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Johannes L. Roos
Pág. 9 bladsye
Die genetiese komponent in die etiologie van skisofrenie word reeds ?n geruime tyd al aanvaar. Die onderliggende argitektuur van die genetiese risiko bly ?n punt van bespreking. Vroe? studies oor koppeling en kandidaatverbintenis het grootliks gel...
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Despoina Nteli, Maria Nteli, Konstantinos Konstantinidis, Anastasia Foka, Foteini Charisi, Iliana Michailidou, Sotiria Stavropoulou De Lorenzo, Marina Boziki, Maria Tzitiridou-Chatzopoulou, Evangelia Spandou, Constantina Simeonidou, Christos Bakirtzis and Evangelia Kesidou
Argininemia or arginase-1 deficiency constitutes a rare, genetic, metabolic disorder caused by mutations in arginase 1?the last enzyme of the urea cycle?that hydrolyses L-arginine to ornithine and urea. The disease is associated with progressive developm...
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Ashwin Roy, Mohamed Mansour, David Oxborough, Tarekegn Geberhiwot and Richard Steeds
Fabry disease (FD) is a rare X-linked lysosomal storage disorder manifesting as progressive multi-organ accumulation of sphingolipids due to deficiency in the enzyme a-Galactosidase A. Sphingolipid accumulation can take place in all cardiac cell types wh...
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Jesús B. Alonso-Hernández, María Luisa Barragán-Pulido, José Manuel Gil-Bordón, Miguel Ángel Ferrer-Ballester and Carlos M. Travieso-González
Currently, there are more and more frequent studies focused on the evaluation of Alzheimer?s disease (AD) from the automatic analysis of the speech of patients, in order to detect the presence of the disease in an individual or for the evolutionary contr...
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Laura Penta, Giulia Muzi, Marta Cofini, Alberto Leonardi, Lucia Lanciotti and Susanna Esposito
Background: Ophthalmopathy is a rare extra-thyroid manifestation of Graves? disease, in paediatrics. Intravenous corticosteroids are the main treatment of moderate-to-severe Graves? orbitopathy. In this paper, we describe a moderate-to-severe active Grav...
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Shengwei Wu, Zhengzheng Xuan, Fei Li, Wei Xiao, Xiuqiong Fu, Pingping Jiang, Jieyu Chen, Lei Xiang, Yanyan Liu, Xiaoli Nie, Ren Luo, Xiaomin Sun, Hiuyee Kwan and Xiaoshan Zhao
Suboptimal health status (SHS)?an intermediate state between health and illness?refers to functional somatic symptoms that are medically undiagnosed. Although SHS has become a great challenge for global public health, very little about its etiology and m...
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Luciana Rigoli, Valerio Caruso, Concetta Aloi, Alessandro Salina, Mohamad Maghnie, Giuseppe d'Annunzio, Olga Lamacchia, Giuseppina Salzano, Fortunato Lombardo and Giuseppe Picca
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such...
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Corina Adriana Dobocan, Emanuela Pop, Monica Bogdan and Catalin Grec
In metabolic diseases such as phenylketonuria (a rare disease), a very important way to keep the patient healthy is the administration of amino acid substitutes. This dispenser was designed because in other places (except home) for patients, it is very d...
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Nicola Capuano, Pasquale Foggia, Luca Greco and Pierluigi Ritrovato
In the biomedical field, there is an ever-increasing number of large, fragmented, and isolated data sources stored in databases and ontologies that use heterogeneous formats and poorly integrated schemes. Researchers and healthcare professionals find it ...
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Purwanto Purwanto, Sugeng Utaya, Budi Handoyo, Syamsul Bachri, Ike Sari Astuti, Kresno Sastro Bangun Utomo and Yulius Eka Aldianto
In this research, we analyzed COVID-19 distribution patterns based on hotspots and space?time cubes (STC) in East Java, Indonesia. The data were collected based on the East Java COVID-19 Radar report results from a four-month period, namely March, April,...
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Mujahed I Mustafa, Abdelrahman H Abdelmoneim, Nafisa M Elfadol, Soada A Osman, Tebyan A Abdelhameed, Mohamed A Hassan
Pág. 96 - 113
Hereditary pancreatitis (HP) is a rare heterogeneous disease with partial penetrance identified by frequent episodes of severe abdominal pain, often showing in young aged children. It is complicating by chronic pancreatitis, and high rate of pancreatic c...
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Nicoletta Nuzziello, Arianna Consiglio, Rosa Gemma Viterbo, Flavio Licciulli, Sabino Liuni, Maria Trojano and Maria Liguori
MicroRNAs (miRNAs), a class of non-coding RNAs, seem to play a key role in complex diseases like multiple sclerosis (MS), as well as in many cognitive functions associated with the disease. In a previous cross-sectional evaluation on pediatric MS (PedMS)...
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Jonathan W. Long, Andrew Gray and Frank K. Lake
Forest densification, wildfires, and disease can reduce the growth and survival of hardwood trees that are important for biological and cultural diversity within the Pacific Northwest of USA. Large, full-crowned hardwoods that produce fruit and that form...
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K. N. de Kock, C. T. Wolmarans
Pág. 1 - 16
Account is given of the distribution and habitats of the three Lymnaea species currently on recordin the National Freshwater Snail Collection (NFSC) of South Africa. A total number of 616, 353and 202 loci (1/16th square degrees) was respectively r...
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K. N. de Kock, C. T. Wolmarans
Pág. 1 - 16
Account is given of the distribution and habitats of the three Lymnaea species currently on recordin the National Freshwater Snail Collection (NFSC) of South Africa. A total number of 616, 353and 202 loci (1/16th square degrees) was respectively r...
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Jeffery T. H. Kong, Filbert H. Juwono, Ik Ying Ngu, I. Gde Dharma Nugraha, Yan Maraden and W. K. Wong
Social media has evolved into a platform for the dissemination of information, including fake news. There is a lot of false information about the current situation of the Coronavirus Disease 2019 (COVID-19) pandemic, such as false information regarding v...
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