cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5125795
title: Supplementary Material for: Fat Mass- and Obesity-Associated (FTO) Gene and Antipsychotic-Induced Weight Gain: An Association Study

description: <b><i>Objectives:</i></b> Genetic variation in the fat mass- and obesity-associated gene (FTO) has been associated with obesity in the general population. In this study we have investigated these variants for association with antipsychotic-induced weight gain (AIWG). <b><i>Methods:</i></b> A total of 218 patients with chronic schizophrenia or schizoaffective disorder treated mostly with clozapine or olanzapine for up to 14 weeks were included in the study. We analyzed 4 polymorphisms in intron 1 of the FTO gene (rs1421085, rs8050136, rs9939609, rs9930506) for association with AIWG using ANCOVA. <b><i>Results:</i></b> No statistically significant associations were observed between the single nucleotide polymorphisms and AIWG. However, patients homozygous for the A-allele of rs9939609 gained numerically higher weight than the other genotypic groups (AA: 5.26 ± 6.7%; TA: 4.66 ± 5.6%; TT: 4.21 ± 5.3%). <b><i>Conclusion:</i></b> Our current observations suggest that the FTO gene variants investigated may not play a major role in AIWG.
DOI: 10.6084/m9.figshare.5125801.v1
title: Supplementary Material for: Perceptions regarding Genetic Testing in Populations at Risk for Nephropathy

description: <b><i>Background:</i></b> Population ancestry-based differences exist in genetic risk for many kidney diseases. Substantial debate remains regarding returning genetic test results to participants. African-Americans (AAs) and European-Americans (EAs) at risk for end-stage kidney disease were queried for views on the value and use of genetic testing in research. <b><i>Methods:</i></b> A standardized survey regarding attitudes toward genetic testing was administered to 130 individuals (64 AA, 66 EA) with first-degree relatives on dialysis. Fisher's exact test was used to assess differences in participant attitudes between population groups. <b><i>Results:</i></b> Mean (SD) age of surveyed AAs and EAs was 45.5 (12.8) and 50.5 (14.4) years, respectively (p = 0.04), with similar familial relationships (p = 0.22). AAs and EAs wished to know their test results if risk could be: (1) reduced by diet or exercise (100 and 98%, p = 0.99); (2) reduced by medical treatment (100 and 98%, p = 0.99), or (3) if no treatments were available (90 and 82%, p = 0.21). If informed they lacked a disease susceptibility variant, 87% of AAs and 88% of EAs would be extremely or pretty likely to inform family members (p = 0.84). If informed they had a disease susceptibility variant, 92% of AAs and 89% of EAs would be extremely or pretty likely to inform their family (p = 0.43). <b><i>Conclusions:</i></b> Attitudes toward obtaining and using genetic test results for disease in research contexts were similar in AAs and EAs at risk for end-stage kidney disease. A substantial majority would want information regardless of available treatments and would share the information with the family. These results have important implications for patient care, study design and the informed consent process.
DOI: 10.6084/m9.figshare.5125780.v1
title: Supplementary Material for: The Efficacy of Antidepressants on Overall Well-Being and Self-Reported Depression Symptom Severity in Youth: A Meta-Analysis

description: <b><i>Background:</i></b> Recent meta-analyses of the efficacy of second-generation antidepressants for youth have concluded that such drugs possess a statistically significant advantage over placebo in terms of clinician-rated depressive symptoms. However, no meta-analysis has included measures of quality of life, global mental health, self-esteem, or autonomy. Further, prior meta-analyses have not included self-reports of depressive symptoms. <b><i>Methods:</i></b> Studies were selected through searching Medline, PsycINFO, and the Cochrane Central Register for Controlled Trials databases as well as GlaxoSmithKline's online trial registry. We included self-reports of depressive symptoms and pooled measures of quality of life, global mental health, self-esteem, and autonomous functioning as a proxy for overall well-being. <b><i>Results:</i></b> We found a nonsignificant difference between second-generation antidepressants and placebo in terms of self-reported depressive symptoms (k = 6 trials, g = 0.06, p = 0.36). Further, pooled across measures of quality of life, global mental health, self-esteem, and autonomy, antidepressants yielded no significant advantage over placebo (k = 3 trials, g = 0.11, p = 0.13). <b><i>Discussion:</i></b> Though limited by a small number of trials, our analyses suggest that antidepressants offer little to no benefit in improving overall well-being among depressed children and adolescents.
DOI: 10.6084/m9.figshare.5125783.v1
title: Supplementary Material for: De novo Reciprocal Translocation t(5;6)(q13;q34) in Cattle: Cytogenetic and Molecular Characterization

description: The cytogenetic analysis of a phenotypically normal bull from the Marchigiana breed revealed the presence of an abnormal karyotype due to the presence of a very long chromosome. This finding, identified in all the metaphases observed, was associated with the 2n = 60, XY karyotype, suggesting the presence of a reciprocal translocation. RBG- banding analyses identified a de novo reciprocal translocation involving BTA5 and BTA6, t(5;6)(q13;q34), while FISH analyses using cattle-specific BACs as probes enabled the confirmation and narrowed down the breakpoint regions. Array-CGH analysis also established that neither deletions nor duplications were present in the regions including the breakpoints, nor were they present elsewhere in the genome, confirming the balanced state of the translocation.
DOI: 10.6084/m9.figshare.5125795.v1
title: Supplementary Material for: Fat Mass- and Obesity-Associated (FTO) Gene and Antipsychotic-Induced Weight Gain: An Association Study

description: <b><i>Objectives:</i></b> Genetic variation in the fat mass- and obesity-associated gene (FTO) has been associated with obesity in the general population. In this study we have investigated these variants for association with antipsychotic-induced weight gain (AIWG). <b><i>Methods:</i></b> A total of 218 patients with chronic schizophrenia or schizoaffective disorder treated mostly with clozapine or olanzapine for up to 14 weeks were included in the study. We analyzed 4 polymorphisms in intron 1 of the FTO gene (rs1421085, rs8050136, rs9939609, rs9930506) for association with AIWG using ANCOVA. <b><i>Results:</i></b> No statistically significant associations were observed between the single nucleotide polymorphisms and AIWG. However, patients homozygous for the A-allele of rs9939609 gained numerically higher weight than the other genotypic groups (AA: 5.26 ± 6.7%; TA: 4.66 ± 5.6%; TT: 4.21 ± 5.3%). <b><i>Conclusion:</i></b> Our current observations suggest that the FTO gene variants investigated may not play a major role in AIWG.
DOI: 10.6084/m9.figshare.5125771
title: Supplementary Material for: Cone Beam and Micro-Computed Tomography Validation of Manual Array Insertion for Minimally Invasive Cochlear Implantation

description: Delivering cochlear implants through a minimally invasive tunnel (1.8 mm in diameter) from the mastoid surface to the inner ear is referred to as direct cochlear access (DCA). Based on cone beam as well as micro-computed tomography imaging, this in vitro study evaluates the feasibility and efficacy of manual cochlear electrode array insertions via DCA. Free-fitting electrode arrays were inserted in 8 temporal bone specimens with previously drilled DCA tunnels. The insertion depth angle, procedural time, tunnel alignment as well as the inserted scala and intracochlear trauma were assessed. Seven of the 8 insertions were full insertions, with insertion depth angles higher than 520°. Three cases of atraumatic scala tympani insertion, 3 cases of probable basilar membrane rupture and 1 case of dislocation into the scala vestibuli were observed (1 specimen was damaged during extraction). Manual electrode array insertion following a DCA procedure seems to be feasible and safe and is a further step toward clinical application of image-guided otological microsurgery.
DOI: 10.6084/m9.figshare.5125777
title: Supplementary Material for: Significance of Histological Crescent Formation in Patients with Diffuse Proliferative Lupus Nephritis

description: <b><i>Background:</i></b> Although crescentic nephritis is not rare in diffuse proliferative lupus nephritis (DPLN), little is known about the clinicopathological features in DPLN with crescents worldwide. This study was undertaken to investigate the clinicopathological features and outcome of Chinese DPLN patients with different degrees of crescents. <b><i>Methods:</i></b> 520 DPLN patients with more than 10% histological crescents (cDPLN) were enrolled in this retrospective study. They were divided into three groups: group 1 (10%≤ crescents &lt;25%, n = 240), group 2 (25%≤ crescents &lt;50%, n = 160), and group 3 (crescents ≥50%, n = 120). Another 100 patients without histological crescents were enrolled as a control group. Clinicopathological features, treatment responses, and outcomes were compared among the four groups. <b><i>Results:</i></b> There were 450 (86.6%) females and 70 (13.4%) males with an average age of 31.7 ± 11.4 years. Compared with the control group, cDPLN patients had shorter lupus nephritis duration (20.7 ± 34.1 vs. 30.4 ± 48.9 months), higher prevalence of rapidly progressive glomerulonephritis syndrome (21.8%), and gross hematuria (26.7%). Laboratory findings indicated more severe hypoproteinemia, hyperlipidemia, and renal insufficiency; heavier proteinuria and microscopic hematuria; higher tubular injury parameters, and lower serological activity in crescentic groups. Histologically, cDPLN patients have severe glomerular and tubulointerstitial lesions as well as extensive leukocyte infiltration together with a lesser degree of immune complex deposition. The proportion of death, end-stage renal disease, and treatment failure correlates positively with the degree of histological crescents. <b><i>Conclusions:</i></b> cDPLN patients with acute onset and short disease duration mostly show severe renal manifestations, less extrarenal organ involvement, lower serological activity, serious capillary necrosis, severe tubulointerstitial inflammation, atrophy and fibrosis, prominent leukocyte infiltration, less glomerular immune complex deposition, poor treatment response, and worse renal outcome.
DOI: 10.6084/m9.figshare.5125774
title: Supplementary Material for: Separating the Contributions of Olivocochlear and Middle Ear Muscle Reflexes in Modulation of Distortion Product Otoacoustic Emission Levels

description: <b><i>Objectives:</i></b> Mediated by the medial olivocochlear system (MOCS), distortion product otoacoustic emission (DPOAE) levels are reduced by presentation of contralateral acoustic stimuli. Such acoustic signals can also evoke a middle ear muscle reflex (MEMR) that also attenuates recorded DPOAE levels. Our aim is to clearly differentiate these two inhibitory mechanisms and to analyze each separately, perhaps allowing the development of novel tests of hearing function. <b><i>Methods:</i></b> DPOAE were recorded in real time from chinchillas with normal auditory brainstem response thresholds and middle ear function. Amplitude reduction and its onset latency caused by contralateral presentation of intermittent narrow-band noise (NBN) were measured. Stapedius and tensor tympani muscle tendons were divided without disturbing the ossicular chain, and DPOAE testing was repeated. <b><i>Results:</i></b> Peak reduction of (2f<sub>1</sub> - f<sub>2</sub>) DPOAE levels occurred when the center frequency of contralateral NBN approximated the primary tone f<sub>2</sub>, indicating an f<sub>2</sub>-frequency-specific response. For a 4.5-kHz centered NBN, DPOAE (f<sub>2</sub> = 4.4 kHz) inhibition was 0.1 dB (p &lt; 0.001). This response remained present after tendon division, consistent with an MOCS origin. Low-frequency NBN (center frequency: 0.5 kHz) reduced otoacoustic emission levels (0.1 dB, p &lt; 0.001) across a wide range of DPOAE frequencies. This low-frequency response was abolished by division of the middle ear muscle tendons, clearly indicating MEMR involvement. <b><i>Conclusions:</i></b> Following middle ear muscle tendon division, DPOAE inhibition by contralateral stimuli approximating the primary tone f<sub>2</sub> persists, whereas responses evoked by lower contralateral frequencies are abolished. This distinguishes the different roles of the MOCS (f<sub>2</sub> frequency specific) and MEMR (low frequency only) in contralateral modulation of DPOAE. This analysis helps clarify the pathways involved in an objective test that might have clinical benefit in the testing of neonates.
DOI: 10.6084/m9.figshare.5125765
title: Supplementary Material for: Characterization of Fetal Cells from the Maternal Circulation by Microarray Gene Expression Analysis - Could the Extravillous Trophoblasts Be a Target for Future Cell-Based Non-Invasive Prenatal Diagnosis?

description: <b><i>Introduction:</i></b> Circulating fetal cells in maternal blood provide a tool for risk-free, non-invasive prenatal diagnosis. However, fetal cells in the maternal circulation are scarce, and to effectively isolate enough of them for reliable diagnostics, it is crucial to know which fetal cell type(s) should be targeted. <b><i>Materials and Methods:</i></b> Fetal cells were enriched from maternal blood by magnetic-activated cell sorting using the endothelial cell marker CD105 and identified by XY fluorescence in situ hybridization. Expression pattern was compared between fetal cells and maternal blood cells using stem cell microarray analysis. <b><i>Results:</i></b> 39 genes were identified as candidates for unique fetal cell markers. More than half of these are genes known to be expressed in the placenta, especially in extravillous trophoblasts (EVTs). Immunohistochemical staining of placental tissue confirmed CD105 staining in EVTs and 76% of fetal cells enriched by CD105 were found to be cytokeratin-positive. <b><i>Discussion:</i></b> The unique combination of mesodermal (CD105) and ectodermal (cytokeratin) markers in EVTs could be a potential marker set for cell enrichment of this cell type in maternal blood and could be the basis for future cell-based non-invasive prenatal diagnosis.
DOI: 10.6084/m9.figshare.5125768
title: Supplementary Material for: Understanding Medical Care of Transplant Recipients through Integrated Registry and Pharmacy Claims Data

description: <b><i>Background:</i></b> Limited data exist on medication use aside from immunosuppression among large samples of kidney transplant recipients. <b><i>Methods:</i></b> We examined a novel database wherein Organ Procurement and Transplantation Network (OPTN) registry data were linked to records from a US pharmaceutical claims clearinghouse (2005-2010 claims) to examine pharmaceutical care at the first transplant anniversary (n = 16,157). We quantified the use of the following medication types within ±60 days of the first-year OPTN report according to estimated glomerular filtration rate (eGFR): antihypertensives, lipid-lowering, bone and mineral, and anemia treatments. Adjusted associations of medication use with eGFR and other clinical factors were quantified by multivariate logistic regression. <b><i>Results:</i></b> Requirements for multiple antihypertensive agents rose with lower eGFR, with β-blockers comprising the most commonly used antihypertensive agent. The adjusted likelihood of vitamin D (adjusted odds ratio (aOR) 2.07, 95% CI 1.19-3.59) and especially erythrocyte-stimulating agents (aOR 19.94, 95% CI 7.01-56.00) rose in a graded manner to peak with eGFR &lt;15 versus &gt;90, whereas statin use was most common with eGFR 30-59 ml/min/1.73 m<sup>2</sup>. Black race was independently associated with increased use of all classes of antihypertensives and vitamin D, but lower adjusted statin use. Rapamycin-based immunosuppression was associated with increased use of statins and erythrocyte-stimulating agents. <b><i>Conclusions:</i></b> Integrated registry and pharmacy fill data provide a novel tool for pharmacoepidemiologic investigations of delivered post-transplant care. Transplant recipients with reduced renal function have increased requirements for pharmaceutical care of comorbidities. Causes of racial variation in medication fills warrant further investigation.
DOI: 10.6084/m9.figshare.5125771.v1
title: Supplementary Material for: Cone Beam and Micro-Computed Tomography Validation of Manual Array Insertion for Minimally Invasive Cochlear Implantation

description: Delivering cochlear implants through a minimally invasive tunnel (1.8 mm in diameter) from the mastoid surface to the inner ear is referred to as direct cochlear access (DCA). Based on cone beam as well as micro-computed tomography imaging, this in vitro study evaluates the feasibility and efficacy of manual cochlear electrode array insertions via DCA. Free-fitting electrode arrays were inserted in 8 temporal bone specimens with previously drilled DCA tunnels. The insertion depth angle, procedural time, tunnel alignment as well as the inserted scala and intracochlear trauma were assessed. Seven of the 8 insertions were full insertions, with insertion depth angles higher than 520°. Three cases of atraumatic scala tympani insertion, 3 cases of probable basilar membrane rupture and 1 case of dislocation into the scala vestibuli were observed (1 specimen was damaged during extraction). Manual electrode array insertion following a DCA procedure seems to be feasible and safe and is a further step toward clinical application of image-guided otological microsurgery.
DOI: 10.6084/m9.figshare.5125774.v1
title: Supplementary Material for: Separating the Contributions of Olivocochlear and Middle Ear Muscle Reflexes in Modulation of Distortion Product Otoacoustic Emission Levels

description: <b><i>Objectives:</i></b> Mediated by the medial olivocochlear system (MOCS), distortion product otoacoustic emission (DPOAE) levels are reduced by presentation of contralateral acoustic stimuli. Such acoustic signals can also evoke a middle ear muscle reflex (MEMR) that also attenuates recorded DPOAE levels. Our aim is to clearly differentiate these two inhibitory mechanisms and to analyze each separately, perhaps allowing the development of novel tests of hearing function. <b><i>Methods:</i></b> DPOAE were recorded in real time from chinchillas with normal auditory brainstem response thresholds and middle ear function. Amplitude reduction and its onset latency caused by contralateral presentation of intermittent narrow-band noise (NBN) were measured. Stapedius and tensor tympani muscle tendons were divided without disturbing the ossicular chain, and DPOAE testing was repeated. <b><i>Results:</i></b> Peak reduction of (2f<sub>1</sub> - f<sub>2</sub>) DPOAE levels occurred when the center frequency of contralateral NBN approximated the primary tone f<sub>2</sub>, indicating an f<sub>2</sub>-frequency-specific response. For a 4.5-kHz centered NBN, DPOAE (f<sub>2</sub> = 4.4 kHz) inhibition was 0.1 dB (p &lt; 0.001). This response remained present after tendon division, consistent with an MOCS origin. Low-frequency NBN (center frequency: 0.5 kHz) reduced otoacoustic emission levels (0.1 dB, p &lt; 0.001) across a wide range of DPOAE frequencies. This low-frequency response was abolished by division of the middle ear muscle tendons, clearly indicating MEMR involvement. <b><i>Conclusions:</i></b> Following middle ear muscle tendon division, DPOAE inhibition by contralateral stimuli approximating the primary tone f<sub>2</sub> persists, whereas responses evoked by lower contralateral frequencies are abolished. This distinguishes the different roles of the MOCS (f<sub>2</sub> frequency specific) and MEMR (low frequency only) in contralateral modulation of DPOAE. This analysis helps clarify the pathways involved in an objective test that might have clinical benefit in the testing of neonates.
DOI: 10.6084/m9.figshare.5125777.v1
title: Supplementary Material for: Significance of Histological Crescent Formation in Patients with Diffuse Proliferative Lupus Nephritis

description: <b><i>Background:</i></b> Although crescentic nephritis is not rare in diffuse proliferative lupus nephritis (DPLN), little is known about the clinicopathological features in DPLN with crescents worldwide. This study was undertaken to investigate the clinicopathological features and outcome of Chinese DPLN patients with different degrees of crescents. <b><i>Methods:</i></b> 520 DPLN patients with more than 10% histological crescents (cDPLN) were enrolled in this retrospective study. They were divided into three groups: group 1 (10%≤ crescents &lt;25%, n = 240), group 2 (25%≤ crescents &lt;50%, n = 160), and group 3 (crescents ≥50%, n = 120). Another 100 patients without histological crescents were enrolled as a control group. Clinicopathological features, treatment responses, and outcomes were compared among the four groups. <b><i>Results:</i></b> There were 450 (86.6%) females and 70 (13.4%) males with an average age of 31.7 ± 11.4 years. Compared with the control group, cDPLN patients had shorter lupus nephritis duration (20.7 ± 34.1 vs. 30.4 ± 48.9 months), higher prevalence of rapidly progressive glomerulonephritis syndrome (21.8%), and gross hematuria (26.7%). Laboratory findings indicated more severe hypoproteinemia, hyperlipidemia, and renal insufficiency; heavier proteinuria and microscopic hematuria; higher tubular injury parameters, and lower serological activity in crescentic groups. Histologically, cDPLN patients have severe glomerular and tubulointerstitial lesions as well as extensive leukocyte infiltration together with a lesser degree of immune complex deposition. The proportion of death, end-stage renal disease, and treatment failure correlates positively with the degree of histological crescents. <b><i>Conclusions:</i></b> cDPLN patients with acute onset and short disease duration mostly show severe renal manifestations, less extrarenal organ involvement, lower serological activity, serious capillary necrosis, severe tubulointerstitial inflammation, atrophy and fibrosis, prominent leukocyte infiltration, less glomerular immune complex deposition, poor treatment response, and worse renal outcome.
DOI: 10.6084/m9.figshare.5125756
title: Supplementary Material for: Supernumerary Isochromosome 1, idic(1)(p12), Leading to Tetrasomy 1q in Burkitt Lymphoma

description: Burkitt lymphoma (BL) is an aggressive mature B-cell neoplasm. The cytogenetic hallmark are <i>MYC</i>-involving translocations, most frequently as t(8;14)(q24;q32). Additional cytogenetic abnormalities are seen in the majority of cases. The most frequent additional aberration involves the long arm of chromosome 1, either as partial or complete trisomy 1q. A very rare additional aberration is a supernumerary isochromosome 1q, i(1)(q10), resulting in tetrasomy 1q. The biological significance of this aberration is unclear. We present a highly aggressive case of BL in a child with immature B-cell immunophenotype (IP) and supernumerary i(1)(q10). Diagnostic karyotyping showed 47,XY,+i(1)(q10),t(8;14)(q24;q32)[2]/47,idem,del(15)(q24)[21]/46,XY[2]. aCGH analysis detected a gain of 1p12qter and a loss of 15q22q25. FISH analysis confirmed the isodicentric chromosome 1, which has not previously been reported in BL. In the literature, supernumerary i(1)(q10) was found in 11 cases of which &gt;80% presented with immature B-cell IP and &gt;60% relapsed or died. Tetrasomy 1q resulting from supernumerary idic(1)(p12) or i(1)(q10) is a rare genetic event in BL and probably associated with immature B-cell IP. We propose that high amplification of genes on chromosome 1p12qter may contribute to the BL IP and disease progression.