bluuebunny/crossref_metadata_2025_split huggingface dataset:
Non-syndromic hearing loss: clinical and diagnostic challenges
Authors: Vona Barbara , Doll Julia , Hofrichter Michaela A. H. , Haaf Thomas 
Published: December 2021

Abstract
Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over 120 genes that have been associated with non-syndromic hearing loss and many more that are associated with syndromic forms. Despite an increasing number of genes that have been implemented into routine molecular genetic diagnostic testing, the diagnostic yield from European patient cohorts with hereditary hearing loss remains around the 50 % mark. This attests to the many gaps of knowledge the field is currently working toward resolving. It can be expected that many more genes await identification. However, it can also be expected, for example, that the mutational signatures of the known genes are still unclear, especially variants in non-coding or regulatory regions influencing gene expression. This review summarizes several challenges in the clinical and diagnostic setting for hereditary hearing loss with emphasis on syndromes that mimic non-syndromic forms of hearing loss in young children and other factors that heavily influence diagnostic rates. A molecular genetic diagnosis for patients with hearing loss opens several additional avenues, such as patient tailored selection of the best currently available treatment modalities, an understanding of the prognosis, and supporting family planning decisions. In the near future, a genetic diagnosis may enable patients to engage in preclinical trials for the development of therapeutics.
Peripheral sensory neuropathies – pain loss vs. pain gain
Authors: Cox James J. , Woods C. Geoffrey , Kurth Ingo 
Published: December 2021

Abstract
Peripheral sensory neurons are afferent neurons that innervate the skin, joints, bones, muscles, and mucosal tissues. By converting different stimuli into action potentials, they transmit signals for the sensing of temperature, touch, pressure, or pain. This review discusses the known Mendelian disorders which affect pain sensing in humans. For painlessness, these disorders can be classified as developmental, neurodegenerative, or functional, where pain-sensing neurons (nociceptors) are present but cannot be activated or produce action potentials. Affected patients suffer from numbness with recurrent injuries, burns, and poorly healing wounds. For Mendelian disorders of excess pain, aberrant overactivity of nociceptors is a hallmark and leads to paroxysmal or continuous pain states. Again, the effect can be functional or, as in small fiber neuropathies, can be accompanied by degeneration of small unmyelinated nerve fibers in the skin. About 20 different genes are known to cause Mendelian pain disorders and the molecules involved are of general interest for human pain research and as analgesic targets. Comprehensive genetic testing is the key to early diagnosis and adaptation of clinical management.
On the differential diagnosis of neuropathy in neurogenetic disorders
Authors: Cirak Sebahattin , Daimagüler Hülya-Sevcan , Moawia Abubakar , Koy Anne , Yis Uluc 
Published: December 2021

Abstract
Neuropathy might be the presenting or accompanying sign in many neurogenetic and metabolic disorders apart from the classical-peripheral neuropathies or motor-neuron diseases. This causes a diagnostic challenge which is of particular relevance since a number of the underlying diseases could be treated. Thus, we attempt to give a clinical overview on the most common genetic diseases with clinically manifesting neuropathy.
Novel strategies to cure imprinting disorders
Authors: Horsthemke Bernhard , Zechner Ulrich 
Published: December 2021

Abstract
In imprinting disorders, where the active copy of an imprinted gene is mutated or lost, there is a unique opportunity for causal treatment by unsilencing the other, dormant allele. Depending on the mechanism by which the allele is silenced, unsilencing can be achieved by epigenetic drugs, antisense-oligonucleotides (ASOs) or epigenome editing. While most of the research is still preclinical, first-in-humans studies with ASOs have started in 2020.
Carrier testing for autosomal recessive disorders: a look at current practice in Germany
Authors: Netzer Christian , Velmans Clara , Erger Florian , Schreml Julia 
Published: December 2021

Abstract
Counseling recurrence risks for monogenic disorders is one of the mainstays of human genetics. However, in practice, consultations concerning autosomal recessive disorders exceed the simple conveyance of a 25 % recurrence risk for future offspring. Medical geneticists should be aware of the multifaceted way in which autosomal recessive disorders can pose a diagnostic and counseling challenge in their daily lives and of the pitfalls they might encounter. Although the intentional or incidental detection of carrier states for autosomal recessive diseases happens more and more frequently, our current practice when clarifying their associated reproductive risks remains unsystematic and often subjectively guided. We question whether the approach of focusing on small recurrence risks for a single familial disease with extensive single-gene tests in the partner of a known carrier truly addresses the counseling needs of a couple seeking preconceptional genetic advice. Different perspectives between patients and medical practitioners (or between different medical practitioners) on “acceptable risks” or the extent to which such risks must be minimized raise the question of whether existing professional guidelines need to be clarified.
Genetic counseling: development of requirements, contents, and quality management in Germany
Authors: Kreuz Friedmar R. 
Published: December 2021

Abstract
To carry out quality management of genetic counseling, it is important to know what genetic counseling exactly means and who the players are. The term “genetic counseling” was first defined by Reed in 1947. It describes a communication process dealing with genetic facts and psychosocial aspects and is an education process, too. It has always been understood in the context of individual and family problems, and is unrelated to eugenics. In 1975 the Ad Hoc Committee of the American Society of Human Genetics published a more detailed description. With the development of new diagnostic techniques and methods in human genetics, the requirements of genetic counseling and its contents changed. Today a genetic counselor has to apply diagnostic, predictive, susceptibility, pharmacogenetic, carrier, prenatal, and preimplantation testing, as well as genetic screening. The German Human Genetic Examination Act (Genetic Diagnosis Act – GenDG) and national and international associations recommend to embed genetic testing into genetic counseling. Based on experiences of the author, some examples of pitfalls in genetic counseling are illustrated, as there are so many individual situations and requests that it seems impossible to carry out quality management. Nevertheless, the Commission for Quality in Genetic Counseling and Clinical Genetics of the Professional Association of German Human Geneticists started a pilot ring trial in 2018 with a given counseling situation. The task was to write the human genetics comment with the help of a checklist containing all issues necessary. The evaluation was conducted with the help of a catalogue of criteria which had been established beforehand and a score adjusted to the individual situation. The first genuine pilot trial was launched in 2020. It represents a possibility for quality management in genetic counseling.
Challenges and opportunities for modeling monogenic and complex disorders of the human retina via induced pluripotent stem cell technology
Authors: Plössl Karolina , Milenkovic Andrea , Weber Bernhard H. F. 
Published: December 2021

Abstract
The human retina is a highly structured and complex neurosensory tissue central to perceiving and processing visual signals. In a healthy individual, the close interplay between the neuronal retina, the adjacent retinal pigment epithelium and the underlying blood supply, the choriocapillaris, is critical for maintaining eyesight over a lifetime. An impairment of this delicate and metabolically highly active system, caused by genetic alteration, environmental impact or both, results in a multitude of pathological phenotypes of the retina. Understanding and treating these disease processes are motivated by a marked medical need in young as well as in older patients. While naturally occurring or gene-manipulated animal models have been used successfully in ophthalmological research for many years, recent advances in induced pluripotent stem cell technology have opened up new avenues to generate patient-derived retinal model systems. Here, we explore to what extent these cellular models can be useful to mirror human pathologies in vitro ultimately allowing to analyze disease mechanisms and testing treatment options in the cell type of interest on an individual patient-specific genetic background.
Cyclopentasiloxane (D5) as a Non-Polar Masking Agent for Water-Sensitive Substrates During Polar Solvent Treatment
Authors: Köhler Karen , Brückle Irene , Henniges Ute 
Published: December 2021

Abstract
D5 (decamethylcyclopentasiloxane), a non-polar solvent that evaporates slowly, was tested for its suitability as a temporary masking agent for water-sensitive media on paper objects undergoing aqueous treatment. Three different treatment-related settings were tested on five different paper types, some prepared with water-soluble inks. In 10-min water immersion treatments, D5 proved largely ineffectual in protecting the water-soluble inks. In conjunction with melt-applications of cyclododecane, the addition of D5 enhanced its barrier function only in one case. To test the ability of D5 to prevent tideline formation, the test samples received applications of water, acetone, and a water-ethanol-mixture, creating an interface with freshly D5-impregnated areas. The papers were evaluated visually (VIS, UVA), some after artificial aging. D5 diminished the formation of visible tidelines in the two internally sized papers with low water absorbency in contact with acetone and the ethanol-water mixture, but did not prevent tidelines in contact with water. It also did not protect water-absorbent paper. The results indicate that D5, which is miscible with ethanol and acetone, may disperse tidelines caused by these solvents, but it proved largely insufficient for protecting media during water immersion.
The thermodynamic theory of action potential propagation: a sound basis for unification of the physics of nerve impulses
Authors: Drukarch Benjamin , Wilhelmus Micha M. M. , Shrivastava Shamit 
Published: December 2021

Abstract
The thermodynamic theory of action potential propagation challenges the conventional understanding of the nerve signal as an exclusively electrical phenomenon. Often misunderstood as to its basic tenets and predictions, the thermodynamic theory is virtually ignored in mainstream neuroscience. Addressing a broad audience of neuroscientists, we here attempt to stimulate interest in the theory. We do this by providing a concise overview of its background, discussion of its intimate connection to Albert Einstein’s treatment of the thermodynamics of interfaces and outlining its potential contribution to the building of a physical brain theory firmly grounded in first principles and the biophysical reality of individual nerve cells. As such, the paper does not attempt to advocate the superiority of the thermodynamic theory over any other approach to model the nerve impulse, but is meant as an open invitation to the neuroscience community to experimentally test the assumptions and predictions of the theory on their validity.
Development of an In Situ Measurement Device for Airfield Pavement Interface Characterization
Authors: Gharbi Maïssa , Broutin Michaël , Roussel Jean-Marie , Chabot Armelle 
Published: December 2021

Abstract
Regular pavement condition evaluation is the key to ensuring a good asset management of in-service pavements, because it allows anticipating and optimizing maintenance or rehabilitation works. In particular, interface bonding conditions between asphalt concrete layers are of major concern because in most cases, structural problems come from interface defects, and furthermore, they have a huge impact on the pavement current mechanical behavior and its remaining service life. Usual structural nondestructive testing devices do not allow assessing this parameter on their own. This is the reason why there is a need for an in situ measurement system. The French Civil Aviation Technical Center (STAC) launched an ambitious research and development program with the objective of developing a proof-of-concept for such a device and associated data analysis methodology, which enables characterization of the interface response for several mechanical solicitations, including rolling-wheel passage or heavy weight deflectometer dynamic impulse load, with a two-fold purpose: a better understanding for research purposes of the interface’s mechanical behavior and its evolution during the life of the pavement and to have at their disposal an operational tool to evaluate the interface bonding condition of in-service pavements. This paper presents the measurement device developed by the STAC. It is inspired by the ovalization system invented in the 1970s by the Laboratoires des Ponts et Chaussées, which consists of measuring the diameter variation of a core-hole in three horizontal directions (longitudinal, transverse, and 45°) during the passage of a rolling-wheel. The first part of the paper focuses on the device development process that led to the final prototype. The second part is dedicated to the 3-D finite element modeling developed for data analysis. The results from a field survey, performed on the STAC’s test facility, are finally presented and compared with numerical simulations.
Impacto de la pandemia de la COVID-19 en el funcionamiento de un servicio público de Ortopedia y Traumatología: nuestro aprendizaje luego de la primera ola
Authors: Ricciardi Guillermo Alejandro , Locaso Fernando , Pérez Martín Alejandro , Soto Arriaga Santiago , Scalambro Santiago , Salinas Ariel Agustín , Riva Mariano , Elorza Alan , Mansilla Diego , Molina Florencia , Urrica Juan , Ricciardi Gustavo , Manterola Sol , Garfinkel Ignacio Gabriel , Carrioli Gabriel Genaro , Ricciardi Daniel Oscar 
Published: December 2021

Introducción: El objetivo principal fue comparar la actividad clínico-quirúrgica de nuestro Servicio de Ortopedia y Traumatología antes de la instauración del plan de contingencia frente a la pandemia de la COVID-19 y durante este, un aspecto relevante para establecer antecedentes que permitan guiar nuestro desempeño ante la segunda ola de casos y futuras contingencias semejantes.
Materiales y Métodos: Estudio analítico observacional longitudinal ambispectivo de los pacientes atendidos en el Servicio de Ortopedia y Traumatología de un hospital del sistema público de la Ciudad Autónoma de Buenos Aires, durante el plan de contingencia frente a la pandemia COVID-19. Como variable de resultado primaria se valoró el número total de cirugías realizadas durante el período de estudio.
Resultados: La pandemia se asoció con menos cirugías totales (p = 0,002), de Guardia (p = 0,000) y de Planta (p = 0,002). Las cirugías totales se redujeron un 81,5%. Las cirugías de urgencia representaron el 97%, diferencia significativa con el período fuera de la pandemia (p = 0,080). Además, el promedio de cirugías por día quirúrgico disponible fue significativamente menor (p = 0,000).
Conclusiones: Creemos que la atención de la enfermedad ortopédica y el trauma musculoesquelético, adaptada a las obligaciones indicadas por el plan nacional y regional de contingencia frente a la pandemia, fue notoriamente menor a nuestro desempeño habitual. Si bien respondimos adecuadamente a las urgencias de nuestra especialidad queda pendiente la posibilidad de estratificar y considerar tipos de pacientes con cuadros pasibles de ser tratados, en forma gradual, durante la pandemia.
Injertos de naranja (Citrus sinensis) y mandarina (Citrus reticulata) en fase de producción
Authors: Pérez-Macias Mercedes , Soto Enio , León-Pacheco Rommel Igor , Rodríguez-Yzquierdo Guastavo Adolfo , Villagrán-Munar Edwin Andrés 
Published: December 2021

Introducción. En Venezuela, los cítricos son el quinto frutal más importante, con una superficie cosechada de 18 084 ha y rendimiento promedio de 14,2 t ha-1, por debajo de la producción mundial. A pesar de ello, hay poca información sobre la fisiología y agronomía de los injertos de cultivares de cítricos más utilizados en el país, como parte de una estrategia para seleccionar las mejores combinaciones (injerto/portainjerto) y las épocas más limitantes para la producción del cultivo. Objetivo. Evaluar a nivel agronómico y fisiológico cinco cultivares de cítricos durante el período 2013-2015. Materiales y métodos. Se realizó un ensayo en plantas de cítricos sembradas entre el período de enero del 2013 y agosto del 2015 en el Centro Nacional de Investigación Agropecuaria, Maracay, Venezuela, en tres repeticiones bajo un diseño completamente al azar, para evaluar variables asociadas al intercambio gaseoso y fenología del cultivo en cinco cultivares de los cítricos más importantes de Venezuela. Resultados. 1) Los árboles de cítricos mostraron apertura parcial de los estomas para incrementar la transpiración y disminuir el estrés por alta temperatura y sequía, sin provocar disminuciones en la tasa de fotosíntesis. 2) Las plantas con los mayores valores promedio en las variables de intercambio gaseoso en los injertos (Cleopatra y Volk) y en el portainjerto (Dancy durante los períodos más secos y Valencia en los más lluviosos), provocaron que las combinaciones de Cleopatra-Dancy, Cleopatra-Valencia, Volk-Valencia y Volk-Dancy, alcanzaran el mayor rendimiento fotosintético durante todos los períodos de evaluación. 3) La fase fenológica de brotación en las plantas de cítricos fueron las fuentes de sumideros más importantes para las tasas de asimilación neta de fotosíntesis. Conclusiones. El cultivar Cleopatra-Dancy tuvo el comportamiento más estable para las variables asociadas al intercambio gaseoso y Volk-Dancy para producir en épocas más secas.
The Effect of STEM-Based Robotic Applications on the Creativity And Attitude of Students
Authors: Tiryaki Aydın , Adıgüzel Sibel 
Published: December 2021

In the present study, the effects of STEM based robotics applications on students' creativity and scientific attitudes in the Electricity Unit of 7th grade have been investigated by using the nested pattern of the mixed method. Sixty students, 30 of whom are the experimental group and the other 30 constitute the control group, attending a post-school course in Istanbul in the academic year of 2018-2019, participated 2 weeks of pre-applications and 4 weeks of applications. TOSRA,to measure attitude towards science, and “Torrance Creative Thinking Test”,to measure creativity, were applied as pre and posttest. The data gained from the tests were analyzed with SPSS 21. Semi-structured interviews' data were analyzed by using content analysis. As a result, it was observed that STEM based robotics applications significantly increased students' creativity and attitudes towards science. Interview findings show that students enjoy using STEM applications that contain applications instead of theoretical knowledge. Using robotic and complex software materials to solve daily life problems, they felt like scientists during the practices and the applications affected their future career choices.Keywords STEM; creativity; robotic application; attitude; TOSRA
Application of improved percutaneous cystolithotripsy in patients with benign prostatic hyperplasia
Authors: Nazarov T. Kh. , Rychkov I. V. , Nikolaev V. A. , Trubnikova K. E. 
Published: December 2021

Introduction. The article presents an improved method of percutaneous cystolithotripsy. The results of its application are described and a comparison is made with the traditional method of transurethral cystolithotripsy with lithoextraction. The study objective is development of a comprehensive method of treating patients with bladder stones arising against the background of bladder outlet obstruction caused by benign prostatic hyperplasia (BPH), assessment of its effectiveness and safety.Materials and methods. The treatment was carried out in 56 patients with bladder stones arising on the background of BPH at the age from 42 to 89 years. According to the proposed method, 20 patients with BPH (main group) were operated on. Transurethral cystolithotripsy (control group) was performed in 36 patients. The results of the performed operations were compared with each other.Results. According to the comparison results, it is noted that the proposed method of percutaneous cystolithotripsy is performed faster and more efficiently, due to the fixation of the calculus in the basket. Due to the presence of a laparoscopic bag that completely isolates the stone from the bladder wall, there were no intraoperative complications. Drug therapy made it possible to quickly level the symptoms of cystitis. The patients were discharged 4-6 days after surgery with a cystostomy, which was removed after treatment for BPH.Conclusion. The proposed complex treatment of patients with bladder stones on the background of BPH is a safe method and has clear advantages over traditional transurethral, contact cystolithotripsy with lithoextraction.
Changes in Composition, Antibacterial and Antifungal Activities of Mentha piperita Essential Oil During Storage
Authors: YEŞİL Meryem , ÖZCAN Mehmet Muharrem , KARA Şevket Metin , ERTÜRK Ömer 
Published: December 2021

Abstract
In this study, effect of storage on chemical composition, antibacterial and antifungal activities of Mentha piperita L. essential oil was investigated. Essential oils of oven-dried plant samples were obtained by hydro-distillation, analyzed by gas chromatography/mass spectrometry and stored in a refrigerator at 4 ⁰C and in a freezer at -20 ⁰C for one, three and six months. Antibacterial and antifungal activity of the essential oils against some gram-positive (Bacillus cereus, Staphylococcus aureus, Bacillus subtilis, Micrococcus luteus), gram-negative (Escherichia coli, Proteus vulgaris, Klebsiella pneumoniae, Yersinia enterocolitica) bacterial strains and fungi (Candida albicans, Aspergillus niger) were evaluated by agar well diffusion method. Storage period antibacterial and antifungal activities of the essential oils increased. In general, essential oils stored at -20 ⁰C produced more antimicrobial activity than those stored at +4 ⁰C. The most affected microorganisms by essential oils were Staphylococcus aureus, Proteus vulgaris and Aspergillus niger. The results of the present study revealed that antibacterial and antifungal properties of Mentha piperita L. essential oil could be preserved and even improved when stored in proper temperature and period.