نتایج جستجو برای: deficiency diseases

تعداد نتایج: 961769  

2013
S Federici J Frenkel S Ozen A Jordi JI Arostegui F De Benedetti P Dolezalova H Girschick V Hentgen M Hofer H Lachmann I Koné-Paut J Kuemmerle-Deschner B Neven H Ozdogan C Rose A Simon S Stojanov N Toplak I Touitou R Vesely P Woo C Wouters N Ruperto A Martini M Gattorno

Methods A web-based registry collecting baseline and crosssectional clinical information on Autoinflammatory diseases is available in the member area of the PRINTO web-site (www.printo.it). The registry is open to all pediatric and adult Centers with a specific interest in Autoinflammatory diseases. The following monogenic autoinflammatory diseases were considered: Familial Mediterranean Fever ...

2014
Hye-Rim Song Sun-Seog Kweon Jin-Su Choi Jung-Ae Rhee Young-Hoon Lee Hae-Sung Nam Seul-Ki Jeong Kyeong-Soo Park So-Yeon Ryu Seong-Woo Choi Min-Ho Shin

Vitamin D plays an important role in bone metabolism and maintaining bone health. Recently, new evidence has revealed that vitamin D affects chronic diseases such as autoimmune diseases, cardiovascular diseases and certain cancers. The aim of this study was to evaluate the vitamin D status and the prevalence of vitamin D deficiency in an urban Korean population. This study included 8,976 partic...

 Background and purpose: Despite wide fight against malaria in endemic regions, it is still one of the most serious infectious diseases in some parts of the world. Primakin is effective in treatment and prevention of malaria. However, individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency are at risk for hemolysis and its complications when taking primakin. This study was performe...

اسدالهی, خیراله, دلیری, سلمان, رحیمی, نازیلا, سایه‌میری, کورش,

Background: The deficiency of enzyme glucose-6-phosphate dehydrogenase (G6PD) is among the most common genetic diseases in human. The deficiency of G6PD enzyme is one of the most common encountered enzymes, affecting about 400 million people and causing a wide range of undesirable clinical complications worldwide. The performed studies have reported a variety of statements about the relationshi...

Journal: :Cell reports 2016
Jonathan B Lin Shunsuke Kubota Norimitsu Ban Mitsukuni Yoshida Andrea Santeford Abdoulaye Sene Rei Nakamura Nicole Zapata Miyuki Kubota Kazuo Tsubota Jun Yoshino Shin-Ichiro Imai Rajendra S Apte

Photoreceptor death is the endpoint of many blinding diseases. Identifying unifying pathogenic mechanisms in these diseases may offer global approaches for facilitating photoreceptor survival. We found that rod or cone photoreceptor-specific deletion of nicotinamide phosphoribosyltransferase (Nampt), the rate-limiting enzyme in the major NAD(+) biosynthetic pathway beginning with nicotinamide, ...

Journal: :GE Portuguese Journal of Gastroenterology 2023

Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and caused by mutations in SERPINA1 gene. The homozygous Pi*Z variant responsible for majority classic severe form alpha-1 deficiency, which characterized markedly decreased levels serum (AAT) with a strong predisposition to lung liver disease. diagnosis early treatment AATD-associated disease are challenges clinic...

2017

Champlin and colleagues have elegantly summarized the concept of nonmyeloablative stem cell transplantation (NST), stressing the importance of this newly emerging procedure for the treatment of patients with life-threatening malignant hematologic and nonhematologic diseases. This review does not include a description of the safety and efficacy of NST for the treatment of many life-threatening n...

Journal: :Applied optics 2016
Caio Bruno Wetterich Ruan Felipe de Oliveira Neves José Belasque Luis Gustavo Marcassa

Citrus canker and Huanglongbing (HLB) are citrus diseases that represent a serious threat to the citrus production worldwide and may cause large economic losses. In this work, we combined fluorescence imaging spectroscopy (FIS) and a machine learning technique to discriminate between these diseases and other ordinary citrus conditions that may be present at citrus orchards, such as citrus scab ...

2011
Min Yong Park Jung A Kim Seong Yoon Yi Sun Hee Chang Tae Hyun Um Hye Ran Lee

Splenic infarction is most commonly caused by cardiovascular thromboembolism; however, splenic infarction can also occur in hematologic diseases, including sickle cell disease, hereditary spherocytosis, chronic myeloproliferative disease, leukemia, and lymphoma. Although 10% of splenic infarction is caused by hematologic diseases, it seldom accompanies autoimmune hemolytic anemia (AIHA). We rep...

2015
Christoph Freyer Henrik Stranneheim Karin Naess Arnaud Mourier Andrea Felser Camilla Maffezzini Nicole Lesko Helene Bruhn Martin Engvall Rolf Wibom Michela Barbaro Yvonne Hinze Måns Magnusson Robin Andeer Rolf H Zetterström Ulrika von Döbeln Anna Wredenberg Anna Wedell

BACKGROUND Coenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing. METHODS We used whole exome sequencing (WES) to investigate patients with inherited metabolic diseases and applied a no...

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