Research Infinity - Search Results

Biomedical

Optimization of Magnetic Susceptibility Weighted Imaging for Female Pelvic Scans

Background and Objectives: The existing recommendations for female pelvic magnetic susceptibility weighted imaging MRI (FP-SWI) have not been optimized to capture the disease characteristics of the female pelvis. Therefore, it is imperative to explore acquisition parameters before conducting larger-scale studies. To establish optimized flip angle (FA) for acquiring FP-SWI to improve the image qual...
Posted 7 months ago

Biomedical

A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is believed to result from an autosomal dominant mutation in the fumarate hydratase (FH) gene on chromosome 1. It is characterized by leiomyomas, mainly uterine or cutaneous, and renal cell carcinoma (RCC). The most common type of RCC associated with HLRCC is type II papillary RCC although other types are seen. Of note, chromophob...
Posted 7 months ago

Biomedical

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome

In hereditary leiomyomatosis and renal cell carcinoma syndrome, fumarate hydratase–deficient renal cell carcinomas typically present as aggressive, unilateral, often cystic masses with heterogeneous enhancement. These tumors can metastasize early, making appropriate imaging and staging critical for diagnosis and management. Teaching point: When a renal lesion suspected of RCC is identified in...
Posted 7 months ago

Biomedical

Clear cell and papillary renal cell carcinomas in hereditary papillary renal cell carcinoma (HPRCC) syndrome: a case report

Background Hereditary papillary renal cell carcinoma (HPRCC) is a rare autosomal dominant disease characterized by the development of multiple and bilateral papillary type I renal cell carcinomas (RCC) and papillary adenomas caused by activating mutations in the MET proto-oncogene. Classically, distinctive histological features of RCC are described according to the familial renal cell carcinoma s...
Posted 7 months ago

Biomedical

Genetic susceptibility to hereditary non-medullary thyroid cancer

Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previously reported, accounting for 5–15% of NMTC cases. Familial NMTC is further classified as non-syndromic and the less common syndromic FNMTC. Although syndromic NMTC has well-known genetic risk...
Posted 7 months ago

Biomedical

Beyond the pill: contraception and the prevention of hereditary ovarian cancer

BRCA1 and BRCA2 mutation carriers face an elevated lifetime risk of developing ovarian cancer. Oral contraceptives have been shown to significantly decrease the risk of ovarian cancer by approximately 50% in this high-risk population. Changes in contraceptive formulations and patterns of use over time have introduced lower hormonal dosages, different steroid types and non-oral routes of administra...
Posted 7 months ago

Biomedical

Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase (FH) gene that manifests with cutaneous leiomyomas, uterine fibroids, and renal cell cancer (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is no standardized therapy for advanced HLRCC-RCC. In this s...
Posted 7 months ago

Biomedical

A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers

Current National Comprehensive Cancer Network ® (NCCN ®) guidelines for Colorectal Genetic/Familial High-Risk Assessment provide limited guidance for genetic testing for individuals with already diagnosed hereditary cancer conditions. We are presenting the case of a 36-year-old woman who was diagnosed with Lynch Syndrome at age 23 after genetic testing for a familial variant (c.283del) in the ML...
Posted 7 months ago

Biomedical

Review of Hereditary non-polyposis colorectal cancer

Introduction. Hereditary non-polyposis colorectal cancer is also known as Lynch syndrome. It is autosomal dominant and is one of the most common causes of inherited colon cancer. A family history of colorectal cancer in first-degree relatives in two generations, and one case before the age of 50 is seen with Lynch syndrome The purpose of this paper is to provide a review of hereditary non-p...
Posted 7 months ago

Biomedical

Current prospects of hereditary adrenal tumors: towards better clinical management

Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome...
Posted 7 months ago

Biomedical

Sequential therapy for hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinoma: a case report and report of a new family pedigree

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal-dominant disorder caused by a heterozygous germline mutation in the fumarate hydratase (FH) gene. HLRCC is clinically characterized by the development of three tumors: uterine leiomyomata, cutaneous leiomyomata, and renal cell carcinoma (RCC). HLRCC-associated RCC is aggressive and diagnosed at a much earlier age than spor...
Posted 7 months ago

Biomedical

Genetic testing for hereditary breast cancer in Poland: 1998–2022

BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1. The majority of mutations consist of three founder mutations. A rapid inexpensive test for these three mutations can be used to screen all Polish adults at a reasonable cost. In the reg...
Posted 7 months ago

Biomedical

Could fumarate hydratase germline mutation in cutaneous leiomyomas predict Hereditary Leiomyoma and Renal Cell Cancer (HLRCC)?

Summary

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a genetic syndrome characterized by the development of cutaneous leiomyomas, uterine fibroids, and an increased risk of renal cell carcinoma. A recent study by You et al. explored the potential predictive value of fumarate hydratase (FH) germline mutations in cutaneous leiomyo...
Posted 7 months ago

Biomedical

Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline

Objective The purpose of this guideline is to make recommendations regarding the care of women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2 Methods Draft recommendations were formulated based on evidence obtained through a systematic review of RCTs, comparative retrospective studies and guideline endorsement. Th...
Posted 7 months ago

Biomedical

Various Histological Types of Renal Cell Carcinoma Associated With Hereditary Papillary Renal Cell Carcinoma (HPRCC): a Case Report

Background: Hereditary papillary renal cell carcinoma (HPRCC) is a rare autosomal dominant disease characterized by the development of multiple and bilateral papillary type I renal cell carcinomas (RCC) and papillary adenomas caused by activating mutations in the MET proto-oncogene. Classically, distinctive histological features of RCC are described according to the familial renal cell carcinoma s...
Posted 7 months ago

Biomedical

Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO

Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing to identify patients with hereditary cancer and determine if this approach augmented existing genet...
Posted 7 months ago

Biomedical

Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature

Introduction Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2, as well as moderate- and low-penetrance genes. Certain moderate...
Posted 7 months ago

Biomedical

Hereditary leiomyomatosis and renal cell cancer syndrome

Introduction: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare autosomal dominantly inherited cancer predisposing syndrome giving rise to cutaneous and uterine leiomyomatosis, leiomyosarcoma and renal cell cancer. Patients with this syndrome harbours germline pathogenic variants in the fumarate hydratase (FH) gene. Case presentation: A 28-year-old Sri Lankan female, a pro...
Posted 7 months ago

Biomedical

A Gene Therapy for Hereditary Nonpolyposis Colorectal Cancer using CRISPR-Cas9 Nickase

Hereditary non-polyposis colorectal cancer (HNPCC) is an inherited disorder characterized by an increased risk of developing colorectal cancer before age 50. HNPCC is predominantly caused by genetic mutations in MLH1 and MSH2, which are involved in DNA mismatch repair. Current standard practice is to perform prophylactic colectomy, resulting in debilitating aftereffects for life. Though the geneti...
Posted 7 months ago

Biomedical

Advanced adenomas may be a red flag for hereditary cancer syndromes

Background: 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypectomy does not change underlying genetic risk. Patients with isolated advanced polyps do not currently qualify for genetic testing unless they have a personal or family history of ...
Posted 7 months ago

Biomedical

Current status of inherited pancreatic cancer

Background It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g.,BRCA1/2,CDKN2A). The second is considered as fami...
Posted 7 months ago

Biomedical

Hereditary Cancer Syndromes: Identifying and Managing High-Risk Patients

Summary

Hereditary cancer syndromes are inherited conditions that increase the risk of cancer, affecting 5-10% of cases. Key factors for identifying high-risk patients include personal/family cancer history and genetic mutations. Management strategies involve surveillance (screening), risk reduction (lifestyle changes, surgery), and chemoprevent...
Posted 7 months ago

Biomedical

Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”

Desmoid Tumors and Familial Adenomatous Polyposis:
CTNNB1 mutations are linked to sporadic desmoid disease. Although APC mutations are mainly associated with inherited FAP, some sporadic desmoid cases may involve APC mutations that correlate with tumor development.
Germline Genetic Basis of Cancer:
Large-scale se...
Posted 7 months ago

Biomedical

Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction

Background Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for...
Posted 7 months ago

Biomedical

A sheep in wolf's clothing; a case of renal leiomyoma masquerading as hereditary leiomyomatosis and renal cell carcinoma

Introduction: Active surveillance has become a standard of care for the management of small renal masses. Decision to transition from surveillance to intervention relies on several factors including growth kinetics, histologic grade on biopsy and patient comorbidities. Management of renal masses in pregnancy presents a unique change when clinical triggers must be weighed with risk to fetus. We pre...
Posted 7 months ago

Biomedical

Evaluation and comparison of hereditary Cancer guidelines in the population

Background Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement acro...
Posted 7 months ago

Biomedical

Hereditary non-polyposis colorectal cancer (HNPCC) and its genetic basis

Summary

Introduction

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an inherited condition that increases the risk of developing colorectal and other types of cancer. It is caused by mutations in one of several genes involved in DNA repair, ...
Posted 7 months ago

No Category

Urinary bladder carcinoma with triplicate differentiations into giant cell sarcomatoid carcinoma, squamous cell carcinoma, and papillary urothelial transitional cell carcinoma: a case report

The author reports a very rare and very unique urinary bladder carcinoma. This carcinoma occurred in a 68-year-old Japanese patient who underwent cystectomy for bladder tumor. The tumor was large polypoid and ulcerated one. Histologically, the tumor consisted of the following three elements: giant cell sarcomatoid carcinoma (70% in area), squamous cell carcinoma (20% in area), and papillary urothe...
Posted 7 months ago

Biomedical

Influence of an Inspiratory Muscle Fatigue Protocol on Older Adults on Respiratory Muscle Strength, Muscle Oxygen Saturation, and Functional Capacity. A randomized controlled trial

Background The fatigue of the inspiratory musculature, particularly the diaphragm, has been demonstrated to exert systemic effects on the body, impacting cardiovascular and performance outcomes. This study aimed to evaluate the influence of an inspiratory muscle fatigue protocol on respiratory muscle strength, functionality, and muscle oxygen saturation in older adults. Methods A double-blinded...
Posted 7 months ago

Biomedical

Relationship among muscle strength, muscle endurance, and skeletal muscle oxygenation dynamics during ramp incremental cycle exercise

Peak oxygen uptake (VO2), evaluated as exercise tolerance, is a strong predictor of life prognosis regardless of health condition. Several previous studies have reported that peak VO2 is higher in those with a greater decrease in muscle oxygen saturation (SmO2) in the active muscles during incremental exercise. However, the skeletal muscle characteristics of individuals exhibiting a greater decrea...
Posted 7 months ago

Biomedical

Growth and Progression of TRAMP Prostate Tumors in Relationship to Diet and Obesity

To clarify effects of diet and body weight on prostate cancer development, three studies were undertaken using the TRAMP mouse model of this disease. In the first experiment, obesity was induced by injection of gold thioglucose (GTG). Age of prostate tumor detection (~33 wk) and death (~43 wk) was not significantly different among the groups. In the second study, TRAMP-C2 cells were injected i...
Posted 6 months ago

Physics Maths Engineering

Climate Change and Livestock Production in Nigeria: Issues and Concerns

Nwosu and Ogbu (2011) provide a comprehensive overview of the challenges posed by climate change to livestock production in Nigeria. They emphasize the need for adaptive measures to address the adverse effects of climate variability on livestock health and productivity. The review underscores the importance of integrating environmental modifications, selective breeding, and nutritional adjustme...
Posted 6 months ago

Biomedical

Antiphospholipid antibodies in patients with antiphospholipid syndrome

Highlights • Antiphospholipid syndrome is a rare systemic autoimmune disease characterized by recurrent pregnancy morbidity or thrombosis in combination with the persistent presence of antiphospholipid antibodies in plasma/serum • Specialists in laboratory medicine should take responsibility for the entire analytical process, so that possible interferences are minimized, and physicians obtai...
Posted 6 months ago

Biomedical

Preanalytical, analytical and postanalytical considerations in circulating microRNAs measurement

Highlights • Methods used for miRNAs expression profiling are quantitative reverse transcription polymerase chain reaction, microarrays, next generation sequencing and droplet digital PCR • To obtain reproducible and accurate miRNAs expression profiling detection, it is crucial to strictly standardize the entire process, starting from choosing the specimen type until the normalization strate...
Posted 6 months ago

Biomedical

What did CRISPR-Cas9 accomplish in its first 10 years?

It’s been 10 years now from the debut of clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9) era in which gene engineering has never been so accessible, precise and efficient. This technology, like a refined surgical procedure, has offered the ability of removing different types of disease causing mutations and restoring key proteins activity with ease of...
Posted 6 months ago

Biomedical

Glucose inhibitor tubes in Croatian laboratories: are we doing well?

Introduction Reliable and accurate measurement of blood glucose concentration is of crucial importance for making clinical decisions in diagnosis diabetes, gestational diabetes and impaired fasting glucose tolerance. Materials and methods Survey was performed in form of questionnaire. Questionnaire was sent to all Croatian laboratories (N = 204) in electronic form using SurveyMonkey cloud-bas...
Posted 6 months ago

Biomedical

Extracellular vesicles and glycans

Highlights • Biological fluids contain nano-sized particles called extracellular vesicles • Extracellular vesicles properties reflect the physiological and pathological state of the parent cells • Extracellular vesicles as analytes are suitable for use in liquid biopsy-based real-time diagnostics • Glycans, complex oligosaccharides, are distinct components of extracellular vesicles mem...
Posted 6 months ago

Physics Maths Engineering

Introducing prediction intervals for sample means

Researchers and practitioners are typically familiar with descriptive statistics and statistical inference. However, outside of regression techniques, little attention may be given to questions around prediction. In the current paper, we introduce prediction intervals using fundamental concepts that are learned in descriptive and inferential statistical training (i.e., sampling error, standard dev...
Posted 6 months ago

Physics Maths Engineering

Prediction interval

Highlights • Prediction interval has a great potential to be used in laboratory medicine • It is a powerful tool for computing personalized reference interval and reference change value • It can be used to assess the stability of analytical systems • It can be used in monitoring the accuracy and reproducibility of analytical systems Monitoring is indispensable for assessing disease pr...
Posted 6 months ago

Biomedical

Machine learning-mediated Passiflora caerulea callogenesis optimization

Callogenesis is one of the most powerful biotechnological approaches for in vitro secondary metabolite production and indirect organogenesis in Passiflora caerulea. Comprehensive knowledge of callogenesis and optimized protocol can be obtained by the application of a combination of machine learning (ML) and optimization algorithms. In the present investigation, the callogenesis responses (i.e., ca...
Posted 6 months ago

Biomedical

Yield prediction for crops by gradient-based algorithms

A timely and consistent assessment of crop yield will assist the farmers in improving their income, minimizing losses, and deriving strategic plans in agricultural commodities to adopt import-export policies. Crop yield predictions are one of the various challenges faced in the agriculture sector and play a significant role in planning and decision-making. Machine learning algorithms provided enou...
Posted 6 months ago

Biomedical

Gene sequence analysis model construction based on k-mer statistics

With the rapid development of biotechnology, gene sequencing methods are gradually improved. The structure of gene sequences is also more complex. However, the traditional sequence alignment method is difficult to deal with the complex gene sequence alignment work. In order to improve the efficiency of gene sequence analysis, D2 series method of k-mer statistics is selected to build the model of g...
Posted 6 months ago

Biomedical

Rural household vulnerability and COVID-19: Evidence from India

The coronavirus disease 2019 (COVID-19) pandemic has affected vulnerable households’ livelihoods in developing countries. Using high-frequency phone survey data from the World Bank, we assess rural Indian households’ vulnerability and poverty status during the pandemic. Results reveal that over three-fifths of Indian rural households are vulnerable to poverty in the context of COVID-19, despit...
Posted 6 months ago

Physics Maths Engineering

Long short-term memory (LSTM)-based news classification model

In this study, we used unidirectional and bidirectional long short-term memory (LSTM) deep learning networks for Chinese news classification and characterized the effects of contextual information on text classification, achieving a high level of accuracy. A Chinese glossary was created using jieba—a word segmentation tool—stop-word removal, and word frequency analysis. Next, word2vec was used...
Posted 6 months ago

Biomedical

Reducing low-value imaging - stakeholders’ assessment of an intervention to improve imaging services

Abstract Background An intervention to reduce low-value magnetic resonance imaging (MRI) was designed and implemented in private imaging centres in Norway in October 2022. The intervention used return letters for poor referrals of MRI of the lower back, brain and knee at private imaging centres in Norway. The study aimed to investigate key stakeholders’ experien...
Posted 6 months ago

Physics Maths Engineering

Comparative Investigation of Pressure Effect on Structural Stability, Electronic and Optical Response of LaXO&lt;sub&gt;3&lt;/sub&gt; (X = Al, In, Ga) for Optoelectronic Applications

A first principle study intense on the density functional theory with Heydscuseria-Ernzerhof screened hybrid functional hybrid function (HSEO6) is used to assess the structural, Electronic, elastic, mechanical and optical responses of LaXOlt;subgt;3lt;/subgt; (X = Al, In, Ga) perovskite materials. The compressive investigation under the external static isotropic pressure (P= 0 to 80GaP), phase sta...
Posted 6 months ago

Physics Maths Engineering

Michaelis–Menten kinetics during dry etching processes

The chemical etching of germanium in Br2 environment at elevated temperatures is described by the Michaelis–Menten equation. The validity limit of Michaelis–Menten kinetics is subjected to the detailed analysis. The steady-state etching rate requires synergy of two different process parameters. High purity gas should be directed to the substrate on which intermediate reaction product does not ...
Posted 6 months ago

Biomedical

Stochastic attractor models of visual working memory

This paper investigates models of working memory in which memory traces evolve according to stochastic attractor dynamics. These models have previously been shown to account for response-biases that are manifest across multiple trials of a visual working memory task. Here we adapt this approach by making the stable fixed points correspond to the multiple items to be remembered within a single-tria...
Posted 6 months ago

Biomedical

Neural flip-flops I: Short-term memory

The networks proposed here show how neurons can be connected to form flip-flops, the basic building blocks in sequential logic systems. The novel neural flip-flops (NFFs) are explicit, dynamic, and can generate known phenomena of short-term memory. For each network design, all neurons, connections, and types of synapses are shown explicitly. The neurons’ operation depends only on explicitly stat...
Posted 6 months ago

Social Science

Discovering why people believe disinformation about healthcare

Disinformation–false information intended to cause harm or for profit–is pervasive. While disinformation exists in several domains, one area with great potential for personal harm from disinformation is healthcare. The amount of disinformation about health issues on social media has grown dramatically over the past several years, particularly in response to the COVID-19 pandemic. The study des...
Posted 6 months ago

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