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Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from thre

In spite of the similar structural and genomic organization of human immunodeficiency viruses type 1 and 2 (HIV-1 and HIV-2), striking differences exist between them in terms of replication dynamics and clinical manifestation of infection. Although the pathomechanism of HIV-1 infection is well characterized, relatively few data are available regarding HIV-2 viral replication and its interaction wi

Objective: To assess the value of second-look resection (SLR) in stage T1 bladder cancer (BCa) with respect to progression-free survival (PFS), and also the secondary outcomes recurrence-free survival (RFS), bladder-cancer-specific survival (CSS), and cystectomy-free survival (CFS). Patients and methods: The study included 2456 patients diagnosed with stage T1 BCa 2004–2009 with 5-yr follow-up reg

Background: Patients in intensive care units (ICUs) are among the most vulnerable, and they require support to start their recovery. The design of the patient area in the ICU can play a prominent role in both the quality of care and patients’ recovery. The lighting environment has the opportunity to restore and strengthen the natural human circadian rhythm and health. Aim: To evaluate patients’ se

Sialylations are post-translational modifications of proteins and lipids that play important roles in many cellular events, including cell-cell interactions, proliferation, and migration. Tumor cells express high levels of sialic acid (SA), which are often associated with the increased invasive potential in clinical tumors, correlating with poor prognosis. To overcome the lack of natural SA-recept

A common problem when studying groundwater contamination in low-income countries is that data required for a detailed risk assessment are limited. This study presents a method for assessment of the potential impact of groundwater contamination by total petroleum hydrocarbons (TPH) in a data-scarce region. Groundwater modeling, using the MODFLOW, was used to simulate regional-scale flow pattern. Th

Background The aim of the study was to evaluate how different parameters in the preoperative, perioperative, and postoperative period affect time to full enteral feeding (TFEF) in children undergoing pyloromyotomy. Methods A retrospective study of all children operated for infantile hypertrophic pyloric stenosis between 2001 and 2017 was conducted. Parameters in demographics and in the preoperativ

Nemo-like kinase (NLK) is a member of the mitogen-activated protein kinase family of kinases and shares a highly conserved kinase domain with other mitogen-activated protein kinase family members. The activation of NLK contributes to the pathogenesis of Diamond–Blackfan anemia (DBA), reducing c-myb expression and mechanistic target of rapamycin activity, and is therefore a potential therapeutic ta

BACKGROUND: Tailored and culturally appropriate latent tuberculosis (TB) infection screening and treatment programs, including interventions against TB stigma, are needed to reduce TB incidence in low TB incidence countries. However, we lack insights in stigma related to latent TB infection (LTBI) among target groups, such as asylum seekers and refugees. We therefore studied knowledge, attitudes,

Background: Familial cancer can be defined through the occurrence of the same cancer in two or more family members. We describe a nationwide landscape of familial cancer, including its frequency and the risk that it conveys, by using the largest family database in the world with complete family structures and medically confirmed cancers. Patients/methods: We employed standardized incidence ratios

Aim: Impaired regulation of glucose metabolism in childhood adversely affects bone health. We assessed the effect of fasting hyperglycemia and insulin resistance on bone turnover markers in prepubertal children with normal glycemia (<100 mg/dL) and fasting hyperglycemia (100-125 mg/dL). Methods: Glucose, hemoglobin A1c, IGF-I (insulin-like growth factor I), iP1NP (N-terminal propeptide of type I p

Background: Allergic contact dermatitis from glucose sensors may interfere with their ongoing application. Objective: To evaluate a series of Spanish patients with contact dermatitis to glucose sensors regarding former sources of contact allergens, patch test results, and outcomes from the ongoing use of the device. Methods: A series of patients with contact dermatitis from glucose sensors was inv

Objective: To study the relationship between sociodemographic factors and pyelonephritis. Methods: A nationwide open cohort study consisting of 2,052,873 women (76.2% Swedish-born) aged 15-50 years was conducted (1997-2018). The outcome was the first event of acute uncomplicated pyelonephritis diagnosed in primary healthcare settings in relation to the sociodemographic factors. Cox regression mode

The molecular form and immunochemical properties of the J chain populations released on reduction and carboxymethylation of normal human plasma, milk, saliva and of plasma containing IgA or IgM M-components were investigated. A procedure was devised to release the entire J chain population from these various sources and to produce immunochemically identical J chain populations containing only J ch

The major inhibitor of the cysteine class of proteinases found in human body fluids, such as spinal fluid, milk, and seminal plasma, is cystatin C. In this study we show that human bronchoalveolar fluid also contains cystatin C and examine cystatin C expression by alveolar macrophages in vitro. Immunoprecipitation of extracts of metabolically labeled cells and immunoblotting of cellular extracts a

Cystatin C, a 13 kDa-protein, is produced by most nucleated cells and is catabolized by the renal tubular cells after passing the glomerular filter. It belongs to the family 2 of the cystatin superfamily of proteins. The function of cystatin C is to regulate the activity of cysteine proteinases and cystatin C seems to be the main cysteine proteinase inhibitor of most investigated human biological