Results 91 to 100 of about 62,388 (273)

Protein kinase A is a dependent factor and therapeutic target in mouse models of fibrous dysplasia

Nature Communications
Fibrous dysplasia is a skeletal disorder caused by activating mutations in Gαs, leading to bone fractures, deformities, and pain. Protein kinase A (PKA), the principal effector of Gαs, plays critical roles in various biological processes.
Zhongyu Liu, Lu Xing, Wenlong Huang, Ning Ji, Hang Zhao, Qianming Chen, Xianglong Han, Ding Bai, Xuefeng Zhao   +8 more
doaj   +1 more source

Binder’s Syndrome [PDF]

, 2011
Binder's Syndrome also known as Maxillo-Nasal Dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear.
Babu, SG, Castelino, RL, Rao, KAHT, Shetty, SR   +3 more
core  

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +3 more sources

Beyond Tradition: An Integrated Toxicological, Ecological, and Public Health Perspective on Aristolochic Acids

Journal of Applied Toxicology, EarlyView.
ABSTRACT Aristolochia species have long been used in traditional medicine for their presumed anti‐inflammatory, analgesic and antimicrobial properties. However, extensive toxicological and epidemiological evidence now demonstrates that these plants contain aristolochic acids (AAs) I and II, highly potent nephrotoxic, genotoxic, and carcinogenic ...
Victor Ventura de Souza, Lara Rodrigues De Andrade, Tatiana da Silva Souza   +2 more
wiley   +1 more source

A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl

Clinical Case Reports
Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings.
Lassana Cissé, Abdoulaye Yalcouyé, Kadidia Oumar Touré, Youlouza Coulibaly, Alassane Baneye Maiga, Salia Bamba, Dramane Diallo, Salimata Diarra, Abdoulaye Taméga, Oumou Traoré, Mahamadou Kotioumbé, Moussa Aly Sangaré, Hamidou Oumar Ba, Assiatou Simaga, Fatogoma Issa Koné, Oumar Samassekou, Amadou Koné, Cheick Oumar Guinto, Guida Landouré, the H3Africa consortium   +19 more
doaj   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Age at the time of surgery does not compromise the outcome of deepening trochleoplasty: Results from under and over 30 years old

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Purpose This study aimed to evaluate whether age at the time of surgery influences patient‐reported outcome measures (PROMs) in patients undergoing tailored surgical treatment for lateral patellar dislocation (LPD), including deepening trochleoplasty (TP). Methods This retrospective cohort study used a prospectively maintained database.
Danko Dan Milinkovic, Felix Zimmermann, Julian Fluegel, Sebastian Schmidt, Peter Balcarek   +4 more
wiley   +1 more source

Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family [PDF]

, 2018
Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals ...
Barbato, E., Galluccio, G., Impellizzeri, A., LA MONACA, CAMILLA, Midulla, G., Romeo, U.   +5 more
core   +2 more sources

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature. [PDF]

, 2018
The restrictive lung disease can be exacerbated by growing fundus in women with osteogenesis imperfecta type III. Regional anesthesia can be performed in these women.
Al-Kouatly, Huda B., Fries, Melissa, Kawakita, Tetsuya, Singh, Jasbir   +3 more
core   +1 more source