bluuebunny/crossref_metadata_2025_split huggingface dataset:
An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
Authors: Xu Ting , Shi Liang , Dai Weiqian , Gu Xuefan , Yu Yongguo , Fan Yanjie 
Published: June 2021

Abstract

Objectives
Achondroplasia and hypochondroplasia are the most common forms of disproportionate short stature, of which the vast majority of cases can be attributed to the hotspot missense mutations in the gene FGFR3. Here we presented cases with a novel cryptic splicing variant of FGFR3 gene and aimed to interrogate the variant pathogenicity.

Case presentaiton
In whole exome sequencing of two patients with hypochondroplasia-like features, a de novo intronic variant c.1075 + 95C>G was identified, predicted to alter mRNA splicing. Minigene assay showed that this intronic variant caused retention of a 90-nucleotide segment of intron 8 in mRNA, resulting in a 30-amino acid insertion at the extracellular domain of the protein. This is the first likely pathogenic splicing variant identified in the FGFR3 gene and was detected in one additional patient among 26 genetically unresolved patients.

Conclustions
Our results strongly suggest that c.1075 + 95C>G is a recurrent mutation and should be included in genetic testing of FGFR3 especially for those patients with equivocal clinical findings and no exonic mutations identified.
Neurological and gastrointestinal symptoms as an initial presentation of pediatric thyroid storm: report of three cases
Authors: Nogami Masao , Constantine Shadia , Sai Shuji 
Published: June 2021

Abstract

Objectives
Thyroid storm (TS) is a rare but life-threatening condition caused by decompensated hyperthyroidism. There is no consensus on how to diagnose pediatric TS. We report three pediatric cases of TS presenting with central nervous system (CNS) and gastrointestinal (GI) symptoms as the initial presentation of Graves’ disease.

Case presentation
They were previously healthy adolescents without family history of thyroid disease. CNS symptoms varied from agitation to coma. GI symptoms included abdominal pain, vomiting, and diarrhea. Their laboratory studies revealed thyrotoxicosis and positive result of thyroid-stimulating antibody (TSAb). They were admitted to the intensive care unit (ICU) and received the combination of an antithyroid drug, Lugol’s solution, a beta antagonist, and hydrocortisone. The most severe case was a 13 year-old Japanese girl who presented with loss of consciousness and hemodynamic shock. She died after 5 days of intensive treatment.

Conclusions
Pediatricians should consider TS in the differential diagnosis when a patient exhibits both CNS and GI symptoms.
What defines biomimetic and bioinspired science and engineering?
Authors: Rybicka-Jasińska Katarzyna , Derr James B. , Vullev Valentine I. 
Published: June 2021

Abstract
Biomimicry, biomimesis and bioinspiration define distinctly different approaches for deepening the understanding of how living systems work and employing this knowledge to meet pressing demands in engineering. Biomimicry involves shear imitation of biological structures that most often do not reproduce the functionality that they have while in the living organisms. Biomimesis aims at reproduction of biological structure-function relationships and advances our knowledge of how different components of complex living systems work. Bioinspiration employs this knowledge in abiotic manners that are optimal for targeted applications. This article introduces and reviews these concepts in a global historic perspective. Representative examples from charge-transfer science and solar-energy engineering illustrate the evolution from biomimetic to bioinspired approaches and show their importance. Bioinspired molecular electrets, aiming at exploration of dipole effects on charge transfer, demonstrate the pintail impacts of biological inspiration that reach beyond its high utilitarian values. The abiotic character of bioinspiration opens doors for the emergence of unprecedented properties and phenomena, beyond what nature can offer.
Chirp waveform control to produce broad harmonic plateau and single attosecond pulse
Authors: Liu Hang , Xu Cui-Yan , Jing Xiao-Dan , Qiao Yan , Feng Li-Qiang 
Published: June 2021

Abstract
Waveform control of three kinds of chirped pulses (i.e. βt, βt
2 and βt
3) to produce harmonic spectra and attosecond pulses has been investigated. It is found that by properly choosing the chirps, the chirp delays and the other laser parameters, not only the instantaneous frequency of some specific half profiles can be decreased, but also its intensity can be increased. As a result, the free electron can receive more energy when it accelerates in these regions, thus leading to the extension of the harmonic cutoff and harmonic plateau. Finally, through the Fourier transformation of the harmonic spectra and by superposing some harmonics, three single attosecond pulses with the durations of 30 as, 33 as and 39 as can be obtained.
III. Die Summa Monacensis und ihre verwandten Werke
Authors: Genka Tatsushi 
Published: June 2021

Abstract

The Summa Monacensis and its Relatives. In his study on the birth of the Parisian school of canon law Peter Landau argues that the Summa Parisiensis was not written in Paris, as has commonly been thought, but in Sens, and that the Summa Monacensis marks the beginning of the Parisian school of canon law. The question of precedence having remained open, the Summa Monacensis and and its relatives, the so-called circle of the Summa Monacensis, indeed are an important foundation of the Parisian school of canon law. The present study tries to elucidate the internal relations of the circle of the Summa Monacensis. More precisely, drawing on some major works of the circle, it tries to prove Stephan Kuttner’s hypothesis of a common source attributed to an unknown master. It will be argued that there seems to have been a common source, of which each work of the circle represents a unique form of tradition. Following Landau’s argumentation, it will also be argued that the common source should be attributed to the author of the Summa Monacensis.
“Because his mother was a Saracen” Pope Alexander III and the Case of Miguel de San Nicolás of Toledo (with two new letters from the Archivo Catedralicio de Toledo)
Authors: Lincoln Kyle C. 
Published: June 2021

Summary
This short note edits and studies (briefly) the contents of two previously unpublished letters from the Archivo Catedralicio de Toledo. The two letters describe the case of a young sub-deacon in the archdiocesan parish of San Nicolas, whose mother was born a Muslim but converted prior to the young cleric’s conception. The conflict over his status required a visit to Rome, and resulted in a clarification of a gray area in canon law.
Kreislaufwirtschaft in Produktionsnetzwerken
Authors: Klenk Felix , Potarca Matthias , Häfner Benjamin , Lanza Gisela 
Published: June 2021

Abstract
Die Kreislaufwirtschaft als Konzept zur nachhaltigen Produktion weist eine stetig steigende Relevanz auf. Gleichzeitig stellt deren Umsetzung für Unternehmen häufig eine große Herausforderung dar und erfordert branchen- und produktspezifische Lösungen. Ziel dieses Beitrags ist die Schaffung eines Rahmenmodells für Anforderungen und Charakteristika einer kreislauffähigen Produktion, sowie die Analyse von Konzepten, welche einen Wandel zu zirkulären Geschäftsprozessen ermöglichen.
Wasserstoffinfrastruktur für Flurförderzeuge
Authors: Wagner Miriam , Hermann Anna , Stiede Thomas , Fottner Johannes 
Published: June 2021

Abstract
Die geringe Marktdurchdringung von wasserstoffbetriebenen Flurförderzeugen in Intralogistikanwendungen in Europa sorgt für fehlende Erfahrungen zum Wasserstoffbezug und beim Aufbau der notwendigen Infrastruktur. Diese Unsicherheiten wiederum hemmen den Einsatz von Brennstoffzellen. Eine Betrachtung technisch möglicher Aufbauformen ist erforderlich, um mit dem entwickelten Vorgehen zur Dimensionierung der Komponenten der Betankungsanlage eine Orientierung in der Planung und Entscheidung für den Einsatz zu schaffen.
Überwachung des Mensch-Roboter-Kollaborationsraums mittels Millimeterwellen-Radar
Authors: Abdelawwad Mohamed , Borowski Torsten , Börcsök Josef , Drabesch Malte , Hägelen Manfred , Schwarz Michael H. , Voß Christian , Zech Christian 
Published: June 2021

Abstract
In diesem Beitrag wird ein neuartiges Sensorsystem für die Mensch-Roboter-Kollaboration vorgestellt, das auf Millimeterwellen-Radartechnologie basiert und entscheidende Vorteile gegenüber aktuell genutzten Sensortechnologien bietet. Es besteht aus einem Radarsensorring, der beliebig an Roboterachsen angebracht werden kann, einem Sensorknoten und einer Auswertungseinheit. Das System wurde im Zuge des BMBF-geförderten Forschungsprojekts RoKoRa entwickelt und in einem funktionalen Demonstrator realisiert.
The Effects of a Ketogenic Diet on Anthropometric Parameters, Metabolic Adaptation, and Physical Fitness Performance in Amateur Endurance Athletes: A Systematic Review
Authors: Moreno-Villanueva Adrián , Rico-González Markel , Pino-Ortega José 
Published: June 2021

ABSTRACT
Implementing ketogenic diets (KDs) in endurance athletes is currently an interesting topic. This article aimed to systematically review the effects of KDs on anthropometric, metabolic, and performance parameters in endurance sport athletes, highlighting the recommendations about how they should be used. This systematic review was performed under Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, and it was performed using 2 databases (i.e., PubMed and Web of Sciences). From the 1,485 studies initially identified, 14 were fully reviewed, and their outcome measures were extracted and analyzed. Regarding anthropometrics, KDs (i.e., daily caloric intake of carbohydrates [CH] < 5%) can lead to a reduction of body weight and percentage fat mass, with a possible impact on maintenance of fat-free mass. Regarding the metabolic adaptations, KDs lead to glycogen storage and fat mobilization, specifically, when using daily caloric intake of CH less than 8%. However, no positive or negative physical fitness and conditioning effects have been found when using KDs. In conclusion, although KDs could be a suitable strategy to induce anthropometric and metabolic changes, this type of diet could not be suitable to improve amateur endurance athletes’ performance.
Vincetoxicum indicum (Burm.f.) Mabb. - a case of transient abnormal secondary thickening in stem
Authors: DANIEL Mammen , MAMMEN Denni 
Published: June 2021

Vincetoxicum indicum (Burm.f.) Mabb. (Syn. Tylophora indica (Burm.f.) Merr., T. asthmatica W. &A.), an important twining medicinal plant of India, was found to show a transient anomalous secondary thickening to facilitate the twisting of stem around a support. The very young stem had a continuous primary xylem cylinder, the protoxylem of which differentiated to two large bundles on the opposing sides and many smaller bundles in between. In the initial stages of maturation, the cambium outside the two large protoxylem groups behaved abnormally in producing more phloem outwards and little or no secondary xylem inwards to produce two wedge shaped phloem groups on opposite sides. The production of crescent shaped secondary xylem on the other two sides which fell at a right-angled plane resulted in bulging of these sides away from the anomalous cambium to create a rectangular stem having two broad sides which were used as the facing sides of stem against a support. As soon as the twisting nature was established, the anomaly was reversed and the anomalous cambial patches started behaving normally to produce a complete ring of secondary xylem. As this abnormal behaviour happened only during the twisting of stem, this is considered as an adaptational anomalous secondary thickening.
Anti-proliferating activity of some toxic and medicinal plants used by Wancho tribe of Arunachal Pradesh, India
Authors: WANGPAN Tonlong , WANGPAN Athai , CHETRY Luk B. , TANGJANG Sumpam 
Published: June 2021

Medicinal plants extend to show an imperative role in the rural healthcare system of developing countries, where herbal medicine has a continuous history of long use. Field studies were conducted following standard ethnobotanical techniques to collect information on the use of toxic and medicinal plants used by the Wancho tribe of Arunachal Pradesh. Vigna radiata was used as a plant model in this study to investigate the antiproliferative property of selected medicinal plant extracts. Green gram seedling root apical meristem cells were used to determine the inhibition of germination and slow growth. Different concentrations of plant extract (20, 50, 250 and 500 µg/ml) were treated in a test tube containing the green gram seeds (n=5) on time dependent manner. Colchicine (20 mg/ml) was used as a standard drug for the growth retardation of green gram seedlings, while the distilled water group served as negative control. Germination test of Vigna radiata L. was performed according to ISTA (International Rules for Seed Testing) rules. The present study concludes that the methanolic plant extracts of all the collected plants significantly inhibited the rate of seed germination and seedling growth at dose dependent manner. It signifies that the use of Phlogacanthus parviflorus and Mikania micrantha in high concentrations may be potentially therapeutic for inhibiting the cell cycle in eukaryotic organisms.
A Tight Bound for Stochastic Submodular Cover
Authors: Hellerstein Lisa , Kletenik Devorah , Parthasarathy Srinivasan 
Published: June 2021

We show that the Adaptive Greedy algorithm of Golovin and Krause achieves an approximation bound of (ln(Q/η)+1) for Stochastic Submodular Cover: here Q is the “goal value” and η is the minimum gap between Q and any attainable utility value Q'<Q. Although this bound was claimed by Golovin and Krause in the original version of their paper, the proof was later shown to be incorrect by Nan & Saligrama. The subsequent corrected proof of Golovin and Krause gives a quadratic bound of (ln(Q/η)+1)2. A bound of 56(ln(Q/η)+1) is implied by work of Im et al. Other bounds for the problem depend on quantities other than Q and η. Our bound restores the original bound claimed by Golovin and Krause, generalizing the well-known (ln m+1) approximation bound on the greedy algorithm for the classical Set Cover problem, where m is the size of the ground set.
TSMK H. S. 25 Envanterli Mushaf-ı Şerîf’in Tezhip Sanatı Açısından İncelenmesi
Authors: ARACI Nihal 
Published: June 2021

Kur’ân-ı Kerîm’e duyulan sevgi ve saygı, O’nun hem kitâbeti hem de tezyinâtı için
titizlikle çalışılmasına ve böylece çok kıymetli eserler verilmesine vesîle olmuştur. Bu
çalışma, Topkapı Sarayı Müzesi Kütüphanesi H. S. 25 numaralı envanterde kayıtlı, gerek
hattı ve gerek tezhibi bakımından kaynak eser niteliğindeki Mushaf-ı Şerîf’in tezhibine
dâir yapılan incelemeyi içermektedir. Çalışmanın giriş kısmında, bir Mushaf’ın tezyîn
edilen bölümleri hakkında bilgi verilmiş, hemen sonrasında ise söz konusu Mushaf genel
özellikleri itibariyle tavsif edilmiştir. Ayrıca tasarımının normal seyri dışında gelişen
durumlara dikkat çekilmiştir. Mushaf’ın cilt kapaklarının her bölümü tasarım ve işleme
teknikleri bakımından anlatılmış, hattatı ve müzehhibi hakkında da bilgi verilmiştir. Mushaf’ın
genel tezhip özellikleri Safevî devri tezhibi bağlamında aktarıldıktan sonra, sırasıyla
zahriye ve serlevha tezhibi bütünden parçaya giden bir seyirde görseller üzerinden
incelenmiştir. Sûrebaşı tezhipleri kompozisyon çeşitlerine göre dört başlık altında tasnif
edilmiştir. Sonrasında ise Mushaf gülleri çeşitleri, ferağ kaydı tezhibi ve halkârlı sayfalar
tasarım, renk ve işleme tekniği veçheleriyle ele alınmıştır.
Orta Gelir Tuzağı Riski Yaşayan Üst Orta Gelirli Ülkelerde Kaldor Büyüme Modellerinin Ekonometrik Analizi
Authors: ASTAR Melek 
Published: June 2021

Bu çalışmanın amacı, üst orta gelirli ülkelerde Kaldor büyüme modellerinin geçerliliğinin
incelenmesidir. Çalışmada üst orta gelirli ülkelerin tercih edilmesinde bu ülkelerin
son yılların en önemli büyüme sorunları arasında yer alan orta gelir tuzağı riski ile karşı
karşıya olmalıdır. Çalışmada verisine ulaşılabilen 24 üst orta gelirli ülke için 1991-2019
dönemi ele alınarak, Kaldor’un önerdiği her üç model için panel veri modelleri tahmin
edilmiştir. Modellerin tahmininden önce serilerin durağanlığı kırılmalı birim kök testleri
ile incelenmiştir. Tahmin sonuçlarına göre orta gelir tuzağı riski ile karşı karşıya olan söz
konusu ülkeler için sadece Kaldor’un önerdiği ikinci modelin geçerli olduğu sonucuna
ulaşılmıştır.
Enderûna Giriş Yolları ve Enderun Teşkilatı
Authors: DİKER Sevgi Ağca 
Published: June 2021

İlk dönemlerde Rumeli’de sonraki yüzyıllarda Anadolu’da bir köyde hayata gelen
bir çocuk fiziki özellikleri ve yetenekleri ile seçilerek devşirme sistemi içine girmektedir.
Sistem içinde, kabiliyeti ve itaatkârlığı oranında yükselerek, hazırlık saraylarından/
mekteplerinden sonra Topkapı Sarayı’na gelmektedir. Enderûn’da, devşirilerek gelenler
dışında, müteferrikalar, hediye olarak gelen köleler, iltimaslılar, zâdeler ve çıraklar da
bulunmaktadır. Enderûn’da eğitim ve seçimlere tabi tutularak; Büyük Oda, Küçük Oda,
Seferli Koğuşu, Doğancı Koğuşu, Kilerli Koğuşu, Hazine Koğuşu’nda onlarca yıl eğitim
gördükten sonra Has Oda’ya terfi etmektedir. Enderûn teşkilatı içinde yer alan bu
koğuşların her birinde; kaç kişinin eğitim göreceği, hangi kurallarla koğuş içinde terfi
edileceği, hangi kıyafetleri giyecekleri, koğuş mevcutları yanında yaptıkları hizmetler de
farklılık göstermektedir. Büyük Oda ve Küçük Oda’ya mensup ağaların kıyafetleri diğer
koğuşlardan farklı olduğu gibi padişaha sundukları bir hizmette bulunmamaktadır. Bu
çalışmada koğuşlar içindeki hiyerarşik yapı sınıflandırılarak, her sınıfta bulunan görevlilerin
unvanları, vazifeleri, kıyafetleri, bahşişleri, terfileri, ilmî çalışmaları tespit edilmeye
çalışılacaktır. Enderûn teşkilatı çalışırken sıklıkla karşılaşılan; “acemilik”, “cülus bahşişi”,
“bayram inamı” gibi terimlerin koğuştan koğuşa gösterdiği farklılık irdelenecektir. Eğitimin son basamağı olan Has Oda; sınırlı kontenjanı, özel kuralları, sınıflandırması,
ağaların sıra dışı ayrıcalıkları ve padişahla kurdukları olağanüstü ilişkilerle tüm ağaların
ortak hayalidir.
Tek Sözcük Döneminde Dil - Zihin İlişkisi, İki Dillilik ve İletişimdeki İşlevselliği (12. ve 13. Aylar)
Authors: ÇELİK Muhammet 
Published: June 2021

İnsanda doğuştan var olan dil edinim süreci, anne karnında iken duyduğu seslerle
başlar, ardından çeşitli safhalardan geçerek ortalama 12. ayda görülen tek sözcük
dönemine ulaşır. Konuşmanın başlangıcı olan bu dönemde çocuğun, zihnindeki düşünceleri
ifade etmek üzere kolayına gelen kelimelerden seçerek kullandığı tek tek
kelimeler, çoğu kez sözedimsel bir güç taşır ve cümlelerin ifade ettiği anlamları barındırır.
Dil ediniminin ilk safhalarından itibaren çocuklar, hayatın doğal akışı içinde
birden fazla dili sorunsuzca edinebilirler. Çalışma, Türkiye’de sıklıkla görülen, Türkçe
ve Kürtçeyi aynı anda edinen çocuklardan birinin örnekliğini yorumlamakta ve çocuğun
kullandığı tek tek kelimelerden hareketle onun düşünce ve hayal dünyasına kapı
aralamayı hedeflemektedir.
Sosyal Fonksiyonları Bakımından Tekkelerin Osmanlı’daki Yeri
Authors: ÖZSARAY Mustafa 
Published: June 2021

Osmanlı Devleti halkın ilim ve irfan yönünden eğitiminde tekkelerin ve şeyhlerin
rolünü daha kuruluş aşamasında farketmiştir. Tasavvuf ehli de devletin kendilerinden
beklediği rolü ifa etmişlerdir. Bu anlamda Osman Gazi ile Şeyh Edebâli arasındaki birliktelik
daha sonraki padişahlar zamanında da devam etmiştir. Bu birliktelik, tekkeleri halk
ile devleti birbirine raptedecek temel kurumlardan biri haline getirmiştir. Bundan dolayı
devlet, mürîdlerin rûhî eğitimlerinin yapıldığı tekkelerin toplum yararına olan sosyal
fonksiyonlarını da yerine getirmeleri için şeyhlere her türlü imkânı vermiştir. Tekkeler
bu imkânları hem insanların ilim ve irfan eğitiminde hem de toplum yararına olan sosyal
faaliyetlerde kullanmışlardır. Tekkeler ile ilgili araştırmalarda onların sosyal fonksiyonlarına
ana hatlarıyla temas edilmiştir. Bununla birlikte, bu konuda belgelere yeterince
bakıldığı söylenemez. Oysa Osmanlı’da çok faal bir kurum olan tekkenin bu yönünün de
belgelere dayalı olarak ortaya konulması gerekir. Çünkü Osmanlı Arşivi’nde son yıllarda
tasnif edilen belgelerin sayısı artmıştır. Dolayısıyla tekkelerin bu yönünü ortaya çıkaran
yeni verilere ulaşılmaktadır. Bu makalede, tekkelerin bu yönde üstlendiği role kısaca değinildikten
sonra arşiv belgelerinden örnekler verilmek suretiyle Osmanlı Devleti’nin bu
köklü kuruma bakışı ve sosyal fonksiyonları bakımından tekkelerin Osmanlı Devleti’ndeki
yeri ortaya konulacaktır.
PATIENTS’ SATISFACTION AND SAFETY OF LASER HAIR REMOVAL
Authors: Tofiq Kazhan , Suliman Khalid 
Published: June 2021

Background
Laser treatment for controlling unwanted hair or laser-assisted hair removal is ever-increasing in popularity. This technology has been introduced to our practice for more than a decade, and it is fast advancing. Many factories that produce laser machines, and even beauty or aesthetic centers, claim commercially that laser hair removal in all skin types is free of side effects. This study aims to detect the degree of patients’ satisfaction with current practice in laser hair removal and the incidence of adverse effects after laser and light systems therapy for hair removal.
Objectives
To find out the degree of patients’ satisfaction with laser treatment of unwanted hair or hirsutism in addition to assessing the safety of laser-assisted hair removal, through detecting post-treatment side effects (e.g. redness, pain, scarring, post-laser hyper or hypopigmentation).
Materials and Methods
A cross-sectional study in a private dermatology and laser clinic in Sulaimania city/Iraq-Kurdistan Region.Three hundred (300) patients were involved in our study. They attended ongoing laser hair removal sessions. All patients were interviewed and treated by Dual head Alexandrite/Nd-yag Laser or Diod laser.
Results
Out of 300 patients, included in our study, two hundred eighty-eight were females and their ages ranged from 15 to 64 yrs. The number of sessions was from one to 37 sessions in this group. Duration of laser treatment, found to range from 1 to 50 months. Immediate side effects like redness, blistering, and pain were reported in 76 patients (25.3%), while long-term side effects like hyperpigmentation, acne flare, or scarring were seen in 28 patients (9.3%). Regarding the degree of patients’ satisfaction,167 patients (55.6%) were highly satisfied, 120 (40%) were less satisfied, while 13 (4.3%) were unsatisfied with the results of laser-assisted hair control. Our study found no correlation between both immediate and long-term side effects with the age of the patients. The sessions’ number was also well-tolerated and effective treatment modality not related significantly to the age, or the number of sessions.
Conclusion
Laser treatment of unwanted hair is a safe, well-tolerated, and effective treatment modality, which leads to high patient satisfaction.