bluuebunny/crossref_metadata_2025_split huggingface dataset:
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
Authors: de Souza Paulo Victor Sgobbi , Pinto Wladimir Bocca Vieira de Rezende , Farias Igor Braga , Badia Bruno de Mattos Lombardi , Pinto Icaro França Navarro , Costa Gustavo Carvalho , Marin Carolina Maria , dos Santos Jorge Ana Carolina , Souto Emília Correia , Serrano Paulo de Lima , Machado Roberta Ismael Lacerda , Chieia Marco Antônio Troccoli , Bertini Enrico , Oliveira Acary Souza Bulle 
Published: August 2021

Abstract
Background
Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis.

Methods
We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population.

Results
All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity.

Conclusions
This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.
The status of emergency obstetric and newborn care in post-conflict eastern DRC: a facility-level cross-sectional study
Authors: Mizerero Serge-André , Wilunda Calistus , Musumari Patou Masika , Ono-Kihara Masako , Mubungu Gerrye , Kihara Masahiro , Nakayama Takeo 
Published: August 2021

AbstractBackgroundPregnancy-related mortality remains persistently higher in post-conflict areas. Part of the blame lies with continued disruption to vital care provision, especially emergency obstetric and newborn care (EmONC). In such settings, assessment of EmONC is essential for data-driven interventions needed to reduce preventable maternal and neonatal mortality. In the North Kivu Province (NKP), the epicentre of armed conflict in eastern Democratic Republic of the Congo (DRC) between 2006 and 2013, the post-conflict status of EmONC is unknown. We assessed the availability, use, and quality of EmONC in 3 health zones (HZs) of the NKP to contribute to informed policy and programming in improving maternal and newborn health (MNH) in the region.MethodA cross-sectional survey of all 42 public facilities designated to provide EmONC in 3 purposively selected HZs in the NKP (Goma, Karisimbi, and Rutshuru) was conducted in 2017. Interviews, reviews of maternity ward records, and observations were used to assess the accessibility, use, and quality of EmONC against WHO standards.ResultsOnly three referral facilities (two faith-based facilities in Goma and the MSF-supported referral hospital of Rutshuru) met the criteria for comprehensive EmONC. None of the health centres qualified as basic EmONC, nor could they offer EmONC services 24 h, 7 days a week (24/7). The number of functioning EmONC per 500,000 population was 1.5. Assisted vaginal delivery was the least performed signal function, followed by parenteral administration of anticonvulsants, mainly due to policy restrictions and lack of demand. The 3 HZs fell short of WHO standards for the use and quality of EmONC. The met need for EmONC was very low and the direct obstetric case fatality rate exceeded the maximum acceptable level. However, the proportion the proportion of births by caesarean section in EmONC facilities was within acceptable range in the HZs of Goma and Rutshuru. Overall, the intrapartum and very early neonatal death rate was 1.5%.ConclusionThis study provides grounds for the development of coordinated and evidence-based programming, involving local and external stakeholders, as part of the post-conflict effort to address maternal and neonatal morbidity and mortality in the NKP. Particular attention to basic EmONC is required, focusing on strengthening human resources, equipment, supply chains, and referral capacity, on the one hand, and on tackling residual insecurity that might hinder 24/7 staff availability, on the other.
Social media use to improve communication on children and adolescent’s health: the role of the Italian Paediatric Society influencers
Authors: Bozzola Elena , Staiano Anna Maria , Spina Giulia , Zamperini Nicola , Marino Francesco , Roversi Marco , Corsello Giovanni ,   The Italian Paediatric Society Executive Board, Villani Alberto , Agostiniani Rino , Memo Luigi , Peroni Diego , Banderali Giuseppe , Turra Renato , Romeo Nicola , Chiara Alberto , Antonio Dal Vecchio , Indinnimeo Luciana , Ferrara Pietro 
Published: August 2021

AbstractBackgroundFake news on children’s and adolescent health are spreading. Internet availability and decreasing costs of media devices are contributing to an easy access to technology by families. Public health organizations are working to contrast misinformation and promote scientific communication. In this context, a new form of communication is emerging social media influencers. Aim of this study is to evaluate the role of paediatric influencers (PI) in communicating information about children and adolescents’ health.Materials and methodsA group of PI was enrolled from December 2019 to January 2020 by a scientific commission nominated by the Italian Paediatric Society (SIP). PI were asked to share Facebook messages from the official page of the SIP to their own network. Social media tools have been evaluated across 12 months, from July 28, 2019, to July 11, 2020. For the purposes of clarity, we schematically divided the study period as follows: the period of PIs activity (January 6, 2020, to July 11, 2020) and the period when PIs were not yet active (July 28, 2019, to January 4, 2020). Information on Facebook page (lifetime total likes, daily new likes, daily page engaged, daily total reach) and on published post (lifetime post total reach, lifetime post organic reach, lifetime engaged users) were evaluated.ResultsA significant increase in Facebook daily new likes, page engagement and total reach, as well as in lifetime post total and organic reach was evidenced. As for PI, they reported a positive experience in most cases.DiscussionIn the digital era, communication strategies are becoming more important, so that the scientific community has to be actively involved in social media communication. Our pilot study demonstrated that the recruitment of paediatric influencers has increased communication and interaction of the SIP Facebook page.ConclusionOur study shows the potential role of influencers: spreading health messages via PI seems to be a successful strategy to promote correct communication about children’s and adolescents’ health.
Implementing antibody-drug conjugates (ADCs) in HER2-positive breast cancer: state of the art and future directions
Authors: Ferraro Emanuela , Drago Joshua Z. , Modi Shanu 
Published: August 2021

AbstractThe development of anti-HER2 agents has been one of the most meaningful advancements in the management of metastatic breast cancer, significantly improving survival outcomes. Despite the efficacy of anti-HER2 monoclonal antibodies, concurrent chemotherapy is still needed to maximize response. Antibody-drug conjugates (ADCs) are a class of therapeutics that combines an antigen-specific antibody backbone with a potent cytotoxic payload, resulting in an improved therapeutic index. Two anti-HER2 ADCs have been approved by the FDA with different indications in HER2-positive breast cancer. Ado-trastuzumab emtansine (T-DM1) was the first-in-class HER2-targeting ADC, initially approved in 2013 for metastatic patients who previously received trastuzumab and a taxane, and the label was expanded in 2019 to include adjuvant treatment of high-risk patients with residual disease after neoadjuvant taxane and trastuzumab-based therapy. In 2020, trastuzumab deruxtecan (T-DXd) was the second approved ADC for patients who had received at least 2 lines of anti-HER2-based therapy in the metastatic setting. The success of these two agents has transformed the treatment of HER2-positive breast cancer and has re-energized the field of ADC development. Given their advanced pharmaceutical properties, next-generation HER2-targeted ADCs have the potential to be active beyond traditional HER2-positive breast cancer and may be effective in cells with low expression of HER2 orERBB2mutations, opening a spectrum of new possible clinical applications. Ongoing challenges include improving target-specificity, optimizing the toxicity profile, and identifying biomarkers for patient selection. The aim of this review is to summarize the principal molecular, clinical, and safety characteristics of approved and experimental anti-HER2 ADCs, contextualizing the current and future landscape of drug development.
Proteomics informed by transcriptomics for a qualitative and quantitative analysis of the sialoproteome of adult Ornithodoros moubata ticks
Authors: Oleaga Ana , Carnero-Morán Angel , Valero M. Luz , Pérez-Sánchez Ricardo 
Published: August 2021

AbstractBackgroundThe argasid tickOrnithodoros moubatais the main vector in mainland Africa of African swine fever virus and the spirocheteBorrelia duttoni, which causes human relapsing fever. The elimination of populations ofO. moubatawould contribute to the prevention and control of these two serious diseases. Anti-tick vaccines are an eco-friendly and sustainable means of eliminating tick populations. Tick saliva forms part of the tick-host interface, and knowledge of its composition is key to the identification and selection of vaccine candidate antigens. The aim of the present work is to increase the body of data on the composition of the saliva proteome of adultO. moubataticks, particularly of females, since in-depth knowledge of theO. moubatasialome will allow the identification and selection of novel salivary antigens as targets for tick vaccines.MethodsWe analysed samples of female and male saliva using two different mass spectrometry (MS) approaches: data-dependent acquisition liquid chromatography-tandem MS (LC–MS/MS) and sequential window acquisition of all theoretical fragment ion spectra–MS (SWATH-MS). To maximise the number of proteins identified, a proteomics informed by transcriptomics analysis was applied using theO. moubatasalivary transcriptomic dataset previously obtained by RNA-Seq.ResultsSWATH-MS proved to be superior to LC–MS/MS for the study of female saliva, since it identified 61.2% more proteins than the latter, the reproducibility of results was enhanced with its use, and it provided a quantitative picture of salivary components. In total, we identified 299 non-redundant proteins in the saliva ofO. moubata, and quantified the expression of 165 of these in both male and female saliva, among which 13 were significantly overexpressed in females and 40 in males. These results indicate important quantitative differences in the saliva proteome between the sexes.ConclusionsThis work expands our knowledge of theO. moubatasialome, particularly that of females, by increasing the number of identified novel salivary proteins, which have different functions at the tick–host feeding interface. This new knowledge taken together with information on theO. moubatasialotranscriptome will allow a more rational selection of salivary candidates as antigen targets for tick vaccine development.Graphical Abstract
Urine metabolites for the identification of Onchocerca volvulus infections in patients from Cameroon
Authors: Wewer Vera , Peisker Helga , Gutbrod Katharina , Al-Bahra Mazen , Menche Dirk , Amambo Ngongeh Glory , Fombad Fanny F. , Njouendou Abdel Jelil , Pfarr Kenneth , Wanji Samuel , Hoerauf Achim , Dörmann Peter 
Published: August 2021

Abstract
Background
The tropical disease onchocerciasis (river blindness), caused by Onchocerca volvulus filarial nematodes, is targeted for elimination by mass treatment with nematocidal and antimicrobial drugs. Diagnosis of O. volvulus infections is based on counts of skin-borne microfilariae, but additional diagnostic tools, e.g. worm- or host-derived small RNAs, proteins or metabolites, are required for high-throughput screening. N-acetyltyramine-O,β-glucuronide (NATOG) was suggested as a biomarker for onchocerciasis but its viability as diagnostic tool has been challenged.

Methods
We performed a screening program of urine samples from individuals from Cameroon infected with O. volvulus, Loa loa, Mansonella perstans or a combination thereof. Urine metabolites were measured by liquid chromatography–mass spectrometry (LC-MS). Principle component analysis (PCA) revealed that onchocerciasis causes complex changes of the urine metabolome.

Results
The mean NATOG content was elevated in urine of O. volvulus-infected compared with non-infected individuals, but NATOG levels showed considerable variation. However, 13.8% of all O. volvulus-infected individuals had high NATOG levels never reached by individuals without filarial infections or only infected with L. loa or M. perstans. Therefore, the identification of individuals with high NATOG levels might be used to screen for the elimination of onchocerciasis after mass drug application. Additional metabolites, including a compound identified as cinnamoylglycine, had high PC1/PC2 loadings in the data set. Mean levels of cinnamoylglycine were increased in O. volvulus-infected individuals, and 17.2% of all O. volvulus individuals had elevated cinnamoylglycine levels not reached by the controls.

Conclusions
On an individual level, NATOG alone had poor discriminative power distinguishing infected from non-infected individuals. However, 13.8% of all O. volvulus-infected individuals had NATOG levels never reached by individuals without filarial infections or infected with only L. loa or M. perstans. Discrimination of O. volvulus infections from controls or individuals suffering from multiple infections was improved by the measurement of additional metabolites, e.g. cinnamoylglycine. Thus, measuring a combination of urine metabolites may provide a way to assess onchocerciasis on the population level. This provides the possibility to design a strategy for large-scale onchocerciasis epidemiological screening programs based on urine rather than invasive techniques.

Graphical abstract
When a rare simultaneous infection simulates a local extension of a rectal cancer: a case report
Authors: Baba Hicham , Fassi Fihri Jawad , Ramraoui Mohammed Essaid , Elguazzar Ahmed , Zeroual Ahmed , Lahkim Mohammed , El Khader Ahmed , Achour Abdessamad , El Barni Rachid 
Published: August 2021

Abstract
Background
Actinomycosis is a rare chronic infection caused by Actinomyces. The abdominopelvic localization of this pathology makes preoperative diagnosis extremely exceptional. The following report is the case of a patient treated for adenocarcinoma of the middle rectum associated with mesorectal actinomycosis. The diagnosis of actinomycosis was made postoperatively.

Case presentation
A 69-year-old Caucasian male patient was admitted for rectal bleeding. Clinical and paraclinical assessment revealed a middle rectum adenocarcinoma with local extension in the mesorectum. The patient underwent an anterior resection of the rectum by laparotomy after neoadjuvant chemoradiotherapy. Postoperative follow-up was simple. Pathological study of the specimen noted complete sterilization of the rectal adenocarcinoma and the presence of large foci of suppurative necrosis containing actinomycotic grains in the mesorectum.

Conclusion
Abdominopelvic actinomycosis is a rare pathology and has therefore rarely been dealt with. This issue can lead to unnecessary and mutilating surgery. We report an exceptional coincidence of rectal adenocarcinoma and mesorectal actinomycosis mistaken for mesorectal extension of the cancer.
Transplantation of human umbilical cord mesenchymal stem cells to treat premature ovarian failure
Authors: Shareghi-oskoue Oldouz , Aghebati-Maleki Leili , Yousefi Mehdi 
Published: August 2021

AbstractAs one of the problems and diseases for women before 40 years, premature ovarian failure (POF) could be characterized by amenorrhea, low estrogen levels, infertility, high gonadotropin levels, and lack of mature follicles. Causes of the disease involve some genetic disorders, autoimmunity diseases, and environmental factors. Various approaches have been employed to treat POF, however with limited success. Today, stem cells are used to treat POF, since they have the potential to self-repair and regenerate, and are effective in treating ovarian failure and infertility. As mesenchymal stem cell (MSC) could simultaneously activate several mechanisms, many researchers consider MSC transplantation to be the best and most effective approach in cell therapy. A good source for mesenchymal stem cells is human umbilical cord (HUCMSC). Animal models with cyclophosphamide are required for stem cell treatment and performance of HUCMSC transplantation. Stem cell therapy could indicate the levels of ovarian markers and follicle-stimulating hormone receptor. It also increases ovarian weight, plasma E2 levels, and the amount of standard follicles. Herein, the causes of POF, effective treatment strategies, and the effect of HUCMSC transplantation for the treatment of premature ovarian failure are reviewed. Many studies have been conducted in this field, and the results have shown that stem cell treatment is an effective approach to treat infertility.
A simplified approach for determination of urinary ethyl glucuronide by gas chromatography–mass spectrometry
Authors: Ghosh Shayani , Jain Raka , Singh Satpal , Rao Ravindra , Mishra Ashwani Kumar , Jhanjee Sonali 
Published: August 2021

AbstractUrinary ethyl glucuronide (EtG), an alcohol biomarker, plays an essential role in monitoring alcohol abstinence and relapse during treatment for alcohol dependence. Detection of this biomarker has become a routine in many clinical and forensic laboratories over the last few years. Most previously published methods commonly use hyphenated chromatographic techniques along with extensive extraction procedure before analysis. This work aimed to develop and validate an electron impact ionization mode gas chromatography–mass spectrometry method to measure ethyl glucuronide levels in human urine. For its determination, urine samples were dried under a gentle stream of nitrogen, derivatized with N,O-bis(trimethylsilyl) trifluoroacetamide, incubated, and injected into the instrument. The analysis was performed using single quadrupole gas chromatography–mass spectrometry (GC-MS) technology and validation was performed according to the guidelines of the German Society of Toxicology and Forensic Chemistry (GTFCh). The linearity of urinary EtG was obtained in the range of 30–5000 ng/ml with a correlation coefficient (r) above 0.999. The extraction recoveries exceeded 80%, and the obtained inter-day and intra-day precisions were below 15%. The achieved limit of detection was 10 ng/ml and limit of quantification achieved was 30 ng/ml. The electron ionization gas chromatography–mass spectrometry technique proves to be a feasible option for determining EtG in human urine when other sophisticated techniques are unapproachable. This method provides a good sensitivity and proves to be cost-effective, robust, and advantageous for both clinical as well as forensic settings.
High resolution melting analysis and detection of Leishmania resistance: the role of multi drug resistance 1 gene
Authors: Abadi Maryam Fekri Soofi , Moradabadi Alireza , Vahidi Reza , Shojaeepour Saeedeh , Rostami Sara , Rad Iman , Dabiri Shahriar 
Published: August 2021

AbstractBackgroundPentavalent antimonial compounds are currently used to treat leishmaniasis and resistance to these drugs is a serious problem. Multidrug resistance protein is an efflux pump of the cell membrane that expels foreign compounds. This study designed to evaluate the mutations in the multi-drug resistance 1 (MDR1) gene, in biopsy specimens ofLeishmania tropica, with high resolution melting (HRM) method. In this experimental study, genomic DNA was extracted from 130 patients with skin leishmaniasis. Then, nucleotide changes were investigated throughout the gene using HRM and sequencing methods. The samples categorized in 5 groups by differences in the melting temperature (Tm).ResultThe nucleotide changes analysis showed that 61% of the samples of different groups that were unresponsive to drug had mutations in the MDR1 gene, which were also confirmed by the sequencing method. These mutations can be one of the factors responsible for non-responsiveness to the treatment.ConclusionAccording to the findings, it seems that mutation in MDR1 gene could be responsible for drug resistance to pentavalent antimonial compounds. Furthermore, HRM method can be used to diagnose drug resistance in leishmaniasis. It is also recommended that further studies be done regarding the importance of drug resistance in theleishmaniaaffected patients.
Terahertz absorption characteristics of guar gum determined via microfluidic technology
Authors: Zhang Feng-Xuan , Wang Guo-Yang , Huang Hai-Yun , Chen Meng-Han , Zhang Si-Jia , Su Bo , Zhang Cun-Lin 
Published: August 2021

AbstractThe vibrational energy levels of many biomolecules correspond to the terahertz band; thus, terahertz technology can be used to identify these substances. Moreover, as the biological activity of most biomolecules can be observed only in aqueous solution, the characteristics of such biomolecules must be studied in aqueous solution. In this study, a simple microfluidic chip, a temperature control device and a strong electric field device were designed to study the terahertz absorption characteristics of guar gum for different temperatures, concentrations and electric field exposure durations, thus enabling the use of terahertz technology to analyse the characteristics of guar gum.