Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.

Factors associated with statural growth in pediatric kidney transplant recipients with focus on metabolic acidosis.

Background: We investigated factors associated with post-transplant growth in pediatric kidney transplant (KTx) recipients with a focus on plasma bicarbonate (HCO3) and estimated the effect of alkali treatment on growth.

Methods: In this study of the CERTAIN Registry, data were collected up to 5 years post-transplant. Generalized Additive Mixed Models were applied to assess the association between post-transplant growth and covariates.

Explaining the Correlates of the Multi-Theory Model (MTM) of Health Behavior Change in Visual (Structural) Colorectal Cancer Screening Examinations.

Colorectal cancer (CRC) ranks third in terms of global cancer prevalence and is the second most common cause of cancer-related mortality. Although CRC rates are decreasing in the United States, inequalities still exist despite the effectiveness of invasive screening methods, such as colonoscopy, flexible sigmoidoscopy, and computed tomography (CT) colonography in detecting colorectal cancer. Many current interventions promoting CRC screening do not utilize a modern theory-based approach, which has led to the low utilization of these screening methods.

Ubiquitination Enzymes in Cancer, Cancer Immune Evasion, and Potential Therapeutic Opportunities.

Ubiquitination is cells' second most abundant posttranslational protein modification after phosphorylation. The ubiquitin-proteasome system (UPS) is critical in maintaining essential life processes such as cell cycle control, DNA damage repair, and apoptosis. Mutations in ubiquitination pathway genes are strongly linked to the development and spread of multiple cancers since several of the UPS family members possess oncogenic or tumor suppressor activities.

Assessing the supportive care needs of parents of children with rare diseases in Ireland.

Purpose: Rare diseases are individually uncommon yet collectively prevalent. They affect over 300,000 people in Ireland, with 50-70 % impacting children. This study explores the supportive care needs of parents caring for children with rare diseases in Ireland, utilising a validated Parental Needs Scale for Rare Diseases (PNS-RD).