bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies
Authors: Findlay Andrew R. , Weihl Conrad C. 
Published: December 2022

ABSTRACT

PURPOSE OF REVIEW
This article discusses the foundational concepts of genetic treatment strategies employed in neuromuscular medicine, as well as the importance of genetic testing as a requirement for applying gene-based therapy.

RECENT FINDINGS
Gene therapies have become a reality for several neuromuscular disorders. Exon-skipping and (in Europe) ribosomal read-through approaches are currently available to a subset of patients with Duchenne muscular dystrophy. Microdystrophin gene replacement has shown promise and is nearing the final stages of clinical trials. Numerous gene-based therapies for other muscular dystrophies and congenital myopathies are progressing toward approval as well.

SUMMARY
Muscular dystrophies and congenital myopathies are a heterogenous group of hereditary muscle disorders. Confirming a diagnosis with genetic testing is not only critical for guiding management, but also an actual prerequisite for current and future gene therapies. Recessive loss-of-function or dominant haploinsufficiency disorders may be treated with gene replacement strategies, whereas dominant negative and toxic gain-of-function disorders are best addressed with a variety of knockdown approaches. It is important to recognize that many therapeutics are mutation specific and will only benefit a subset of individuals with a specific disease.
Afro-Autarky
Authors: Blanes Ruy Llera , Samussuku Hitler 
Published: December 2022

Abstract
This dispatch examines contemporary activist movements in Angola and their political utopias, namely their relevance to citizenship and governance, and their increasing importance in the political landscape. The authors describe the civic mobilization toward the implementation of a municipal electoral system (autarquia) and argue that it poses an Afro-utopian challenge: the issue of autarky, or the recognition of self-organization and self-sufficiency vis-à-vis postcolonial autocratic rule.
The fission yeast kinetochore complex Mhf1–Mhf2 regulates the spindle assembly checkpoint and faithful chromosome segregation
Authors: Jian Yanze , Nie Lingyun , Liu Sikai , Jiang Yueyue , Dou Zhen , Liu Xing , Yao Xuebiao , Fu Chuanhai 
Published: December 2022

ABSTRACT
The outer kinetochore serves as a platform for the initiation of the spindle assembly checkpoint (SAC) and for mediating kinetochore–microtubule attachments. How the inner kinetochore subcomplex CENP-S–CENP-X is involved in regulating the SAC and kinetochore–microtubule attachments has not been well characterized. Using live-cell microscopy and yeast genetics, we found that Mhf1–Mhf2, the CENP-S–CENP-X counterpart in the fission yeast Schizosaccharomyces pombe, plays crucial roles in promoting the SAC and regulating chromosome segregation. The absence of Mhf2 attenuates the SAC, impairs the kinetochore localization of most of the components in the constitutive centromere-associated network (CCAN), and alters the localization of the kinase Ark1 (yeast homolog of Aurora B) to the kinetochore. Hence, our findings constitute a model in which Mhf1–Mhf2 ensures faithful chromosome segregation by regulating the accurate organization of the CCAN complex, which is required for promoting SAC signaling and for regulating kinetochore–microtubule attachments.
This article has an associated First Person interview with the first author of the paper.
Atopic dermatitis – clinical phenotypes and related therapeutic possibilities
Authors: Gieroba Krzysztof , Gładysz Konrad , Szydłowska Justyna , Żuchnik Olga , Król Olgierd , Kwiatkowski Piotr , Kuczyńska Beata , Czelej Magdalena , Szydłowski Marcin , Kłos Aleksander 
Published: December 2022

Introduction: Atopic dermatitis (AD) is the most common chronic inflammatory skin disease. It is characterized by damaged epidermal barrier, skin dysbiosis and pruritus. It affects up to 20% of the population of developed countries. AD represents a heterogeneous condition belonging to the spectrum of atopic diseases. It occurs in the form of multiple phenotypes with varied pathogenesis requiring different therapeutic strategies.
Aim of the study: To summarize the current state of knowledge on AD phenotypes and related therapeutic options.
Methods and materials: A review of the literature available in PudMed and Google Scholar databases was conducted. The following keywords were used: "atopic dermatitis", "atopic dermatitis phenotypes", "atopic dermatitis current treatment".
Results: There are many phenotypes of AD. However, due to the lack of a consistent classification system, identifying phenotypes is greatly hindered. It is possible to use the division of phenotypes into groups based on age, lesion topography, lesion morphology and patient ethnicity. Various drugs are available for the treatment of AD, but therapeutic strategies for specific phenotypes are sparse and insufficiently understood due to the problem of identifying phenotypes and the complexity of the endotypes behind them. Treatment of AD is not currently based on phenotype-specific targeted therapy.
Conclusion: Development of personalized therapy for the treatment of AD requires additional research using uniform definitions of phenotypes and endotypes. It is necessary to create a classification system for AD phenotypes.
Autoimmune thyroid diseases in patients on the vegan diet
Authors: Białczyk Aleksandra , Stadler-Szajda Justyna , Kamińska Barbara 
Published: December 2022

Introduction and purpose: Autoimmune thyroid diseases are the most common thyroid dysfunctions. Among them, we distinguish entities such as Hashimoto's disease and Graves' disease. Diet is one of the environmental factors that may influence the onset and progression of autoimmune diseases. A vegan diet is characterized by the complete elimination of animal products and a greater supply of fiber, vitamins, and unsaturated fats. The study aimed to evaluate the influence of a vegan diet on the course of autoimmune thyroid diseases.
A brief description of the state of knowledge: Numerous studies have shown significant changes in the severity of symptoms and blood laboratory parameters, as well as in the composition of the microbiota among people using only a vegan diet, which could indicate its protective effect on the body. However, an inadequately balanced vegan diet may predispose to deficiencies of key micronutrients such as vitamin B12 or iodine and selenium, so special attention should be paid to the appropriate balance of consumed products, especially in the case of people suffering from AITD.
Conclusions: Reports from various studies may be the basis for developing a rational diet, which will be one of the elements of AITD prevention or treatment. It is essential to remember the proper balancing of meals that will ensure an adequate supply of microelements or vitamins, which is especially important in autoimmune thyroid diseases.
Urinary tract infection in children - short versus standard duration antibiotic therapy
Authors: Namroży Natalia , Dubel Robert , Czekaj Aleksandra , Ruszel Kinga , Dubel Julia , Merkisz Konrad , Nemeczek Sylwia , Grzybowski Jakub , Jaskuła Karolina , Orłowski Władysław 
Published: December 2022

Background: Urinary Tract Infection (UTI) is a common infection in children. Prompt diagnosis and appropriate treatment are very important to reduce the morbidity. Pediatric urologists are now faced with a situation that requires appropriate action- antibiotic resistance of urinary tract pathogens is significantly increasing worldwide.
Objective: The purpose of our work is to present the clinical aspects of antibiotic use in pediatric urology. To present the benefits of both short antibiotic therapy and standard antibiotic therapy.
Methods and materials: A literature review was conducted in the PubMed database, using the key words: "urinary tract infection", "children", "short-term antibiotics", "antibiotics", „nephrology”.
Results: Short-term antibiotic therapy for lower urinary tract infections appears to be as effective as standard therapy. Studies show that shorter antibiotic therapy also works well for pyelonephritis in pediatric patients. Children who have received a short course of antibiotic therapy may also be less likely to get subsequent infections in the future with a more resistant strain of the same uropathogen.
Conclusion: Tried to reconcile the latest reports on diagnosis, treatment and follow-up in pediatric UTIs with existing practice and opinions on the use of short as well as standard antibiotic therapy. However, more clinical trials are needed to confirm efficacy, and to assess side effects of the therapy
Mortgage Servicing Fees and Servicer Incentives During Loss Mitigation
Authors: Diop Moussa , Zheng Chen 
Published: December 2022

We study incentive problems associated with the compensation of servicers during default remediation. First, we fill a gap in the literature by identifying stylized facts about servicing fees. Next, we present evidence showing that servicing fees drive mortgage modifications and foreclosures, likely to the detriment of investors. Servicers modify loans paying high servicing fees and delay their foreclosure to protect servicing cash flows. These effects are causal. Voluntary mortgage renegotiation by servicers is unlikely to reduce foreclosures. In addition to ex post government intervention, special servicing and innovative mortgage contracts allowing for affordable modifications that benefit investors may improve renegotiation outcomes. This paper was accepted by Tomasz Piskorski, finance.
Improving optical thickness monitoring by including systematic and process-influenced transmittance deviations
Authors: Bruns Stefan , Farr Philipp , Melzig Thomas , Terhürne Jörg , Vergöhl Michael 
Published: December 2022

During optical monitoring using broadband transmittance measurement,
the accuracy depends on how both the substrate and the optical path
are aligned. We present a correction procedure to improve the accuracy
of the monitoring, even if the substrate has features such as
absorption or if there is misalignment of the optical path. The
substrate in this case can either be a test glass or a product. The
algorithm is proven by experimental coatings which were produced with
and without the correction. Additionally, the optical monitoring
system was also used to perform an in situ quality
check. The system allows a detailed spectral analysis of all
substrates with a high position resolution. Both plasma and the
temperature effects on the central wavelength of a filter are
identified. This knowledge enables the optimization of the following
runs.
Vacuum compatible vertical-laser alignment method based on an oil mirror and air-spaced doublets
Authors: Zeng Tao , Bai Yang , Li Zhengkun , Wang Yue 
Published: December 2022

In the field of precision measurement and metrology, a vertical laser
is a valuable measurement tool. Its applications include, but are not
limited to, the measurement of vertical displacement and attitude in
the Kibble balance and joule balance for kilogram realization. A
vacuum compatible, vertical-laser alignment method based on an oil
mirror and air-spaced doublets is proposed to measure and compensate
the vertical deviation angle of the laser beams. Dimethyl silicone oil
was selected as the natural direction reference, and the air-spaced
doublets were designed as the focusing elements to make the deviation
angle correspond to a distance of spots. The corresponding alignment
system is vacuum compatible, nonmagnetic, and can be miniaturized. In
addition to the mass traceability in the realization of a kilogram,
this system can also be applied to the gravity measurements of outer
space planets in the field of aerospace science. The off-axis error,
which is the highly influential systematic error of the alignment
system, is suppressed by replacing the plano-convex lens with a
combined optical element—“air-spaced doublets+aperture.” The
performance of the alignment system has been investigated by
experiments. The Type B uncertainty of the alignment system was
evaluated to be 19.19 µrad.
Predictors of health self-management behaviour in Kazakh patients with metabolic syndrome: A cross-sectional study in China
Authors: Ni Zhihong , Wang Yulu , Jiang Ning , Jiang Xiaolian 
Published: December 2022

Background
Metabolic syndrome (MS) is common among Muslim patients living in China, most of whom are Kazakh adults. Continuous and effective health self-management plays a critical role in preventing negative health outcomes for individuals with MS. However, Muslim minority patients with MS face many difficulties in actively participating in health self-management, and the factors supporting their successful self-management of MS remain unclear.

Objective
This study aimed to identify the factors predicting health self-management behaviour among Kazakh MS patients and provide empirical evidence for establishing recommendation guidelines or intervention programmes for health self-management among Muslim minorities.

Methods
A cross-sectional study was conducted in Xinjiang Province, China, with the use of convenience sampling to explore the current health self-management behaviour of 454 Kazakh MS patients and its influencing factors. Univariate analysis and logistic regression were used to analyse the data.

Results
The total health self-management behaviour score of Kazakh MS patients was 85.84±11.75, and the weaknesses in self-management behaviour were mainly reflected in three dimensions: disease self-monitoring, emotion management and communication with physicians. The significant positive predictors of health self-management behaviour were sex, education, family monthly income per capita, weight, knowledge of MS, and self-efficacy, while the significant negative predictors were blood pressure, the number of MS components, chronic disease comorbidities, and social support (objective support and utilization of support).

Conclusion
The health self-management behaviour of Kazakh MS patients is poor. Health care providers should aim to develop culturally specific and feasible health management intervention programmes based on the weaknesses and major modifiable influencing factors in Muslim minority MS patient health self-management, thus improving the health outcomes and quality of life of patients.
Towards development of a novel approach for enhancement of TB diagnostic services during the pandemic: A case of primary health care clinics in eThekwini district KwaZulu-Natal: A study protocol
Authors: Dlangalala Thobeka , Musekiwa Alfred , Mashamba-Thompson Tivani 
Published: December 2022

Introduction
The COVID-19 pandemic has greatly impacted TB diagnostic services in high TB burden settings. This has caused cases to go undetected and increased the number of TB deaths in 2020. Renewed efforts to improve the resilience of TB services during pandemics are required. Therefore, the current study aims to propose a novel approach for conducting TB diagnostic services in high burden settings during the pandemic.

Methods/Design
The proposed study will be conducted in three phases. During the first phase, a geospatial analysis to assess the geographic accessibility of TB diagnostic services will be conducted. In the second phase, the effect of COVID-19 on TB diagnostic services will be determined using an interrupted time series analysis. During the third phase, the barriers and enablers of TB diagnostic services will be explored using patient interviews and a vertical audit. The fourth phase of the study will be guided by the outcomes of the previous three phases where a nominal group technique with key stakeholders will be conducted to propose a novel means for conducting TB diagnostic services during the pandemic. The data of the study will be analyzed using the latest version of ArcGIS, Stata software.

Discussion
The study has received full ethical approval from ethics committees. The results together with input from relevant TB stakeholders will be used to develop a new approach to conducting TB diagnostic services at Primary healthcare clinics.
Hemodynamic impact of early mobilization in critical patients receiving vasoactive drugs: A prospective cohort study
Authors: Borges Larissa Faria , Fraga Righetti Renato , de Souza Francisco Davi , Pereira Yamaguti Wellington , Barros Cassia Fabiane De 
Published: December 2022

Background
Vasoactive drugs are one of the most common patient-related barriers to early mobilization. Little is known about the hemodynamic effects of early mobilization on patients receiving vasoactive drugs. This study aims to observe and describe the impact of mobilization on the vital signs of critical patients receiving vasoactive drugs as well as the occurrence of adverse events.

Methods
This is a cohort study performed in an Intensive Care Unit with patients receiving vasoactive drugs. All patients, either mobilized or non-mobilized, had their clinical data such as vital signs [heart rate, respiratory rate, systolic blood pressure, diastolic blood pressure, mean arterial pressure, and oxygen saturation], type and dosage of the vasoactive drug, and respiratory support collected at rest. For mobilized patients, the vital signs were also collected after mobilization, and so was the highest level of mobility achieved and the occurrence of adverse events. The criteria involved in the decision of mobilizing the patients were registered.

Results
53 patients were included in this study and 222 physiotherapy sessions were monitored. In most of the sessions (n = 150, 67.6%), patients were mobilized despite the use of vasoactive drugs. There was a statistically significant increase in heart rate and respiratory rate after mobilization when compared to rest (p<0.05). Only two (1.3%) out of 150 mobilizations presented an adverse event. Most of the time, non-mobilizations were justified by the existence of a clinical contraindication (n = 61, 84.7%).

Conclusions
The alterations observed in the vital signs of mobilized patients may have reflected physiological adjustments of patients’ cardiovascular and respiratory systems to the increase in physical demand imposed by the early mobilization. The adverse events were rare, not serious, and reversed through actions such as a minimal increase of the vasoactive drug dosage.
CRÍTICAS AO ESTADO PÓS-DEMOCRÁTICO DE DIREITO NA LITERATURA DE JOSÉ SARAMAGO: A RELATIVIZAÇÃO DOS DIREITOS DA PERSONALIDADE DO HOMEM DUPLICADO
Authors: Saldanha Rodrigo Róger , Oliveira José Sebastião de 
Published: December 2022

Contextualização: A pesquisa trata sobre a relativização dos Direitos de Personalidade durante o processo de edificação do fenômeno do Estado Pós-Democrático de Direito.
Objetivo: tratar sobre o fenômeno de desconstrução do Estado Democrático de Direito ante as influências do neoliberalismo e seus reflexos na judicialização da vida e demais avanços em limites de direitos constituídos ao longo da história, que hoje tornam-se flexíveis diante do poder econômico, fazendo relação com a obra “o homem duplicado” de José Saramago, que retrata em seu romance o paradoxo de um professor de história que descobre a perda da identidade na sociedade globalizada.
Metodologia: Utilizou-se do método hipotético dedutivo, bem como, pesquisa bibliográfica, em revista e periódicos especializados, obra literária, e demais referências que destacaram o caso exemplificado, fazendo assim, uma análise comparativa de teorias contemporâneas.
Análisis del perfil hematológico de los pacientes con la enfermedad por coronavirus 2019 (COVID-19)
Authors: Setio Felisia , Muhadi Darwati , Nurulita Asvin , Arif Mansyur , Djaharuddin Irawaty , Seweng Arifin 
Published: December 2022

Resumen

Objetivos
Se han propuesto varios parámetros hematológicos como marcadores de gravedad de la COVID-19. Aún no se han realizado estudios en Makassar (Indonesia), para evaluar potenciales diferencias en el perfil hematológico de los pacientes según la gravedad de la enfermedad y las comorbilidades que presentan. Así mismo, tampoco se ha estudiado la correlación entre perfil hematológico y umbral de número de ciclos (Ct). El objetivo de este estudio es investigar posibles diferencias en el perfil hematológico de los pacientes con COVID-19 según la gravedad de la enfermedad y sus comorbilidades, así como determinar la posible correlación entre el perfil hematológico y el Ct en estos pacientes.

Métodos
Se realizó un estudio retrospectivo transversal de pacientes con COVID-19 hospitalizados en el hospital del Dr. Wahidin Sudirohusodo en Makassar entre junio y agosto de 2020. Los datos sobre el perfil hematológico, niveles de Ct, comorbilidades y gravedad de la COVID-19 se extrajeron de la base de datos del hospital.

Resultados
De los 217 pacientes, 102 (47%) eran hombres, frente a 115 (53%) mujeres. El número de pacientes con enfermedad leve o moderada fue de 127 (58.5%) mientras que 90 pacientes presentaban enfermedad grave (41.5%). En total, 143 pacientes (65%) no tenían comorbilidades, mientras que 74 pacientes (35%) sí las tenían. La amplitud de la distribución eritrocitaria, el recuento leucocitario, neutrófilos y monocitos, y la relación neutrófilos-linfocitos fueron significativamente superiores en los pacientes con enfermedad grave que en los que presentaban enfermedad leve o moderada (p<0,05). Así mismo, los pacientes graves presentaron un recuento de glóbulos rojos, hemoglobina, hematocrito, linfocitos y trombocitos significativamente inferior al de los pacientes con enfermedad leve o moderada. No se observaron diferencias significativas en el perfil hematológico según las comorbilidades, ni correlación alguna entre este y los niveles de Ct, excepto para el recuento de eosinófilos (r=0,161; p=0,018).

Conclusiones
Nuestra hipótesis era que el perfil hematológico podría predecir la gravedad de la enfermedad en pacientes con COVID-19. Además, el recuento de eosinófilos debería tenerse en cuenta a la hora de predecir la infectividad de un paciente con COVID-19.
Embedding education into clinical laboratory professional training to foster sustainable development and greener practice
Authors: Scott Sheri 
Published: December 2022

Abstract
It has become apparent that the climate crisis is reaching critical levels and Governments and key organisations are recognising the need for change. A review of current literature reveals very little published research concerning the impact of clinical laboratory practice on the carbon footprint of healthcare. For a clinical laboratory to become more environmentally sound, key target areas of focus are required. With sustainability becoming a key consideration for course development, employing educational principles such as Education for Sustainable Development (ESD) in the form of Sustainability in Quality Improvement (SusQI), Quality Improvement objectives can be met, while benefitting the patient and the environmental impact of organisation.