Activity

Longevity is a complex process controlled by both environmental and genetic factors. We evaluated the association of four cytokine gene polymorphisms with longevity in an Italian cohort. A sample of 1019 subjects aged 10 to 100 and belonging to the North-Italian population was genotyped for IL-6 (G>C, rs1800796), IL-10-1082 (G>A, rs1800896), TNF-α-308 (G>A, rs1800629), and TGFβ1 codon 10 (T>C, rs1800471) gene polymorphisms. The association between cytokine gene polymorphisms and longevity was evaluated by dividing the sample into four age groups 10 to 24, 25 to 49, 50 to 85, and 86 to 100. We observed a significant decrease in the frequency of IL-10 A allele in the 25 to 49 (P = 1.1 × 10-3 ), 50 to 85 (P A) gene polymorphisms, with consequent increase in the duration of inflammation and cancer risk. For these reasons, it is plausible to observe low rates of these mutations in elderly subjects, as found in our study.Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina, lens, iris, or optic nerve tissue. With a prevalence of 2-19 per 100,000 live births, coloboma, and microphthalmia, an associated ocular disorder, represent up to 10% of childhood blindness. It manifests due to the failure of choroid fissure closure during eye development, and it is a part of a spectrum of ocular disorders that include microphthalmia and anophthalmia. Use of genetic approaches from classical pedigree analyses to next generation sequencing has identified more than 40 loci that are associated with the causality of ocular coloboma. As we have expanded studies to include singleton cases, hereditability has been very challenging to prove. As such, researchers over the past 20 years, have unraveled the complex interrelationship amongst these 40 genes using vertebrate model organisms. Such research has greatly increased our understanding of eye development. These genes function to regulate initial specification of the eye field, migration of retinal precursors, patterning of the retina, neural crest cell biology, and activity of head mesoderm. HC-7366 cost This review will discuss the discovery of loci using patient data, their investigations in animal models, and the recent advances stemming from animal models that shed new light in patient diagnosis.

To examine the relationship between disease activity and fatigue over time in early rheumatoid arthritis (RA).

Data were from patients with early RA (duration of symptoms ≤12 months) enrolled in the Canadian Early Arthritis Cohort (CATCH). Patients rated their fatigue over the past week using an 11-point numerical rating scale (NRS) for up to 5 years of follow-up. Fatigue severity was classified as low (≤2), moderate (>2 but <5), or high (≥5). Differences in fatigue ratings in patients who achieved a low disease state (Disease Activity Score in 28 joints [DAS28] <3.2) and those who did not within 3-months of cohort entry were compared.

Of 1,864 patients included, 88% met RA criteria, and 72% were women. The mean ± SD baseline DAS28 was 4.9 ± 1.5. Nineteen percent of the patients reported moderate baseline fatigue, and 59% reported severe baseline fatigue. Fatigue was correlated with pain and patient global ratings (r = 0.56-0.67, P < 0.001), and was weakly correlated with DAS28, tender joint count, swollen joint count, physician global assessment of disease activity, erythrocyte sedimentation rate, and C-reactive protein level. Patients who reported low fatigue by 3 months had significantly lower fatigue throughout follow-up compared to those who had moderate or high fatigue at 3 months (P < 0.001). Patients who achieved a DAS28 <3.2 within 3 months had significantly lower fatigue ratings (mean ± SD 2.7 ± 2.6) than those with a DAS28 >3.2 (4.6 ± 3.0) (P < 0.001), with improvements in fatigue that persisted through 5 years of follow-up. Maximal improvements in fatigue lagged behind remission by 6 months.

Fatigue is common in early RA, and improvements may occur after remission. Early treatment response within 3-months was associated with short-term and long-term benefits in fatigue over time.

Fatigue is common in early RA, and improvements may occur after remission. Early treatment response within 3-months was associated with short-term and long-term benefits in fatigue over time.

Access to public subspecialty healthcare is limited in underserved areas of Brazil, including echocardiography (echo). Long waiting lines and lack of a prioritisation system lead to diagnostic lag and may contribute to poor outcomes. We developed a prioritisation tool for use in primary care, aimed at improving resource utilisation, by predicting those at highest risk of having an abnormal echo, and thus in highest need of referral.

All patients in the existing primary care waiting list for echo were invited for participation and underwent a clinical questionnaire, simplified 7-view echo screening by non-physicians with handheld devices, and standard echo by experts. Two derivation models were developed, one including only clinical variables and a second including clinical variables and findings of major heart disease (HD) on echo screening (cut point for high/low-risk). For validation, patients were risk-classified according to the clinical score. High-risk patients and a sample of low-risk underwent sta to predict major HD.

The addition of screening echo to clinical variables significantly improves the performance of a score to predict major HD.

To compare the diagnostic performance between strain elastography and shear wave elastography (SWE) for the diagnosis of carpal tunnel syndrome (CTS).

Between July 2018 and June 2019, 66 consecutive patients with 95 imaged wrists underwent wrist ultrasound, including grayscale ultrasound, strain elastography, and SWE, because of the suspicion of CTS. During wrist ultrasound, the cross-sectional area (CSA), strain ratio, elasticity, and shear wave velocity of each median nerve were measured at the proximal carpal bone level (scaphoid to pisiform). The variables were compared between the normal and CTS groups by using the independent t test, and subgroup analyses were performed using one-way analysis of variance. Receiver operating characteristic (ROC) curves were used to evaluate the diagnostic performance of each variable.

CSA, elasticity, and shear wave velocity showed significant intergroup differences (P < 0.001, P < 0.001, and P = 0.002, respectively). However, the strain ratio showed no statistically significant intergroup difference (P = 0.