Results 121 to 130 of about 45,888 (262)

Potential Survival Benefit of Neoadjuvant Docetaxel, Cisplatin and 5‐Fluorouracil Therapy in Patients With Esophageal Squamous Cell Carcinoma With Multiple Lymph Node Metastases: A Single‐Institute Propensity Score Analysis

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
Although neoadjuvant chemotherapy with fluorouracil, cisplatin, and docetaxel (NAC‐DCF) is the current standard neoadjuvant regimen for esophageal squamous cell carcinoma, its substantial toxicity underscores the need to identify patients who derive the greatest benefit.
Eiji Higaki   +9 more
wiley   +1 more source

Lymphocyte‐C‐Reactive Protein Ratio as Promising New Marker for Predicting Surgical Site Infection in Children With Ulcerative Colitis

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background Surgical site infection (SSI) is a major complication after ileal pouch–anal anastomosis (IPAA) in pediatric ulcerative colitis (UC), significantly impairing quality of life. The lymphocyte‐to–C‐reactive protein ratio (LCR), a composite marker of systemic inflammation and immune/nutritional status, has emerged as a potential ...
Yuhki Koike   +9 more
wiley   +1 more source

The psychosocial toll of Dublin III on asylum seekers in the Netherlands

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract The Dublin III Regulation determines which EU Member State is responsible for examining asylum claims, but its implementation carries significant consequences for those subjected to it. This study examines how Dublin III, as implemented in the Netherlands, affects asylum seekers' psychosocial wellbeing using Silove′s Adaptation and Development
Imen El Amouri
wiley   +1 more source

A survey of pain and musculoskeletal dysfunction prevalence after gender-confirming surgery of the urogenital system. [PDF]

open access: yesJ Womens Pelvic Health Phys Ther
Alappattu MJ   +4 more
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +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

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

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