Results 71 to 80 of about 889,891 (289)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Interstitial Fibrosis Severity Is Not Independently Associated with Anemia in Biopsy-Proven Primary Glomerulonephritis: A Nationwide Registry Analysis

Medicina
Background and Objectives: Anemia is a frequent complication of chronic kidney disease (CKD), primarily attributed to erythropoietin deficiency. Interstitial fibrosis (IF), which disrupts the renal interstitium where erythropoietin-producing cells reside,
Egemen Cebeci, Kenan Turgutalp, Savaş Öztürk, Yasemin Özlük, Sibel Gökçay Bek, Abdullah Şumnu, Nurhan Seyahi, Mahmut Yavuz, Serhan Pişkinpaşa, Ömer Faruk Akçay, Tamer Sakacı, Garip Şahin, Bülent Tokgöz, Gülizar Şahin, İlter Bozacı, Belda Dursun, Savaş Sipahi, Arzu Özdemir, Gültekin Süleymanlar, Sena Ulu, Fatma Betül Güzel, Sim Kutlay, Ergün Parmaksız, İlhan Kurultak, Nedim Yılmaz Selçuk, Yaşar Yıldırım, Meltem Gürsu, Caner Çavdar, Meryem Timuçin, Zeki Aydın, Deren Oygar, Serdar Kahvecioğlu, Müge Üzerk Kibar, Dilek Torun, Dilek Taymez, Mehmet Küçük, Serap Demir, Leyla Koç, Siren Sezer, Murat Duranay, Simge Bardak, Lütfullah Altıntepe, Mehmet Koç, Alper Azak, Ali Rıza Odabaş, Zülfikar Yılmaz, Saime Paydaş   +46 more
doaj   +1 more source

Iron Status and Analysis of Efficacy and Safety of Ferric Carboxymaltose Treatment in Patients with Inflammatory Bowel Disease [PDF]

, 2011
Background and Aims:We analyzed iron deficiency and the therapeutic response following intravenous ferric carboxymaltose in a large single-center inflammatory bowel disease (IBD) cohort.
Brand, Stephan, Burkhard Göke, Breiteneicher, Simone, Göke, Burkhard, Ochsenkühn, Thomas, Fabian Schnitzler, Stephan Brand, Maria Weidinger, Thomas Ochsenkühn, Simone Breiteneicher, Beigel, Florian, Weidinger, Maria, Schnitzler, Fabian, Löhr, Beate, Seiderer, Julia, Laubender, Rüdiger P., Beate Löhr, Tillack, Cornelia, Cornelia Tillack, Florian Beigel, Julia Seiderer, Rüdiger P. Laubender   +21 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Assessment of maternal anemia in rural Western China between 2001 and 2005: a two-level logistic regression approach. [PDF]

, 2013
BACKGROUND: There are multiple adverse effects of anemia on human function, particularly on women. However, few researches are conducted on women anemia in rural Western China.
Ren, Lin, Wang, Duolao, Pei, Leilei, Lin Ren, Duolao Wang, Yan, Hong, Leilei Pei, Hong Yan   +7 more
core   +2 more sources

Murine models of renal disease: Possibilities and problems in studies using mutant mice [PDF]

, 2000
The elucidation of the pathogenesis of human renal disease at the molecular level has been facilitated by the growing field of gene targeting and the development of mouse strains with single-gene deletions - the `knock-out' mice. Experimental nephrology,
Anders, Hans-Joachim, Schlöndorff, Detlef   +1 more
core   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

Prevalence of Anemia in Renal Transplant Patients in Turkey

Turkish Journal of Nephrology, 2019
OBJECTIVE: Post-transplant anemia is a common complication in renal allograft recipients. The most common causes are impaired graft function, immunosuppressive drugs, and infections.
Alparslan MERDİN, Seray KARAGÖZ, Fatma AVCI, Hüseyin KOÇAK, Ayhan DİNÇKAN, Gültekin SÜLEYMANLAR   +5 more
doaj  

The impact of diabetes, anemia, and renal function in the relationship between osteoporosis and fasting blood glucose among Taiwanese women: a cross-sectional study

BMC Women's Health
Background The aim of this study was to investigate the association between fasting blood glucose and osteoporosis in women with diabetes, anemia, and renal function.
Tzyy-Ling Chuang, Malcolm Koo, Yuh-Feng Wang   +2 more
doaj   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source