carrier test

IMPORTANCE: Among women diagnosed with primary breast cancer (BC) at or younger than age 40 years, prior data suggest that their risk of a second primary BC (SPBC) is higher than that of women who are older when they develop a first primary BC. OBJECTIVE: To estimate cumulative incidence and characterize risk factors of SPBC among young patients with BC. DESIGN, SETTING, AND PARTICIPANTS: Participants were enrolled in the Young Women's Breast Cancer Study, a prospective study of 1297 women aged 40 years or younger who were diagnosed with stage 0 to III BC from August 2006 to June 2015...

PURPOSE: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. OBSERVATIONS: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing...

BACKGROUND: An ABCD-GENE (age, body mass index, chronic kidney disease, diabetes, and CYP2C19 genetic variants) score ≥10 predicts reduced clopidogrel effectiveness, but its association with response to alternative therapy remains unclear. OBJECTIVES: The aim of this study was to evaluate the association between ABCD-GENE score and the effectiveness of clopidogrel vs alternative P2Y12 inhibitor (prasugrel or ticagrelor) therapy after percutaneous coronary intervention (PCI)...

Borax is strictly regulated in the food processing and pharmaceutical industry due to its physiological toxicity, and the development of a direct analytical method is essential for effectively monitoring the borax abuse. In this work, the fluorescence properties of flavonoids, including flavones, isoflavones and flavonols, were systematically investigated from aqueous to borax solutions, and it was found that the weak intrinsic fluorescence of flavonols could be pervasively sensitized by borax. A natural flavonol, morin, was subsequently chosen as a representative probe to develop a turn-on fluorescence sensing method for borax analysis, which achieved a linear response spanning four orders of magnitude with a detection limit of 1...

The risk of developing Alzheimer's disease (AD) significantly increases in individuals carrying the APOEε4 allele. Elderly cognitively healthy individuals with APOEε4 also exist, suggesting the presence of cellular mechanisms that counteract the pathological effects of APOEε4; however, these mechanisms are unknown. We hypothesized that APOEε4 carriers without dementia might carry genetic variations that could protect them from developing APOEε4-mediated AD pathology. To test this, we leveraged whole-genome sequencing (WGS) data in the National Institute on Aging Alzheimer's Disease Family Based Study (NIA-AD FBS), Washington Heights/Inwood Columbia Aging Project (WHICAP), and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) cohorts and identified potentially protective variants segregating exclusively among unaffected APOEε4 carriers...

UNLABELLED: Piscine lactococcosis is a significant threat to cultured and wild fish populations worldwide. The disease typically presents as a per-acute to acute hemorrhagic septicemia causing high morbidity and mortality, recalcitrant to antimicrobial treatment or management interventions. Historically, the disease was attributed to the gram-positive pathogen Lactococcus garvieae . However, recent work has revealed three distinct lactococcosis-causing bacteria (LCB)- L. garvieae, L. petauri, and L...

Capturing carbon dioxide (CO2) from flue gases is a crucial step towards reducing CO2 emissions. Among the various carbon capture methods, facilitated transport membranes (FTMs) have emerged as a promising technology for CO2 capture owing to their high efficiency and low energy consumption in separating CO2. However, FTMs still face the challenge of losing mobile carriers due to weak interaction between the carriers and membrane matrix. Herein, we report a sulfonated chitosan (SCS) gel membrane with confined amine carriers for effective CO2 capture...

BACKGROUND: Different obturation techniques are being used to improve canal sealing, thereby minimizing marginal leakage. AIMS AND OBJECTIVES: To evaluate the marginal leakage of three different obturating materials and techniques using stereomicroscope. MATERIALS AND METHODS: Thirty freshly extracted maxillary anterior teeth were collected and were divided into three groups of 10 each for which the biomechanical preparation was done. The teeth were divided into three experimental groups according to the obturation material and technique used, Group I: gutta-percha with AH Plus root canal sealer (lateral condensation): Group II: thermoplasticized gutta-percha technique-non-carrier-based (calamus) with AH Plus sealer (backfill): Group III: C point (self-sealing root canal obturating system) with bioceramic sealer (single cone)...

The Rh blood grouping system is a critical standardized test in transfusion medicine, especially for the cases related to haemolytic transfusion reactions and neonatal haemolytic disease caused by clinical RhD blood group incompatibility. In the present case report, we presented two cases with the uncommon RHD gene variation RHD * DEL37 . The blood samples of the two subjects were mistakenly identified as RhD-negative through conventional serological testing. Firstly, both blood samples were tested negative for the RhD antigen using traditional tube test and gel microcolumn methods...

Suicide is a global public health issue, with a particularly high incidence in individuals suffering from Major Depressive Disorder (MDD). The role of cholesterol in suicide risk remains controversial, prompting investigations into genetic markers that may be implicated. This study examines the association between CYP46A1 polymorphisms, specifically SNPs rs754203 and rs4900442, and suicide risk in a Mexican MDD patient cohort. Our study involved 188 unrelated suicide death victims, 126 MDD patients, and 144 non-suicidal controls...

UNLABELLED: Asbestos and BAP1 germline mutations are risk factors for malignant mesothelioma (MM). While it is well accepted that amphibole asbestos is carcinogenic, the role of serpentine (chrysotile) asbestos in MM has been debated. To address this controversy, we assessed whether minimal exposure to chrysotile could significantly increase the incidence and rate of MM onset in germline Bap1-mutant mice. With either crocidolite or chrysotile, and at each dose tested, MMs occurred at a significantly higher rate and earlier onset time in Bap1-mutant mice than in wild-type littermates...

Based on the typical similar repeat units (abcdefg) n of α-helical structure, the peptide H was designed to self-assemble into an organohydrogel in response to pH. Depending on the different pH, the proportions of secondary structure, microstructure, and mechanical properties of the gel were investigated. Circular dichroism (CD) and Fourier transform infrared (FT-IR) showed that the proportion of α-helical structure gradually increased to become dominant with the increase of pH. Combining transmission electron microscopy (TEM) and atomic force microscopy (AFM), it was found that the increase of the ordered α-helix structure promoted fiber formation...

The aim of this paper is to present methods for corrosion mitigation in molten salt environments. The corrosion of structural materials depends directly on the redox potential of the salt. When the redox potential of the salt is higher than the standard potentials of the elements constituting the structural materials, corrosion occurs. If the reverse is true, no corrosion is observed. Herein, a methodology for calculating the theoretical potential of a molten salt is provided and compared with experimental measurements...

Morellic acid (MA), a typical compound found in Garcinia plants, is known for its anticancer properties. In present study, we isolated MA from resin of Garcinia hanburyi Hook. f. using preparative chromatography. We have successfully prepared MA-loaded nanostructured lipid carriers (MA-NLCs) and refined the production process via orthogonal testing. Optimization of the preparation process resulted in an average particle size of 165.50±1.70 nm with a PDI of 0.19±0.01. The EE% and DL% of MA-NLCs were 78...

A now-expired medication called isoprinosine was examined in NaOH (0.50 M) solutions as a potential novel inhibitor of aluminum corrosion. The inhibitory effectiveness of the isoprinosine compounds was examined utilizing different electrochemical tests (open circuit potential OCP, potentiodynamic polarization and electrochemical impedance spectroscopy EIS), surface examination and quantum calculations. Increases in isoprinosine concentration were seen to increase the inhibitory efficacy. It was discovered that the inhibitory action, which results in the inhibition of charge and mass transfer and protects the aluminum against harmful ions, was brought on by isoprinosine molecules adhering to the aluminum surface...

Bioactive peptides (BP) are recognized for their ability to function as antioxidants and maintain lipid stability. They may have positive health effects, including antihypertensive, anti-inflammatory, antimicrobial, osteoprotective, gut health and immunomodulatory properties, but are poorly tested in cats. Our primary objective was to determine the apparent total tract digestibility (ATTD) of BP-containing kibble diets and assess how the fecal characteristics, metabolites, and microbiota were affected in adult cats...

Breast cancer affects around 13% of women. Breast cancer gene 1 ( BRCA1 ) carriers are prone to lung and lymph node metastasis, while breast cancer gene 2 ( BRCA2 ) carriers tend to have bone metastasis. Findings of pulmonary nodules, mediastinal lymphadenopathy, and elevated markers such as cancer antigen (CA) 15-3 and CA 27-29 suggest metastatic disease. Here, we present the case of a patient with BRCA1 -positive breast cancer in remission and a history of ovarian cancer with mediastinal lymphadenopathy and pulmonary nodules, with avid fluorodeoxyglucose uptake on positron emission tomography (PET) scan and elevated CA 15-3 and CA 27-29...

The MYUTH gene plays a critical role in preserving the integrity of the human genome, with mutations being identified in several different cancer diagnoses. It serves its purpose by encoding a DNA glycosylase enzyme responsible for preventing oxidative damage through the excision of adenine that is incorrectly paired with guanine or cytosine. Mutations of the MUTYH gene have been most frequently associated with MUTYH-associated polyposis (MAP) and colorectal cancer. Biallelic mutations of the MUTYH gene are implicated in MAP, and carriers of this mutation have an increased lifetime risk of developing colorectal cancer of 43% to 100%, depending on the appropriate screening and surveillance steps taken...

INTRODUCTION: Long QT syndrome (LQTS) is a common congenital cause of fatal cardiac arrhythmia. Characteristic clinical findings are prolonged QT interval and ventricular arrhythmia on electrocardiogram (ECG), syncope, seizure, and sudden death. It is a genetically heterogeneous disease. To date, disease-causing variant have been reported in seventeen genes. The AKAP9 is still considered controversial among those genes. CASE REPORT: We report the case of a 10-year-old female who was born from a non-consanguineous Turkish couple...

AIMS: Catheter ablation (CA) of ventricular tachycardia (VT) has become an important tool to improve clinical outcomes in patients with appropriate transvenous implantable cardioverter defibrillator (ICD) shocks. The aim of our analysis was to test whether VT ablation (VTA) impacts long-term clinical outcomes even in subcutaneous ICD (S-ICD) carriers. METHODS AND RESULTS: International Subcutaneous Implantable Cardioverter Defibrillator (iSUSI) registry patients who experienced either an ICD shock or a hospitalization for monomorphic VT were included in this analysis...