cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5126143
title: Supplementary Material for: Postnatal and Adult Immunoglobulin Repertoires of Innate-Like CD19<sup>+</sup>CD45R<sup>lo</sup> B Cells

description: The diversity in antibody repertoire relies on different B cell populations working efficiently to fulfil distinct specific functions. We recently described an innate-like CD19<sup>+</sup>CD45R<sup>-/lo</sup> (19<sup>+</sup>45R<sup>lo</sup>) cell population in postnatal unstimulated adult mice, a heterogeneous population containing cells expressing immunoglobulin M (IgM) and others behaving as differentiated mature B lymphocytes (intracytoplasmic IgG1, AID<sup>+</sup>, Blimp-1<sup>+</sup>RAG2<sup>-</sup>). In the present study, we characterized the Ig repertoire expressed by splenic 19<sup>+</sup>45R<sup>lo</sup> cells, assuming that they would bear a restricted repertoire biased for germline rearrangements and low mutation rates similar to other innate-like cells. Sequences from 19<sup>+</sup>45R<sup>lo</sup> cells displayed a variety of V, D and J regions, and the analysis of the CDR-H3 region revealed an intermediate overall CDR-H3 length and moderate hydrophobicity. Both IgM and switched sequences of PD15 19<sup>+</sup>45R<sup>lo</sup> cells had shorter CDR-H3 region and fewer non-template N nucleotides than adult sequences, as expected for profiles that correspond to an immature phenotype. Regarding the mutation rate in the VH regions, IgG1 sequences already carried a high rate of replacement mutations at PD15, which increased further in the sequences obtained from adult mice. Moreover, statistical models suggest that a proportion of the switched sequences in adult 19<sup>+</sup>45R<sup>lo</sup> cells had experienced antigen selection, unlike other innate-like B cell compartments.
DOI: 10.6084/m9.figshare.5126149.v1
title: Supplementary Material for: A Double-Blind Randomised Controlled Trial of Fish Oil-Based versus Soy-Based Lipid Preparations in the Treatment of Infants with Parenteral Nutrition-Associated Cholestasis

description: <b><i>Background:</i></b> Infants receiving prolonged parenteral nutrition (PN) are at risk of PN-associated cholestasis (PNAC). This can progress to hepatic failure and death if PN cannot be discontinued. Fish oil-based parenteral lipid preparation (FOLP) has been shown to be beneficial in case studies. <b><i>Objectives:</i></b> (1) To evaluate whether FOLP could halt or reverse the progression of PNAC compared with soy-based parenteral lipid preparation (SLP) and (2) to assess the effects of FOLP on liver function and physical growth. <b><i>Methods:</i></b> Design: double-blind randomised controlled trial. Setting: level III neonatal intensive care unit. Participants: infants with PNAC (plasma-conjugated bilirubin concentration ≥34 µmol/l or 2 mg/dl) expected to be PN-dependent for &gt;2 weeks. Intervention: to receive either FOLP or SLP at 1.5 g/kg/day. Primary outcome measure: reversal of PNAC within 4 months after commencement of lipid treatment; secondary outcomes: rate of change of weekly liver function tests, infant growth parameters, blood lipid profile and episodes of late-onset sepsis. <b><i>Results:</i></b> A total of 9 infants were randomised to the FOLP group and 7 to the SLP group. There was no significant difference in reversal of PNAC at 4 months between groups. Rates of increase of plasma-conjugated bilirubin and alanine aminotransferase in the SLP group were significantly greater than the FOLP group (13.5 vs. 0.6 µmol/l per week and 9.1 vs. 1.1 IU/l per week, respectively, p = 0.03). Increased enteral nutrition was associated with significant improvement of PNAC in infants receiving FOLP compared with SLP (-8.5 vs. -1.6 µmol/l per 10% increase in enteral nutrition, respectively). The study was terminated prematurely. <b><i>Conclusions:</i></b> progression of PNAC in PN-dependent infants can be halted by replacing SLP with FOLP and reversed by increasing the proportion of enteral nutrition in infants receiving FOLP. Replacement of SLP with FOLP in PN-dependent infants who develop PNAC may be considered.
DOI: 10.6084/m9.figshare.5126152.v1
title: Supplementary Material for: A Progress Report of the IFCC Committee for Standardization of Thyroid Function Tests

description: <b><i>Background:</i></b> The IFCC Committee for Standardization of Thyroid Function Tests aims at equivalence of laboratory test results for free thyroxine (FT4) and thyrotropin (TSH).<b><i> Objectives:</i></b> This report describes the phase III method comparison study with clinical samples representing a broad spectrum of thyroid disease. The objective was to expand the feasibility work and explore the impact of standardization/harmonization in the clinically relevant concentration range. <b><i>Methods:</i></b> Two sets of serum samples (74 for FT4, 94 for TSH) were obtained in a clinical setting. Eight manufacturers participated in the study (with 13 FT4 and 14 TSH assays). Targets for FT4 were set by the international conventional reference measurement procedure of the IFCC; those for TSH were based on the all-procedure trimmed mean. The manufacturers recalibrated their assays against these targets. <b><i>Results:</i></b> All FT4 assays were negatively biased in the mid- to high concentration range, with a maximum interassay discrepancy of approximately 30%. However, in the low range, the maximum deviation was approximately 90%. For TSH, interassay comparability was reasonable in the mid-concentration range, but worse in the pathophysiological ranges. Recalibration was able to eliminate the interassay differences, so that the remaining dispersion of the data was nearly entirely due to within-assay random error components. The impact of recalibration on the numerical results was particularly high for FT4. <b><i>Conclusions:</i></b> Standardization and harmonization of FT4 and TSH measurements is feasible from a technical point of view. Because of the impact on the numerical values, the implementation needs careful preparation with the stakeholders.
DOI: 10.6084/m9.figshare.5126146
title: Supplementary Material for: Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

description: <b><i>Purpose:</i></b> To identify the associations of the two complement factor I (CFI) polymorphisms <i>rs10033900</i> and <i>rs2285714</i> with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study. <b><i>Methods:</i></b> A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of <i>rs10033900</i> and <i>rs2285714</i> were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ<sup>2</sup> test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of <i>rs10033900</i> and <i>rs2285714</i> based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described. <b><i>Results:</i></b> No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p &gt; 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, <i>rs10033900</i> = 0.814, p <i>rs10033900</i> &lt; 0.001; OR <i>rs2285714</i> = 1.221, p <i>rs2285714</i> &lt; 0.001). For <i>rs2285714</i>, the results of the meta-analysis were less reliable due to its heterogeneity. <b><i>Conclusions:</i></b> In our case-control study, neither of the two SNPs most studied (<i>rs10033900</i> or <i>rs2285714</i>) in the <i>CFI</i> gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the <i>CFI</i> gene and AMD.
DOI: 10.6084/m9.figshare.5126134
title: Supplementary Material for: Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature

description: <b><i>Background:</i></b> Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in <i>KCNJ5</i> have been identified. FH-III has a wide phenotypic variability from spironolactone-responsive hyperaldosteronism to massive adrenal hypertrophy with drug-resistant hypertension. This variation has mainly been attributed to genotype, because, in contrast to other genotypes (G151R, T158A, I157S, and Y152C), (1) FH-III patients with G151E have shown milder phenotype, and (2) G151E-harboring cells were found to have rapid lethality due to much larger sodium conductance of the encoded channel (Kir3.4), which prevents adrenal hypertrophy. <b><i>Methods:</i></b> Here we describe the clinical course of a sporadic case of FH-III, with de novo G151R mutation. <b><i>Results:</i></b> The patient developed polyuria at around 1.5 years of age and developed hypertension and hypokalemia by 4 years of age. Thereafter, spironolactone treatment successfully ameliorated hyperaldosteronism for 7 years with no discernible adrenal enlargement. <b><i>Conclusion:</i></b> Diverse clinical severity in FH-III cannot be defined solely by <i>KCNJ5</i> genotype.
DOI: 10.6084/m9.figshare.5126137
title: Supplementary Material for: Cytokines in Tears during the Secondary Keratoconjunctival Responses Induced by Allergic Reaction in the Nasal Mucosa

description: <b><i>Background:</i></b> Allergic keratoconjunctivitis (KC) can occur in a primary form due to an allergic reaction taking place in the conjunctivae or in a secondary form induced by nasal allergy. <b><i>Objectives:</i></b> To search for the cytokine changes in tears accompanying the secondary keratoconjunctival response types (SKCR), caused by the nasal allergy. <b><i>Methods:</i></b> In 43 KC patients developing 15 immediate (SIKCR), 16 late (SLKCR) and 12 delayed (SDYKCR) responses to nasal provocation tests with allergens (NPT), the NPTs were repeated with subsequent recording of cytokine concentrations in tears up to 72 h. <b><i>Results:</i></b> The SIKCRs (p &lt; 0.001), occurring 10-120 min after the NPT, were accompanied by significant changes (p &lt; 0.05) of interleukin (IL)-4, IL-6, IL-10, IL-12p70 and granulocyte-macrophage colony-stimulating factor (GM-CSF). The SLKCRs (p &lt; 0.01), appearing 5-12 h after the NPT, were associated with significant changes (p &lt; 0.05) of IL-3, IL-4, IL-5, IL-8, IL-10, tumor necrosis factor (TNF)-α, GM-CSF and granulocyte colony-stimulating factor. The SDYKCRs (p &lt; 0.01), occurring 24-48 h after the NPT, were accompanied by significant changes (p &lt; 0.05) of IL-2, IL-8, IL-10, interferon-γ, transforming growth factor-β and TNF-α. <b><i>Conclusions:</i></b> The particular SKCR types, induced by an allergic reaction in the nasal mucosa, were accompanied by different cytokine profiles in the tears, suggesting involvement of different hypersensitivity mechanisms. These results also stress the diagnostic usefulness of NPTs combined with monitoring of ocular features in KC patients who did not respond satisfactorily to the topical ophthalmological treatment.
DOI: 10.6084/m9.figshare.5126140
title: Supplementary Material for: Dialysis Hypotension: A Role for Inadequate Increase in Arginine Vasopressin Levels? A Systematic Literature Review and Meta-Analysis

description: <b><i>Background:</i></b> Intradialytic hypotension is a common complication of hemodialysis (HD). Some studies have suggested that inadequate arginine vasopressin (AVP) increase could play a role in the pathogenesis of intradialytic hypotension. However, AVP levels during HD and its relation to hypotension has never been systematically studied. <b><i>Summary:</i></b> PubMed and Embase were searched (1970-2013, search terms ‘vasopressin' and ‘hemodialysis') for studies reporting on AVP levels during standard HD or other dialysis techniques. Observational studies reporting on AVP levels pre- and postdialysis were additionally included in a meta-analysis. Thirty-seven studies were included in the systematic literature review, of which 26 studies were eligible for meta-analysis. The main findings were that pretreatment AVP levels were higher in dialysis patients compared with healthy controls (6.4 ± 3.5 vs. 2.5 ± 1.3 pg/ml, p = 0.003) and that plasma AVP levels showed little or no increase during HD (from 7.0 ± 4.9 to 8.8 ± 9.3, p = 0.433)<i>.</i> Significant heterogeneity was found between studies. Meta-regression analysis revealed no significant associations between AVP and patient or study characteristics. Studies on other dialysis techniques showed mixed results regarding the AVP course. The eight studies that addressed the relation between intradialytic hypotension and AVP also showed inconsistent results. <b><i>Key Messages:</i></b> Plasma AVP levels are higher in dialysis patients compared with healthy controls, but show little or no increase during HD. The lack of a rise in AVP levels during HD may be pathophysiologically involved in the onset of intradialytic hypotension, but firm conclusions are not possible from our review of the literature.
DOI: 10.6084/m9.figshare.5126131
title: Supplementary Material for: Diagnostic Evaluation of Ocular Toxocariasis Using High-Penetration Optical Coherence Tomography

description: <b><i>Purpose:</i></b> To study a case with intraretinal <i>Toxocara</i> larvae in a granuloma using high-penetration optical coherence tomography (HP-OCT). <b><i>Methods:</i></b> A 50-year-old man, who was referred to our clinic with ocular toxocariasis, initially presented with granuloma formation in the retina. We followed the treatment-associated changes in the toxocariasis lesion by a series of examinations using HP-OCT before and after a systemic corticosteroid and anthelmintic therapy. <b><i>Results:</i></b> The posterior pole granuloma initially appeared as a yellowish-white intraretinal lesion with an exudative focus and dye leakage seen on angiography. After therapy, the lesion was no longer exudative. During treatment-free periods, an intraretinal lesion was seen protruding from the retinal surface into the vitreous cavity. HP-OCT confirmed the elevated lesion protruding from the retinal surface into the vitreous cavity. With treatment, the protruding focus flattened during the following 8 months, but the lesion recurred after the treatment stopped. <b><i>Conclusions:</i></b> The findings and clinical course strongly suggested ocular toxocariasis. The protruding retinal lesion may have been an ocular manifestation of toxocariasis. HP-OCT was useful in the follow-up and diagnosis.
DOI: 10.6084/m9.figshare.5126134.v1
title: Supplementary Material for: Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature

description: <b><i>Background:</i></b> Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in <i>KCNJ5</i> have been identified. FH-III has a wide phenotypic variability from spironolactone-responsive hyperaldosteronism to massive adrenal hypertrophy with drug-resistant hypertension. This variation has mainly been attributed to genotype, because, in contrast to other genotypes (G151R, T158A, I157S, and Y152C), (1) FH-III patients with G151E have shown milder phenotype, and (2) G151E-harboring cells were found to have rapid lethality due to much larger sodium conductance of the encoded channel (Kir3.4), which prevents adrenal hypertrophy. <b><i>Methods:</i></b> Here we describe the clinical course of a sporadic case of FH-III, with de novo G151R mutation. <b><i>Results:</i></b> The patient developed polyuria at around 1.5 years of age and developed hypertension and hypokalemia by 4 years of age. Thereafter, spironolactone treatment successfully ameliorated hyperaldosteronism for 7 years with no discernible adrenal enlargement. <b><i>Conclusion:</i></b> Diverse clinical severity in FH-III cannot be defined solely by <i>KCNJ5</i> genotype.
DOI: 10.6084/m9.figshare.5126146.v1
title: Supplementary Material for: Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

description: <b><i>Purpose:</i></b> To identify the associations of the two complement factor I (CFI) polymorphisms <i>rs10033900</i> and <i>rs2285714</i> with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study. <b><i>Methods:</i></b> A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of <i>rs10033900</i> and <i>rs2285714</i> were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ<sup>2</sup> test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of <i>rs10033900</i> and <i>rs2285714</i> based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described. <b><i>Results:</i></b> No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p &gt; 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, <i>rs10033900</i> = 0.814, p <i>rs10033900</i> &lt; 0.001; OR <i>rs2285714</i> = 1.221, p <i>rs2285714</i> &lt; 0.001). For <i>rs2285714</i>, the results of the meta-analysis were less reliable due to its heterogeneity. <b><i>Conclusions:</i></b> In our case-control study, neither of the two SNPs most studied (<i>rs10033900</i> or <i>rs2285714</i>) in the <i>CFI</i> gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the <i>CFI</i> gene and AMD.
DOI: 10.6084/m9.figshare.5126128
title: Supplementary Material for: Intracranial Stenosis: Impact of Randomized Trials on Treatment Preferences of US Neurologists and Neurointerventionists

description: <b><i>Background and Purpose:</i></b> Medical and endovascular treatment options for stroke prevention in patients with symptomatic intracranial stenosis have evolved over the past several decades, but the impact of 2 major multicenter randomized stroke prevention trials on physician practices has not been studied. We sought to determine changes in US physician treatment choices for patients with intracranial atherosclerotic stenosis (ICAS) following 2 NIH-funded clinical trials that studied medical therapies (antithrombotic agents and risk factor control) and percutaneous transluminal angioplasty and stenting (PTAS). <b><i>Methods:</i></b> Anonymous surveys on treatment practices in patients with ICAS were sent to physicians at 3 time points: before publication of the NIH-funded Warfarin-Aspirin Symptomatic Intracranial Disease (WASID) trial (pre-WASID survey, 2004), 1 year after WASID publication (post-WASID survey, 2006) and 1 year after the publication of the NIH-funded Stenting and Aggressive Medical Management for Preventing Recurrent Stroke in Intracranial Stenosis (SAMMPRIS) trial (post-SAMMPRIS survey, 2012). Neurologists were invited to participate in the pre-WASID survey (n = 525). Neurologists and neurointerventionists were invited to participate in the post-WASID (n = 598) and post-SAMMPRIS (n = 2,080) surveys. The 3 surveys were conducted using web-based survey tools delivered by E-mail, and a fax-based response form delivered by E-mail and conventional mail. Data were analyzed using the χ<sup>2</sup> test. <b><i>Results:</i></b> Before WASID, there was equipoise between warfarin and aspirin for stroke prevention in patients with ICAS. The number of respondents who recommended antiplatelet treatment for ICAS increased across all 3 surveys for both anterior circulation (pre-WASID = 44%, post-WASID = 85%, post-SAMMPRIS = 94%) and posterior circulation (pre-WASID = 36%, post-WASID = 74%, post-SAMMPRIS = 83%). The antiplatelet agent most commonly recommended after WASID was aspirin, but after SAMMPRIS it was the combination of aspirin and clopidogrel. The percentage of neurologists who recommended PTAS in &gt;25% of ICAS patients increased slightly from pre-WASID (8%) to post-WASID surveys (12%), but then decreased again after SAMMPRIS (6%). The percentage of neurointerventionists who recommended PTAS in &gt;25% of ICAS patients decreased from post-WASID (49%) to post-SAMMPRIS surveys (17%). <b><i>Conclusions:</i></b> The surveyed US physicians' recommended treatments for ICAS differed over the 3 survey periods, reflecting the results of the 2 NIH-funded clinical trials of ICAS and suggesting that these clinical trials changed practice in the USA.
DOI: 10.6084/m9.figshare.5126137.v1
title: Supplementary Material for: Cytokines in Tears during the Secondary Keratoconjunctival Responses Induced by Allergic Reaction in the Nasal Mucosa

description: <b><i>Background:</i></b> Allergic keratoconjunctivitis (KC) can occur in a primary form due to an allergic reaction taking place in the conjunctivae or in a secondary form induced by nasal allergy. <b><i>Objectives:</i></b> To search for the cytokine changes in tears accompanying the secondary keratoconjunctival response types (SKCR), caused by the nasal allergy. <b><i>Methods:</i></b> In 43 KC patients developing 15 immediate (SIKCR), 16 late (SLKCR) and 12 delayed (SDYKCR) responses to nasal provocation tests with allergens (NPT), the NPTs were repeated with subsequent recording of cytokine concentrations in tears up to 72 h. <b><i>Results:</i></b> The SIKCRs (p &lt; 0.001), occurring 10-120 min after the NPT, were accompanied by significant changes (p &lt; 0.05) of interleukin (IL)-4, IL-6, IL-10, IL-12p70 and granulocyte-macrophage colony-stimulating factor (GM-CSF). The SLKCRs (p &lt; 0.01), appearing 5-12 h after the NPT, were associated with significant changes (p &lt; 0.05) of IL-3, IL-4, IL-5, IL-8, IL-10, tumor necrosis factor (TNF)-α, GM-CSF and granulocyte colony-stimulating factor. The SDYKCRs (p &lt; 0.01), occurring 24-48 h after the NPT, were accompanied by significant changes (p &lt; 0.05) of IL-2, IL-8, IL-10, interferon-γ, transforming growth factor-β and TNF-α. <b><i>Conclusions:</i></b> The particular SKCR types, induced by an allergic reaction in the nasal mucosa, were accompanied by different cytokine profiles in the tears, suggesting involvement of different hypersensitivity mechanisms. These results also stress the diagnostic usefulness of NPTs combined with monitoring of ocular features in KC patients who did not respond satisfactorily to the topical ophthalmological treatment.