum creatinine (SCreat) and cystatin C (CysC) CKD-EPI formula constitutes a new advance for glomerular filtration rate (GFR) estimation in adults. Using inulin clearances (iGFRs), the revised SCreat and the combined Schwartz formulas, this study aims to evaluate the applicability of the combined CKD-EPI formula in children. <b><i>Method:</i></b> 201 iGFRs for 201 children were analyzed and divided by chronic kidney disease (CKD) stages (iGFRs ≥90 ml/min/1.73 m<sup>2</sup>, 90 &gt; iGFRs &gt; 60, and iGFRs ≤59), and by age groups (&lt;10, 10-15, and &gt;15 years). Medians with 95% confidence intervals of bias, precision, and accuracies within 30% of the iGFRs, for all three formulas, were compared using the Wilcoxon signed-rank test. <b><i>Results:</i></b> For the entire cohort and for all CKD and age groups, medians of bias for the CKD-EPI formula were significantly higher (p &lt; 0.001) and precision was significantly lower than the solely SCreat and the combined SCreat and CysC Schwartz formulas. We also found that using the CKD-EPI formula, bias decreased and accuracy increased while the child age group increased, with a better formula performance above 15 years of age. However, the CKD-EPI formula accuracy is 58% compared to 93 and 92% for the SCreat and combined Schwartz formulas in this adolescent group. <b><i>Conclusions:</i></b> The performance of the combined CKD-EPI formula improves in adolescence compared with younger ages. Nevertheless, the CKD-EPI formula performs more poorly than the SCreat and the combined Schwartz formula in pediatric population.
DOI: 10.6084/m9.figshare.5125558
title: Supplementary Material for: Walnuts (Seeds of <b><i>Juglandis</i></b> <b><i>sinensis</i></b> L.) Protect Human Epidermal Keratinocytes against UVB-Induced Mitochondria-Mediated Apoptosis through Upregulation of ROS Elimination Pathways

description: <b><i>Purpose:</i></b> Ultraviolet (UV) light from sunlight is an important environmental factor causing hazardous health effects, including various skin disorders. UV irradiation downregulates reactive oxygen species (ROS) elimination pathways, thereby promoting the production of ROS, which are implicated in mitochondria-mediated apoptosis. Walnuts, the seeds of <i>Juglandis</i><i>sinensis</i> L., are a highly nutritious food and have been shown to have a number of pharmacological activities. To our knowledge, no study on the protective effects of walnuts on human epidermal keratinocytes has been reported previously. Here, we investigated the protective effects of walnuts against UVB (50 mJ/cm<sup>2</sup>) -induced mitochondria-mediated apoptosis. <b><i>Procedures and Results:</i></b> Walnuts significantly and dose-dependently reduced UVB-induced apoptotic toxicity by lactate dehydrogenase assay kit. Walnuts decreased mitochondrial dysfunction, B-cell lymphoma 2 (Bcl-2)-associated X (Bax) protein levels, and cytochrome c release from mitochondria, while increasing Bcl-2 protein levels using immunofluorescence, Western blot, or kit analysis. Moreover, walnuts inhibited caspase-3 activity, indicating an inhibition of the apoptotic cascade, and induced the expression of heme oxygenase and NAD(P)H dehydrogenase via NF-E2-related factor-2 activation using immunofluorescence or Western blot analysis. <b><i>Conclusion:</i></b> Together, these results demonstrate that walnuts can protect human epidermal keratinocytes against UVB-induced mitochondria-mediated apoptosis by regulating ROS elimination pathways.
DOI: 10.6084/m9.figshare.5125561.v1
title: Supplementary Material for: Clinical Features and Prognostic Factors in Severe Cutaneous Drug Reactions

description: <b><i>Background:</i></b> Severe cutaneous adverse reactions (SCARs) include Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS). SJS and TEN (SJS/TEN) and DRESS are thought to be different diseases; however, they share some clinical and laboratory features. Although SCORTEN serves as an excellent prognostic marker for SJS/TEN, there is still a need for development of other prognostic markers for SCARs. <b><i>Methods:</i></b> The study population consisted of 88 SCAR patients. Clinical characteristics and clinical manifestations were compared between SJS/TEN and DRESS. Risk factor analyses for prolonged hospitalization were performed. <b><i>Results:</i></b> Of the 88 patients, 41 were SJS/TEN and 47 were DRESS. Mortality rates of TEN and DRESS were 9.8 and 2.1%, respectively. Allopurinol and carbamazepine were the most common causes of both SJS/TEN and DRESS (34.7 and 62.9%, respectively). Some of the systemic presentations, such as fever and laboratory abnormalities were common in both phenotypes. Thrombocytopenia tended to be related to prolonged hospitalization (longer than 3 weeks) in SJS/TEN (odds ratio, OR = 5.1, 95% confidence interval, CI 0.8-31.8, p = 0.076). In DRESS patients, leukocytosis at presentation (OR 4.8, 95% CI 1.1-20.3, p = 0.03) was related to prolonged hospitalization. <b><i>Conclusions:</i></b> Clinical features of SCARs in a tertiary hospital in Korea were similar to those reported previously. SJS/TEN and DRESS shared some clinical and laboratory features. Thrombocytopenia for SJS/TEN and leukocytosis at presentation for DRESS may be useful prognostic markers for prolonged hospitalization.