Results 21 to 30 of about 8,547 (234)

Autosomal Dominant Alport Syndrome Caused by a Novel COL4A4 Gene Mutation: a Case Report and Literature Review [PDF]

Zhongguo quanke yixue, 2023
Alport syndrome (AS) is one of the important causes of chronic kidney disease and end-stage renal disease. It is the second most common inherited kidney disease after autosomal dominant polycystic kidney disease.
GUO Ting, ZHANG Jian, DING Ying, YANG Xiaoqing, ZHAI Wensheng, SONG Chundong, ZHANG Xia, ZHANG Bo, GAO Xuguang, LIU Liya
doaj   +1 more source

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov   +5 more
doaj   +1 more source

Systemic lupus erythematosus with various clinical manifestations in a patient with hereditary angioedema: a case report

Allergy, Asthma & Clinical Immunology, 2022
Background Hereditary angioedema (HAE) is an inherited disease characterized by recurrent angioedema without urticaria or pruritus. The most common types of HAE are caused by deficiency or dysfunction in C1 esterase inhibitor (C1-INH-HAE).
Yusuke Ushio, Risa Wakiya, Tomohiro Kameda, Shusaku Nakashima, Hiromi Shimada, Mai Mahmoud Fahmy Mansour, Mikiya Kato, Taichi Miyagi, Koichi Sugihara, Rina Mino, Mao Mizusaki, Emi Ibuki, Norimitsu Kadowaki, Hiroaki Dobashi   +13 more
doaj   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Phacolytic uveitis associated with spontaneous rupture of anterior capsule in a patient with Alport syndrome

Iatreia, 2019
Alport syndrome is a rare genetic disorder due to mutations involving the coding genes for type IV collagen characterized by renal failure, sensorineural hearing loss and ocular abnormalities.
López Torres, Vanessa, Ramírez-Cheyne, Julián Andrés , Lozano Cruz, Edgar, Salamanca Libreros, Omar Fernando   +3 more
doaj   +1 more source

Addressing Economic Insecurities Can Improve Patient‐Reported Outcomes in Lupus

Arthritis Care &Research, EarlyView.
Objective Economic insecurities, such as food, housing, transportation, and financial challenges, are modifiable risk factors and influence patient‐reported outcomes (PROs) in systemic lupus erythematosus (SLE). We examined the following: (1) associations between economic insecurities and PROs, and (2) the impact of screening and addressing economic ...
Jay Patel, Tripti Singh, Meredith Ingersoll, Shelby Gomez, Amanda Weber, Sarah E. Panzer, Sancia Ferguson, Christie M. Bartels, Shivani Garg   +8 more
wiley   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

Morphological characteristics of urine erythrocytes in children with erythrocyturia

Zdorovʹe Rebenka, 2017
Background. Nephropathies with erythrocyturia make up about 1/3 of all diseases of the kidneys and the urinary system, and they have some difficulties in differential diagnostics. Quite often, erythrocyturia is the only symptom of these diseases.
V.A. Minakova, I.V. Bagdasarova
doaj   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Integrating Patient‐Reported Quality Measures in Systemic Lupus Erythematosus: Development of the American College of Rheumatology Implementation Guide

Arthritis Care &Research, EarlyView.
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah, Cherish Wilson, Christine Hariz, Christie M. Bartels, Shanthini Kasturi, Wambui Machua, Amy Bennett, Kate Chiseri, Allison Plitman, Starla Hairston Blanks, April Jorge, Patti Katz, Jinoos Yazdany, Shivani Garg   +13 more
wiley   +1 more source