bluuebunny/crossref_metadata_2025_split huggingface dataset:
Metrology for sensor networks: metrological traceability and measurement uncertainties for air quality monitoring
Authors: Eichstädt Sascha , Werhahn Olav 
Published: July 2024

Abstract

In situ calibration of sensors delivering SI traceable measurement results still provides an open question to the design and operation of sensor networks. Particularly when addressing low-cost sensors, currently, the use of sensor networks for air quality monitoring is limited by the low or unknown accuracy of measurements that they can achieve, while the data quality of individual sensor networks is mainly derived by algorithms. Standardization bodies like DIN and CEN therefore announced the need for investigations of validation methods on gas phase species and particulate matter on the one hand side, and for the development of fully digitized quality assurance/quality control and calibration techniques for sensor networks on the other (CEN/CENELEC, Opportunity for Standardisation to Contribute to the European Partnership on Metrology EPM under Horizon Europe). This contribution concentrates on the metrological traceability of sensor networks for air quality monitoring to the international system of units (SI) based on FAIRified intra-network communications (M. Wilkinson, et al., “The FAIR guiding principles for scientific data management and stewardship,” Sci. Data, vol. 3, 2016, Art. no. 160018) and including delocalized Optical Gas Standards operated according to the digital TILSAM method (O. Werhahn, et al., The TILSAM Method Adapted into Optical Gas Standards – Complementing Gaseous Reference Materials, PTB Open Access Repository, 2021). Informed by related activities in EURAMET (Partnership project FunSNM, EMNs COO & POLMO, TC-IM 1551) (European Metrology Network Climate and Ocean Observation (COO), European Metrology Network Pollution Monitoring (POLMO), EURAMET Project TC-IM 1551, Project Database) this contribution discusses the importance of measurement uncertainties in the context of sensor networks, comprising different sensor principles and promoting an efficient uptake of state-of-the-art methods. We discuss how the sensor network case can be addressed with sensors individually using the GUM principles (Joint Committee for Guides in Metrology, Guide to the Expression of Uncertainty in Measurement (GUM), JCGM 100: 2008 (E)). For sensor network measurements becoming metrologically traceable to the SI, documented and unbroken chains of calibrations need to be implemented each contributing to the measurement uncertainty. This applies to each individual sensor of the network including the potential gold standard among them, but also to the network’s output viewed as a single entity. The contribution provides first approaches to be tested and validated that are underpinned by fundamental design strategies for sensor networks. It follows on practical applications in real world scenarios aside from model uncertainties discussed in artificial intelligence prospects.
EL 40, HISTORIA DE UNA GENERACIÓN ANTIVANGUARDISTA
Authors: Del Gizzo Luciana 
Published: July 2024

Los poetas que se historiaron a sí mismos sería una buena definición para la llamada Generación del 40, un grupo tan numeroso como prolífico que pretendió relevar, o más bien prolongar, a los martinfierristas mediante una poesía solemne, elocuente, grave, formal. La revista del mismo nombre podría leerse como el órgano definitivo, o la última tentativa, de esa historización. Con seis números publicados entre 1951 y 1953, El 40. Revista Literaria de una Generación no solo reproduce poemas de tendencia neorromática o caracteriza su ideal de lo poético, sino que se ocupa de manera central de delinear los rasgos e historiar el difuso grupo que se había iniciado en la década anterior, bajo el pretexto del recambio generacional y la disputa por cierta noción de vanguardia. Este trabajo se propone analizar las tensiones entre los conceptos de generación y vanguardia que atraviesan la publicación, para comprender las figuraciones de lo poético y el estado de situación del ámbito de la poesía a mediados de siglo XX en Argentina.
EN AMÉRICA. REVISTA MENSUAL DE LOS INTELECTUALES EUROPEOS (BUENOS AIRES 1942-1944 ): EL EXORDIO COMO PRÁCTICA EDITORIAL
Authors: Viu Antonia 
Published: July 2024

En América se define como una revista mensual de selecciones de la prensa mundial, testimonios y comentarios. Muchas de estas selecciones se basan, como ya se ha estudiado en trabajos anteriores (VIU 2017; 2019), en la práctica editorial del recorte de otras revistas contemporáneas durante los años que rodean la Segunda Guerra Mundial. Este artículo estudia la relación entre un tipo de comentarios que aquí se analizan como exordios y que sistemáticamente acompañan los recortes de revistas y fragmentos de libros que publica En América. El artículo estudia estos comentarios a lo largo de los doce primeros números de la revista en tanto prácticas editoriales que permiten identificar formas de circulación de escritos, revistas y autores, alianzas y trayectorias, pero que sobre todo intentan contextualizar la lectura del recorte, exaltando emociones, fijando las condiciones del debate dentro del cual los distintos artículos deben comprenderse y las posiciones en juego dentro de cada discusión. Al analizar el exordio como práctica editorial, se postula que la composición de los distintos recortes en la revista va urdiendo una trama desde la cual la voz editorial sostiene, a partir de retazos, un mundo que se considera desquiciado en términos geopolíticos. Desde el imponente capital cultural que Europa en general y Francia en particular ostentan en esta revista, la épica de América como refugio desde el cual recomponer las devastadas fuerzas metropolitanas cobra sentido y se modela heroicamente en la revista.
DE LOS ESPACIOS DIGITALES DE LECTURA (Y ESCRITURA) EN LA ACADEMIA
Authors: De Llano Aymará 
Published: July 2024

En la actualidad se impone la reflexión acerca de la experiencia de la lectura y escritura digitales. Desde el pensamiento de Giorgio Agamben se destaca la relevancia de la materialidad en el acto de leer y de los límites diferentes a los que debemos adaptarnos según los soportes a los que accedamos. Proliferan espacios que difieren de los saberes tradicionales, mientras que las series de escritura digitales se presentan como discontinuas, ubicadas en unidades delimitadas y determinadas por la pantalla. Los aportes de Régine Robin sobre la memoria hipertextual resultan esclarecedores para nuestro trabajo. Dos casos de revistas académicas en formatos digitales alojadas en plataformas de la web: Revista del CELEHIS, revista digital académica publicada por la Universidad Nacional de Mar del Plata, Argentina, y Pacarina del Sur, revista digital publicada en México por un grupo de académicos son los ejemplos sobre los que trabajamos. Ambas muy diferentes: en el primer caso, por el grado de especificidad centrado en campos disciplinares específicos (literatura), mientras que, en el otro, aparecen las Ciencias Sociales en sentido amplio. Estos nuevos modos de escritura y de lectura implican cambios en las nociones, tales como sucesividad, fragmentación y una vivencia diferente de la temporalidad. Consideramos necesario reflexionar sobre este aspecto en nuestra práctica profesional.Palabras clave: Lectura digital revistas académicas en línea Pacarina del Sur Revista del CELEHIS
ANÁLISE DE REPORTAGENS SOBRE O “CASO ROBINHO” A PARTIR DOS CONSTRUTOS TEÓRICO-METODOLÓGICOS DE ESCALAS, ORDENS INDEXICAIS E ORDENS DE INDEXICALIDADE
Authors: Farias Vieira Maicon 
Published: July 2024

O presente trabalho fundamenta-se na busca de uma linguística cuja prática é voltada à vida social e repensa fenômenos sociolinguísticos. Objetiva-se analisar à luz da linguística da prática comunicativa (BLOMMAERT; RAMPTON, 2011), linguística aplicada crítica (RAJAGOPALAN, 2003, 2006) e linguística aplicada indisciplinar (MOITA LOPES, 2006a, 2006b) as performances narrativas presentes em reportagens sobre o chamado “Caso Robinho”. As performances narrativas foram construídas por Robinho, Falco e Gutierres, todos envolvidos direta ou indiretamente com o caso, e as reportagens foram publicadas nos sites Globo Esporte e UOL Esportes, em outubro de 2020. Para tanto, observam-se as performances, em especial, a partir dos construtos teórico-metodológicos de escalas, ordens indexicais e de ordens de indexicalidade, bem como os seus apontamentos na prática social. Como resultados são observados deslocamentos escalares negativos apontados por Falco, Gutierres e Robinho em relação à vítima do caso; ordens indexicais relativas a religiosidade e culpabilidade em relação a Robinho e, em relação à vítima, desqualificação e consentimento; e ordens de indexicalidade “ela sabe que todos transaram com ela”, “esposa” e “Deus vai dar vitória” que, respectivamente, apontam para a reconstrução do papel da vítima em culpada, a valorização da construção da mulher ocidental-cristã e julgamento pelas mãos divinas. Este trabalho enaltece, através dos construtos teórico-metodológicos escolhidos, as necessidades de análises linguísticas que se voltem a compreender a linguagem como prática social crítica e indisciplinar e suas suturas com as ciências sociais.
PROGRESS AND PROSPECTS IN THE FIELD OF QUANTUM COMPUTING
Authors: БЕТЕРОВ И.И. 
Published: July 2024

В статье представлен краткий обзор современных достижений в квантовой информатике, проблем и перспектив развития квантовых вычислений. Обсуждаются элементарная математическая модель квантовых вычислений и понятие квантового превосходства. Рассматривается применение ультрахолодных атомов для реализации квантовых процессоров.
The article provides a brief overview of modern achievements in quantum information science, problems and prospects for the development of quantum computing. The elementary mathematical model of quantum computing and the concept of quantum supremacy are discussed. The use of ultracold atoms for the implementation of quantum processors is considered.
VISIBLE PHOTOLUMINESCENCE OF IN+- AND AS+-ION IMPLANTED SIO2 FILMS
Authors: ТЫСЧЕНКО И.Е. , СЫ Ч. , ЧЕРКОВА С.Г. , ПОПОВ В.П. 
Published: July 2024

Исследована фотолюминесценция в видимом спектральном диапазоне при комнатной температуре плёнок SiO2, имплантированных ионами In+ и As+ в зависимости от энергии ионов As+, температуры последующего отжига и длины волны возбуждающего излучения. Использовались ионы As+ с энергиями 40, 80 или 135 кэВ и ионы In+ с энергией 50 кэВ, при которых соотношение средних проективных пробегов ионов RpAs/RpIn составляло 1, 2 или 3 соответственно. Последующий отжиг проводился при температуре 900 и 1100 °C. Спектры фотолюминесценции возбуждались излучением лазера с длинами волн λ ex = 442 и 473 нм. В спектрах фотолюминесценции при возбуждении с λ ex = 473 нм наблюдался пик 550 нм, энергетическое положение которого смещалось к 520-530 нм при λ ex = 442 нм. Увеличение соотношения RpAs/RpIn сопровождалось уменьшением интенсивности фотолюминесценции, а также изменением соотношения интенсивности пиков в зависимости от температуры отжига. Наблюдаемый эффект обсуждается с точки зрения рекомбинации электронов и дырок в нанокристаллах InAs.
The room-temperature visible photoluminescence of the In+ and As+ ion-implanted SiO2 films is investigated as a function of As+ ion energy, annealing temperature, and excitation wavelength. As+ ions at the energy of 40, 80, or 135 keV and In+ ions at the energy of 50 keV, providing an average range ratio RpAs/RpIn of 1, 2 or 3, respectively, are used. The subsequent annealing is carried out at a temperature of 900 and 1100 °C. The photoluminescence spectra are excited with a laser wavelength lex = 442 and 473 nm. The photoluminescence peak near 550 nm is obtained at an excitation wavelength of 473 nm. The wavelength position of this peak is shifted to 520-530 nm at lex = 442 нм. As the RpAs/RpIn ratio increases, the photoluminescence intensity drops down, and the photoluminescence intensity ratio as a function of the annealing temperature is changed. The resultant effect is discussed in the frame of the electron and hole recombination within InAs nanocrystals.
DETECTION OF DEER IN IMAGES BY COMPUTER VISION METHODS
Authors: ТЕРЕЩЕНКО С.Н. , ОСИПОВ А.Л. 
Published: July 2024

Исследован подход применения методов машинного обучения для автоматического обнаружения особей оленей на изображениях. Для точного подсчёта количества особей оленей по фотографиям использовалась технология нейронных сетей. Применялись методы глубокого обучения свёрточных нейронных сетей (ResNet 50, DenseNet, CenterNet, Inception V3, Xception) во взаимодействии с методикой transfer learning. На основе Faster R-CNN ResNet 50 произведено обучение нейронной сети, которая позволила с точностью 0,91 на выборке по метрике F1-score с пороговым значением 0,6 определять особей оленей по графическим изображениям.
The approach of applying machine learning methods for automatic detection of deer individuals in images is studied. The neural network technology is used to accurately count the number of deer from photographs. Deep learning methods for convolutional neural networks (Resnet50, DenseNet, CenterNet, InceptionV3, Xception) are used in conjunction with the “transfer learning” technique. Based on the Faster R-CNN Resnet50 network, a neural network is trained, which makes it possible to determine deer individuals from graphic images with an accuracy of 0.91 on a sample using the F1-score metric with a threshold value of 0.6.
Vitamin B12 Deficiency Newborn Screening
Authors: Mütze Ulrike , Gleich Florian , Haas Dorothea , Urschitz Michael S. , Röschinger Wulf , Janzen Nils , Hoffmann Georg F. , Garbade Sven F. , Syrbe Steffen , Kölker Stefan 
Published: July 2024

BACKGROUND
Vitamin B12 deficiency (VitB12D) might cause neuro-developmental impairment in the first year of life. Newborn screening (NBS) for VitB12D was shown to be technically feasible and early treated infants developed favorably. This study aims to evaluate the impact of NBS in prevention of symptomatic infantile VitB12D.

METHODS
In a nationwide surveillance study in cooperation with the German Pediatric Surveillance Unit, incident cases with VitB12D (&lt;12 months of age) were prospectively collected from 2021 to 2022.

RESULTS
In total, 61 cases of VitB12D reported to German Pediatric Surveillance Unit were analyzed, either identified by NBS (N = 31) or diagnosed after the onset of suggestive symptoms (non-NBS; N = 30). Ninety percent of the infants identified by NBS were still asymptomatic, whereas the non-NBS cohort presented at median 4 month of age with muscular hypotonia (68%), anemia (58%), developmental delay (44%), microcephalia (30%), and seizures (12%). Noteworthy, symptomatically diagnosed VitB12D in the first year of life was reported 4 times more frequently in infants who did not receive NBS for neonatal VitB12D (14 in 584 800) compared with those screened for VitB12D as newborns (4 in 688 200; Fisher's Exact Test, odds ratio 4.12 [95% confidence interval: 1.29–17.18], P = .008). The estimated overall cumulative incidence was 1:9600 newborns per year for neonatal VitB12D and 1:17 500 for symptomatic infantile VitB12D.

CONCLUSIONS
NBS for neonatal VitB12D may lead to a fourfold risk reduction of developing symptomatic VitB12D in the first year of life compared with infants without NBS.
Jogo da memória Célula Connect: uma integração lúdica no ensino de Biologia Celular
Authors: Chauvin Dejane , Nogueira de Oliveira Jefferson , Vieira Rodrigues Paulla , Da Silva Machado Fabrícia , Carvalho Diego Soares 
Published: July 2024

A Biologia celular é fundamental para a compreensão da organização e diversidade da vida no planeta. Apesar de sua importância, é uma das áreas da Biologia em que os alunos demonstram maior grau de dificuldade, devido à sua complexidade e difícil assimilação. Diante do exposto, o objetivo deste trabalho foi desenvolver e aplicar o jogo digital “Célula Connect_Jogo de Memória” com o intuito de auxiliar a aprendizagem dos estudantes do ensino médio em relação aos conteúdos de Biologia celular (célula procarionte e eucarionte, organelas celulares e suas funções). Após a aplicação do jogo, constatamos que o Célula Connect foi bem aceito pelos estudantes e apresentou potencial de estimular a aprendizagem dos estudantes de forma lúdica e interativa. Além disso, acreditamos que a proposta despertou reflexões e inquietações sobre o uso da tecnologia em sala de aula, servindo de embasamento para novas investigações no ensino da Biologia celular.
རྒྱ་བོད་གཉིས་ནང་བར་དོའི་དགོངས་དོན་གྱི་འབྱུང་ཁུངས་དང་འཕེལ་རིམ།
Authors: རིག་གཞུང་མཐོ་རིམ་སློབ་གྲྭ། ཚེ་རིང་དོན་གྲུབ། 
Published: July 2024

བཅུད་དོན།
བར་དོའི་རྣམ་གཞག་འདི་ ནང་ཆོས་དང་འབྲེལ་བའི་གནད་དོན་ཅིག་ཨིན་པའི་ཁར་ ལྷག་པར་དུ་ཧི་མ་ལ་ཡའི་གངས་ལྗོངས་ཀྱི་རྒྱལ་ཁམས་ཚུ་ནང་དར་ཡོད་པའི་ གསང་སྔགས་རྡོ་རྗེ་ཐེག་པའི་ཆོས་སྐོར་དང་འབྲེལ་བའི་ གནད་དོན་གལ་ཅན་ཨིནམ་མ་ཚད་ ད་རེས་ནངས་པ་ཡོངས་གྲགས་ཅན་གྱི་ ཆོས་སྐོར་དང་ཐ་སྙད་ཅིག་ལུ་གྱུར་ཏེ་འདུག། ལོ་རྒྱུས་དང་འཁྲིལ་བ་ཅིན་ བར་དོའི་གནད་དོན་འདི་ལུ་ གནས་དུས་ཀྱི་གནས་སྟངས་དང་འཁྲིལ་ འཕོ་འགྱུར་གྱི་རིམ་པ་ལེ་ཤ་བྱུང་ཡོདཔ་ལས་ ཁུངས་བཙན་ཞིབ་འཚོལ་འདི་ནང་ རྒྱ་གར་གྱི་གནའ་དུས་སུ་བྱུང་བའི་ རིག་བྱེད་དང་རིག་བྱེད་མཐའི་ (ཨུ་པ་ནི་ཥད་) གཞུང་དང་ བཀའ་བསྟན་ལ་སོགས་པ་ནང་པའི་རིག་གཞུང་དང་འབྲེལ་བའི་ ཁུངས་ཐུབ་ཀྱི་ཡིག་ཚུ་གི་ནང་དོན་དབྱེ་ཞིབ་ཐོག་ལས་ བར་དོའི་དགོངས་དོན་གྱི་འབྱུང་ཁུངས་དང་འཕེལ་རིམ་ཚུ་ དཔྱད་ཞིབ་འབད་དེ་ཡོད། སྤྱིར་བཏང་ རྒྱ་གར་གྱི་གནའ་དུས་ཀྱི་རིག་གཞུང་ནང་ བར་དོའི་རྣམ་གཞག་འདི་ ཁ་གསལ་སྦེ་གསལ་སྟོན་འབད་ཡོད་པའི་ བདེན་ཁུངས་ཚད་ལྡན་ཅིག་མེད་རུང་ ནང་པའི་རིག་གཞུང་གི་བཀའ་བསྟན་དང་ཡིག་ཆ་མང་རབས་ཅིག་གི་ནང་ བར་དོའི་རྣམ་གཞག་འདི་ རྒྱ་ཆེ་དྲགས་སྦེ་གསལ་སྟོན་འབད་དེ་ཡོད་པའི་ཁར་ ལྷག་པར་དུ་ གསང་སྔགས་རྡོ་རྗེ་ཐེག་པའི་ལམ་སྲོལ་ནང་ དུས་རབས་ལས་བཅད་དེ་ གནས་དུས་ཀྱི་གནས་སྟངས་དང་འཁྲིལ་ བར་དོའི་གོ་དོན་དང་རྣམ་གྲངས་ཚུ་རྒྱ་བསྐྱེད་འགྱོ་ཡོདཔ་མ་ཚད་ ཉམས་ལེན་གྱི་རྣམ་གཞག་ཚུ་གོང་འཕེལ་སོང་སྟེ་ ཧི་མ་ལ་ཡའི་གངས་ལྗོངས་ཀྱི་མི་སྡེ་ཚུ་གི་ ཆོས་དང་ལམ་སྲོལ་ནང་རྒྱ་ཆེ་དྲགས་སྦེ་འབྲེལ་བ་ཡོད་པའི་ གནད་དོན་ཅིག་ལུ་གྱུར་ཏེ་ཡོདཔ་ཤེས་ཚུགས་བས།
གཙོ་ཚིག། བར་དོ། འབྱུང་ཁུངས། འཕེལ་རིམ། རིག་བྱེད། ནང་པ། གསང་སྔགས།
Getting prepared for the fresh COVID19 wave:
Authors: Garg Anurag , Singhal Ravi , Varshney Shyamli 
Published: July 2024

Regular supply of pure oxygen is the need of the hour to be prepared for the fresh waves of COVID-19. The cost of such oxygen supplies should be economical to reach out to the masses & avoid unwelcome burden on the national economy. A requirement has always been felt to identify an alternate source of oxygen generation with readily available raw materials which can ensure its cost effectiveness and last mile oxygen availability through independent generation capabilities.Chemical generation of oxygen has been the go-to technology for portable oxygen generation. However, the cost of production and controlling the reaction has generally been uneconomical for commercial applications. The authors undertook a task to build up a prototype of chemical oxygen generator which did not require compressed gas. It on the principle of dissociation of Sodium per carbonate (SPC) into sodium carbonate and hydrogen peroxide. Hydrogen peroxide so produced interacts with catalyst MnO which further decomposes to produce oxygen. A cast iron tank with a reaction chamber at the bottom is fabricated where upper tank consists of water and space for storing gases. The flow of the water is regulated to control the speed of the reaction.The chemical mixture of sodium percarbonate and manganese dioxide is tightly packed in a cloth bag.Oxygen release valve is kept at the top of the tank which is connected via a pipe to the standard to check the quantity of oxygen as well as the oxygen mask for the patient.This equipment, has a to be the in the fight against COVID especially in remote and difficult to access areas as well as areas without electricity.
In Vitro Effect of Luting Cement on Fracture Resistance of Primary Maxillary Central Incisors with Fiber Posts
Authors: Bahrololoomi Zahra , Kazemi Alireza Danesh , Zarebidoki Fatemeh , Mohammadi Mahsa 
Published: July 2024

Objectives: The use of fiber posts in endodontically treated primary maxillary central incisors improves the retention of composite resin restorations. The purpose of this study was to evaluate the effect of 4 different luting cements on fracture resistance of primary maxillary central incisors with fiber posts.
Materials and Methods: In this in vitro study, 40 primary maxillary central incisors were endodontically treated and obturated with Metapex. They were then randomly divided into four groups (n=10) for cementation of fiber posts with GC Fuji I glass ionomer luting cement, Panavia F2.0 dual-cure luting cement, Panavia SA Luting Plus cement (self-adhesive), and TotalCem self-adhesive cement. After 1000 thermal cycles, the fracture resistance was measured. Data were statistically analyzed using ANOVA (alpha=0.05).
Results: The mean fracture resistance was 267.07±130.01N in TotalCem, 257.27±102.56N in Panavia F2.0 dual-cure cement, 227.82±110.40N in Panavia SA Luting Plus self-adhesive cement, and 220.89±59.96N in GC Fuji I glass ionomer group. There was no statistically significant difference in fracture resistance among the four groups (P=0.714).
Conclusion: Type of luting cement had no significant effect on fracture resistance of primary maxillary central incisors with fiber posts. Nonetheless, TotalCem yielded the highest fracture resistance. Considering its self-adhesive property and easy workability, it can be a good option for cementation of fiber posts in endodontically treated primary central incisors.
Epidemiological, Demographic, and Clinical Characteristics of Von Willebrand Disease Patients in Zahedan City, Iran: A Descriptive Study
Authors: Naderi Majid , Rhmati Benyamin , Ganjali Hoora , Yaghoubi Saeedeh , Harifi-Mood Mohammad Sadra , Azizi Seyed Ghader 
Published: July 2024

Background: Von Willebrand disease (VWD) is one of the most common coagulative diseases, so identifying the effective factors in preventing this complication is essential. The study aimed to evaluate the frequency of demographic and epidemiological findings in VWD patients referred to a hospital in Zahedan, Iran.
Materials and Methods: This study was performed on 76 patients with VWD referred to Hazrat Ali-Asghar Hospital in Zahedan City, Sistan, and Baluchestan province. After obtaining consent from the patients, the demographic information and clinical symptoms of the disease were recorded. All statistical analyses were performed using SPSS 22.0 software. All descriptive data were expressed as mean ±SD and percent (%) depending on the continuous and dichotomous variables. A P-value ≤0.05 was considered significant statistically.
Results: The present study results showed that the highest age group of VWD patients at the time of disease diagnosis was in the age group 1-5 years (47.3%), and most patients had type III VWD (80.3%). It was also found that 67.1% of patients had a positive family history and their parents' consanguineous marriage (77.6%). The most common complaints were epistaxis (88.15%), cutaneous bleeding (78.94%), and oral cavity bleeding (61.84%), respectively.
Conclusion: Due to the high prevalence of VWD in consanguineous marriages and an increase in adverse complications and symptoms in VWD patients, proper diagnosis and screening at an early age, especially in people with family history, is essential. Efforts are needed to develop national registries and widely provide the required and available basic services for diagnosis and treatment.