Results 81 to 90 of about 8,746 (276)

Posterior polymorphous corneal dystrophy in X linked Alport syndrome

Revista Brasileira de Oftalmologia
We describe a six-year-old boy with a history of hematuria, posterior polymorphous corneal dystrophy and dots and fleck retinopathy. Alport syndrome should be ruled out in patients presenting with posterior polymorphous corneal dystrophy or anterior ...
Flavia Ribeiro Monteiro de Godoy, Elham Al Qahtani, Christopher J. Lyons   +2 more
doaj   +1 more source

Unveiling Endotypes in Systemic Lupus Erythematosus Through Multiomic Analysis: Insights Into Cardiovascular and Renal Complications

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó, Laurel Woodridge, Sagrario Corrales, Juan Rafael Muñoz‐Castañeda, Ana Isabel Torralbo, Anisur Rahman, Filipa Farinha, Rafaela Ortega Castro, Pedro Segui, Ismael Sanchez‐Pareja, Laura Muñoz‐Barrera, Christian Merlo, Desiree Ruiz‐Vilchez, M. Carmen Ábalos‐Aguilera, Pilar Font, Nuria Barbarroja Puerto, PRECISESADS Clinical Consortium, Lorenzo Beretta, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Isabel Almeida, Miguel Angel Gonzalez‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Ma Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Marta Alarcón‐Riquelme, Alejandro Escudero‐Contreras, M. Ángeles Aguirre‐Zamorano, Carlos Perez‐Sanchez, Elizabeth C. Jury, Chary Lopez‐Pedrera   +84 more
wiley   +1 more source

Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Saudi Journal of Kidney Diseases and Transplantation, 2006
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, Hachicha J   +10 more
doaj  

ANK1 and EPB41 Variants and the Risk of Steroid‐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

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +1 more source

Identifying Systemic Lupus Erythematosus From Serum Proteomic Profiles Using Machine Learning and Genetic Risk Stratification

Arthritis &Rheumatology, EarlyView.
Objective Proteome‐wide risk models for lupus remain underexplored. We developed classification models to identify lupus from serum proteomic profiles. Methods Patients with lupus and individuals with other autoimmune diseases in the UK Biobank were included.
Mehmet Hocaoǧlu, Jishnu Das, Amr H. Sawalha   +2 more
wiley   +1 more source

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Kidney International Reports, 2017
X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima   +15 more
doaj   +1 more source

Immune Complexes Shape the Pathogenicity of Autoantibodies in Systemic Autoimmune Diseases: Insights From an FcγRIIIA‐Reporter Assay

Arthritis &Rheumatology, EarlyView.
Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki, Masaru Takeshita, Yuki Imai, Hiroyuki Fukui, Kazunori Furuhashi, Kotaro Matsumoto, Jun Kikuchi, Keiko Yoshimoto, Yuko Kaneko   +8 more
wiley   +1 more source

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

Kidney Medicine, 2019
Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj   +1 more source

Proteinuria as an indicator of early renal disease in bull terriers with hereditary nephritis

, 1991
A group of non‐azotaemic bull terriers from families with hereditary nephritis had significant subclinical renal disease. Of the renal function tests carried out, proteinuria, almost exclusively albumin, was a reliable and early indicator of glomerular ...
Sutherland, R.J., Thomas, M.A.B., Clark, W.T., Huxtable, C.R., Robinson, W.F., James, I., Hood, J.C.   +6 more
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