Results 61 to 70 of about 202,426 (318)

Long‐Term Outcomes After Stoma Creation in Crohn's Disease: A Retrospective Cohort Study of 422 Patients

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
ABSTRACT Aim Stoma creation is often required in Crohn's disease (CD), most commonly because of progressive anorectal disease. As stoma closure strongly influences long‐term quality of life and surgical decision‐making, this study evaluated the indications and long‐term outcomes of stoma creation in patients with CD.
Kentaro Nagano   +9 more
wiley   +1 more source

Advances in BODIPY Derivatives for Antibacterial Phototherapy

open access: yesAngewandte Chemie, EarlyView.
This review systematically summarizes the design strategies and structure‐activity relationships of BODIPY‐based antibacterial phototherapy, covering molecular engineering of small‐molecule photosensitizers and nanoplatforms, bacterial targeting and carrier design, and discussing the challenges and future perspectives associated with clinical ...
Li Lv   +9 more
wiley   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

Study on the predictive value of preoperative CT features for the mitotic index of GIST based on the nomogram

open access: yesScientific Reports
This study aimed to construct a Nomogram based on preoperative CT features to predict the mitotic index in gastrointestinal stromal tumors and to establish preoperative risk stratification.
Ren Yingzheng   +4 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

VCAM-1 predicts poor prognosis and modulates immune infiltration in gastric cancer: a TCGA-based bioinformatics study

open access: yesFrontiers in Genetics
BackgroundGastric cancer (GC) is a leading cause of cancer-related mortality; however, biomarkers predicting its immunotherapy resistance remain scarce.
Cheng Wu   +7 more
doaj   +1 more source

Giant recurrent left inguinal hernia with femoral nerve injury: a report of a rare case

open access: yesBMC Surgery, 2020
Background Giant inguinal hernia(GIH), a rare disease, has brought great challenges to surgeons. GIH is defined as an inguinal hernia that extends below the midpoint of the inner thigh in standing position.
Manzhou Lin   +5 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Inflammatory markers as predictors of severity in adult incarcerated groin hernias – a retrospective comparative study

open access: yesBMC Surgery
Background Diagnosing incarcerated groin hernia and predicting its progression to strangulation remains challenging. This study investigates whether blood inflammatory markers can aid in diagnosing incarcerated groin hernias and assessing their severity.
Xigui Tian, Caihao Tang, Jiaming Lan
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

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