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Patients with Graves' orbitopathy often develop eyelid changes. These may be the result of a volume effect or a malposition. Both dermatochalasis with fat tissue increase and eyelid retraction may lead to functional or aesthetic impairment. The present article reviews indications, timing and principles for corrective eyelid surgery. If at all possible, surgical eyelid correction in Graves' orbitopathy should be performed once the disease became inactive and stabile. Surgical details of eyelid lengthening procedures for upper and lower eyelid retraction are presented. Meanwhile anterior blepharotomy became the primary procedure for upper eyelid lengthening. However, there is no such standard procedure for lower eyelid lengthening, although it is recommended to use a spacer. For blepharoplasty it is mandatory to distinguish between orbital fat prolapse and subbrow fat pad. A prolapse of the lacrimal gland should not be missed and generally, skin excision performed sparingly.
CRP-based scoring systems were found to correlate with survival in patients with urooncologic diseases. Our retrospective single-centre study aimed to confirm CRP as a prognostic parameter in patients with bladder cancer (BCa) undergoing radical cystectomy (RC) and, based on the findings, to develop our own outcome score for muscle-invasive bladder cancer (MIBC) patients undergoing RC in order to identify patients with a high risk of mortality.
A total of 254 patients who underwent RC at Hanover Medical School between 1996 and 2007 were reviewed with a follow-up until autumn 2013. The clinicopathologic parameters assessed included age, co-morbidities, pre-/postoperative serum levels of CRP, leukocytes, haemoglobin, creatinine, urinary diversion, tumour grading, staging, lymph node status, lymph node density (LND), lymphovascular invasion (LVI), metastases, and resection margin status. The Chi-square test was used for univariate analyses. Kaplan-Meier estimates and the log-rank test were used for survival analyses. Regarding outcome, overall survival (OS) was assessed.
The multivariate analysis excluding lymph node (LN)-positive and metastatic patients at time of RC showed a significant association of R status (R; p < 0.001), LVI (L; p = 0.021) and preoperative CRP level > 5 mg/l (C; p = 0.008) with OS. Based on these parameters, the RLC score was developed. The median OS in the intermediate, high-risk and very high-risk groups according to the RLC score was 62, 22, and 6.5 months, respectively. The score had a high predictive accuracy of 0.752.
The RLC score identifies BCa patients at a higher risk of overall mortality after RC. Overall, our study supports the role of CRP in prognostic score models for BCa.
The RLC score identifies BCa patients at a higher risk of overall mortality after RC. Overall, our study supports the role of CRP in prognostic score models for BCa.
A large body of evidence indicates the importance of upstream determinants to health. Universal Basic Income (UBI) has been suggested as an upstream intervention capable of promoting health by affecting material, biopsychosocial and behavioural determinants. Calls are emerging across the political spectrum to introduce an emergency UBI to address socioeconomic insecurity. However, although existing studies indicate effects on health through cash transfers, UBI schemes have not previously been designed specifically to promote health.
In this article, we scope the existing literature to set out a set of interdisciplinary research challenges to address in designing a trial of the effectiveness of UBI as a population health measure.
We present a theoretical model of impact that identifies three pathways to health impact, before identifying open questions related to regularity, size of payment, needs-based supplements, personality and behaviour, conditionality and duration.
These results set, for the first time, a set of research activities required in order to maximize health impact in UBI programmes.
These results set, for the first time, a set of research activities required in order to maximize health impact in UBI programmes.Although several high-resolution recombination maps exist for European-descent populations, the recombination landscape of African populations remains relatively understudied. Given that there is high genetic divergence among groups in Africa, it is possible that recombination hotspots also diverge significantly. Both limitations and opportunities exist for developing recombination maps for these populations. In this review, we discuss various recombination inference methods, and the strengths and weaknesses of these methods in analyzing recombination in African-descent populations. Furthermore, we provide a decision tree and recommendations for which inference method to use in various research contexts. Establishing an appropriate methodology for recombination rate inference in a particular study will improve the accuracy of various downstream analyses including but not limited to local ancestry inference, haplotype phasing, fine-mapping of GWAS loci and genome assemblies.In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist, which pathogenic relevance remains to be established. We attempted to determine the contribution of NEK1 gene in an Italian cohort of 531 sporadic and familial amyotrophic lateral sclerosis (ALS) patients applying massive parallel sequencing technologies. We filtered results of NEK1 gene and identified 20 NEK1 rare variants (MAF less then 0.01) in 22 patients. In particular, we found two novel frameshift variants (p.Glu929Asnfs*12 and p.Val1030Ilefs*23), 18 missense variants, including the p.Arg261His in three patients, and a novel variant in the start codon, the p.Met1?, which most likely impairs translation initiation. To clarify the role of NEK1 missense variants we investigated NEK1 expression in primary fibroblast cultures. Lificiguat HIF inhibitor We obtained skin biopsies from four patients with NEK1 variants and we assessed NEK1 expression by western blot and immunofluorescence.
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