bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study
Authors: Eskes Eline C. B. , Beishuizen Cathrien R. L. , Corazolla Eleonore M. , van Middelaar Tessa , Brands Marion M. M. G. , Dekker Hanka , van de Mheen Erica , Langeveld Mirjam , Hollak Carla E. M. , Sjouke Barbara 
Published: October 2022

Abstract
Introduction
Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within the spectrum of LSDs, willingness to undergo gene therapy might vary among patients with LSDs and/or their representatives. The width of the LSD spectrum is illustrated by the differences between type 1 Gaucher disease, Fabry disease and Mucopolysaccharidosis type III (MPS III). For type 1 Gaucher and Fabry disease several therapies are available, resulting in a near normal or improved, but individually varying, prognosis. No treatment options are available for MPS III.

Aim
To identify factors influencing patients’ and/or their representatives’ decisions regarding undergoing gene therapy.

Methods
Focus group discussions and semi-structured interviews were conducted with patients with type 1 Gaucher disease, Fabry disease and MPS III. Parents of MPS III patients were included as patients’ representatives.

Results
Nine Gaucher patients, 23 Fabry patients, two adult MPS III patients and five parents of MPS III patients participated in the study. The five main themes that arose were: outcome of gene therapy, risks and side effects, burden of gene therapy treatment, current situation and ethical aspects. Participants’ views ranged from hesitance to eagerness to undergo gene therapy, which seemed to be mostly related to disease severity and currently available treatment options. Severe disease, limited treatment options and limited effectiveness of current treatment augmented the willingness to choose gene therapy. Gaucher and Fabry patients deemed the burden of treatment important. Fabry and MPS III patients and parents considered outcome important, suggesting hope for improvement. When asked to rank the factors discussed in the focus group discussions, Gaucher patients ranked outcome low, which could indicate a more cautious attitude towards gene therapy.

Conclusion
This study underlines the importance of exploring patients’ needs and expectations before using limited resources in the development of therapies for patient groups of which a significant subset may not be willing to undergo that specific therapy.
Somatic mosaicism in the diseased brain
Authors: Iourov Ivan Y. , Vorsanova Svetlana G. , Kurinnaia Oxana S. , Kutsev Sergei I. , Yurov Yuri B. 
Published: October 2022

AbstractIt is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount of evidence on the contribution of somatic mosaicism (the presence of genetically different cell populations in the same individual/tissue) to the etiology of brain diseases. However, brain-specific genomic variations are generally overlooked during the research of genetic defects associated with a brain disease. Accordingly, a review of brain-specific somatic mosaicism in disease context seems to be required. Here, we overview gene mutations, copy number variations and chromosome abnormalities (aneuploidy, deletions, duplications and supernumerary rearranged chromosomes) detected in the neural/neuronal cells of the diseased brain. Additionally, chromosome instability in non-cancerous brain diseases is addressed. Finally, theoretical analysis of possible mechanisms for neurodevelopmental and neurodegenerative disorders indicates that a genetic background for formation of somatic (chromosomal) mosaicism in the brain is likely to exist. In total, somatic mosaicism affecting the central nervous system seems to be a mechanism of brain diseases.
Building the capacity of West African countries in Aedes surveillance: inaugural meeting of the West African Aedes Surveillance Network (WAASuN)
Authors: Dadzie Samuel K. , Akorli Jewelna , Coulibaly Mamadou B. , Ahadji-Dabla Koffi Mensah , Baber Ibrahima , Bobanga Thierry , Boukhary Ali Ould Mohamed Salem , Canelas Tiago , Facchinelli Luca , Gonçalves Adéritow , Guelbeogo Moussa , Kamgang Basile , Keita Ibrahima Kalil , Konan Lucien , Levine Rebecca , Dzuris Nicole , Lenhart Audrey ,   WAASuN contributors, Appawu Maxwell , Ayorinde Dogunro Festus , Boakye Daniel , Diallo Mawlouth , Dinis João , Fayiah John Soleemulo , Hamani Boube , Idam Eloy Emelda , Jorge Cani Pedro , Kandeh Balla , Kanmi Olakiigbe Abiodum , N’Guessan Raphael , Pi-Bansa Sellase , Salem Sidina Mohamed , Sillah Ansumana , Smith Samuel , Toé Hyacinthe , Williams Chrispin , Wilson Michael , Yadouleton Anges 
Published: October 2022

AbstractArboviral diseases such as dengue, Zika and chikungunya transmitted by Aedes mosquitoes have been reported in 34 African countries. Available data indicate that in recent years there have been dengue and chikungunya outbreaks in the West Africa subregion, in countries including Côte d’Ivoire, Burkina Faso, Gabon, Senegal, and Benin. These viral diseases are causing an increased public health burden, which impedes poverty reduction and sustainable development. Aedes surveillance and control capacity, which are key to reducing the prevalence of arboviral infections, need to be strengthened in West Africa, to provide information essential for the formulation of effective vector control strategies and the prediction of arboviral disease outbreaks. In line with these objectives, the West African Aedes Surveillance Network (WAASuN) was created in 2017 at a meeting held in Sierra Leone comprising African scientists working on Aedes mosquitoes. This manuscript describes the proceedings and discusses key highlights of the meeting.
Graphical Abstract
Tick microbial associations at the crossroad of horizontal and vertical transmission pathways
Authors: Krawczyk Aleksandra Iwona , Röttjers Sam , Coimbra-Dores Maria João , Heylen Dieter , Fonville Manoj , Takken Willem , Faust Karoline , Sprong Hein 
Published: October 2022

Abstract
Background
Microbial communities can affect disease risk by interfering with the transmission or maintenance of pathogens in blood-feeding arthropods. Here, we investigated whether bacterial communities vary between Ixodes ricinus nymphs which were or were not infected with horizontally transmitted human pathogens.

Methods
Ticks from eight forest sites were tested for the presence of Borrelia burgdorferi sensu lato, Babesia spp., Anaplasma phagocytophilum, and Neoehrlichia mikurensis by quantitative polymerase chain reaction (qPCR), and their microbiomes were determined by 16S rRNA amplicon sequencing. Tick bacterial communities clustered poorly by pathogen infection status but better by geography. As a second approach, we analysed variation in tick microorganism community structure (in terms of species co-infection) across space using hierarchical modelling of species communities. For that, we analysed almost 14,000 nymphs, which were tested for the presence of horizontally transmitted pathogens B. burgdorferi s.l., A. phagocytophilum, and N. mikurensis, and the vertically transmitted tick symbionts Rickettsia helvetica, Rickettsiella spp., Spiroplasma ixodetis, and CandidatusMidichloria mitochondrii.

Results
With the exception of Rickettsiella spp., all microorganisms had either significant negative (R. helvetica and A. phagocytophilum) or positive (S. ixodetis, N. mikurensis, and B. burgdorferi s.l.) associations with M. mitochondrii. Two tick symbionts, R. helvetica and S. ixodetis, were negatively associated with each other. As expected, both B. burgdorferi s.l. and N. mikurensis had a significant positive association with each other and a negative association with A. phagocytophilum. Although these few specific associations do not appear to have a large effect on the entire microbiome composition, they can still be relevant for tick-borne pathogen dynamics.

Conclusions
Based on our results, we propose that M. mitochondrii alters the propensity of ticks to acquire or maintain horizontally acquired pathogens. The underlying mechanisms for some of these remarkable interactions are discussed herein and merit further investigation.

Graphical Abstract
Neuronal desertification after a direct lightning strike: a case report
Authors: Roman-Pognuz Erik , Moro Edoardo , Macchini Elisabetta , Di Paolo Edoardo , Pesenti Kenneth , Lucangelo Umberto , Bussani Rossana , Baratella Elisa , Pellis Tommaso , Ristagno Giuseppe 
Published: October 2022

Abstract
Background
Lightning strike is a rare but dramatic cause of injury. Patients admitted to intensive care units (ICUs) with lightning strike frequently have a high mortality and significant long-term morbidity related to a direct brain injury or induced cardiac arrest (CA).

Case presentation
A 50-year-old Caucasian man was admitted to our hospital after being struck by lightning resulting in immediate CA. Spontaneous circulation was initially restored, and the man was admitted to the ICU, but ultimately died while in hospital due to neurological injury. The computer tomography scan revealed a massive loss of grey-white matter differentiation at the fronto-temporal lobes bilaterally. Somatosensory-evoked potentials demonstrated bilateral absence of the cortical somatosensory N20-potential, and the electroencephalogram recorded minimal cerebral electrical activity. The patient died on day 10 and a post-mortem study revealed a widespread loss of neurons.

Conclusion
This case study illustrates severe brain injury caused by a direct lighting strike, with the patient presenting an extraordinary microscopic pattern of neuronal desertification.
Isolated giant renal hydatid cyst with a simple renal cyst appearance: a case report
Authors: Hammade Mohammed , Alhoulaiby Sami , Ahmed Adnan 
Published: October 2022

Abstract
Background
Isolated renal hydatid cysts of the kidney are a rare occurrence that account for about 2–3% of all hydatidoses. They can stay asymptomatic for years and could have a variable presentation on imaging techniques, which results in a challenging diagnostic process.

Case presentation
We report a 22-year-old Caucasian male with a large cyst on the upper pole of the left kidney that had no septations nor membrane calcifications on computed tomography, which led to mistakenly considering it a simple renal cyst. The true diagnosis was identified intraoperatively and proven postoperatively by pathology.

Conclusions
This case highlights the importance of keeping echinococcosis in mind when treating suspected renal cysts and tumors to avoid incorrect treatment and possible content spillage, anaphylaxis, and peritoneal dissemination.
A fingerprints based molecular property prediction method using the BERT model
Authors: Wen Naifeng , Liu Guanqun , Zhang Jie , Zhang Rubo , Fu Yating , Han Xu 
Published: October 2022

AbstractMolecular property prediction (MPP) is vital in drug discovery and drug reposition. Deep learning-based MPP models capture molecular property-related features from various molecule representations. In this paper, we propose a molecule sequence embedding and prediction model facing with MPP task. We pre-trained a bi-directional encoder representations from Transformers (BERT) encoder to obtain the semantic representation of compound fingerprints, called Fingerprints-BERT (FP-BERT), in a self-supervised learning manner. Then, the encoded molecular representation by the FP-BERT is input to the convolutional neural network (CNN) to extract higher-level abstract features, and the predicted properties of the molecule are finally obtained through fully connected layer for distinct classification or regression MPP tasks. Comparison with the baselines shows that the proposed model achieves high prediction performance on all of the classification tasks and regression tasks.
The quartic Catmull–Rom spline with local adjustability and its shape optimization
Authors: Li Juncheng , Liu Chengzhi , Liu Shanjun 
Published: October 2022

AbstractParametric interpolatory curves play a vital part in geometric modeling. Cubic Catmull–Rom spline is a well-known tool for constructing parametric interpolatory curves, but it cannot be modified once its control points are fixed. We propose a novel quartic Catmull–Rom spline with free parameters to tackle this issue. The quartic Catmull–Rom spline owns shape adjustability based on inheriting the features of the cubic Catmull–Rom spline. Some modeling examples show that the shape of the quartic Catmull–Rom spline can realize both global adjustment and local adjustment by changing the free parameters. In addition, we give three schemes for optimizing the shape of the quartic Catmull–Rom spline, which can generate the spline with minimal internal energy, the shape-preserving spline, and the monotonicity-preserving spline. Numerical examples indicate that the proposed schemes are effective and the quartic Catmull–Rom spline is more practical than the cubic Catmull–Rom spline in data interpolation.
Hypoxic-induced resting ventilatory and circulatory responses under multistep hypoxia is related to decline in peak aerobic capacity in hypoxia
Authors: Horiuchi Masahiro , Dobashi Shohei , Kiuchi Masataka , Fukuoka Yoshiyuki , Koyama Katsuhiro 
Published: October 2022

Abstract
Background
Several factors have been shown to contribute to hypoxic-induced declined in aerobic capacity. In the present study, we investigated the effects of resting hypoxic ventilatory and cardiac responses (HVR and HCR) on hypoxic-induced declines in peak oxygen uptake ($$\dot{\mathrm V}$$

V
˙

O2peak).

Methods
Peak oxygen uptakes was measured in normobaric normoxia (room air) and hypoxia (14.1% O2) for 10 young healthy men. The resting HVR and HCR were evaluated at multiple steps of hypoxia (1 h at each of 21, 18, 15 and 12% O2). Arterial desaturation (ΔSaO2) was calculate by the difference between SaO2 at normoxia—at each level of hypoxia (%). HVR was calculate by differences in pulmonary ventilation between normoxia and each level of hypoxia against ΔSaO2 (L min−1 %−1 kg−1). Similarly, HCR was calculated by differences in heart rate between normoxia and each level of hypoxia against ΔSaO2 (beats min−1 %−1).

Results
$$\dot{\mathrm V}$$

V
˙

O2peak significantly decreased in hypoxia by 21% on average (P < 0.001). HVR was not associated with changes in $$\dot{\mathrm V}$$

V
˙

O2peak. ΔSaO2 from normoxia to 18% or 15% O2 and HCR between normoxia and 12% O2 were associated with changes in $$\dot{\mathrm V}$$

V
˙

O2peak (P < 0.05, respectively). The most optimal model using multiple linear regression analysis found that ΔHCR at 12% O2 and ΔSaO2 at 15% O2 were explanatory variables (adjusted R2 = 0.580, P = 0.02).

Conclusion
These results suggest that arterial desaturation at moderate hypoxia and heart rate responses at severe hypoxia may account for hypoxic-induced declines in peak aerobic capacity, but ventilatory responses may be unrelated.
Profiling ATM regulated genes in Drosophila at physiological condition and after ionizing radiation
Authors: Liu Jun , Jin Tianyu , Ran Lanxi , Zhao Ze , Zhu Rui , Xie Gangcai , Bi Xiaolin 
Published: October 2022

Abstract
Background
ATM (ataxia-telangiectasia mutated) protein kinase is highly conserved in metazoan, and plays a critical role at DNA damage response, oxidative stress, metabolic stress, immunity, RNA biogenesis etc. Systemic profiling of ATM regulated genes, including protein-coding genes, miRNAs, and long non-coding RNAs, will greatly improve our understanding of ATM functions and its regulation.

Results
1) differentially expressed protein-coding genes, miRNAs, and long non-coding RNAs in atm mutated flies were identified at physiological condition and after X-ray irradiation. 2) functions of differentially expressed genes in atm mutated flies, regardless of protein-coding genes or non-coding RNAs, are closely related with metabolic process, immune response, DNA damage response or oxidative stress. 3) these phenomena are persistent after irradiation. 4) there is a cross-talk regulation towards miRNAs by ATM, E2f1, and p53 during development and after irradiation. 5) knock-out flies or knock-down flies of most irradiation-induced miRNAs were sensitive to ionizing radiation.

Conclusions
We provide a valuable resource of protein-coding genes, miRNAs, and long non-coding RNAs, for understanding ATM functions and regulations. Our work provides the new evidence of inter-dependence among ATM-E2F1-p53 for the regulation of miRNAs.
Malnutrition, anaemia and anisocytosis as public health problems among children ≤ 5 years living in malaria perennial transmission areas of Mount Cameroon: a cross sectional study
Authors: Teh Rene Ning , Sumbele Irene Ule Ngole , Nkeudem Gillian Asoba , Sandie Sorelle Mekachie , Sama Sharon Odmia , Metuge Samuel , Kimbi Helen Kuokuo 
Published: October 2022

Abstract
Background
Anaemia, anisocytosis, malnutrition (especially stunting) are common health problems in developing countries with children being the most vulnerable. These conditions have negative impacts on human performance, growth and development, and can further be complicated if comorbidity exists within a holoendemic stratum with strong and perennial malaria parasite transmission such as the Mount Cameroon area. The study aimed at determining the prevalence and severity malnutrition, anaemia and anisocytosis in children ≤ 5 years, living in the conflict hit malaria perennial transmission zone of the Mount Cameroon area.

Method
A cross-sectional community-based survey involving 628 children ≤ 5 years was conducted. Malaria parasitaemia was confirmed by Giemsa-stained microscopy and the density was log transformed. Haemoglobin (Hb), mean cell volume and red blood cell distribution width were estimated using an auto-haematology analyser and defined according to WHO standards. Anthropometric indices were analysed and compared with WHO growth reference standards using WHO Anthro software.

Results
Plasmodium infection, anaemia, microcytic anaemia, anisocytosis and stunting were prevalent in 36.0, 72.8, 30.1, 54.1 and 29.0% of the children, respectively. The ≤ 24 months children were more moderately stunted (14.7%), with higher prevalence of microcytic anaemia (38.8%) and anisocytosis (68.8%) (P < 0.002 and P < 0.001, respectively) when compared with the older children. The mean Hb level in the study population was 10.04 g/dL with children ≤ 24 months having the least mean haemoglobin level (9.69 g/dL) when compared with their older counterparts at P < 0.001. The odds of having anisocytosis were highest among children who were malnourished (OR = 4.66, P = 0.005), those infected with malaria parasites (OR = 1.85, P = 0.007), and whose parents had a primary (OR = 3.51, P = 0.002) and secondary levels of education (OR = 2.69, P = 0.017).

Conclusion
Malaria, anaemia, anisocytosis and undernutrition still remain severe public health concerns among children ≤ 60 months in the Mount Cameroon area. This therefore emphasizes the need for the implementation of consistent policies, programmes and activities to avoid malaria, anaemia, anisocytosis and stunting in the paediatric age group.
Influence of functionalized S–SBR on silica–filled rubber compound properties
Authors: Yamada Chigusa , Yasumoto Atsushi , Matsushita Tadashi , Blume Anke 
Published: October 2022

AbstractStyrene–butadiene–Rubber, SBR, is most often used in tread compounds in order to improve the Rolling Resistance (RR). The functionalized SBRs are used to increase the polymer–filler interaction in the compound to improve RR. In this study, the effect of different types of functional groups in SBR was investigated. Several types of functionalized S–SBR’s were synthesized by anionic polymerization: (i) SBR with an amine group at one end of the polymer chain, (ii) SBR with an alkoxy silane group at one end (iii) SBR with an amine group at one end and an alkoxy silane group at the other end of the polymer chain. A model reaction of silanization was conducted in a solvent to estimate how the amine functional group affects the silanization. Silica filled compounds were prepared with these SBR types. Payne effect and bound rubber measurement were done. The model silanization reaction of TESPT (Bis(triethoxysilylpropyl)tetrasulfide) with silica in the presence of amine shows that a higher amount of ethanol (EtOH) is released from TESPT compared to the amine free system. This result indicates that the silanization reaction can be accelerated by the presence of an amine functional group at the SBR polymer chain used in silica–filled compounds. The amine functionalized SBR and the alkoxy silane functionalized SBR show less Payne effect of the compounds which indicates that both functional groups can decrease the filler–filler interaction. More chemical bound rubber was obtained in branched SBRs compared to the corresponding linear SBRs. A branched polymer chain has a higher molecular weight compared to the linear type. Therefore, when one branched polymer chain reacts with silica or creates a silica–silane–polymer bond, more bound rubber can be obtained for the branched than for the linear type. The compound of the SBR with the alkoxy–silane functional group shows lower tan δ compared to the non–functionalized SBR and the amine functionalized SBR compounds. The influence of the type of functionalization of the SBR on tan δ at 70 °C was more significant in branched SBRs than in linear SBRs, due to the before–mentioned effect of the functional group on silanization and bound rubber.
Analgesic efficacy of the bilateral erector spinae plane block for colorectal surgery: a randomized controlled trial
Authors: Kekul Ozgenur , Ustun Yasemin Burcu , Kaya Cengiz , Turunç Esra , Dost Burhan , Bilgin Sezgin , Ozkan Fatih 
Published: October 2022

Abstract
Background
Colorectal cancer is quite common, and surgery is the most effective treatment for most patients. However, postoperative pain management is generally inadequate in most patients. This study aimed to determine the effect of ultrasonography (USG)-guided preemptive erector spina plan block (ESPB), as part of multimodal analgesia, on postoperative analgesia in patients undergoing colorectal cancer surgery.

Methods
This is a prospective, randomized, single-blind trial. This study included 60 patients (ASA I-II) who underwent colorectal surgery at the hospital of Ondokuz Mayis University. The patients were divided into the ESP group and control group. Intraoperatively, all patients were administered intravenous tenoxicam (20 mg) and paracetamol (1 g) as part of multimodal analgesia. Intravenous morphine via patient-controlled analgesia was administered in all groups postoperatively. The primary outcome was the total morphine consumption in the first 24 h after surgery. The secondary outcomes included visual analog scale pain scores at rest and coughing and deep inspiration in the first 24 h and at 3 months postoperatively; number of patients requesting rescue analgesia; incidence of nausea and vomiting and need for antiemetics; intraoperative remifentanil consumption; postoperative first oral intake; time to first urination, first defecation, and first mobilization; hospitalization time; and incidence of pruritus.

Results
Morphine consumption in the first 6 h postoperatively, total amount of morphine consumed in the first 24 h postoperatively, pain scores, intraoperative remifentanil consumption, incidence of pruritus, and postoperative antiemetic requirement were lower in the ESP group than in the control group. First defecation time and hospitalization time were shorter in the block group.

Conclusions
As a part of multimodal analgesia, ESPB reduced postoperative opioid consumption and pain scores in the early postoperative period and in the 3rd month.