cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5241463
title: Erratum: Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

description: Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn girl with FA and VL (aplasia of the thumbs, cloacal atresia (urogenital sinus), tethered cord at L3/L4, muscular ventricular septum defect, and horseshoe-kidney with a single ureter) who simultaneously acquired an epithelial-type WT in the left portion of the kidney and a poorly differentiated adrenal NB in infancy. A novel homozygous germline frameshift mutation in <i>PALB2</i> (c.1676_c1677delAAinsG) leading to protein truncation (pGln526ArgfsX1) inherited from consanguineous parents formed the genetic basis of FA-N. Spontaneous and induced chromosomal instability was detected in the majority of cells analyzed from peripheral lymphocytes, bone marrow, and cultured fibroblasts. Bone marrow cells also showed complex chromosome rearrangements consistent with the myelodysplastic syndrome at 11 months of age. Array-comparative genomic hybridization analyses of both WT and NB showed shared gains or amplifications within the chromosomal regions 11p15.5 and 17q21.31-q25.3, including genes that are reportedly implicated in tumor development such as <i>IGF2</i>, <i>H19, WT2</i>, <i>BIRC5,</i> and <i>HRAS.</i>
DOI: 10.6084/m9.figshare.5241466
title: Erratum: Functional Recovery of Human Cells Harbouring the Mitochondrial DNA Mutation MERRF <b><i>A8344G</i></b> via Peptide-Mediated Mitochondrial Delivery

description: We explored the feasibility of mitochondrial therapy using the cell-penetrating peptide Pep-1 to transfer mitochondrial DNA (mtDNA) between cells and rescue a cybrid cell model of the mitochondrial disease myoclonic epilepsy with ragged-red fibres (MERRF) syndrome. Pep-1-conjugated wild-type mitochondria isolated from parent cybrid cells incorporating a mitochondria-specific tag were used as donors for mitochondrial delivery into MERRF cybrid cells (MitoB2) and mtDNA-depleted Rho-zero cells (Mitoρ°). Forty-eight hours later, translocation of Pep-1-labelled mitochondria into the mitochondrial regions of MitoB2 and Mitoρ° host cells was observed (delivery efficiencies of 77.48 and 82.96%, respectively). These internalized mitochondria were maintained for at least 15 days in both cell types and were accompanied by mitochondrial function recovery and cell survival by preventing mitochondria-dependent cell death. Mitochondrial homeostasis analyses showed that peptide-mediated mitochondrial delivery (PMD) also increased mitochondrial biogenesis in both cell types, but through distinct regulatory pathways involving mitochondrial dynamics. Dramatic decreases in mitofusin-2 (MFN2) and dynamin-related protein 1/fission 1 were observed in MitoB2 cells, while Mitoρ° cells showed a significant increase in optic atrophy 1 and MFN2. These findings suggest that PMD can be used as a potential therapeutic intervention for mitochondrial disorders.
DOI: 10.6084/m9.figshare.5241454
title: Erratum: Development of a Refined Tenocyte Differentiation Culture Technique for Tendon Tissue Engineering

description: We have established that human tenocytes can differentiate in the absence of exogenous fetal bovine serum (FBS) but in the presence of insulin-like growth factor-1 (IGF-1) and transforming growth factor-β<sub>3</sub> (TGF-β<sub>3</sub>). The extent of tenocyte differentiation was assessed by examining cell survival, collagen synthesis, cell morphology and expression of tenocyte differentiation markers such as scleraxis (Scx), tenomodulin (Tnmd), collagen type I (Col-I) and decorin (Dcn). Our results indicate that 50 ng/ml IGF-1 and 10 ng/ml TGF-β<sub>3</sub> (in the absence of FBS) were capable of maintaining in vitro human tenocyte survival in 14-day cultures. The extent of collagen synthesis and messenger ribonucleic acid expression of Scx, Tnmd, Col-I and Dcn were significantly upregulated in response to IGF-1 and TGF-β<sub>3</sub>. These findings have shown for the first time that human tenocytes can be maintained in long-term culture, in serum-free conditions, making this approach a suitable one for the purpose of tendon tissue engineering.
DOI: 10.6084/m9.figshare.5241457
title: Erratum: Decrease in Incidence of Bronchopulmonary Dysplasia with Erythropoietin Administration in Preterm Infants: A Retrospective Study

description: <b><i>Background:</i></b> Despite advances in clinical care, the incidence of bronchopulmonary dysplasia (BPD) remains high in premature infants. Erythropoietin (EPO) is used for the treatment of anemia of prematurity (AOP) to decrease blood transfusion needs. EPO has been shown to mobilize circulating endothelial progenitor cells and to enhance lung repair in animal models. <b><i>Objective:</i></b> To determine whether EPO treatment for AOP was associated with a reduced incidence of BPD in premature infants. <b><i>Methods:</i></b> This retrospective study was performed on all live-born neonates with birth weights from 500 to 1,500 g and gestational age (GA) from 22 to 32 weeks admitted from 1994 to 2002. Infants who received EPO and those who did not receive EPO were compared for incidence of BPD and other morbidities. <b><i>Results:</i></b> Of<b> </b>478 patients, 297 received EPO before 36 weeks’ postmenstrual age (group 1) and 181 did not receive EPO (group 2). Group 1 was of similar birth weight but lower GA than group 2. The incidence of BPD was lower in group 1 than group 2 (26 vs. 36%, p = 0.03); after adjusting for significant risk factors, the adjusted odds ratio for BPD was 0.50 (95% CI 0.32, 0.79), p = 0.0028. The BPD rate was much lower when EPO was initiated before 4 weeks of age (16%) as compared to later initiation (44%). <b><i>Conclusions:</i></b> This study shows an association between EPO treatment and reduced incidence of BPD in preterm infants, particularly when EPO treatment was initiated within the first 4 weeks of life.
DOI: 10.6084/m9.figshare.5241460
title: Erratum: Acid-Base and Electrolyte Abnormalities during Renal Support for Acute Kidney Injury: Recognition and Management

description: Acute kidney injury (AKI) is associated with electrolyte and acid-base disturbances such as hyperkalemia, metabolic acidosis, hypocalcemia and hyperphosphatemia. The initiation of dialysis in AKI can efficiently treat these complications. The choice of dialysis modality can be made based on their operational characteristics to tailor the therapy according to the clinical scenario. Each dialysis modality can also trigger significant electrolyte and acid-base disorders, such as hypokalemia, hypophosphatemia and metabolic alkalosis, which may direct changes in fluid delivery and composition. Continuous techniques may be particularly useful in these situations as they allow more time for correction and to maintain balance. This review provides an overview of the electrolyte and acid-base disturbances occurring in AKI and after the initiation of dialysis and discusses therapeutic options in this setting.
DOI: 10.6084/m9.figshare.5241466.v1
title: Erratum: Functional Recovery of Human Cells Harbouring the Mitochondrial DNA Mutation MERRF <b><i>A8344G</i></b> via Peptide-Mediated Mitochondrial Delivery

description: We explored the feasibility of mitochondrial therapy using the cell-penetrating peptide Pep-1 to transfer mitochondrial DNA (mtDNA) between cells and rescue a cybrid cell model of the mitochondrial disease myoclonic epilepsy with ragged-red fibres (MERRF) syndrome. Pep-1-conjugated wild-type mitochondria isolated from parent cybrid cells incorporating a mitochondria-specific tag were used as donors for mitochondrial delivery into MERRF cybrid cells (MitoB2) and mtDNA-depleted Rho-zero cells (Mitoρ°). Forty-eight hours later, translocation of Pep-1-labelled mitochondria into the mitochondrial regions of MitoB2 and Mitoρ° host cells was observed (delivery efficiencies of 77.48 and 82.96%, respectively). These internalized mitochondria were maintained for at least 15 days in both cell types and were accompanied by mitochondrial function recovery and cell survival by preventing mitochondria-dependent cell death. Mitochondrial homeostasis analyses showed that peptide-mediated mitochondrial delivery (PMD) also increased mitochondrial biogenesis in both cell types, but through distinct regulatory pathways involving mitochondrial dynamics. Dramatic decreases in mitofusin-2 (MFN2) and dynamin-related protein 1/fission 1 were observed in MitoB2 cells, while Mitoρ° cells showed a significant increase in optic atrophy 1 and MFN2. These findings suggest that PMD can be used as a potential therapeutic intervention for mitochondrial disorders.
DOI: 10.6084/m9.figshare.5241451
title: Erratum: Competing Risks Model in Early Screening for Preeclampsia by Biophysical and Biochemical Markers

description: <b><i>Objective:</i></b> To develop models for prediction of preeclampsia (PE) based on maternal characteristics, biophysical and biochemical markers at 11–13 weeks’ gestation in which the gestation at the time of delivery for PE is treated as a continuous variable. <b><i>Methods:</i></b> This was a screening study of singleton pregnancies at 11–13 weeks including 1,426 (2.4%) that subsequently developed PE and 57,458 that were unaffected by PE. We developed a survival time model for the time of delivery for PE in which Bayes’ theorem was used to combine the prior information from maternal characteristics with uterine artery pulsatility index (PI), mean arterial pressure (MAP), serum pregnancy-associated plasma protein-A (PAPP-A) and placental growth factor (PLGF) multiple of the median (MoM) values. <b><i>Results:</i></b> In pregnancies with PE, there was a linear correlation between MoM values of uterine artery PI, MAP, PAPP-A and PLGF with gestational age at delivery and therefore the deviation from normal was greater for early than late PE for all four biomarkers. Screening by maternal characteristics, biophysical and biochemical markers detected 96% of cases of PE requiring delivery before 34 weeks and 54% of all cases of PE at a fixed false-positive rate of 10%. <b><i>Conclusions:</i></b> A new model has been developed for effective first-trimester screening for PE.
DOI: 10.6084/m9.figshare.5241463.v1
title: Erratum: Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

description: Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn girl with FA and VL (aplasia of the thumbs, cloacal atresia (urogenital sinus), tethered cord at L3/L4, muscular ventricular septum defect, and horseshoe-kidney with a single ureter) who simultaneously acquired an epithelial-type WT in the left portion of the kidney and a poorly differentiated adrenal NB in infancy. A novel homozygous germline frameshift mutation in <i>PALB2</i> (c.1676_c1677delAAinsG) leading to protein truncation (pGln526ArgfsX1) inherited from consanguineous parents formed the genetic basis of FA-N. Spontaneous and induced chromosomal instability was detected in the majority of cells analyzed from peripheral lymphocytes, bone marrow, and cultured fibroblasts. Bone marrow cells also showed complex chromosome rearrangements consistent with the myelodysplastic syndrome at 11 months of age. Array-comparative genomic hybridization analyses of both WT and NB showed shared gains or amplifications within the chromosomal regions 11p15.5 and 17q21.31-q25.3, including genes that are reportedly implicated in tumor development such as <i>IGF2</i>, <i>H19, WT2</i>, <i>BIRC5,</i> and <i>HRAS.</i>
DOI: 10.6084/m9.figshare.5241454.v1
title: Erratum: Development of a Refined Tenocyte Differentiation Culture Technique for Tendon Tissue Engineering

description: We have established that human tenocytes can differentiate in the absence of exogenous fetal bovine serum (FBS) but in the presence of insulin-like growth factor-1 (IGF-1) and transforming growth factor-β<sub>3</sub> (TGF-β<sub>3</sub>). The extent of tenocyte differentiation was assessed by examining cell survival, collagen synthesis, cell morphology and expression of tenocyte differentiation markers such as scleraxis (Scx), tenomodulin (Tnmd), collagen type I (Col-I) and decorin (Dcn). Our results indicate that 50 ng/ml IGF-1 and 10 ng/ml TGF-β<sub>3</sub> (in the absence of FBS) were capable of maintaining in vitro human tenocyte survival in 14-day cultures. The extent of collagen synthesis and messenger ribonucleic acid expression of Scx, Tnmd, Col-I and Dcn were significantly upregulated in response to IGF-1 and TGF-β<sub>3</sub>. These findings have shown for the first time that human tenocytes can be maintained in long-term culture, in serum-free conditions, making this approach a suitable one for the purpose of tendon tissue engineering.
DOI: 10.6084/m9.figshare.5241445
title: Erratum: Brain Evolution across the Puerto Rican Anole Radiation

description: Patterns of brain evolution have been widely studied across vertebrates, with the bulk of studies using mammals and/or birds as model systems. Within these groups, species occupying different habitats have been shown to have divergent neuroanatomy, particularly with regard to differences in the relative size of different brain structures, correlated with differences in habitat complexity. We examined the pattern of allometric scaling across the telencephalon, dorsal cortex, dorsomedial cortex, medial cortex, dorsal ventricular ridge, medulla and cerebellum in six species of Puerto Rican <i>Anolis</i> lizards, which are grouped in three distinct ecomorphs (i.e. ecological types) according to interspecific differences in preferred habitat type. The differences in habitat preferences are accompanied by morphological and behavioral adaptations for effective use of each habitat type. Our results challenge this trend and demonstrate a lack of convergence in the relative size of different brain structures between species belonging to the same ecomorph type. Overall brain volume explained between 92.5 and 99.8% of the variance in the volume of each of the brain regions measured and 93.8 and 98.5% of the variance in the volume of each component measured within the telencephalon. This pattern of brain allometry is consistent with concerted brain evolution. However, in the case of the cerebellum, interspecific differences in volume exhibit a trend in accordance with mosaic brain evolution. This suggests that both concerted and mosaic brain evolution have shaped the anole brain, with the former playing a dominant role. Concerted brain evolution is the primary mechanism shaping the brain in mammals and cartilaginous fishes, and its presence in <i>Anolis</i> lizards provides additional evidence supporting the hypothesis that concerted brain evolution might result from a conserved pattern of brain development common to all vertebrates. More generally, our findings highlight the necessity of further studies of brain evolution in reptiles as they can provide valuable insights into the mechanisms underlying vertebrate brain evolution.
DOI: 10.6084/m9.figshare.5241448
title: Erratum: Prevalence, Pathophysiology, Health Consequences and Treatment Options of Obesity in the Elderly: A Guideline

description: The prevalence of obesity is rising progressively, even among older age groups. By the year 2030–2035 over 20% of the adult US population and over 25% of the Europeans will be aged 65 years and older. The predicted prevalence of obesity in Americans, 60 years and older was 37% in 2010. The predicted prevalence of obesity in Europe in 2015 varies between 20 and 30% dependent on the model used. This means 20.9 million obese 60+ people in the USA in 2010 and 32 million obese elders in 2015 in the EU. Although cut-off values of BMI, waist circumference and percentages of fat mass have not been defined for the elderly (nor for the elderly of different ethnicity), it is clear from several meta-analyses that mortality and morbidity associated with overweight and obesity only increases at a BMI above 30 kg/m<sup>2</sup>. Thus, treatment should only be offered to patients who are obese rather than overweight and who also have functional impairments, metabolic complications or obesity-related diseases, that can benefit from weight loss. The weight loss therapy should aim to minimize muscle and bone loss but also vigilance as regards the development of sarcopenic obesity – a combination of an unhealthy excess of body fat with a detrimental loss of muscle and fat-free mass including bone – is important in the elderly, who are vulnerable to this outcome. Life-style intervention should be the first step and consists of a diet with a 500 kcal (2.1 MJ) energy deficit and an adequate intake of protein of high biological quality together with calcium and vitamin D, behavioural therapy and multi-component exercise. Multi-component exercise includes flexibility training, balance training, aerobic exercise and resistance training. The adherence rate in most studies is around 75%. Knowledge of constraints and modulators of physical inactivity should be of help to engage the elderly in physical activity. The role of pharmacotherapy and bariatric surgery in the elderly is largely unknown as in most studies people aged 65 years and older have been excluded.
DOI: 10.6084/m9.figshare.5241457.v1
title: Erratum: Decrease in Incidence of Bronchopulmonary Dysplasia with Erythropoietin Administration in Preterm Infants: A Retrospective Study

description: <b><i>Background:</i></b> Despite advances in clinical care, the incidence of bronchopulmonary dysplasia (BPD) remains high in premature infants. Erythropoietin (EPO) is used for the treatment of anemia of prematurity (AOP) to decrease blood transfusion needs. EPO has been shown to mobilize circulating endothelial progenitor cells and to enhance lung repair in animal models. <b><i>Objective:</i></b> To determine whether EPO treatment for AOP was associated with a reduced incidence of BPD in premature infants. <b><i>Methods:</i></b> This retrospective study was performed on all live-born neonates with birth weights from 500 to 1,500 g and gestational age (GA) from 22 to 32 weeks admitted from 1994 to 2002. Infants who received EPO and those who did not receive EPO were compared for incidence of BPD and other morbidities. <b><i>Results:</i></b> Of<b> </b>478 patients, 297 received EPO before 36 weeks’ postmenstrual age (group 1) and 181 did not receive EPO (group 2). Group 1 was of similar birth weight but lower GA than group 2. The incidence of BPD was lower in group 1 than group 2 (26 vs. 36%, p = 0.03); after adjusting for significant risk factors, the adjusted odds ratio for BPD was 0.50 (95% CI 0.32, 0.79), p = 0.0028. The BPD rate was much lower when EPO was initiated before 4 weeks of age (16%) as compared to later initiation (44%). <b><i>Conclusions:</i></b> This study shows an association between EPO treatment and reduced incidence of BPD in preterm infants, particularly when EPO treatment was initiated within the first 4 weeks of life.
DOI: 10.6084/m9.figshare.5241442
title: Erratum: Imaging Cutaneous T-Cell Lymphoma with Optical Coherence Tomography

description: <b><i>Aim:</i></b> To investigate the presentation of a patch-stage cutaneous T-cell lymphoma (CTCL) using optical coherence tomography (OCT). <b><i>Methods:</i></b> A patient with a patch caused by CTCL was photographed digitally, OCT-scanned and biopsied. A normal skin area adjacent to the patch was OCT-scanned for comparison, but not biopsied. The OCT image and the histological image were compared. <b><i>Results:</i></b> The OCT images illustrated a thickened and hyperreflective stratum corneum. OCT also demonstrated several elongated hyporeflective structures in the dermis. The largest structure was measured to have a width of 0.13 mm. A good immediate correlation was found between histology and OCT imaging of the sample. <b><i>Conclusion:</i></b> The aetiology of the elongated structures is thought to be lymphomatous infiltrates. Similar findings have been described in ocular lymphoma and may therefore be an important characteristic of cutaneous lymphoma. It may further be speculated that the differences in OCT images may reflect the biological behaviour of the infiltrate. This observation therefore suggests that OCT imaging may be a relevant tool for the in vivo investigation of mycosis fungoides and other CTCLs, but in order to verify these observed patterns in OCT imaging, further investigations will be required.
DOI: 10.6084/m9.figshare.5241436
title: Erratum: Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without <b><i>PTPN11</i></b> Gene Mutation

description: <b><i>Background/Aims:</i></b> The objective of this study was to evaluate the efficacy of recombinant human growth hormone (rhGH) therapy and the influence of genotype on the response to rhGH therapy in children with Noonan syndrome (NS). <b><i>Methods:</i></b> 14 male and 4 female subjects with NS with short stature, whose height was &lt;3rd percentile, were included. The rhGH was subcutaneously administered at a dose of 66 µg/kg/day. Mutations in the <i>PTPN11</i> gene were identified in 10 subjects (55.6%). Mutations in the <i>SOS1 </i>(2 children, 11.1%), <i>MEK1 </i>(1 child, 5.6%) and <i>KRAS</i> (1 child, 5.6%) genes were also found. <b><i>Results:</i></b> Height SDS increased from –2.8 ± 0.9 at the start of rhGH therapy to –2.0 ± 0.9 12 months later (p &lt; 0.001). Height velocity increased from 5.0 ± 0.9 cm/year in the year before treatment to 8.9 ± 1.6 during treatment (p &lt; 0.001). Changes in height SDS, height velocity, and serum IGF-1 level did not differ significantly between those children with or without <i>PTPN11</i> mutations. <b><i>Conclusion:</i></b> The rhGH therapy significantly improved the growth velocity and increased the serum IGF-1 level. Long-term correlation between genotype and rhGH therapy responsiveness needs to be addressed in a large population.