The latest medical research on Clinical Genetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical genetics gathered by our medical AI research bot.

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Phagocytosis in cellular defense and nutrition: a food-centered approach to the evolution of macrophages.

Cell and Tissue Research

The uptake of macromolecules and larger energy-rich particles into the cell is known as phagocytosis. Phagocytosed material is enzymatically degrad...

Applications and considerations for the use of genetically engineered mouse models in drug development.

Cell and Tissue Research

Considering high drug attrition rates in clinical studies and the overall complexity and challenging environment of drug development, it is increas...

Sertoli cell-conditioned medium restores spermatogenesis in azoospermic mouse testis.

Cell and Tissue Research

The current study evaluates potential applications of Sertoli cell (SC)-conditioned medium (CM) and explores the effects of the conditioned medium ...

No head regeneration here: regeneration capacity and stem cell dynamics of Theama mediterranea (Polycladida, Platyhelminthes).

Cell and Tissue Research

Research on the regeneration potential of flatworms (Platyhelminthes) has been mainly undertaken with planarians (Tricladida), where most species c...

The domestic pig as a model for the study of mitochondrial inheritance.

Cell and Tissue Research

Maternal mitochondrial inheritance is a fundamental paradigm within reproductive biology, yet the molecular mechanisms which underlie this process ...

HPV16+ -miRNAs in cervical cancer and miR-5701 plays an anti-tumor role in cervical cancer.

J Gene Med

The early diagnosis of cervical cancer is difficult, causing an unsatisfactory prognosis. The present study aimed to explore the expression of HPV16 related miRNAs in serum of Uygur cervical cancer in Sinkiang and analyze the miRNAs with different expression.

The serum of thirty HPV16 positive (HPV16Pos) and thirty negative patients (HPV16Neg) were collected, the differentially expressed miRNAs were screened out by function and pathway enrichment analyses. Furthermore, the cervical cancer cells were cultured. miR-5701-mimic and inhibitor were transfected in cells and the level of miR-5701were detected by RT-qPCR, the proliferation of cells was detected by CCK-8 assay. Western blot measured the expression of THBS4.

We identified three upregulated miRNAs (hsa-miR-1291, hsa-miR-144-5p and hsa-miR-5701) and the seven downregulated known-miRNAs (hsa-miR-21-5p, hsa-miR-101-3p, hsa-miR-370-3p, hsa-miR-151a-3p, hsa-miR-144-3p, hsa-miR-199a-3p and hsa-miR-199b-3p) relative to HPV16Neg. MAPK signal pathway is predicted to be a key mechanism of HPV16-related cervical cancer. Furthermore, miR-5701 inhibits the proliferation of cervical cancer cells and suppresses the expression of THBS4 (P < 0.05), which was confirmed as a target gene of miR-5701.

In the present study, we confirm ten differentially expressed miRNAs, which could be potential markers or therapeutic targets of cervical cancer. miR-5701 inhibits the proliferation of cervical cancer cells and the expression of its target gene THBS4.

Regional models of genetic services in the United States.

Genet Med

To outline structures for regional genetic services support centers that improve access to clinical genetic services.

A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system.

Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers. A hybrid model was recommended that included an active role for patients and families, national data development and collection, promotion of efficient and quality genetic clinical practices, healthcare professional support for nongeneticists, and technical assistance to healthcare professionals.

Given the challenges in improving access to genetic services, especially for underserved populations, regional models for genetic services support centers offer an opportunity to improve access to genetic services to local populations. Although a regional model can facilitate access, some systemic issues exist-e.g., distribution of a workforce trained in genetics-that regional genetic services support centers cannot resolve.

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.

Genet Med

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by pathogenic variants of the NF1 gene. A markedly increased risk of breast cancer is associated with NF1. We have determined the breast cancer survival and risk of contralateral breast cancer in NF1.

We included 142 women with NF1 and breast cancer from five cohorts in Europe and 335 women without NF1 screened for other familial breast cancers. Risk of contralateral breast cancer and death were assessed by Kaplan-Meier analysis with delayed entry.

One hundred forty-two women with NF1 were diagnosed for breast cancer at a median age of 46.9 years (range 27.0-84.3 years) and then followed up for 1235 person-years (mean = 8.70 years). Twelve women had contralateral breast cancer with a rate of 10.5 per 1000 years. Cumulative risk for contralateral breast cancer was 26.5% in 20 years. Five and 10-year all-cause survival was 64.9% (95% confidence interval [CI] = 54.8-76.8) and 49.8% (95%CI = 39.3-63.0). Breast cancer-specific 10-year survival was 64.2% (95% CI = 53.5-77.0%) compared with 91.2% (95% CI = 87.3-95.2%) in the non-NF1 age-matched population at increased risk of breast cancer.

Women with NF1 have a substantial contralateral breast cancer incidence and poor survival. Early start of breast cancer screening may be a way to improve the survival.

Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS).

Genet Med

Exome sequencing (ES) has the potential to improve management of congenital anomalies and neurodevelopmental disorders in fetuses, infants, and children. US payers are key stakeholders in patient access to ES. We examined how payers view insurance coverage and clinical utility of pediatric and prenatal ES.

We employed the framework approach of qualitative research to conduct this study. The study cohort represented 14 payers collectively covering 170,000,000 enrollees.

Seventy-one percent of payers covered pediatric ES despite perceived insufficient evidence because they saw merit in available interventions or in ending the diagnostic odyssey. None covered prenatal ES, because they saw no merit. For pediatric ES, 50% agreed with expanded aspects of clinical utility (e.g., information utility), and 21% considered them sufficient for coverage. For prenatal ES, payers saw little utility until in utero interventions become available.

The perceived merit of ES is becoming a factor in payers' coverage for serious diseases with available interventions, even when evidence is perceived insufficient. Payers' views on ES's clinical utility are expanding to include informational utility, aligning with the views of patients and other stakeholders. Our findings inform clinical research, patient advocacy, and policy-making, allowing them to be more relevant to payers.

Creating genetic reports that are understood by nonspecialists: a case study.

Genet Med

Guidelines recommend that genetic reports should be clear to nonspecialists, including patients. We investigated the feasibility of creating reports for cystic fibrosis carrier testing through a rapid user-centered design process that built on a previously developed generic template. We evaluated the new reports' communication efficacy and effects on comprehension against comparable reports used in current clinical practice.

Thirty participants took part in three rounds of interviews. Usability problems were identified and rectified in each round. One hundred ninety-three participants took part in an evaluation of the resulting reports measuring subjective comprehension, risk probability comprehension, perceived communication efficacy, and other factors, as compared with standard reports.

Participants viewing the user-centered reports rated them as clearer, easier to understand, and more effective at communicating key information than standard reports. Both groups ended up with equivalent knowledge of risk probabilities, although we observed differences in how those probabilities were perceived.

Our findings demonstrate that by starting with a patient-friendly generic report template and modifying it for specific scenarios with a rapid user-centered design process, reports can be produced that are more effective at communicating key information. The resulting reports are now being implemented into clinical care.

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease.

Neurogenetics

G2019S in LRRK2 is the most common mutation associated with Parkinson's disease (PD). Highest frequencies are in North African Arabic (30-41%) and ...

Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system.

Neurogenetics

The N-Myc downstream-regulated gene (NDRG) family consists of four members (NDRG1, NDRG2, NDRG3, NDRG4) that are differentially expressed in variou...