bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
Authors: Ahmed Sibtain , Akbar Fizza , DeBerardinis Ralph J. , Ni Min , Afroze Bushra 
Published: July 2023

Abstract

Objectives
To study the biochemical, clinical and molecular characteristics of 5,10- methylenetetrahydrofolate reductase (MTHFR) deficiency in Pakistani patients from a single center.

Methods
Medical charts, urine organic acid chromatograms, plasma methionine and Hcys levels, and molecular testing results of MTHFR gene of patients presenting at the Biochemical Genetics Clinic, AKUH from 2016 to 2022 were reviewed.

Results
Neonatal MTHFR deficiency was found in five patients. The median (IQR) age of symptom onset and diagnosis were 18 (8.5–22) and 26 (16.5–31) days. The median lag between symptom onset and diagnosis was 8 (4.5–12.5) days. The median age of treatment initiation and duration of treatment were 26 (16.5–49) and 32 (25.5–54) days. The most common clinical features were lethargy, poor feeding, and seizures. The MTHFR gene sequencing revealed homozygous variants p.K510K, p.R567*, and p.R157W. Renal insufficiency manifesting as elevated serum creatinine and responding to betaine therapy was noted in one patient. This has not been previously reported in neonatal MTHFR deficiency and may reflect engagement of alternate pathways of remethylation. Adult onset MTHFR deficiency was found in six patients, with a heterogeneous neurological presentation. The median lag between symptoms onset and diagnosis was 7 (3–11) years. MTHFR gene sequencing revealed homozygous variant p.A195V in five patients from one family and p.G261V in the other. Two of the five reported variants are novel that include p.R157W and p.G261V.

Conclusions
Eleven patients of this rare disorder from a single center indicate the need for clinical awareness and appropriate biochemical evaluation to ensure optimal outcomes.
Bigger Fish to Fry: Evidence (or Lack of) for Fish Consumption in Ancient Syracuse (Sicily)
Authors: Tanasi Davide , Greco Enrico 
Published: July 2023

Abstract
Fish and fish products are considered important sources of nutrition due to their high protein, fat, and fat-soluble vitamin content. These food items have been extensively discussed and celebrated in various genres of Greek literature. However, there is a discrepancy between the rich textual evidence of fish cooking and consumption and the limited archaeological evidence of fishing gear, especially with respect to Greek Sicily. Such scarcity of evidence is particularly evident in the Archaic period. To address the issue of fish consumption in Greek Sicily and to determine the role of fish in the local communities’ diet, this study focuses on the new data that have emerged from stable isotopes analysis on skeletal remains from a recently discovered Archaic period necropolis in Syracuse. The study analyzes the dietary habits of the individuals buried in the necropolis and establishes possible connections between burial practices and diet. Additionally, the study compares the dietary patterns with the social status of the individuals, as demonstrated by the funerary context. The comparison of the new evidence with similar contexts will allow for a critical review of the literary sources and the reinterpretation of the archaeological record. Through this, the study aims to establish the role of fish in the diet of the Greeks of Sicily and their significance at the dining table.
Dual Receptive Fields Underlying Target and Wide-Field Motion Sensitivity in Looming-Sensitive Descending Neurons
Authors: Nicholas Sarah , Ogawa Yuri , Nordström Karin 
Published: July 2023

AbstractResponding rapidly to visual stimuli is fundamental for many animals. For example, predatory birds and insects alike have amazing target detection abilities, with incredibly short neural and behavioral delays, enabling efficient prey capture. Similarly, looming objects need to be rapidly avoided to ensure immediate survival, as these could represent approaching predators. MaleEristalis tenaxhoverflies are nonpredatory, highly territorial insects that perform high-speed pursuits of conspecifics and other territorial intruders. During the initial stages of the pursuit, the retinal projection of the target is very small, but this grows to a larger object before physical interaction. Supporting such behaviors,E. tenaxand other insects have both target-tuned and loom-sensitive neurons in the optic lobes and the descending pathways. We here show that these visual stimuli are not necessarily encoded in parallel. Indeed, we describe a class of descending neurons that respond to small targets, to looming and to wide-field stimuli. We show that these descending neurons have two distinct receptive fields where the dorsal receptive field is sensitive to the motion of small targets and the ventral receptive field responds to larger objects or wide-field stimuli. Our data suggest that the two receptive fields have different presynaptic input, where the inputs are not linearly summed. This novel and unique arrangement could support different behaviors, including obstacle avoidance, flower landing, and target pursuit or capture.
The Role of Health-Consciousness and De-stress Motivation on Travel Desire and Intention
Authors: Andrulienė Rasuolė , Urbonavičius Sigitas 
Published: July 2023

Health-consciousness is an important reason for travelling to resorts that offer health and wellness services. Additionally, during stressful periods, health-consciousness may trigger de-stress motivation, which is another reason to travel to destinations that help exiting from the stressful conditions. The post-pandemic context presents a situation in which health-consciousness, together with de-stress motivation, could play an important role for travelling to nearby resorts, the services of which together with opportunities to socialize could be seen as desired objectives. However, evidence on the impact of de-stress motivation on desire and intention to travel in post-restriction period is scarce, presenting a notable research gap. This gap is addressed with modelling on the basis of goal-directed behaviour that predicts travelling with the consideration of travel desire and travel intentions. This study concentrates on the impact of health-consciousness and de-stress motivation on desire and intention to travel, with the analysis of data collected from 793 respondents in Lithuania. It was found that health-consciousness and de-stress motivation are positively related to each other and have a significant impact on both travel desire and intention.
Reading landscapes and writing nature
Authors: Novack Rich 
Published: July 2023

This reflective article discusses lessons learned when Reading Landscapes & Writing Nature, an annual collaboration between a National Writing Project site and Weir Farm National Historical Park, migrated online in 2020 as a result of the Covid-19 pandemic. The organizations have used critical pedagogies of place (Gruenewald, 2003) since 2017 to guide teacher writing workshops, and reimagined the professional development in digital spaces with multimodal literacies (Kinloch, 2009; Kress, 2003). This including 360 photospheres and Padlet as tools to expand educators’ understandings of literacy, wellness, and place.
Changes in cardiac hemodynamic parameters in patients after COVID-19
Authors: Chistiakova M. V. , Govorin A. V. , Mudrov V. A. , Kalinkina T. V. , Medvedeva N. A. , Kudryavtseva Ya. V. 
Published: July 2023

Aim. To study cardiac hemodynamic disorders in patients 3, 6 and 12 months after coronavirus disease 2019 (COVID-19).Material and methods. Sixty-six patients with bilateral pneumonia (mean age, 36,1 years), treated for COVID-19, underwent echocardiography, Doppler ultrasound of hepatolienal blood flow vessels after 3, 6, 12 months. Patients were divided into groups based on computed tomography (CT) data: group 1 — 21 patients with CT1, group 2 — 25 patients with CT2, group 3 — 20 patients with CT 3-4. In the 3rd group, 60% of patients had excessive weight. IBM SPSS Statistics Version 25.0 was used.Results. Three months after the disease in all groups, there was a impairment of diastolic parameters studied on the tricuspid valve. Patients of the 3rd group had pulmonary hypertension, an increase in splenic vein diameter, and the spleen area. After 6 and 12 months. in all groups, there was an improvement in right ventricular diastolic filling. In group 3, pulmonary artery systolic pressure after 6 months decreased by 6,0 (3,7; 6,5)% (p=0,03), after 1 year by another 8,6 (5,4; 9,1)% (p=0,017). The diameter of the inferior vena cava after 6 months decreased by 4,8 (2,0; 10,2)%, and a year later by another 5,0 (4,4; 6,1)% (p=0,001); the splenic vein diameter decreased after 6 months by 7,3 (3,2; 10,4)% (p=0,005). The left ventricular (LV) global systolic strain reduced after 3, 6 and 12 months.Conclusion. All patients 3 months after COVID-19 had cardiac hemodynamic disorders, which further by 6 and 12 months tend to normalize right ventricular diastolic filling. In patients with CT 3-4, by 12 months after the disease, normalization of pulmonary artery systolic pressure was also noted, a decrease in the diameter of the inferior vena cava and splenic veins, and a decrease in the global LV systolic strain persisted.
ESTRUTURANTES DO HABITUS PROFESSORAL DE PROFESSORES BACHARÉIS DO INSTITUTO FEDERAL DE MINAS GERAIS (IFMG): O CAPITAL PROFISSIONAL
Authors: Oliveira Walas Leonardo de , Silva Marilda da 
Published: July 2023

O objetivo do presente trabalho foi apreender estruturantes do habitus professoral de professores bacharéis que atuam no Instituto Federal de Educação, Ciência e Tecnologia de Minas Gerais (IFMG). Pesquisa predominantemente qualitativa. Estudo de caso. Sujeitos: 12 professores bacharéis sem formação em licenciatura. Coleta de dados: entrevista e observação de aulas. Fundamentação teórica: habitus, campo e capital da Teoria Geral do Campo em Pierre Bourdieu e habitus professoral, uma inflexão do habitus. Organização e análise dos dados: por meio das possibilidades da Análise de Conteúdo. Resultados: apreender estruturantes do habitus professoral de profissionais, professoras e professores, que atuam na Educação Profissional e Tecnológica (EPT), nos possibilitou um achado que pode ser um divisor de águas para se pensar as características “formativas” dos respectivos profissionais, tendo em vista a especificidade desse nível de ensino, o capital profissional. Mas, o capital profissional exige mais escrutíneos, pois ele interfere em questões institucionais de largo espectro do âmbito da formação e atuação de docentes para toda a EPT brasileira e não apenas a oferecida no e pelo IFMG.
Video-assisted thoracoscopic treatment of discogenic thoracic myelopathy
Authors: Kubetsky Yu. E. , Anisimov E. D. , Khalepa R. V. , Loparev E. A. , Rzaev D. A. , Amelina E. V. , Kelmakov V. V. 
Published: July 2023

Background. Clinically significant herniated intervertebral discs in the thoracic spine are quite rare, and the tactics of surgical treatment of a group of patients with this pathology remains debatable. The thoracoscopic technique has a number of advantages in the form of a shorter hospital stay and less severe pain in the surgical area compared to standard posterior surgical access.Aim. To evaluate the results of videothoracoscopic treatment of patients with discogenic thoracic myelopathy.Material and methods. The article analyzes the results of treatment of 21 patients hospitalized at the Federal Neurosurgical Center (Novosibirsk). According to the results of the examination, the patients were divided into 2 groups: with mild (10 patients) or ossified (11 patients) hernias. Each patient underwent video‑assisted thoracoscopic microdiscectomy. The median follow‑up was 29 (4 to 72) months.Results. At the time of discharge, 18 (85.7 %) patients showed no deterioration in neurological status, 2 (9.5 %) patients showed positive dynamics in the form of a decrease in the degree of hypertonicity and the degree of lower paraparesis. A satisfactory result of treatment in the late postoperative period was achieved in 14 (66.7 %) patients.Conclusion. Video‑assisted thoracoscopic surgery is an effective and safe method of surgical treatment of patients with discogenic thoracic myelopathy.
A variant of the course of chronic subdural hematoma (clinical case)
Authors: Malyshev O. B. , Agzamov I. M. , Khrushch A. L. , Shirinsky A. A. 
Published: July 2023

Introduction. Doctors of various specialties face difficulties in diagnosing chronic subdural hematomas (CSDH) at different stages, usually due to the lack of an evident causal relationship between neurological manifestations of subdural hematoma and the head injury sustained several weeks or even months prior to the patient's examination. Clinically, CSDH can mimic multiple neurological disorders, and before the patient is referred to a neurosurgeon, they might be inspected by various specialists such as neurologists, physicians, traumatologists and even psychiatrists. As a results, the patient initially does not receive specialized treatment, which directly affects postoperative mortality and disabi lity in patients with this pathology.Aim. In this paper we aim to describe a rare clinical case of atypical course of CSDH. A clinical case. A 54‑year‑old woman, after falling from a ladder about 2 m high, 1.5 months after the injury, developed depression of consciousness and tetraparesis up to 2–3 points according to the Medical research counsil Weakness scale. After examination, the patient was verified to have a chronic hemispheric subdural hematoma of large volume, transverse dislocation of the median structures of the brain by 16 mm. An injury to the cervical spine was ruled out. The patient was operated on, HSDG was removed from 2 milling holes, achieving complete washing of the hematoma and, subsequently, complete restoration of motor functions in the patient – 5 point by Glasgow outcome scale (5‑point Glasgow scale).Discussion. This paper presents the results of treatment and observation of patients with atypical course of CSDH of traumatic origin. The main method of treatment is the surgical removal of chronic subdural hematoma by a minimally invasive method: the imposition of 2 trefination holes with removal by evacuation of CSDH.Conclusion. The problem of early detection of chronic subdural hematomas is extremely relevant. Careful collection of anamnesis, the alertness of doctors of related specialties on this problem, the mandatory use of neuroimaging methods (computer and magnetic resonance imaging) will often help to correctly and timely diagnose, start treatment on time and increase the patient’s chance of recovery, even in cases of atypical course.
LA FUERZA GRAVITACIONAL DE LOS DÍAS COMUNES Teoría crítica y vida cotidiana en Bolívar Echeverría
Authors: Smart Ángeles 
Published: July 2023

El trabajo versa sobre lo que podría llamarse una “filosofía de la vida cotidiana” en el pensamiento de Bolívar Echeverría. Focaliza en la tematización que el autor ha realizado sobre la fuerza gravitacional que los “días comunes” -ya sean aquellos que se organizan en torno a la rutina del trabajo y el consumo o los que rompen con el continuo del devenir a través del juego, la fiesta y el arte- tienen en el desarrollo histórico. Asimismo recorre dos aspectos fundamentales de una teoría crítica de la vida cotidiana en la modernidad capitalista: la subsunción técnica y lingüística que operan en el transcurrir de los días corrientes. Echeverría sostiene que en su aparente intrascendencia, en la constante e ininterrumpida sucesión, los días comunes, instauran y proyectan principios estructuradores que colaborarán en la reproducción de lo que existe, o por el contrario, irán, de a poco y soterradamente, sembrando las condiciones para su destrucción.
O PRAZER DO PODER NA BIOPOLÍTICA. UM DIÁLOGO ENTRE FOUCAULT, MBEMBE E PRECIADO
Authors: Carmo Temple Giovana , Lorenzetti Collares Regiane 
Published: July 2023

O objetivo deste texto é analisar de que maneira Foucault reflete, em sua produção dos anos 1970, a relação entre prazer e poder nas configurações de uma biopolítica, da política implicada em nossas próprias vidas. Veremos, assim, como a prática do exercício do poder parece se reforçar pelo prazer do seu exercício na medida em que, na biopolítica, a subjetividade se torna efeito e instrumento do poder não apenas pela sujeição, mas sobretudo pelo prazer em exercer o poder. Na sequência, será problematiza a extensão da relação entre prazer e poder nas noções de “necropolítica” e “farmocopornografia”, por meio das quais Mbembe e Paul Preciado, respectivamente, retomam a noção de biopolítica.

Palavras-chave: Biopolítica. Necropolítica. Farmacopornografia. Poder.
MORTALIDADE INFANTIL: CORRELAÇÃO DA COBERTURA DE EQUIPES DE SAÚDE DA FAMÍLIA EM 2017 E 2018 NO ESTADO DE SANTA CATARINA.
Authors: Laurindo Dione Lúcia Prim , De Souza Sabrina da Silva , Da Cunha Ana Cláudia , Suplici Samara Eliane Rabelo , Zamprogna Katheri Maris 
Published: July 2023

Este estudo tem por objetivo avaliar o indicador e sua relação com a cobertura populacional pelas equipes de Saúde da Família nos municípios de Santa Catarina. Método: Estudo transversal que utilizou dados secundários do banco de dados oficiais do Estado de Santa Catarina dos indicadores de Mortalidade infantil e cobertura populacional pelas equipes de Saúde da Família nos anos de 2017 e 2018. Análise descritiva incluindo média, desvio padrão, mediana, percentil 25 e 75, mínimos e máximos para todos os indicadores de estudo e correlação de Spearman. Resultados: a matriz de correlação dos indicadores demonstrou que não houve correlação significativa entre o indicador de mortalidade infantil e a cobertura da atenção básica nos anos do estudo em Santa Catarina. Ao relacionar o número de municípios que tiveram resultado superior e inferior ao resultado alcançado pelo Estado dos dois indicadores aqui analisados, percebemos que o aumento da cobertura da atenção básica não está diretamente relacionado à diminuição da mortalidade infantil. Conclusão: A análise dos indicadores e suas correlações podem contribuir para o direcionamento de políticas públicas que qualifiquem a rede assistencial e melhorem as condições de vida, sobretudo, para as crianças.
СОЦИАЛЬНОЕ БЛАГОПОЛУЧИЕ КАК ФЕНОМЕН ОБЩЕСТВА МОДЕРНА
Authors: Александрова Мария Александровна 
Published: July 2023

Актуальность работы обусловлена фундаментальным значением социального благополучия вразвитии и процветании социума. В статье анализируется феномен социального благополучия всовременном обществе в контексте социальной философии. Цель: на основе анализа научной литературы обосновать тезис о том, что социальное благополучие является феноменом современногообщества модерна и наиболее полно раскрывается в таких формах бытия, как объективное и субъективное благополучие. Объективные характеристики благополучия выступают в качестве измеримых показателей − экономических, экологических социальных кванторов (таких как уровень образования, занятость населения и пр.) – уровень безопасности, здоровья, политическая стабильность, здоровья и пр. Субъективные характеристики включают уровень счастья, удовлетворенность жизнью, личностный рост и развитие, психологическое благополучие, осознание себя частью общества, межличностные взаимоотношения (с семьей, друзьями, в трудовом коллективе) и пр. Методы: методы экспликации и компаративного анализа, исторический, социально-философский. Результаты: проанализировано, что феномен социального благополучия является предметом исследования гуманитарных наук (истории, социологии, философии, психологии). Обосновано, что социальное благополучие − важная доминанта общества модерна, выступающая ресурсом становления отношения человека к своему досугу, счастью, успеху. Социальное благополучие представляет собой диалектическое единство объективного и субъективного благополучия. Выводы: автором реализован научный проект взаимосвязи социального благополучия и досуга. Представлена классификация основных подходов к анализу социального благополучия. Показана диалектическая связь субъективного и объективного социального благополучия, принимающая особые формы взаимодействия с такими явлениями социума, как счастье, досуг, процветание.
Análise dos mecanismos de busca de repositórios institucionais de acesso aberto
Authors: Almeida Lucelia da Silva , Dias Thiago Magela Rodrigues 
Published: July 2023

Introdução: A comunicação científica em seu novo modelo de atuação, possibilitando o acesso à informação de forma aberta, tem contribuído para que a sociedade recorra as produções científicas de forma facilitada, o que se deu devido a sua disponibilização em periódicos e repositórios institucionais de acesso aberto. A recuperação da informação, em contexto científico, confere acesso a produção intelectual a partir da possibilidade de sua busca em sistemas de recuperação. Objetivo: analisar os sistemas de recuperação da informação (SRI) com base nas ferramentas de busca dos repositórios institucionais brasileiros de teses e dissertações disponibilizados na BDTD e suas bases de dados, comparando-os com os parâmetros estabelecidos pelo IBICT. Metodologia: Realiza pesquisa bibliográfica sobre o tema, pesquisa documental a partir do acesso aos padrões, diretrizes e manuais fornecidos pelo IBICT e estudo de caso a partir da análise dos sistemas de recuperação das bases dos repositórios vinculados a BDTD. Resultados: Confere que as instituições participantes da BDTD não necessariamente precisam ater-se aos padrões de forma parcial estabelecidos pelo IBICT, sendo necessário apenas que estas atribuam a seus repositórios os padrões de metadados obrigatórios, juntamente com o uso do protocolo OAI-PMH e o uso de tecnologia XML para que ocorra a coleta dos dados para disponibilização no portal nacional da BDTD. Conclusão: os sistemas de recuperação da informação dos repositórios possuem ferramentas tecnológicas e especificações que conferem a navegação nos sistemas por partes dos usuários, contribuindo para a melhor experiência de busca e acesso a informações pertinentes as questões informacionais dos mesmos.