Results 91 to 100 of about 546,162 (334)

Urinary and reproductive tract infection symptoms and menstrual hygiene practices in refugee camps in Jordan: A cross-sectional study

open access: yesWomen's Health
Background: Urinary tract infections and reproductive tract infections pose significant health risks, particularly among women living in challenging conditions.
Joud Al Karmi   +8 more
doaj   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto   +52 more
wiley   +1 more source

Hospital-Acquired Urinary Tract Infections: Results of a Cohort Study Performed in an Internal Medicine Department

open access: yesActa Médica Portuguesa, 2017
Introduction: Urinary tract infections are the most frequent healthcare associated infections, being related to both high costs and morbidity. Our intention was to carry out an epidemiological characterization of hospital acquired urinary tract ...
Maria João Lobão, Paulo Sousa
doaj   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev   +14 more
wiley   +1 more source

Prevalence and Pattern of Microbial Resistance of Urinary Pathogens Resistant to Quinolones [PDF]

open access: yesBeyhagh
Background and Aim: Urinary tract infection is an infection in any part of the urinary system including kidneys, ureters, bladder and urethra. Most infections involve the lower urinary tract such as the bladder and urethra. Women are more susceptible to
Zeinab Siami
doaj  

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

open access: yesAmerican 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   +7 more
wiley   +1 more source

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

open access: yesAmerican 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   +8 more
wiley   +1 more source

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