Results 171 to 180 of about 1,553,534 (313)

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

Urinary Tract Infection Detection in Digital Remote Monitoring: Strategies for Managing Participant-Specific Prediction Complexity [PDF]

arXiv
Urinary tract infections (UTIs) are a significant health concern, particularly for people living with dementia (PLWD), as they can lead to severe complications if not detected and treated early. This study builds on previous work that utilised machine learning (ML) to detect UTIs in PLWD by analysing in-home activity and physiological data collected ...
arxiv  

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

Discussion on Lesions of the Intestine and of the Urinary Tract Resembling Disease of the Female Genital Tract [PDF]

, 1953
Lionel E. C. Norbury, E. W. Riches, Donald A. MacLeod   +2 more
openalex   +1 more source

Follow-up after infants younger than 2 months of age with urinary tract infection in Southern Israel: epidemiologic, microbiologic and disease recurrence characteristics

Brazilian Journal of Infectious Diseases, 2016
Background: The timing of most recurrences after neonatal urinary tract infection is during the first year of life, with peak incidence 2–6 months after the initial infection.
Evgenia Gurevich, Dov Tchernin, Ruth Schreyber, Robert Muller, Eugene Leibovitz   +4 more
doaj  

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

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

ATELECTASTS DURING OPERATIONS ON THE UPPER URINARY TRACT [PDF]

, 1946
Albert Faulconer, Thomas R. Gaines, John Grove   +2 more
openalex   +1 more source

Indicaties, behandeling en resultaat van foleykathetercystostomie bij kleine huisdieren: zes gevallen [PDF]

, 2007
Indirect cystostomy is performed to provide urinary diversion in animals with urinary obstruction. Tube cystostomy is a relatively easy technique for rerouting the urine outflow. Four cats and two dogs underwent tube cystostomy with a foleycatheter.
De Rooster, Hilde, Roth, Gaëlle
core   +1 more source

Urinary tract infections: epidemiology, mechanisms of infection and treatment options

Nature Reviews Microbiology, 2015
A. Flores-Mireles, Jennifer N. Walker, M. Caparon, S. Hultgren   +3 more
semanticscholar   +1 more source