Results 41 to 50 of about 28,484 (289)

Urological Problems in Patients with Menkes Disease [PDF]

Journal of Korean Medical Science, 2019
Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic "kinky" hair.
Mi Young Kim, Myung Hyun Cho, Hae Il Cheong, Hae Il Cheong, Seong Heon Kim, Kwanjin Park, Young Hun Choi, Young Jae Im, Jong Hee Chae, Ji Hyun Kim, Hee Gyung Kang   +10 more
openaire   +3 more sources

Radiomics‐Based Unsupervised Clustering Identifies Subtypes Associated With Prognosis and Immune Microenvironment in Clear Cell Renal Cell Carcinoma: A Multicenter Study

Advanced Science, EarlyView.
This study developed an unsupervised radiomics system integrating CT imaging and multi‐omics data to stratify clear cell renal cell carcinoma into two subtypes with distinct clinical outcomes. Cluster 1 showed lower recurrence risk and active immunity, while Cluster 2 exhibited higher recurrence risk, enriched VHL/KDM5C mutations, immunosuppressive ...
Yusheng Guo, Bingxin Gong, Yi Li, Jie Lou, Shuai Shan, Xiaodong Zhang, Qiang Lu, Dongyong Zhu, Qing Sun, Lianwei Miao, Yuanxi Li, Yu‐Dong Zhang, Wei Tan, Lian Yang, Chuansheng Zheng   +14 more
wiley   +1 more source

Applicability of COVID-19 Pandemic Recommendations for Urology Practice: Data from Three Major Italian Hot Spots (BreBeMi)

European Urology Open Science, 2021
Background: Lombardy has been the first and one of the most affected European regions during the first and second waves of the novel coronavirus (severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2]).
Paolo Dell’Oglio, Giovanni Enrico Cacciamani, Fabio Muttin, Giuseppe Mirabella, Silvia Secco, Marco Roscigno, Federico Alessandro Rovati, Michele Barbieri, Richard Naspro, Angelo Peroni, Antonino Saccà, Federico Pellucchi, Aldo Massimo Bocciardi, Claudio Simeone, Luigi Da Pozzo, Antonio Galfano   +15 more
doaj  

Safety and feasibility of platelet rich fibrin matrix injections for treatment of common urologic conditions [PDF]

Investigative and Clinical Urology, 2018
Purpose: Autologous platelet rich plasma (PRP) is used increasingly in a variety of settings. PRP injections have been used for decades to improve angiogenesis and wound healing.
Ethan L Matz, Amy M Pearlman, Ryan P Terlecki   +2 more
doaj   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Genitourinary Cancer Care in Low- and Middle-Income Countries: Disparities in Incidence and Access to Care

Société Internationale d’Urologie Journal
Despite the considerable global burden of urologic malignancies, Low- and middle-income countries (LMICs) often encounter significant challenges in caring for patients with urologic malignancies.
Kanha Shete, Joshua Ghoulian, Brian Hu, Muhannad Alsyouf   +3 more
doaj   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Impact of a Mediterranean diet on prevention and management of urologic diseases

BMC Urology
Compared to a Western diet, the Mediterranean diet moves away from red meat and processed foods. Universally regarded as a healthier dietary alternative, the Mediterranean diet has garnered scientific endorsement for its ability to confer an array of ...
Mark I Sultan, Shady A Ibrahim, Ramy F Youssef   +2 more
doaj   +1 more source

Valproic Acid-induced Priapism In A Child

The Journal of Pediatric Academy, 2021
A complete or partial involuntary erection that occurs in absence of a sexual stimulation and lasts longer than four hours is defined as priapism. Etiology usually includes sickle cell disease or hematologic malignancies.
Esra Türe, Abdullah Yazar, Fatih Akın, Ahmet Osman Kılıç   +3 more
doaj