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Although fresh frozen plasma (FFP) transfusions are common practice in neonatology, robust evidence on their use is lacking. The aim of this study was to systematically review the literature for data on the practice of FFP transfusions in neonates and their association with neonatal morbidity and mortality. The authors identified 40 studies, which met the inclusion criteria for this review. It was demonstrated that the practice of FFP transfusions significantly varies throughout the world. The majority of FFP transfusions are administered “prophylactically”, without evidence of active bleeding. Although FFP transfusions may restore coagulation tests results, they do not alter the clinical outcome of the neonates. Reactions following transfusions are probably underestimated in neonates, often undiagnosed and thus, underreported. High quality RCTs aiming to evaluate the effectiveness of FFP in specific clinical conditions are urgently needed, as they could change long-standing FFP transfusion practices, and help reduce neonatal morbidity and mortality. © 2022 Elsevier Ltd

• AIM: To evaluate the agreement of biomechanically corrected intraocular pressure (b-IOP) and central corneal thickness (CCT) measurements obtained with the updated Corvis ST tonometer versus Goldmann applanation tonometry (GAT) and optical-based corneal pachymetry (OB-CCT) in controls, patients with ocular hypertension (OHT) and primary open angle glaucoma (POAG). Additionally, we examined the differences in corneal deformation parameters provided by the updated Corvis ST among the three groups. • METHODS: For each participant, GAT IOP, OB-CCT and measurements with a Corvis ST with updated software were obtained. Bland-Altman analysis was used to assess the agreement between the two measurement methods. • RESULTS: A consecutive series of 80 eyes from 80 participants (30 with POAG, 25 with OHT and 25 normal controls) were included in this prospective study. The mean GAT IOP of all eyes was 17.2±3.6 mm Hg, and the mean b-IOP was 15.9±3.7 mm Hg (Spearman's rho=0.767, P

Introduction: Parkinson's disease is a neurodegenerative disorder with a complex etiology coming from interactions between genetic and environmental factors. Research on Parkinson's disease genetics has been an effortful struggle, while new technologies and novel study designs served as indispensable boosters. Until now, 90 loci and 20 disease-causing gene mutations have been identified. In this study we describe a novel non-parametric approach to GWAS meta-analysis and its application in PD genetics. Methods: A literature search was conducted to identify Genome-Wide Association Studies (GWAS) regarding Parkinson's disease. We applied predefined inclusion criteria and extracted the reported SNPs and their respective position and statistical significance. We divided all chromosomes in approximately equal genetic distance segments called bins and recorded the most significant SNP from each bin and each study and ranked them in terms of their p-value. Ranks from each bin were summed, averaged and added in a heterogeneity-based analysis using the METRADISC-XL software. Weighted and unweighted analysis was performed. Results: Five-hundred and forty-three SNPs and their respective p-values from 15 studies were matched in their corresponding bins. The METRADISC-XL analysis resulted in 7 bins with a significant p-value. A bin on chromosome 4 where the SNCA gene is located found with genome-wide significant association with Parkinson's Disease. Conclusion: This is the first time a non-parametric method is applied in GWAS meta-analysis. The results add some insight on the overall understanding of Parkinson's disease genetics and serve as a first step of further convergent analysis with Genome-wide linkage studies. © 2021

Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.

An association study was conducted to investigate the relation between 14 variants of glucose transporter 1 gene (SLC2A1) and the risk of type 2 diabetes (T2DM) leading to nephropathy. We also performed a meta-analysis of 11 studies investigating association between diabetic nephropathy (DN) and SLC2A1 variants. The cohort included 197 cases (T2DM with nephropathy), 155 diseased controls (T2DM without nephropathy) and 246 healthy controls. The association of variants with disease progression was tested using generalized odds ratio (ORG). The risk of type 2 diabetes leading to nephropathy was estimated by the OR of additive and co-dominant models. The mode of inheritance was assessed using the degree of dominance index (h-index). We synthesized results of 11 studies examining association between 5 SLC2A1 variants and DN. ORG was used to assess the association between variants and DN using random effects models. Significant results were derived for co-dominant model of rs12407920 [OR = 2.01 (1.17–3.45)], rs841847 [OR = 1.73 (1.17–2.56)] and rs841853 [OR = 1.74 (1.18–2.55)] and for additive model of rs3729548 [OR = 0.52 (0.29–0.90)]. The mode of inheritance for rs12407920, rs841847 and rs841853 was ‘dominance of each minor allele’ and for rs3729548 ‘non-dominance’. Frequency of one haplotype (C-G-G-A-T-C-C-T-G-T-C-C-A-G) differed significantly between cases and healthy controls [p = .014]. Regarding meta-analysis, rs841853 contributed to an increased risk of DN [(ORG = 1.43 (1.09–1.88) ORG = 1.58 (1.01–2.48)] between diseased controls versus cases and healthy controls versus cases, respectively. Further studies confirm the association of rs12407920, rs841847, rs841853, as well as rs3729548 and the risk of T2DM leading to nephropathy. 40 1 561 576

Aims: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have produced inconclusive or inconsistent results. In an effort to test consistency and provide more conclusive results, we applied a heterogeneity-based genome search meta-analysis (HEGESMA) to GWLS regarding DN. Materials and Methods: We combined results from eight GWLS in the primary analysis and nine GWLS for a conditional analysis about DN for both diabetes types, as well as in each type of diabetes and ethnicity in subgroup analyses. Results: HEGESMA identified cytogenetic locations that rank highly on average in terms of linkage statistics across multiple genome scans, taking into consideration the magnitude of heterogeneity of the results between scans. Main analyses: Our meta-analysis identified 13 cytogenetic locations (bins) with statistical significance (P rank ≤ 0.05), 11 of which were significant in both weighted and unweighted analyses located on chromosomes 1q, 3q, 4p, 5q, 7q, 15q, 16p, 17q, 19q, and 22p. In addition, four novel regions (5q11.2-5q14.3, 5q23.2-5q34, 17q24.3-17q25.3, and 22q12.3-22q13.3) were identified. Seven bins on chromosomes 4p, 5q, 7q, 15q, 22p, and 22q were common between both types of diabetes and in all subgroup analyses, in addition 5q14.3-5q23.2 was significant across all analyses. Conditional analyses: meta-analysis identified nine different cytogenetic locations, among which 7p22.3-7p15.3 was significant only in type 2 diabetes mellitus conditional analysis. Ethnicity subgroup analyses identified 11 different cytogenetic locations, 5 out of which are novel findings. However, none of the chromosomal regions reached genome-wide statistical significance (P rank < 0.00042). Discussion: This meta-analysis provides evidence for linkage for nine novel cytogenetic regions that should be further investigated for genes that confer susceptibility to DN. © 2019, Mary Ann Liebert, Inc.

Background Randomized controlled trials (RCTs) are the best tool to evaluate the effectiveness of clinical interventions. The CONSORT (Consolidated Standards of Reporting Trials) statement is an evidence-based approach to improve the quality of RCTs reporting. Objective To evaluate the reporting quality of published RCTs concerning multiple sclerosis from 2000 to 2015 according to a checklist based on the CONSORT statement. Methods Electronic databases were searched for English-language RCTs involving patients with multiple sclerosis (MS). Trials were considered eligible when participants were randomly assigned to at least two medicinal treatment arms and included patients with MS. Quality of reporting was assessed using a 39–item questionnaire based on the CONSORT checklist. Articles were grouped in three 5-year periods and comparisons were made using descriptive statistics. Results and conclusion The search identified 102 eligible articles for analysis. 20 of the 38 items of the checklist (52.6%) were addressed in 75% or more of the studies. Reporting of more than 75% of CONSORT items (>75% CONSORT compliance) was increased during the three five-year time periods from 2000 to 2015 (p

Three common polymorphic variants, namely Factor V Leiden (FVL), Prothrombin G20210A (PT G20210A) and Methylenetetrahydrofolate Reductase (MTHFR) C677T are candidate genes for venous thromboembolism (VTE) in pregnancy. We performed a literature review and meta-analysis of pertinent genetic association studies (GAS) in pregnancy, to quantify the genetic risk of VTE in pregnancy. We used the model-free approach of generalized odds ratio (OR G ) to estimate gene-to-disease association and explored the mode of inheritance using the degree of dominance h index. Twelve case-control GAS studies provided the full genotype distributions for at least one candidate gene to assess the genetic risk. FVL was associated with a significant risk of VTE in pregnancy (OR G 7.28; 95% confidence interval 5.53-9.58) and a dominant mode of inheritance (h = 0.76), that is the effect of heterozygous carriers will lie close to the homozygous mutant genotype. PT G20210A mutation was also associated with a significant VTE risk (OR G 5.43; 95% CI 3.66-8.03) and had an over-dominant mode of inheritance (h = 1.5), suggesting that the effect of heterozygous carriers may exceed that of homozygous mutant. MTHFR C677T had no association with VTE risk in pregnancy (OR G 1.24; 95% CI 0.88-1.73). Our analysis provided robust data on VTE in pregnancy, relative to FVL and PT G20210A status and suggested that the genetic effects of heterozygous over homozygous carriers do not justify stratification of heterozygous as "lower risk" over homozygous mutants. On clinical grounds this may impact decisions to preferentially exclude heterozygous from anticoagulation prophylaxis. © 2015 Elsevier Ireland Ltd. All rights reserved.

Background: To investigate and compare the impact of primary hip (THA) and knee (TKA) arthroplasty on quality of life in patients with osteoarthritis, to determine patients' satisfaction with total joint arthroplasty, and to detect the effect of patients' demographic and clinical characteristics on outcome. Methods: Three hundred seventy eight (378) patients with hip (174) and knee (204) osteoarthritis undergoing total joint arthroplasty (174 THA-204 TKA) were assessed pre- and post-operatively (6 weeks, 3, 6, and 12 months) using the Western Ontario and McMaster Osteoarthritis Index (WOMAC) and Centre for Epidemiological Studies Depression Scale (CES-D10). The patients' satisfaction with the results of total joint arthroplasty was also assessed. Differences were analyzed using general linear model for repeated measures. Results: The one-year response rate was 97 % for THA and 90 % for TKA. WOMAC and CES-D10 scores improved significantly after one year for both THA and TKA (P < 0.0001). The improvement in WOMAC total score was significantly greater for TKA patients (P < 0.0001 at 12 months). WOMAC pain and stiffness improved earlier for THA (6 weeks), while TKA had equivalent improvements at 3 and 6 months respectively. Both THA/TKA displayed significant improvement of WOMAC function at 3 months but TKA had greater improvement. Age, body mass index, residence, education and social support were not significant predictors of quality of life after total joint arthroplasty. One year postoperatively 88 % of patients were satisfied. Conclusions: WOMAC and CES-D10 improved significantly one year postoperatively. Although pain and stiffness improved earlier in THA, functional improvement was inferior in THA compared to TKA. © 2015 Dailiana et al.

Background: Non-Hodgkin's lymphoma (NHL) development in Sjögren's syndrome (SS) remains a potentially lethal complication and efforts should focus on the identification of predictors that could aid in appropriate therapeutic decisions. Methods: In order to identify potential prognostic factors for outcome in SS-associated NHL, we retrospectively analyzed a cohort of 77 patients, diagnosed with NHL according to WHO classification criteria and meeting the American-European Consensus Classification (AECC) criteria for SS and examined the effect of SS-activity (defined as the EULAR SS disease activity index-ESSDAI) in the prognosis of SS-related NHLs, as defined in terms of overall and event-free survivals (OS and EFS). An event was defined as lymphoma relapse, treatment failure, disease progression, histological transformation or death. The effect of NHL clinical and laboratory characteristics was also investigated. Results: MALT lymphomas constituted the majority (66.2%) of lymphomas. During the follow-up (median = 57.93 months), the 5-year OS was 90.91% (95% CI: 82.14-95.80%) and the EFS was 77.92% (95% CI: 67.37-85.82%). Patients with high ESSDAI score at lymphoma diagnosis had a greater risk for death (OR = 5.241, 95% CI: 1.034-26.568) or for event (OR = 4.317, 95% CI: 1.146-9.699, p = 0.008). These patients had also significantly worse EFS (HR = 4.541, 95% CI: 1.772 -11.637) and OS (HR = 5.946, 95% CI: 1.259-28.077). In addition, post-chemotherapy ESSDAI improvement was significantly lower in patients who had experienced an event (p = 0.005). An unfavorable International prognostic index (IPI) score (high-intermediate/high) was associated with high risk of death and event (OR = 13.867, 95% CI: 2.656-72.387 and OR = 12.589, 95% CI: 3.911-40.526, respectively), worse EFS (log-rank p

Multiple sclerosis (MS) results in an extensive use of the health care system, even within the first years of diagnosis. The effectiveness and accessibility of the health care system may affect patients' quality of life. The aim of the present study was to evaluate the health care resource use of MS patients under interferon beta-1b (EXTAVIA) treatment in Greece, the demographic or clinical factors that may affect this use and also patient satisfaction with the health care system. Structured interviews were conducted for data collection. In total, 204 patients (74.02% females, mean age (SD) 43.58 (11.42) years) were enrolled in the study. Analysis of the reported data revealed that during the previous year patients made extensive use of health services in particular neurologists (71.08% visited neurologists in public hospitals, 66.67% in private offices and 48.53% in insurance institutes) and physiotherapists. However, the majority of the patients (52.45%) chose as their treating doctor private practice neurologists, which may reflect accessibility barriers or low quality health services in the public health system. Patients seemed to be generally satisfied with the received health care, support and information on MS (84.81% were satisfied from the information provided to them). Patients' health status (as denoted by disease duration, disability status and hospitalization needs) and insurance institute were found to influence their visits to neurologists. Good adherence (up to 70.1%) to the study medication was reported. Patients' feedback on currently provided health services could direct these services towards the patients' expectations. © 2014 Hadjigeorgiou et al.

Objective To test the hypothesis that history of adenoidectomy and/or tonsillectomy (AT) in at least 1 of the parents during childhood, is a risk factor for moderate-to-severe obstructive sleep apnea (OSA) (apnea-hypopnea index [AHI] >5 episodes/hour) in the offspring with snoring. Study design Data of children with snoring who were referred for polysomnography over 12 years by primary care physicians were reviewed. Results Data of 798 children without history of prior AT, neuromuscular, or genetic disorders or craniofacial abnormalities were analyzed. Of these children, 69.3% had tonsillar hypertrophy, 25.8% were obese, 26.8% had at least 1 parent with history of AT, and 22.1% had AHI >5 episodes/hour. Parental history of AT was significantly associated with moderate-to-severe OSA (logit model including sex, tonsillar hypertrophy, obesity, and physician-diagnosed wheezing; OR [95% CI], 1.70 [1.18-2.46]; P 5 episodes/hour. Conclusions Among children with snoring who are referred for polysomnography by primary care physicians, those with tonsillar hypertrophy and parental history of AT have increased risk of moderate-to-severe OSA and represent 1 of the subgroups that should be prioritized for a sleep study in settings with limited resources. © 2014 Elsevier Inc. All rights reserved.