bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetics of blood malignancies among Iranian population: an overview
Authors: Ghayour-Mobarhan Majid , Zangouei Amir Sadra , Hosseinirad Seyed Mohammad , Mojarrad Majid , Moghbeli Meysam 
Published: May 2020

Abstract
Background
Blood malignancies are among the leading causes of cancer related deaths in the world. Different environmental and genetic risk factors are involved in progression of blood malignancies. It has been shown that the lifestyle changes have affected the epidemiological patterns of these malignancies. Hematologic cancers are the 5th common cancer among Iranian population. It has been observed that there is a rising trend of blood malignancies incidences during the recent decades. Therefore, it is required to design novel diagnostic methods for the early detection of such malignancies in this population.

Main body
In present review we have summarized all of the significant genes which have been reported among Iranian patients with blood malignancies. The reported genes were categorized based on their cell and molecular functions to clarify the molecular biology and genetics of blood malignancies among Iranian patients.

Conclusion
It was observed that the epigenetic and immune response factors were the most frequent molecular processes associated with progression of blood malignancies among Iranian population. This review paves the way of introducing a population based panel of genetic markers for the early detection of blood malignancies in this population.
Clinical parameters predictive for sphincter-preserving surgery and prognostic outcome in patients with locally advanced low rectal cancer
Authors: Partl Richard , Magyar Marton , Hassler Eva , Langsenlehner Tanja , Kapp Karin Sigrid 
Published: May 2020

Abstract
Background
Although controversial, there are data suggesting that clinical parameters can predict the probability of sphincter preserving procedures in rectal cancer. The purpose of this study was to investigate the association between clinical parameters and the sphincter-preserving surgery rate in patients who had undergone neoadjuvant combination therapy for advanced low rectal cancer.

Methods
In this single center study, the charts of 540 patients with locally advanced rectal cancer who had been treated with induction chemotherapy-and/or neoadjuvant concomitant radiochemotherapy (nRCT) over an 11-year period were reviewed in order to identify patients with rectal cancer ≤6 cm from the anal verge, who had received the prescribed nRCT only. Univariate and multivariate analyses were used to identify pretreatment patient- and tumor associated parameters correlating with sphincter preservation. Survival rates were calculated using Kaplan-Meier analyses.

Results
Two hundred eighty of the 540 patients met the selection criteria. Of the 280 patients included in the study, 158 (56.4%) underwent sphincter-preserving surgery. One hundred sixty-four of 280 patients (58.6%) had a downsizing of the primary tumor (ypT < cT) and 39 (23.8%) of these showed a complete histopathological response (ypT0 ypN0). In univariate analysis, age prior to treatment, Karnofsky performance status, clinical T-size, relative lymphocyte value, CRP value, and interval between nRCT and surgery, were significantly associated with sphincter-preserving surgery. In multivariate analysis, age (hazard ratio (HR) = 1.05, CI95%: 1.02–1.09, p = 0.003), relative lymphocyte value (HR = 0.94, CI95%: 0.89–0.99, p = 0.029), and interval between nRCT and surgery (HR = 2.39, CI95%: 1.17–4.88, p = 0.016) remained as independent predictive parameters.

Conclusions
These clinical parameters can be considered in the prognostication of sphincter-preserving surgery in case of low rectal adenocarcinoma. More future research is required in this area.
Effects of ginsenosides on bone remodelling for novel drug applications: a review
Authors: Yang Nan , Liu Dingkun , Zhang Xiao , Li Jianing , Wang Mi , Xu Tongtong , Liu Zhihui 
Published: May 2020

Abstract
Background
Ginsenosides are pharmacologically active compounds that are often extracted from the Panax plant for their medicinal properties. Ginsenosides have multiple effects, including antitumor effects which have been widely studied. In recent years, studies have found that ginsenosides promote proliferation and osteogenesis of osteoblast-related cells, as well as inhibit the activity of osteoclasts.

Main body
We briefly introduces the molecules and BMP, WNT, and RANKL signalling pathways involved in bone formation and bone resorption. Next, recent studies on the mechanism of action of ginsenosides in bone remodelling are reviewed from three perspectives: the effects on proliferation of osteoblast-related cells, effects on osteogenesis and effects on osteoclasts. To expedite the development of drugs containing ginsenosides, we summarize the multiple beneficial roles of various types of ginsenosides in bone remodelling; including the promotion of bone formation, inhibition of bone resorption, and anti-inflammatory and antioxidant effects.

Conclusion
Many ginsenosides can promote bone formation and inhibit bone resorption, such as Rb1, Rb2 and Re. Ginsenosides have the potential to be new drugs for the treatment of osteoporosis, promote fracture healing and are strong candidates for cytokines in the tissue-engineered bone. This review provides a theoretical basis for clinical drug applications and proposes several future directions for exploring the beneficial role of ginseng compounds in bone remodelling.
Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years
Authors: Mongkollarp Nantiya , Tim-Aroon Thipwimol , Okascharoen Chusak , Wichajarn Khunton , Phosuwattanakul Jeeraparn , Chongviriyaphan Nalinee , Wattanasirichaigoon Duangrurdee 
Published: May 2020

Abstract
Background
Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in later childhood. Disease-specific growth charts have been recommended for monitoring PWS patients. Previous literature demonstrated growth differences among individuals with PWS of different ethnicity.

Methods
A retrospective multicenter study was performed in PWS patients from different areas of Thailand included collaboration with the Thai PWS support group during 2000–2017. Baseline characteristics and anthropometric data were reviewed. Both growth hormone and non-growth hormone received patients were included, but the data after receiving GH were excluded before curve construction. Growth charts for Thai PWS compared to the 50th normative centile were constructed using Generalized Least Squares (GLS) methods. Curve smoothing was performed by Fractional Polynomials and Exponential Transformation.

Result
One hundred and thirteen patients with genetically confirmed PWS (55 males and 58 females) were enrolled. Fifty percent of patients were diagnosed less than 6 months of age. We developed growth charts for non-growth hormone treated Thai children with PWS aged between 0 and 18 years. A growth pattern was similar to other ethnicities while there were some differences. Mean birth weight of PWS patients was less than that of typical newborns. Mean adult height at 18 years of age in Thai children with PWS was lower than that in American children, but taller than Japanese. Mean weight of Thai PWS males at 18 years of age was more than those from other countries.

Conclusion
This study is the first to document PWS-specific growth charts in Southeast Asian population. These growth charts will be useful in improving the quality of patient care and in evaluating the impact of growth hormone treatment in the future.
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China
Authors: Zhang Jia , Sun Yuan , Shi Xiaodong , Zhang Rui , Wang Yini , Xiao Juan , Cao Jing , Gao Zhuo , Wang Jingshi , Wu Lin , Wei Wei , Wang Zhao 
Published: May 2020

Abstract
Background
Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disorders, but may display some mutations or polymorphisms. Rapid immunological assays examining natural killer (NK) cell activity, degranulation function (CD107a), and protein expression related to genetic deficiencies have been recommended for early pHLH identification.

Methods
A retrospective analysis of 311 HLH patients from a Chinese population was performed to evaluate the potential correlations between genetic testing and rapid immunological assays; genotyping characteristics, age of onset, and etiology were examined.

Results
Among the 128 (128/311) patients who were positive in the genetic screening, the most frequently detected mutant gene was UNC13D (29%), followed by LYST (21%), PRF1 (17%), and STXBP2 (10%). Among pHLH patients (n = 39), the majority (67%) had PRF1 and UNC13D defects. FHL-2 was predominant (12/27, 44%) in patients aged under 18, while FHL-3 was the most common (6/12, 50%) in adults. Differences in genetic variant types and etiological components were noted in HLH patients based on the age of onset. NK cell activity and CD107a were observed to show a consistent trend (Ptrend < 0.001) when grouping patients according to the severity of the genetic variant type. Moreover, NK cell activity was generally consistent within a certain range of ΔCD107a values (Ptrend < 0.001). The PPV for bi-allelic degranulation gene mutations in patients with CD107a < 5% was 38.9% (7/18), while the PPV in patients with CD107a ≤10% was 16.7% (13/78). The PPV for pHLH was 41.4% (29/70) with NK cell activity ≤13%. To further evaluate the diagnostic efficacy of NK cell activity assay in pHLH, a receiver operating characteristic (ROC) curve was generated and showed an area under the curve (AUC) of 0.872, and the optimal cutoff value was determined to be 13.425% with a sensitivity of 84.21% and specificity of 80.67% when the corresponding Youden index was maximized. Flow cytometry screening for deficient proteins, including perforin, SAP, and XIAP, showed a relatively high sensitivity (83.33–93.33%). The positive predictive values (PPVs) of perforin and XIAP were relatively low (20.83–26.92%), but the negative predictive values (NPVs) for all three were excellent (all > 98%).

Conclusions
Various immunological indicators have different clinical prediction and application values for the diagnosis of pHLH. The degree of reduction of immunological indicators also needs attention, and choosing appropriate cutoff value may be of important significance in guiding clinical judgment for pHLH.
High risk genotype distribution of human papillomavirus (HPV) according to age groups in Iranian asymptomatic men
Authors: Davarmanesh Mehrdad , Jazayeri Seyed Mohammad , Dezfulian Mehrouz , Gharavi Mohammad Javad 
Published: May 2020

Abstract
Background
The Human Papillomavirus (HPV) is one of the most common sexually transmitted viruses worldwide. HPV infection in men is a serious clinical issue as they could be considered as a reservoir for inadvertently transmitting infection to women. Moreover, genital HPV infection could be a source for anogenital cancers in men.

Methods
This cross sectional study was conducted from January 2017 to December 2018. Four hundred fifteen asymptomatic men who were visited by specialists, referred to Nilou laboratory in terms of high risk (HR) HPV test testing. HR-HPV genotypes were detected using an approved assay which could discover HPV 16, HPV 18 and a pool of other high risk HPV genotypes as well as 16+ other HR and 18 + other HR (as multiple genotypes). SPSS software was used for statistical analysis.

Results
The mean age was 33 ± 8.14 years. Specimens were referred to the laboratory by urologists, (n = 132, 32%, 95%CI: 25.0–39.4), dermatologists, (n = 104, 25, 95% CI: 19.1–30.9), gynecologists, (n = 75, 18, 95%CI: 13.3–29.3) and other specialists (n = 104, 25, 95% CI:19.1–30.9). The overall prevalence of other HR HPV, HPV16, HPV18 and multiple genotypes were 54.2% (45/83), 25.3% (21/83), 3.6% (3/83) and 16.8% (14/83), respectively. The frequency of HR-HPV, HPV16 and HPV18 genotypes was the highest among 30–40 years old.

Conclusion
The prevalence of HR-HPV infection among Iranian asymptomatic males was relatively high. Investigation on HPV infection in men as reservoir and transmission vehicle of HPV in addition to screening in women will improve the national public health provisions and will contribute to the application of infection control measurements at a national level.
Internalized stigma among patients with mood disorders in Ethiopia: a cross-sectional facility-based study
Authors: Tesfaye Elias , Worku Benyam , Girma Eshetu , Agenagnew Liyew 
Published: May 2020

Abstract
Background
Information on the degree of internalized stigma experienced by patients with mood disorders in Ethiopia is limited. This study attempted to assess the levels of internalized stigma and factors associated with it in patients with mood disorders who were on follow-up as an outpatient in a Psychiatry clinic at Saint Paul’s Hospital, Addis Ababa, Ethiopia.

Methods
A facility-based cross-sectional study employed, and a consecutive sampling technique was used to get study participants (235 cases with mood disorders). Internalized stigma of mental illness scale used to assess stigma of study subjects. The collected data were cleaned, checked for completeness, coded and entered into Epi-data version 3.1 data entry software and exported to SPSS version 20 statistical software for analysis. Univariate linear regression analysis was done to see the association between dependent and independent variables at P-value < 0.25 and multivariate linear regression analysis was done to identify predictor variables at P-value < 0.05.

Results
Nearly one-third (31.5%) of the patients had moderate or high levels of internalized stigma, and more than half (54.9%) of the respondents had moderate or high stigma resistance and self-esteem score of (67.2%). About a quarter (27.7%) had moderate to high levels of discrimination experience and a similar proportion (26.4%) had moderate to severe or extreme disability. Females had significantly higher internalized stigma (std. β = .169 with P < 0.01) than men. Adherence to medication was significantly correlated with lower internalized stigma (std. β = − .212 with P < 0.01).

Conclusions
These findings suggested that moderate to high internalized stigma occurred among approximately 1 in 3 people with a mood disorder in the urban city of Ethiopia. So, working on adherence to medication, self-esteem of patients and psycho-education about stigma is crucial to reducing the internalized stigma of people with a mood disorder and special attention should give to female patients.
Advances in the application of gold nanoparticles in bone tissue engineering
Authors: Li Hongru , Pan Su , Xia Peng , Chang Yuxin , Fu Chuan , Kong Weijian , Yu Ziyuan , Wang Kai , Yang Xiaoyu , Qi Zhiping 
Published: May 2020

AbstractThe materials used in bone tissue engineering (BTE) have been advancing with each passing day. With the continuous development of nanomedicine, gold nanoparticles (GNPs), which are easy to be synthesized and functionalized, have attracted increasing attention. Recent years have witnessed this amazing material, i.e., GNPs characterized with large surface area to volume ratio, biocompatibility, medical imaging property, hypotoxicity, translocation into the cells, high reactivity, and other properties, perform distinct functions in BTE. However, the low stability of GNPs in the biotic environment makes them in the requirements of modification or recombination before being used. After being combined with the advantages of other materials, the structures of GNPs have exhibited great potential in stem cells, scaffolds, delivery systems, medical imaging, and other aspects. This review will focus on the advances in the application of GNPs after modification or recombination with other materials to BTE.
Pitfalls in the embolisation of a thyrocervical trunk bleeding: a case report
Authors: Perrucci Luca , Graziano Monica , Ferrante Zairo , Salviato Elisabetta , Carnevale Aldo , Galeotti Roberto 
Published: May 2020

Abstract
Introduction
An intrathoracic bleeding from the thyrocervical branch is not common in blunt trauma, but an interventional radiologist should be aware of the risks in order to prevent complications.

Case presentation
A 30-year-old male presented with a right pneumo-haemothorax due to active bleeding revealed at contrast-enhanced CT, as a consequence of a fall occurred in the previous week. The patient was treated with endovascular embolisation in an angiographic room with coils placement, since the right thyrocervical artery was found to be supplying the pneumo-haemothorax. A radiculo-medullary branch rose from the thyrocervical trunk, impeding the proximal embolization with microparticles and needing selective isolation of the bleeding artery with the catheter to avoid spinal cord injuries. The treatment had a successful result and the following CT control showed signs of recovering, without any complication.

Conclusion
Our paper presents a rare contingency, warning the operator to bear in mind the presence of arteries feeding the spinal cord. This crucial detail precludes the use of microparticles embolisation to prevent neurologic sequelae, whereas the use of endovascular coils for embolization should be mandatory. Moreover, this case reminds that the post-traumatic bleeding deriving from a cervical trauma may also occur later.
Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies
Authors: Tan Ya-Qi , Tan Yue-Qiu , Cheng De-Hua 
Published: May 2020

Abstract
Background
Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution should be exercised in genetic counseling and reproductive intervention because cryptic unbalanced defects and genome structural variations beyond the resolution of routine cytogenetics may not be detected.

Case presentation
Here, we studied two familial cases of ABCRs were recruited in this study. In family 1, the couple suffered two abortions pregnancies and underwent labor induction. Single nucleotide polymorphism (SNP) array analysis of the aborted sample from the second pregnancy revealed a 10.8 Mb heterozygous deletion at 10q26.13q26.3 and a 5.5 Mb duplication at 19q13.41-q13.43. The non-affected father was identified as a carrier of three-way complex chromosomal rearrangement [t (6;10;19)(p22;q26;q13)] by karyotyping. Whole-genome mate-pair sequencing revealed a cryptic breakpoint on the derivative chromosome 19 (der19), indicating that the karyotype was a more complex structural rearrangement comprising four breakpoints. Three genes, FAM24B, CACNG8, and KIAA0556, were disrupted without causing any abnormal phenotype in the carrier. In family 2, the couple suffered from a spontaneous miscarriage. This family had an affected child with multiple congenital deformities and an unbalanced karyotype, 46,XY,der (11) t (6;11)(q13;p11.2). The female partner was identified as a balanced translocation carrier with the karyotype 46,XX,t (6;11)(q13;p11.2) dn. Further SNP array and fluorescent in situ hybridization (FISH) indicated a cryptic insertion between chromosome 6 and chromosome 11. Finally, whole-genome mate-pair sequencing revealed an extremely complex genomic structural variation, including a cryptic deletion and 12 breakpoints on chromosome 11, and 1 breakpoint on chromosome 6 .

Conclusions
Our study investigated two rare cases of ABCRs and demonstrated the efficacy of whole-genome mate-pair sequencing in analyzing the genome complex structural variation. In case of ABCRs detected by conventional cytogenetic techniques, whole genome sequencing (WGS) based approaches should be considered for accurate diagnosis, effective genetic counseling, and correct reproductive intervention to avoid recurrence risks.
Post-transplant cyclophosphamide after matched sibling, unrelated and haploidentical donor transplants in patients with acute myeloid leukemia: a comparative study of the ALWP EBMT
Authors:   Acute Leukemia Working Party of the European Society for Blood and Marrow Transplantation (EBMT), Sanz Jaime , Galimard Jacques-Emmanuel , Labopin Myriam , Afanasyev Boris , Angelucci Emanuele , Ciceri Fabio , Blaise Didier , Cornelissen Jan J. , Meijer Ellen , Diez-Martin J. L. , Koc Yener , Rovira Montserrat , Castagna Luca , Savani Bipin , Ruggeri Annalisa , Nagler Arnon , Mohty Mohamad 
Published: May 2020

AbstractBackgroundThe use of post-transplant cyclophosphamide (PTCy) is highly effective in preventing graft-versus-host disease (GVHD) in the haploidentical (Haplo) transplant setting and is being increasingly used in matched sibling (MSD) and matched unrelated (MUD) transplants. There is no information on the impact of donor types using homogeneous prophylaxis with PTCy.MethodsWe retrospectively compared outcomes of adult patients with acute myeloid leukemia (AML) in first complete remission (CR1) who received a first allogeneic stem cell transplantation (SCT) with PTCy as GVHD prophylaxis from MSD (n= 215), MUD (n= 235), and Haplo (n= 789) donors registered in the EBMT database between 2010 and 2017.ResultsThe median follow-up was 2 years. Haplo-SCT carried a significantly increased risk of acute grade II–IV GVHD (HR 1.6; 95% CI 1.1–2.4) and NRM (HR 2.6; 95% CI 1.5–4.5) but a lower risk of relapse (HR 0.7; 95% CI 0.5–0.9) that translated to no differences in LFS (HR 1.1; 95% CI 0.8–1.4) or GVHD/relapse-free survival (HR 1; 95% CI 0.8–1.3). Interestingly, the use of peripheral blood was associated with an increased risk of acute (HR 1.9; 95% CI 1.4–2.6) and chronic GVHD (HR 1.7; 95% CI 1.2–2.4) but a lower risk of relapse (HR 0.7; 95% CI 0.5–0.9).ConclusionsThe use of PTCy in patients with AML in CR1 receiving SCT from MSD, MUD, and Haplo is safe and effective. Haplo-SCT had increased risk of acute GVHD and NRM and lower relapse incidence but no significant difference in survival.