97 research outputs found
Rekurrens európai misszensz mutáció egy magyar Papillon-Lefévre szindrómában szenvedő családban
Menthol can be safely applied to improve thermal perception during physical exercise : a meta-analysis of randomized controlled trials
Menthol is often used as a cold-mimicking substance to allegedly enhance performance during physical activity, however menthol-induced activation of cold-defence responses during exercise can intensify heat accumulation in the body. This meta-analysis aimed at studying the effects of menthol on thermal perception and thermophysiological homeostasis during exercise. PubMed, EMBASE, Cochrane Library, and Google Scholar databases were searched until May 2020. Menthol caused cooler thermal sensation by weighted mean difference (WMD) of - 1.65 (95% CI, - 2.96 to - 0.33) and tended to improve thermal comfort (WMD = 1.42; 95% CI, - 0.13 to 2.96) during physical exercise. However, there was no meaningful difference in sweat production (WMD = - 24.10 ml; 95% CI, - 139.59 to 91.39 ml), deep body temperature (WMD = 0.02 °C; 95% CI, - 0.11 to 0.15 °C), and heart rate (WMD = 2.67 bpm; 95% CI - 0.74 to 6.09 bpm) between the treatment groups. Menthol improved the performance time in certain subgroups, which are discussed. Our findings suggest that different factors, viz., external application, warmer environment, and higher body mass index can improve menthol's effects on endurance performance, however menthol does not compromise warmth-defence responses during exercise, thus it can be safely applied by athletes from the thermoregulation point of view
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood. To date, this somatic mutation has been reported in eight patients affected by different forms of segmental overgrowth syndromes. Detailed analysis of the Hungarian child and previously reported cases suggests high phenotypic diversity associated with the p.Glu542Lys somatic mutation. The identification of the mutation provides a novel therapeutic modality for the affected patients: those who carry somatic mutations in the PIK3CA gene are potential recipients of a novel "repurposing" approach of rapamycin treatment.This research was supported by the European Union and the State of Hungary, co-financed by the European Social Fund in the framework of TÁMOP-4.2.4.A/ 2-11/1-2012-0001 “National Excellence Program.” Nikoletta Nagy was also supported by the Hungarian Scientific Research Fund (OTKA) PD104782 grant.This is the author accepted manuscript. The final version is available from Elsevier via http://dx.doi.org/10.1016/j.ejmg.2016.02.00
Janus Kinase Inhibitors Improve Disease Activity and Patient-Reported Outcomes in Rheumatoid Arthritis: A Systematic Review and Meta-Analysis of 24,135 Patients
Pain, fatigue, and physical activity are major determinants of life quality in rheumatoid arthritis (RA). Janus kinase (JAK) inhibitors have emerged as effective medications in RA and have been reported to exert direct analgesic effect in addition to reducing joint inflammation. This analysis aims to give an extensive summary of JAK inhibitors especially focusing on pain and patient reported outcomes (PRO). MEDLINE, CENTRAL, Embase, Scopus, and Web of Science databases were searched on the 26 October 2020, and 50 randomized controlled trials including 24,135 adult patients with active RA met the inclusion criteria. JAK inhibitors yielded significantly better results in all 36 outcomes compared to placebo. JAK monotherapy proved to be more effective than methotrexate in 9 out of 11 efficacy outcomes. In comparison to biological disease-modifying antirheumatic drugs, JAK inhibitors show statistical superiority in 13 of the 19 efficacy outcomes. Analgesic effect determined using the visual analogue scale and American College of Rheumatology (ACR) 20/50/70 response rates was significantly greater in the JAK group in all comparisons, and no significant difference regarding safety could be explored. This meta-analysis gives a comprehensive overview of JAK inhibitors and provides evidence for their superiority in improving PROs and disease activity indices in RA
The risk of postoperative respiratory complications following adenotonsillar surgery in children with or without obstructive sleep apnea: A systematic review and meta-analysis
Obstructive sleep apnoea (OSA) appears in 2-5% of children, with first-line treatment being adenotonsillar (AT) surgery. Our aim was to examine the risk of postoperative respiratory complications (PoRCs) in non-OSA and the different OSA severity (mild, moderate, severe) groups.We conducted a systematic review and meta-analysis of studies comparing PoRCs following AT surgery in children with and without OSA.19 observational studies were identified with the same search key used in MEDLINE, Embase and CENTRAL. The connection between PoRCs, the presence and severity of OSA, and additional comorbidities were examined. Odds ratios (OR) were calculated with 95% confidence intervals (CI).We found that PoRCs appeared more frequently in moderate (p=0.048, OR: 1.79, CI (1.004, 3.194)) and severe OSA (p=0.002, OR: 4.06, CI (1.68, 9.81)) compared to non-OSA patients. No significant difference was detected in the appearance of major complications (p=0.200, OR: 2.14, CI (0.67, 6.86)) comparing OSA and non-OSA populations. No significant difference was observed in comorbidities (p=0.669, OR: 1.29, CI (0.40, 4.14)) or in the distribution of PoRCs (p=0.904, OR: 0.94, CI (0.36, 2.45)) between the two groups.Uniform guidelines and a revision of postoperative monitoring are called for, since children with moderate and severe OSA are more likely to develop PoRCs following AT surgery based on our results, but no significant difference was found in mild OSA. Furthermore, the presence of OSA only is not associated with an increased risk of developing major complications. This article is protected by copyright. All rights reserved
A Moyers-féle vegyes fogazati analízis alkalmazhatóságának vizsgálata a magyarországi lakosság körében = Applicability of the Moyers mixed dentition analysis for the Hungarian population
Absztrakt:
Bevezetés: A Moyers-féle vegyes fogazati analízis az egyik
leggyakrabban használt predikciós módszer, melynek segítségével meghatározhatjuk
az elő nem tört fogak méretét, így még vegyes fogazati időszakban
informálódhatunk a helyviszonyokról. Mivel azonban a fogméretek az egyes etnikai
csoportok közt jelentősen eltérhetnek, ahhoz, hogy a helyhiány súlyosságát a
lehető legpontosabban tudjuk meghatározni, külön a vizsgált egyén saját etnikai
csoportjára vonatkoztatott módszert lenne optimális alkalmazni.
Célkitűzés: Célunk, hogy megvizsgáljuk, a Moyers-féle
vegyes fogazati analízis mennyire pontosan használható Magyarországon.
Módszer: 370 páciens alginátlenyomat alapján készült alsó
és felső gipszmintája került kiértékelésre. Pittsburgh digitális tolómérő
segítségével határoztuk meg az egyes fogak mesiodistalis szélességét. A kapott
értékekből számoltuk ki egyrészt a fogak valós, másrészt a Moyers-féle
predikciós táblázat segítségével a várható helyigényét, majd a két értéket
összevetettük. Eredmények: Moyers-féle analízist használva
minden viszonylatban, mindkét nem esetén szignifikáns különbséget találtunk az
általunk mért valós és prediktív értékek között. A felső állcsonton férfiak
esetében a 95%-os, 85%-os, 75%-os és 65%-os percentilisértékek is túlbecsülték
az általunk mért értékeket, míg nők esetében csak a 65%-os becsülte alá azt. Az
alsó állcsont esetén mindegyik percentilisérték túlbecsülte a valós mérések
eredményeit. Következtetések: Eredményeink alapján a
Moyers-féle vegyes fogazati predikciós módszer nem alkalmazható megbízhatóan a
magyar lakosságnál. Amennyiben használjuk, javasolt a klinikumban elterjedt 75%
percentilisérték helyett inkább a 65%-os adat alkalmazása, mivel ezzel a valós
helyigényhez közelebbi eredményt kaphatunk. Orv Hetil. 2019; 160(50): 1984–1989.
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Abstract:
Introduction: Moyers mixed dentition analysis is one of the most
commonly used prediction methods to estimate the size of the unerupted teeth. By
its use, we can determine the severity of tooth size-arch length discrepancies
in mixed dentition. Since the tooth size may vary considerably among different
ethnic groups, for the most precise estimation of the required space, an
analysis based on the individual’s own ethnic group would be recommended.
Aim: Our aim was to evaluate the applicability of Moyers
mixed dentition analysis for the Hungarian population. Method:
Upper and lower study casts of 370 patients were evaluated. The mesiodistal
widths of the teeth were measured by using a Pittsburgh digital caliper. The
odontometric values obtained were used to calculate actual and predicted values.
The actual teeth measurements were then statistically compared to the predicted
values derived from Moyers probability tables. Results: Using
Moyers analysis, we found significant differences at each percentile between the
actual and predictive values in both sexes. In the upper jaw, values for men at
the 95th, 85th, 75th, and 65th percentile overestimated the actual values, while
for women only the 65th percentile underestimated it. In the lower jaw, all
values were overestimated in relation to the actual measurements at all
percentiles. Conclusions: Based on our results, Moyers mixed
dentition analysis cannot be reliably applied for the Hungarian population. If
used, it is recommended to use the Moyers predicted values at the 65th instead
of the 75th percentile, as this will result in closer estimation to the actual
space requirements. Orv Hetil. 2019; 160(50): 1984–1989
Network meta-analysis of randomized controlled trials on esophagectomies in esophageal cancer : The superiority of minimally invasive surgery
Previous meta-analyses, with many limitations, have described the beneficial nature of minimal invasive procedures.To compare all modalities of esophagectomies to each other from the results of randomized controlled trials (RCTs) in a network meta-analysis (NMA).We conducted a systematic search of the MEDLINE, EMBASE, Reference Citation Analysis (https://www.referencecitationanalysis.com/) and CENTRAL databases to identify RCTs according to the following population, intervention, control, outcome (commonly known as PICO): P: Patients with resectable esophageal cancer; I/C: Transthoracic, transhiatal, minimally invasive (thoracolaparoscopic), hybrid, and robot-assisted esophagectomy; O: Survival, total adverse events, adverse events in subgroups, length of hospital stay, and blood loss. We used the Bayesian approach and the random effects model. We presented the geometry of the network, results with probabilistic statements, estimated intervention effects and their 95% confidence interval (CI), and the surface under the cumulative ranking curve to rank the interventions.We included 11 studies in our analysis. We found a significant difference in postoperative pulmonary infection, which favored the minimally invasive intervention compared to transthoracic surgery (risk ratio 0.49; 95%CI: 0.23 to 0.99). The operation time was significantly shorter for the transhiatal approach compared to transthoracic surgery (mean difference -85 min; 95%CI: -150 to -29), hybrid intervention (mean difference -98 min; 95%CI: -190 to -9.4), minimally invasive technique (mean difference -130 min; 95%CI: -210 to -50), and robot-assisted esophagectomy (mean difference -150 min; 95%CI: -240 to -53). Other comparisons did not yield significant differences.Based on our results, the implication of minimally invasive esophagectomy should be favored
Preoperative Serum Carbohydrate Antigen 19-9 Levels Cannot Predict the Surgical Resectability of Pancreatic Cancer : A Meta-Analysis
Background and Aims: Pancreatic ductal adenocarcinoma has one of the worst prognosis of all malignancies. This investigated the relationship between the preoperative serum carbohydrate antigen 19-9 and surgical resectability. Methods: A systematic search was performed in three databases (MEDLINE, EMBASE, and Web of Science) to compare the surgical resectability of pancreatic ductal adenocarcinoma in patients with high and low preoperative serum carbohydrate antigen 19-9 values. The receiving operating characteristic curves were constructed and the weighted mean differences for preoperative serum carbohydrate antigen 19-9 levels of resectable and unresectable groups of patients were calculated. The PROSPERO registration number is CRD42019132522. Results: Results showed that there was a significant difference in resectability between the low and high carbohydrate antigen 19-9 groups. Six out of the eight studies utilised receiver operating characteristic curves in order to find the cut-off preoperative carbohydrate antigen 19-9 levels marking unresectability. The overall result from the pooled area under curve values from the receiver operating characteristic curves was 0.794 (CI: 0.694-0.893), showing that the preoperative carbohydrate antigen 19-9 level is a "fair" marker of resectability. The result of the pooled weighted mean differences was 964 U/ml (p < 0.001) showing that there is a significant carbohydrate antigen 19-9 difference between the resectable and unresectable groups. Based on the results of the I-squared test, the result was 87.4%, accounting for "considerable" heterogeneity within the population. Conclusion: Carbohydrate antigen 19-9 is not a reliable marker of unresectability, it should not be used on its own in surgical decision-making
Assessment of clinical data on urocortins and their therapeutic potential in cardiovascular diseases: A systematic review and meta‐analysis
Delineating the genetic heterogeneity of OCA in Hungarian patients
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7). METHODS: The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13). Mutation screening and polymorphism analysis were performed by direct sequencing on TYR, OCA2, SLC45A2 genes. RESULTS: Although the clinical features of the investigated Hungarian OCA patients were identical, the molecular genetic data suggested OCA1 subtype in eight cases and OCA4 subtype in two cases. The molecular diagnosis was not clearly identifiable in three cases. In four patients, two different heterozygous known pathogenic or predicted to be pathogenic mutations were present. Seven patients had only one pathogenic mutation, which was associated with non-pathogenic variants in six cases. In two patients no pathogenic mutation was identified. CONCLUSIONS: Our results suggest that the concomitant screening of the non-pathogenic variants-which alone do not cause the development of OCA, but might have clinical significance in association with a pathogenic variant-is important. Our results also show significant variation in the disease spectrum compared to other populations. These data also confirm that the concomitant analysis of OCA genes is critical, providing new insights to the phenotypic diversity of OCA and expanding the mutation spectrum of OCA genes in Hungarian patients
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