Gray platelet syndrome is an autosomal recessive platelet disorder characterized by macrothrombocytopenia and deficiency or decreased levels of alpha granules that confer a grayish appearance to the platelets. The genetic cause is located at chromosome locus 3p21, affecting the NBEAL2 gene.
Previous research has suggested that factor VIII (FVIII) can regulate the osteoprotegerin (OPG)/RANKL system, which appears to play a role in hemophilic arthropathy. Investigators have now aimed to measure the OPG levels in patients with hemophilia A/B and assess their correlation with the levels of FVIII/FIX.
Glanzmann thrombasthenia (GT) is a rare bleeding disorder caused by defects in the expression of platelet surface integrins, such as integrin alpha-IIb (GPIIb, encoded by ITGA2B).
Osteoarthritis (OA) is the most common joint disease and a leading cause of disability worldwide. Its treatment is still elusive due to difficulties with early diagnoses and patient risk identification. This leads to a need for reliable biomarkers for OA prognosis or to identify patients at risk of progression.
Cells that break away from a tumor and colonize other regions of the body express genes that are different from those of the cancer from which they originate. Now, a Baylor College of Medicine study has found that metastases can be classified into four cancer subtypes regardless of the primary cancer. This finding describes which genes are active in each one, making it possible to establish the most appropriate treatments for each patient according to the subtype of metastasis they have developed.
Androgen deprivation therapy (ADT) is still the main treatment option for locally advanced and metastatic prostate cancer (PCa); however, most patients receiving ADT develop resistance to treatment and relapse, with a more aggressive form of cancer, castration-resistant prostate cancer (CRPC).
Heart failure still remains a leading cause of death worldwide. Improving risk stratification and prognostic analysis tools is required to aid in the management of the disease.
Otosclerosis affects about 0.3% of population and it is among the most common cause of conductive hearing loss. Otosclerosis is highly familial, with positive family history reported in about 50% to 60% of cases. The disease is characterized by pathologic remodeling of the bone encasing the inner ear (otic capsule).
Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neuron disease, and it is pathologically related with frontotemporal dementia (FTD). Genetic studies have identified C9ORF72 as a major genetic cause of ALS/FTD. Further genetic analyses and validation studies have identified some other genes associated with ALS risk, highlighting among them the NUP50 gene, which encodes nuclear pore complex protein Nup50.
Outcomes after therapy with DNA-damaging agents such as irinotecan or oxaliplatin have been seen to improve in patients with homologous recombination-deficient colorectal cancer (HRD CRC) compared to those who have HR proficient CRC (HRP CRC).
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