cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.8990012
title: Additional file 1: of Gender differences in physical activity and sedentary behavior of Japanese primary school children during school cleaning time, morning recess and lunch recess

description: Table S1. Percentages of sedentary behavior and physical activity during school cleaning time by age group and gender. Table S2. Percentages of sedentary behavior and physical activity during morning recess time by age group and gender. Table S3. Percentages of sedentary behavior and physical activity during lunch recess time by age group and gender. (ZIP 104 kb)
DOI: 10.6084/m9.figshare.8990018.v1
title: Additional file 1: of A-to-I editing of Malacoherpesviridae RNAs supports the antiviral role of ADAR1 in mollusks

description: Multiple alignment of the A_deamin domain sequences used for the phylogenetic analysis. Species names are abbreviated according to Fig. 1. (ALN 37 kb)
DOI: 10.6084/m9.figshare.8990012.v1
title: Additional file 1: of Gender differences in physical activity and sedentary behavior of Japanese primary school children during school cleaning time, morning recess and lunch recess

description: Table S1. Percentages of sedentary behavior and physical activity during school cleaning time by age group and gender. Table S2. Percentages of sedentary behavior and physical activity during morning recess time by age group and gender. Table S3. Percentages of sedentary behavior and physical activity during lunch recess time by age group and gender. (ZIP 104 kb)
DOI: 10.6084/m9.figshare.8989988
title: Additional file 3: of Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson’s disease patients

description: Table S3. List of the top 5000 DMCs in L2PD, sPD, and uniquePD. (XLSX 2247 kb)
DOI: 10.6084/m9.figshare.8989988.v1
title: Additional file 3: of Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson’s disease patients

description: Table S3. List of the top 5000 DMCs in L2PD, sPD, and uniquePD. (XLSX 2247 kb)
DOI: 10.6084/m9.figshare.8989874
title: Additional file 6: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Likely benign CNVs detected by array-CGH in 50 children with ID/DD, ASD and MCA. (XLSX 14 kb)
DOI: 10.6084/m9.figshare.8989868
title: Additional file 5: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: CNVs of uncertain significance detected by array-CGH in 15 children with ID/DD, ASD and MCA (List 1), cnnLOH detected by CGHâ +â SNP microarrays in 8 children with ID/DD, ASD and MCA (List 2). (XLSX 17 kb)
DOI: 10.6084/m9.figshare.8989874.v1
title: Additional file 6: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Likely benign CNVs detected by array-CGH in 50 children with ID/DD, ASD and MCA. (XLSX 14 kb)
DOI: 10.6084/m9.figshare.8989862
title: Additional file 4: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Childrenâ s patients with two pathogenic/likely pathogenic CNVs. (XLSX 11 kb)
DOI: 10.6084/m9.figshare.8989868.v1
title: Additional file 5: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: CNVs of uncertain significance detected by array-CGH in 15 children with ID/DD, ASD and MCA (List 1), cnnLOH detected by CGHâ +â SNP microarrays in 8 children with ID/DD, ASD and MCA (List 2). (XLSX 17 kb)
DOI: 10.6084/m9.figshare.8989862.v1
title: Additional file 4: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Childrenâ s patients with two pathogenic/likely pathogenic CNVs. (XLSX 11 kb)
DOI: 10.6084/m9.figshare.8989856
title: Additional file 3: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Non-recurrent pathogenic/likely pathogenic CNVs detected by array-CGH in 26 children with ID/DD, ASD and MCA. (XLSX 14 kb)
DOI: 10.6084/m9.figshare.8989847
title: Additional file 2: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Recurrent pathogenic/likely pathogenic CNVs detected by array-CGH in 36 children with ID/DD, ASD and MCA. (XLSX 14 kb)
DOI: 10.6084/m9.figshare.8989856.v1
title: Additional file 3: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Non-recurrent pathogenic/likely pathogenic CNVs detected by array-CGH in 26 children with ID/DD, ASD and MCA. (XLSX 14 kb)
DOI: 10.6084/m9.figshare.8989847.v1
title: Additional file 2: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Recurrent pathogenic/likely pathogenic CNVs detected by array-CGH in 36 children with ID/DD, ASD and MCA. (XLSX 14 kb)
DOI: 10.6084/m9.figshare.8989841
title: Additional file 1: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Confirmation of chromosomal aberrations detected by G-banding karyotype in 32 children with ID/DD, ASD and MCA. (XLSX 12 kb)
DOI: 10.6084/m9.figshare.8989841.v1
title: Additional file 1: of The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

description: Confirmation of chromosomal aberrations detected by G-banding karyotype in 32 children with ID/DD, ASD and MCA. (XLSX 12 kb)
DOI: 10.6084/m9.figshare.8989832
title: MOESM1 of Flowers, leaves or both? How to obtain suitable images for automated plant identification

description: Additional file 1. Species list.
DOI: 10.6084/m9.figshare.8988350
title: The impact of cinacalcet in the mineral metabolism markers of patients on dialysis with severe secondary hyperparathyroidism

description: Abstract Introduction: Treating secondary hyperparathyroidism (SHPT), a common condition associated with death in patients with chronic kidney disease, is a challenge for nephrologists. Calcimimetics have allowed the introduction of drug therapies no longer based on phosphate binders and active vitamin D. This study aimed to assess the safety and effectiveness of cinacalcet in managing chronic dialysis patients with severe SHPT. Methods: This retrospective study included 26 patients [age: 52 ± 12 years; 55% females; time on dialysis: 54 (4-236) months] on hemodialysis (N = 18) or peritoneal dialysis (N = 8) with severe SHPT (intact parathyroid hormone (iPTH) level &gt; 600 pg/mL) and hyperphosphatemia and/or persistent hypercalcemia treated with cinacalcet. The patients were followed for 12 months. Their serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), and iPTH levels were measured at baseline and on days 30, 60, 90, 180, and 365. Results: Patients with hyperphosphatemia (57.7%), hypercalcemia (23%), or both (19.3%) with iPTH &gt; 600 pg/mL were prescribed cinacalcet. At the end of the study, decreases were observed in iPTH (1348 ± 422 vs. 440 ± 210 pg/mL; p &lt; 0.001), Ca (9.5 ± 1.0 vs. 9.1 ± 0.6 mg/dl; p = 0.004), P (6.0 ± 1.3 vs. 4.9 ± 1.1 mg/dl; p &lt; 0.001), and ALP (202 ± 135 vs. 155 ± 109 IU/L; p = 0.006) levels. Adverse events included hypocalcemia (26%) and digestive problems (23%). At the end of the study, 73% of the patients were on active vitamin D and cinacalcet. Three (11.5%) patients on peritoneal dialysis did not respond to therapy with cinacalcet, and their iPTH levels were never below 800 pg/mL. Conclusion: Cinacalcet combined with traditional therapy proved safe and effective and helped manage the mineral metabolism of patients with severe SHPT.
DOI: 10.6084/m9.figshare.8988350.v1
title: The impact of cinacalcet in the mineral metabolism markers of patients on dialysis with severe secondary hyperparathyroidism

description: Abstract Introduction: Treating secondary hyperparathyroidism (SHPT), a common condition associated with death in patients with chronic kidney disease, is a challenge for nephrologists. Calcimimetics have allowed the introduction of drug therapies no longer based on phosphate binders and active vitamin D. This study aimed to assess the safety and effectiveness of cinacalcet in managing chronic dialysis patients with severe SHPT. Methods: This retrospective study included 26 patients [age: 52 ± 12 years; 55% females; time on dialysis: 54 (4-236) months] on hemodialysis (N = 18) or peritoneal dialysis (N = 8) with severe SHPT (intact parathyroid hormone (iPTH) level &gt; 600 pg/mL) and hyperphosphatemia and/or persistent hypercalcemia treated with cinacalcet. The patients were followed for 12 months. Their serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), and iPTH levels were measured at baseline and on days 30, 60, 90, 180, and 365. Results: Patients with hyperphosphatemia (57.7%), hypercalcemia (23%), or both (19.3%) with iPTH &gt; 600 pg/mL were prescribed cinacalcet. At the end of the study, decreases were observed in iPTH (1348 ± 422 vs. 440 ± 210 pg/mL; p &lt; 0.001), Ca (9.5 ± 1.0 vs. 9.1 ± 0.6 mg/dl; p = 0.004), P (6.0 ± 1.3 vs. 4.9 ± 1.1 mg/dl; p &lt; 0.001), and ALP (202 ± 135 vs. 155 ± 109 IU/L; p = 0.006) levels. Adverse events included hypocalcemia (26%) and digestive problems (23%). At the end of the study, 73% of the patients were on active vitamin D and cinacalcet. Three (11.5%) patients on peritoneal dialysis did not respond to therapy with cinacalcet, and their iPTH levels were never below 800 pg/mL. Conclusion: Cinacalcet combined with traditional therapy proved safe and effective and helped manage the mineral metabolism of patients with severe SHPT.
DOI: 10.6084/m9.figshare.8988341
title: Secondary hemophagocytic syndrome after renal transplantation: two case-reports

description: ABSTRACT Hemophagocytic syndrome or hemophagocytic lymphohistiocytosis (HLH) is an infrequent and underdiagnosed condition caused by an overactive immune response, resulting in blood cells phagocytosis. After kidney transplantation (KTx), HLH is usually secondary (or reactive) to infectious and neoplastic processes and has a high mortality rate. No effective treatment is available for this condition. Usual procedures include detecting and treating the pathology triggering the immune system dysregulation, other than administration of intravenous human immunoglobulin (IVIG) and high doses of steroids, and plasmapheresis. The best protocol for maintenance immunosuppressive therapy is also unknown. This article presents two cases of post-KTx reactive HLH that underwent adjuvant IVIG treatment and obtained good clinical results. Despite the high morbidity and mortality associated with reactive HLH after KTx, the early and precise diagnosis and the administration of IVIG therapy along with the treatment of the triggering disease, was an effective strategy to control HLH.
DOI: 10.6084/m9.figshare.8988344
title: Effects of physical exercise in frail older adults: a systematic review

description: ABSTRACT Frailty is an unstable condition related to functional decline, which affects the individual’s interaction with the environment and may cause limitation in the activities of daily living and result in loss of autonomy. This study aimed to provide a theoretical background on the effects of physical exercise on frail older people. This is a systematic review of studies published between 2011 and 2016 in the Medline, PubMed, PEDro, SciELO and Lilacs databases. After data search, 12 articles were included in the investigation, which highlight the positive effects of physical exercise on frailty, emphasizing multicomponent training with regularity of two to three times a week. We can conclude that physical exercises bring beneficial effects to frail older people in terms of quality of life and physical and cognitive aspects.
DOI: 10.6084/m9.figshare.8988347
title: Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era

description: Abstract Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done. Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the risk of breast cancer. The identification of BRCA1, BRCA2 and PALB2 as proteins involved in DNA double-strand break repair by homologous recombination and of the impact of complete loss of BRCA1 or BRCA2 within tumors have allowed the development of novel therapeutic approaches for patients with germline or somatic mutations in said genes. Despite the advances, especially in the clinical use of PARP inhibitors, key gaps remain. Now, new roles for BRCA1 and BRCA2 are emerging and old concepts, such as the classical two-hit hypothesis for tumor suppression, have been questioned, at least for some BRCA functions. Here aspects regarding cancer predisposition, cellular functions, histological and genomic findings in BRCA and PALB2-related tumors will be presented, in addition to an up-to-date review of the evolution and challenges in the development and clinical use of PARP inhibitors.
DOI: 10.6084/m9.figshare.8988341.v1
title: Secondary hemophagocytic syndrome after renal transplantation: two case-reports

description: ABSTRACT Hemophagocytic syndrome or hemophagocytic lymphohistiocytosis (HLH) is an infrequent and underdiagnosed condition caused by an overactive immune response, resulting in blood cells phagocytosis. After kidney transplantation (KTx), HLH is usually secondary (or reactive) to infectious and neoplastic processes and has a high mortality rate. No effective treatment is available for this condition. Usual procedures include detecting and treating the pathology triggering the immune system dysregulation, other than administration of intravenous human immunoglobulin (IVIG) and high doses of steroids, and plasmapheresis. The best protocol for maintenance immunosuppressive therapy is also unknown. This article presents two cases of post-KTx reactive HLH that underwent adjuvant IVIG treatment and obtained good clinical results. Despite the high morbidity and mortality associated with reactive HLH after KTx, the early and precise diagnosis and the administration of IVIG therapy along with the treatment of the triggering disease, was an effective strategy to control HLH.
DOI: 10.6084/m9.figshare.8988344.v1
title: Effects of physical exercise in frail older adults: a systematic review

description: ABSTRACT Frailty is an unstable condition related to functional decline, which affects the individual’s interaction with the environment and may cause limitation in the activities of daily living and result in loss of autonomy. This study aimed to provide a theoretical background on the effects of physical exercise on frail older people. This is a systematic review of studies published between 2011 and 2016 in the Medline, PubMed, PEDro, SciELO and Lilacs databases. After data search, 12 articles were included in the investigation, which highlight the positive effects of physical exercise on frailty, emphasizing multicomponent training with regularity of two to three times a week. We can conclude that physical exercises bring beneficial effects to frail older people in terms of quality of life and physical and cognitive aspects.
DOI: 10.6084/m9.figshare.8988347.v1
title: Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era

description: Abstract Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done. Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the risk of breast cancer. The identification of BRCA1, BRCA2 and PALB2 as proteins involved in DNA double-strand break repair by homologous recombination and of the impact of complete loss of BRCA1 or BRCA2 within tumors have allowed the development of novel therapeutic approaches for patients with germline or somatic mutations in said genes. Despite the advances, especially in the clinical use of PARP inhibitors, key gaps remain. Now, new roles for BRCA1 and BRCA2 are emerging and old concepts, such as the classical two-hit hypothesis for tumor suppression, have been questioned, at least for some BRCA functions. Here aspects regarding cancer predisposition, cellular functions, histological and genomic findings in BRCA and PALB2-related tumors will be presented, in addition to an up-to-date review of the evolution and challenges in the development and clinical use of PARP inhibitors.
DOI: 10.6084/m9.figshare.8988338
title: Solitary pancreatic metastasis from breast cancer: case report and review of literature

description: ABSTRACT CONTEXT: Pancreatic metastases from primary malignant tumors at other sites are rare, constituting about 2% of the neoplasms that affect the pancreas. Pancreatic metastasis from breast cancer is extremely rare and difficult to diagnose, because its clinical and radiological presentation is similar to that of a primary pancreatic tumor. CASE REPORT: A 64-year-old female developed a lesion in the pancreatic tail 24 months after neoadjuvant therapy, surgery and adjuvant radiation therapy for right-side breast cancer (ductal carcinoma). She underwent distal pancreatectomy with splenectomy and left adrenalectomy, and presented an uneventful outcome. The immunohistochemical analysis on the surgical specimen suggested that the lesion originated from the breast. CONCLUSION: In cases of pancreatic lesions detected in patients with a previous history of breast neoplasm, the possibility of pancreatic metastasis should be carefully considered.
DOI: 10.6084/m9.figshare.8988329
title: Preoperative vitamin D deficiency is a risk factor for postoperative hypocalcemia in patients undergoing total thyroidectomy: retrospective cohort study

description: ABSTRACT BACKGROUND: The relationship between preoperative vitamin D deficiency and postoperative hypocalcemia in cases of total thyroidectomy (TT) is a matter of controversy and may vary according to geographical scenarios and populations. OBJECTIVE: The objective here was to evaluate whether preoperative vitamin D deficiency was associated with postoperative symptomatic hypocalcemia in a population in South America. DESIGN AND SETTING: Retrospective cohort study on data from all patients undergoing total thyroidectomy, with or without central compartment lymph node dissection, from January 2014 to December 2017, at the A. C. Camargo Cancer Center. METHODS: Patients with benign thyroid disease (Graves’ disease, multinodular goiter or hyperthyroidism) or thyroid cancer who underwent primary total thyroidectomy with or without central compartment lymph node dissection were included. The exclusion criteria were simultaneous parathyroidectomy and conditions that could affect serum calcium levels. The data collected included patient demographics, thyroid pathology, extent of the surgical procedure and complications. Information on preoperative and postoperative calcium, parathyroid hormone (PTH) and vitamin D levels were retrieved from the medical records. RESULTS: 1,347 patients were assessed and postoperative hypocalcemia was diagnosed in 284 patients (21%). The vitamin D levels were considered deficient in 243 patients (18%). Postoperative hypocalcemia was diagnosed in 357 patients (31.5%). Multivariate analysis showed that central compartment dissection and preoperative total calcium and deficient vitamin D levels were significant risk factors for postoperative hypocalcemia. CONCLUSION: Deficient preoperative vitamin D levels were a significant risk factor for postoperative hypocalcemia. Preoperative oral supplementation should be considered, to minimize this risk.
DOI: 10.6084/m9.figshare.8988332
title: Brazilian multicenter study on pegvisomant treatment in acromegaly

description: ABSTRACT Objective Investigate the therapeutic response of acromegaly patients to pegvisomant (PEGV) in a real-life, Brazilian multicenter study. Subjects and methods Characteristics of acromegaly patients treated with PEGV were reviewed at diagnosis, just before and during treatment. All patients with at least two IGF-I measurements on PEGV were included. Efficacy was defined as any normal IGF-I measurement during treatment. Safety data were reviewed. Predictors of response were determined by comparing controlled versus uncontrolled patients. Results 109 patients [61 women; median age at diagnosis 34 years; 95.3% macroadenomas] from 10 Brazilian centers were studied. Previous treatment included surgery (89%), radiotherapy (34%), somatostatin receptor ligands (99%), and cabergoline (67%). Before PEGV, median levels of GH, IGF-I and IGF-I % of upper limit of normal were 4.3 µg/L, 613 ng/mL, and 209%, respectively. Pre-diabetes/diabetes was present in 48.6% and tumor remnant in 71% of patients. Initial dose was 10 mg/day in all except 4 cases, maximum dose was 30 mg/day, and median exposure time was 30.5 months. PEGV was used as monotherapy in 11% of cases. Normal IGF-I levels was obtained in 74.1% of patients. Glycemic control improved in 56.6% of patients with pre-diabetes/diabetes. Exposure time, pre-treatment GH and IGF-I levels were predictors of response. Tumor enlargement occurred in 6.5% and elevation of liver enzymes in 9.2%. PEGV was discontinued in 6 patients and 3 deaths unrelated to the drug were reported. Conclusions In a real-life scenario, PEGV is a highly effective and safe treatment for acromegaly patients not controlled with other therapies.
DOI: 10.6084/m9.figshare.8988338.v1
title: Solitary pancreatic metastasis from breast cancer: case report and review of literature

description: ABSTRACT CONTEXT: Pancreatic metastases from primary malignant tumors at other sites are rare, constituting about 2% of the neoplasms that affect the pancreas. Pancreatic metastasis from breast cancer is extremely rare and difficult to diagnose, because its clinical and radiological presentation is similar to that of a primary pancreatic tumor. CASE REPORT: A 64-year-old female developed a lesion in the pancreatic tail 24 months after neoadjuvant therapy, surgery and adjuvant radiation therapy for right-side breast cancer (ductal carcinoma). She underwent distal pancreatectomy with splenectomy and left adrenalectomy, and presented an uneventful outcome. The immunohistochemical analysis on the surgical specimen suggested that the lesion originated from the breast. CONCLUSION: In cases of pancreatic lesions detected in patients with a previous history of breast neoplasm, the possibility of pancreatic metastasis should be carefully considered.