Tag: statistics

J Assist Reprod Genet. 2022 Aug 4. doi: 10.1007/s10815-022-02563-4. Online ahead of print.

ABSTRACT

PURPOSE: To compare ovarian response and the number of transferable embryos between women with balanced autosomal translocations and women whose partners carry the translocation (control group). To investigate the predictive value of metaphase II (MII) oocyte number and biopsied embryo number for gaining at lowest one transferable embryo.

DESIGN: We retrospectively analyzed 1942 preimplantation genetic testing for structural rearrangements (PGT-SR) cycles of 1505 balanced autosomal translocation couples over 8 years. All cycles were divided into two subgroups: Robertsonian and reciprocal translocations (ROBT and ReBT). Receiver operator characteristic (ROC) curves were plotted to ascertain a cutoff of MII oocytes and biopsied embryos as predictors of gaining at lowest one transferable embryo.

RESULT: There were no statistical differences in baseline features or ovarian response indicators regarding the number of retrieved/MII oocytes, E2 level on the day of HCG, and ovarian sensitivity index (OSI) between women with balanced autosomal translocations and control group (P > 0.05). A decreased number of transferable embryos were found in women with balanced autosomal translocations regardless of the type of translocation. The cutoff values for gaining at lowest one transferable embryo are 12.5 MII oocytes and 4.5 biopsied embryos, respectively.

CONCLUSION: Women with balanced autosomal translocations have a normal ovarian response, but fewer transferable embryos, meaning that higher gonadotropin (Gn) doses may be required to increase transferable embryos. When fewer than 12.5 MII oocytes or 4.5 blastocysts are obtained in a PGT-SR cycle, couples should be notified that the likelihood of gaining a transferable embryo is low.

PMID:35925537 | DOI:10.1007/s10815-022-02563-4

J Neurooncol. 2022 Aug 4. doi: 10.1007/s11060-022-04104-6. Online ahead of print.

ABSTRACT

PURPOSE: Neurofibromatosis (NF) is an incurable genetic neurological condition. Psychosocial interventions that promote resiliency are a promising approach to address the high emotional distress and low quality of life (QoL) associated with NF. However, no studies have examined the psychosocial needs of treatment-seeking adults with NF. Our goal was to explore, using data from the largest efficacy trial of a psychosocial intervention for NF, differences in QoL, emotional distress, resiliency, and pain-related outcomes compared to other chronic medical populations and within subtypes (NF1, NF2, schwannomatosis; SCHW).

METHODS: Enrolled participants (N = 228) were geographically diverse adults with NF and elevated stress. We performed secondary analysis on baseline measures of QoL, emotional distress, resiliency, and pain-related outcomes. We reported descriptive statistics and normative comparisons to understand the psychosocial characteristics of the overall sample and performed between-group analyses to explore differences within NF type.

RESULTS: Our sample endorsed worse QoL, emotional distress, resilience, and pain-related outcomes than similar chronic illness populations. Within NF types, participants with NF1 reported lower QoL and resilience compared to those with NF2. Participants with SCHW reported higher pain intensity than those with NF1. Participants with SCHW reported higher pain interference and lower physical QoL compared to those with NF1 and NF2.

CONCLUSIONS: Our findings support the urgent need for psychosocial interventions targeting deficits in QoL, emotional distress, resilience, and pain-related outcomes in adults with NF. We recommend efforts to enhance sample diversity, prepare clinicians to provide high-levels of support, and attune skills training to each NF type.

TRIAL REGISTRATION: ClinicalTrials.gov NCT03406208; https://clinicaltrials.gov/ct2/show/NCT03406208 (Archived by WebCite at http://www.webcitation.org/72ZoTDQ6h ).

PMID:35925531 | DOI:10.1007/s11060-022-04104-6

Cell Mol Life Sci. 2022 Aug 4;79(8):464. doi: 10.1007/s00018-022-04491-z.

ABSTRACT

Classical HLA (Human Leukocyte Antigen) is the Major Histocompatibility Complex (MHC) in man. HLA genes and disease association has been studied at least since 1967 and no firm pathogenic mechanisms have been established yet. HLA-G immune modulation gene (and also -E and -F) are starting the same arduous way: statistics and allele association are the trending subjects with the same few results obtained by HLA classical genes, i.e., no pathogenesis may be discovered after many years of a great amount of researchers’ effort. Thus, we believe that it is necessary to follow different research methodologies: (1) to approach this problem, based on how evolution has worked maintaining together a cluster of immune-related genes (the MHC) in a relatively short chromosome area since amniotes to human at least, i.e., immune regulatory genes (MHC-G, -E and -F), adaptive immune classical class I and II genes, non-adaptive immune genes like (C2, C4 and Bf) (2); in addition to using new in vitro models which explain pathogenetics of HLA and disease associations. In fact, this evolution may be quite reliably studied during about 40 million years by analyzing the evolution of MHC-G, -E, -F, and their receptors (KIR-killer-cell immunoglobulin-like receptor, NKG2-natural killer group 2-, or TCR-T-cell receptor-among others) in the primate evolutionary lineage, where orthology of these molecules is apparently established, although cladistic studies show that MHC-G and MHC-B genes are the ancestral class I genes, and that New World apes MHC-G is paralogous and not orthologous to all other apes and man MHC-G genes. In the present review, we outline past and possible future research topics: co-evolution of adaptive MHC classical (class I and II), non-adaptive (i.e., complement) and modulation (i.e., non-classical class I) immune genes may imply that the study of full or part of MHC haplotypes involving several loci/alleles instead of single alleles is important for uncovering HLA and disease pathogenesis. It would mainly apply to starting research on HLA-G extended haplotypes and disease association and not only using single HLA-G genetic markers.

PMID:35925520 | DOI:10.1007/s00018-022-04491-z

Neurol Sci. 2022 Aug 4. doi: 10.1007/s10072-022-06309-z. Online ahead of print.

ABSTRACT

Insomnia affects one-third of the adult population and is associated with multiple medical conditions. We conducted an observational epidemiological survey to assess (1) the prevalence of insomnia in an Italian group of patients aged over 50 years, presenting directly to the general physician (GP); (2) the association of insomnia with sleepiness and comorbidities; and (3) the pharmacological treatment. The study was carried out by GPs. Each GP was asked to enroll the first patient over 50 years old spontaneously presenting for any medical problems for 5 consecutive days. The Italian version of the Sleep Condition Indicator (SCI) was administered; daytime sleepiness was evaluated by a visual analogic scale (VAS). For every patient, GPs collected information regarding comorbidities and pharmacological treatment for insomnia and evaluated the severity of insomnia using the Clinical Global Impression Severity (CGI-S) scale. A total of 748 patients (mean age 65.12 ± 9.45 years) were enrolled by 149 GPs. Prevalence of insomnia was 55.3%. SCI, VAS, and CGI-S scores were highly correlated between each other (p < 0.0001). At general linear model analysis, the comorbidities more associated with the presence of insomnia were anxiety-depressive disorder (p < 0.001), other psychiatric disorders (p = 0.017), cardiovascular disorders (p = 0.006), and dementia (p = 0.027). A statistically significant correlation was found between SCI score and the use of benzodiazepines (p < 0.001), z-drugs (p = 0.012), antidepressants (p < 0.001), and melatonin-prolonged release (p < 0.001). Insomnia affects half of Italian primary care patients over 50 years and is frequently associated with different medical conditions, sleepiness, and use of multiple-often off-label-drugs.

PMID:35925456 | DOI:10.1007/s10072-022-06309-z

Breast Cancer Res Treat. 2022 Aug 4. doi: 10.1007/s10549-022-06675-4. Online ahead of print.

ABSTRACT

PURPOSE: To evaluate the association between lifetime personal cigarette smoking and young-onset breast cancer (YOBC; diagnosed <50 years of age) risk overall and by breast cancer (BC) subtype, and whether risk varies by race or socioeconomic position (SEP).

METHODS: Data are from the Young Women’s Health History Study (YWHHS), a population-based case-control study of non-Hispanic Black (NHB) and White (NHW) women, ages 20-49 years (n = 1812 cases, n = 1381 controls) in the Los Angeles County and Metropolitan Detroit Surveillance, Epidemiology, and End Results (SEER) registry areas, 2010-2015. Lifetime personal cigarette smoking characteristics and YOBC risk by subtype were examined using sample-weighted, multivariable-adjusted polytomous logistic regression.

RESULTS: YOBC risk associated with ever versus never smoking differed by subtype (P_{heterogeneity} = 0.01) with risk significantly increased for Luminal A (adjusted odds ratio [aOR] 1.34; 95% confidence interval [CI] 1.06-1.68) and HER2-type (aOR 1.97; 95% CI 1.23-3.16), and no association with Luminal B or Triple Negative subtypes. Additionally, ≥30 years since smoking initiation (versus never) was statistically significantly associated with an increased risk of Luminal A (aOR 1.55; 95% CI 1.07-2.26) and HER2-type YOBC (aOR 2.77; 95% CI 1.32-5.79), but not other subtypes. In addition, among parous women, smoking initiated before first full-term pregnancy (versus never) was significantly associated with an increased risk of Luminal A YOBC (aOR 1.45; 95% CI 1.11-1.89). We observed little evidence for interactions by race and SEP.

CONCLUSION: Findings confirm prior reports of a positive association between cigarette smoking and Luminal A YOBC and identify a novel association between smoking and HER2-type YOBC.

PMID:35925453 | DOI:10.1007/s10549-022-06675-4

Eur J Nutr. 2022 Aug 4. doi: 10.1007/s00394-022-02970-4. Online ahead of print.

ABSTRACT

BACKGROUND: Both the nutritional quality of the foods consumed (as nutrient composition) and their ultra-processed nature have been linked to health risks. However, the respective contribution of each of these correlated dimensions or their synergy to the overall diet quality has been rarely explored.

OBJECTIVE: To identify the respective effects of the nutritional quality of the foods consumed, the ultra-processed nature of foods and their cross-effect contributing to the overall quality of the diet.

DESIGN: Cross-sectional observational study.

SETTING: Web-based French NutriNet-Santé cohort study.

PARTICIPANTS: Participants in the NutriNet-Santé cohort study with at least three available 24 h records as baseline dietary data (N = 98 454 participants).

MAIN OUTCOME MEASURES: The overall quality of the diet (qualified using the adherence to the 2017 French national nutrition and health dietary recommendations dietary score PNNS-GS2) was broken down into: (1) an effect of the nutritional quality of the foods consumed (qualified using the modified Foods Standards Agency nutrient profile model (underlying the Nutri-Score) dietary index FSAm-NPS DI); (2) an effect of the ultra-processed nature of the foods consumed (qualified using the proportion of ultra-processed foods consumed UPFp using the NOVA classification), and (3) a cross-effect of both dimensions.

RESULTS: The overall effect from the ‘nutritional quality of the foods consumed’ (FSAm-NPS DI) was 1.10, corresponding to 26% of the total effect; the overall effect from ultra-processed foods consumption was 1.29, corresponding to 30% of the total effect; and cross-effect between nutritional quality of the foods consumed and ultra-processing was at 1.91, corresponding to 44% of total effects.

CONCLUSIONS: Our study provides support to the postulate that nutritional quality and ultra-processing should be considered as two correlated but distinct and complementary dimensions of the diet.

PMID:35925444 | DOI:10.1007/s00394-022-02970-4

Neuroradiology. 2022 Aug 4. doi: 10.1007/s00234-022-03026-4. Online ahead of print.

ABSTRACT

PURPOSE: To evaluate the feasibility of using CT perfusion (CTP) with increased temporal sampling interval to predict the target mismatch status in acute ischemic stroke (AIS) patients with anterior circular large-vessel occlusion (LVO).

METHODS: CTP with a sampling interval of 1.7 s (CTP_{1.7 s}) was scanned in 77 AIS patients for pre-treatment evaluation. Simulated CTP data with sampling interval of 3.4 s (CTP_{3.4 s}) or 5.1 s (CTP_{5.1 s}) were reconstructed, respectively. Target mismatch was defined according to the EXTEND-IA (Extending the Time for Thrombolysis in Emergency Neurological Deficits-Intra-Arterial) and DEFUSE 3 (Endovascular Therapy Following Imaging Evaluation for Ischemic Stroke) trial criteria, respectively. Pearson correlation analysis, Mann-Whitney U test, Bland-Altman analysis, and chi-square test were used for statistical analysis as appropriate.

RESULTS: Significant correlations were found on the volume of ischemic core, hypo-perfused area, mismatch area, and ratio between CTP_{1.7 s} and CTP_{3.4 s} or CTP_{5.1 s} (all p < 0.001). There was no significant difference on the volume of ischemic core, hypo-perfused area, mismatch area, and mismatch ratio between CTP_{1.7 s} and CTP_{3.4 s} or CTP_{5.1 s} (all p > 0.05). Compared with CTP_{1.7 s}, CTP_{3.4 s} or CTP_{5.1 s} showed comparable performance in predicting the target mismatch status in the AIS patients with LVO (both p > 0.05).

CONCLUSIONS: CTPs with increased temporal sampling intervals that lead to reduced radiation doses are feasible and may provide comparable performance in predicting target mismatch status in AIS patients with LVO.

PMID:35925438 | DOI:10.1007/s00234-022-03026-4

Acta Neurochir (Wien). 2022 Aug 4. doi: 10.1007/s00701-022-05322-7. Online ahead of print.

ABSTRACT

PURPOSE: In this study, we wished to compare statistically the novel SORG algorithm in predicting survival in spine metastatic disease versus currently used methods.

METHODS: We recruited 40 patients with spinal metastatic disease who were operated at Geneva University Hospitals by the Neurosurgery or Orthopedic teams between the years of 2015 and 2020. We did an ROC analysis in order to determine the accuracy of the SORG ML algorithm and nomogram versus the Tokuhashi original and revised scores.

RESULTS: The analysis of data of our independent cohort shows a clear advantage in terms of predictive ability of the SORG ML algorithm and nomogram in comparison with the Tokuhashi scores. The SORG ML had an AUC of 0.87 for 90 days and 0.85 for 1 year. The SORG nomogram showed a predictive ability at 90 days and 1 year with AUCs of 0.87 and 0.76 respectively. These results showed excellent discriminative ability as compared with the Tokuhashi original score which achieved AUCs of 0.70 and 0.69 and the Tokuhashi revised score which had AUCs of 0.65 and 0.71 for 3 months and 1 year respectively.

CONCLUSION: The predictive ability of the SORG ML algorithm and nomogram was superior to currently used preoperative survival estimation scores for spinal metastatic disease.

PMID:35925406 | DOI:10.1007/s00701-022-05322-7

Ophthalmologie. 2022 Jun 23. doi: 10.1007/s00347-022-01672-w. Online ahead of print.

ABSTRACT

BACKGROUND: Immune reaction (IR) after penetrating keratoplasty (PKP) is a serious complication with a high risk of graft failure. The aim of this study was to analyze and evaluate the risk factors for IR, in particular, the influence of graft size and centration.

PATIENTS AND METHODS: A total of 2133 patients who underwent PKP between January 2009 and July 2019 were included in this retrospective study. The following endpoints were analyzed: frequency of IR, graft origin, donor and patient age, diagnosis, corneal diameter and ratio of the graft size to the recipient cornea size. In addition, the role of graft centration, with the help of distance measurements of the graft margins to the vascularized limbus at four locations, was investigated in detail.

RESULTS: Overall, 8.25% of patients suffered from IR during the observational period. The frequency of IR was significantly correlated (p < 0.001) with the ratio of the graft size to the recipient cornea size. In addition, a statistically significant correlation was found between the occurrence of IR and a small distance to the limbal margins in the Y‑axis (inferior and superior). In particular, the correlation coefficient was larger at the inferior limbus (p < 0.001).

CONCLUSION: An IR after PKP is a not uncommon complication and is significantly related to graft size and centration. A large graft chosen in relation to the recipient cornea and the proximity of the graft to the vascularized limbus at the inferior and superior sites significantly correlate with the occurrence of IR. These are important risk factors for graft survival, which can be influenced by the corneal microsurgeon and could possibly be further optimized in the future.

PMID:35925343 | DOI:10.1007/s00347-022-01672-w

Ophthalmologie. 2022 Jun 15. doi: 10.1007/s00347-022-01669-5. Online ahead of print.

ABSTRACT

BACKGROUND: Glaucoma drainage devices (GDD) are an invasive procedure for the treatment of glaucoma. The PAUL® Glaucoma Implant (PGI) has been developed as a new, innovative therapeutic procedure. The PGI differs from previous GDD with regard to the smaller size of the drainage tube.

OBJECTIVE: This study analyses 6‑months results of the PGI in terms of effectiveness and safety.

METHODS: A database of patients treated with the PGI at the University Eye Hospital Bonn was created and continuously updated based on follow-up controls. Statistical analysis was performed using SPSS Statistics for Windows (IBM Corp., Armonk, NY, USA).

RESULTS: A total of 53 eyes of the first 51 consecutive patients treated with the PGI were included in this study. Mean intraocular pressure was 26.62 mmHg (7-48 mmHg) preoperatively and reduced to 12.20 mmHg (3-22 mmHg) after 6 months. Local pressure-lowering therapy was reduced from 3.37 agents preoperatively to 0.30 agents after 6 months. The complication rate was low; only 3 patients (5.8%) had persistent hypotony. In 16 patients, the intraluminal prolene stent was removed in the postoperative course after an average of 2.9 months. Thereafter, these patients experienced a reduction of intraocular pressure from 22.21 to 11.07 mmHg.

CONCLUSION: The PAUL® Glaucoma Implant is a safe treatment modality that can successfully reduce intraocular pressure to a low level and reduce pressure-lowering local therapy. It has a low complication rate, particularly regarding postoperative hypotony.

PMID:35925340 | DOI:10.1007/s00347-022-01669-5