Tag: nevin manimala

Behav Brain Res. 2023 May 12:114494. doi: 10.1016/j.bbr.2023.114494. Online ahead of print.

ABSTRACT

Prader-Willi syndrome (PWS), a neurodevelopmental disorder based on the loss of paternally derived but maternally imprinted genes on chromosome 15q11-13, is typically associated with hyperphagia-related behavior leading to massive obesity. Recently, there has been increasing evidence for dysregulated expression patterns of genes outside the PWS locus that influence the behavioral phenotype and for alterations in the dopaminergic system associated with weight regulation in PWS. In this study, we investigated the epigenetic regulation of the promoter regions of the dopamine transporter (DAT) and dopamine receptor D2 (DRD2) genes and their association with hyperphagia-related behavior in PWS. Methylation of the DAT and DRD2 promoter regions was examined by DNA bisulfite sequencing in 32 individuals with PWS and compared with a control group matched for sex, age, and body mass index (BMI). Hyperphagia-related behavior was assessed using the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Analysis by linear mixed models revealed a significant effect of factor group on mean DAT promoter methylation rate with decreased mean methylation in PWS (7.3 ± 0.4%) compared to controls (18.8 ± 0.6%), p < 0.001. In the PWS group, we further identified effects of HQ-CT score and BMI on DAT promoter methylation. Although also statistically significantly different (8.4 ± 0.2 in PWS, 10.5 ± 0.3 in controls, p < 0.001), DRD2 promoter methylation visually appeared to be evenly distributed between groups, raising concerns regarding a biological effect. Here, we provide evidence for altered epigenetic regulation of the DAT gene in PWS, which is associated with PWS-typical hyperphagia-related behaviors.

PMID:37182741 | DOI:10.1016/j.bbr.2023.114494

J Vasc Interv Radiol. 2023 May 12:S1051-0443(23)00342-1. doi: 10.1016/j.jvir.2023.05.010. Online ahead of print.

ABSTRACT

OBJECTIVE: In this systematic review and meta-analysis, we will assess the efficacy and safety of MMA embolization with liquid embolic agents and the outcomes of patients following this procedure.

METHODS: A review of the literature was carried out to identify the studies investigating the efficacy and safety of MMA embolization with liquid embolysate in Chronic Subdural Hematoma (cSDH) patients in PubMed, Scopus, Embase, and Web of science. The keywords liquid embolic agent, middle meningeal artery, cSDH, and embolization and their synonyms were used to build up the search strategy. R statistical software and random-effects model were used for analysis. Heterogeneity was reported as I² and publication bias was calculated using Egger’s test.

RESULTS: Of the 628 articles retrieved, 14 studies were eligible to be included in this study. A total of data on 276 patients were analyzed. N-butyl cyanoacrylate and Onyx were the most commonly used embolizing agents. This study revealed a pooled mortality rate of 0%(CI:0.00-100%), recurrence and failure rate of 3%(CI:1-10%), reoperation rate of 4%(CI:2-12%), rate of size decrease of 94%(CI:79-98%), success rate of 100%(CI:76-100%) and adverse event rate of 1%(CI:0.00-4%).

CONCLUSIONS: With low mortality, recurrence, reoperation, and adverse event rates and a remarkable decrease in the size of the hematoma, MMA embolization with liquid embolic might be considered a safe and effective treatment option in patients with previously failed surgical intervention and also as an alternative to the conventional treatments.

PMID:37182671 | DOI:10.1016/j.jvir.2023.05.010

Urology. 2023 May 12:S0090-4295(23)00394-1. doi: 10.1016/j.urology.2023.05.002. Online ahead of print.

ABSTRACT

OBJECTIVES: To collate available data via systematic review considering aetiology, presentation and treatment of Uro-Symphyseal Fistula (USF) in order to inform a contemporary management framework.

MATERIALS AND METHODS: A systematic review was performed according to the Cochrane Handbook and registered in PROSPERO (CRD42021232954). MEDLINE and CENTRAL databases were searched for manuscripts considering USF published between 2000 and 2022. Full text manuscripts were reviewed for clinical data. Univariate statistical analysis was performed where possible.

RESULTS: 31 manuscripts, comprising 248 USF cases, met inclusion criteria. Suprapubic pain and difficulty ambulating were common symptoms. MRI confirmed the diagnosis in 95% of cases. Radiotherapy for prostate cancer was the most common predisposing factor (93%). Among these patients, prior endoscopic bladder outlet surgery was common (83%; bladder neck incision/urethral dilatation n=59, TURP/GLL PVP n=34). In those with prior prostatic radiation, conservative management failed in 96% of cases. Cystectomy with urinary diversion (86% n=184) was favoured over bladder sparing techniques (14% (n=30) after prior radiation. In radiation naïve patients, conservative management failed in 72% of patients, resulting in either open fistula repair with flap (62%) or radical prostatectomy (28%).

CONCLUSION: Prior radiotherapy is a significant risk factor for USF and almost always requires definitive major surgery (debridement, cystectomy and urinary diversion). On the basis of the findings within this systematic review, we present management principles that may assist clinicians with these complex cases. Further research into pathogenesis, prevention and optimal treatment approach is required.

PMID:37182647 | DOI:10.1016/j.urology.2023.05.002

F S Sci. 2023 May 12:S2666-335X(23)00030-7. doi: 10.1016/j.xfss.2023.05.002. Online ahead of print.

ABSTRACT

OBJECTIVE: To evaluate whether the effect of de novo mutated balanced reciprocal translocation on the rate of euploid embryos varied from inherited balanced reciprocal translocation.

DESIGN: A retrospective cohort study compared the percentage of euploid embryo and the proportion of patients with at least one euploid embryo between de novo mutated balanced reciprocal translocation (i.e. the group of de novo mutated carriers) and inherited balanced reciprocal translocation (i.e. the group of inherited carriers).

SETTING: An academic fertility center.

PATIENT(S): A total of 413 couples with balanced reciprocal translocation (219 female carriers and 194 male carriers) who underwent their first cycle of preimplantation genetic testing for structural rearrangements (PGT-SR) were included.

INTERVENTION(S): Carriers of balanced reciprocal translocation either de novo mutated or inherited.

MAIN OUTCOME MEASURE(S): The percentage of euploid embryo and the proportion of patients with at least one euploid embryo.

RESULT(S): Carriers of the de novo mutated balanced reciprocal translocation had a lower percentage of euploid embryos (19.5% vs. 25.5%; P = 0.027), and less likely to have at least one euploid embryo (47.1% vs. 60.1%; P = 0.029) compared with the carrier of the inherited balanced reciprocal translocation. In the male-carrier subgroup, the percentage of euploid embryos (16.7% vs. 26.7%; P = 0.009) and the proportion of patients with at least one euploid embryo (41.9% vs. 67.5%; P = 0.002) were lower among the de novo mutated carriers than the inherited carriers. However, in the female-carrier subgroup, there was no statistically significant difference in the percentage of euploid embryos (22.4% vs. 24.4%; P = 0.586) or the proportion of patients with at least one euploid embryo (52.3% vs. 53.7%; P = 0.864) between the de novo mutated carriers and the inherited carriers.

CONCLUSION(S): The de novo mutated balanced reciprocal translocation was associated with a lower percentage of euploid embryos and a lower chance of obtaining at least one euploid embryo compared with the inherited balanced reciprocal translocation.

PMID:37182600 | DOI:10.1016/j.xfss.2023.05.002

J Plast Reconstr Aesthet Surg. 2023 Apr 18;82:186-197. doi: 10.1016/j.bjps.2023.04.007. Online ahead of print.

ABSTRACT

BACKGROUND: The impact of chemotherapy on complications following breast reconstruction surgery (BRS) is currently inconclusive. This meta-analysis investigates the impact of chemotherapy on complication rates in BRS.

METHODS: Preferred Reporting in Systematic Review and Meta-Analysis (PRISMA) guidelines was used to search relevant studies published from January 2006 to March 2022. The complication rates of neoadjuvant systemic therapy (NST) and adjuvant systemic therapy (AST) were analyzed via RevMan software 5.4, and a P value of< 0.05 was considered significant. The quality of selected studies was performed using the Newcastle-Ottawa scale for quality assessment.

RESULTS: A total of 18 studies comprising 49,217 patients were included. There was no significant difference in the total complications rate, major complications, or minor complications between NST and BRS or control. The rate of wound dehiscence was higher in the NST group compared with the BRS only group [RR= 1.54, 95% CI, (1.08, 2.18), P = 0.02], and the rate of infection was lower in the NST group compared with the BRS only group, [RR= 0.75, 95% CI, (0.61, 0.94), P = 0.01]. No significant difference in the rates of hematoma, seroma, skin necrosis, and implant loss was detected between NST and AST, or NST with BRS only. No statistically significant differences in total complication rates were observed between flap and implant BRS types (P = 0.88).

CONCLUSION: No significant differences between AST and NST were detected for complications. Significantly, NST had more wound dehiscence and less infection rates compared with BRS only groups, possibly reflecting selection bias or issues in the design of reported studies.

LEVEL OF EVIDENCE: I.

PMID:37182249 | DOI:10.1016/j.bjps.2023.04.007

Mar Pollut Bull. 2023 May 12;192:114989. doi: 10.1016/j.marpolbul.2023.114989. Online ahead of print.

ABSTRACT

The presence of Emerging Pollutants (EPs) on the beaches of Acapulco, Mexico, is evaluated for the first time. Samples were taken from the discharge of the wastewater treatment plant at Olvidada beach, and at three beaches that receive contributions from different streams that cross through the city in Santa Lucia Bay (SLB). Using solid phase extraction and gas chromatography/mass spectrometry, 77 EPs were identified. A semiquantitative evaluation of their concentrations were made using the relative areas of the chromatographic peaks, showing that the contamination of the beaches of SLB is mainly due to the pollutants going into the streams of the micro-basins. A statistical factor analysis of all the EPs allowed differentiation of the sampling points, reducing the number of variables, which benefits future analytical determinations in the study area. Due to the toxicological characteristics of the compounds found, their presence on public-use beaches represents a risk to human health.

PMID:37182246 | DOI:10.1016/j.marpolbul.2023.114989

Semergen. 2023 May 12;49(5):101986. doi: 10.1016/j.semerg.2023.101986. Online ahead of print.

ABSTRACT

Survival analysis is a statistical method that assesses the time between an initial event (inclusion of the subject in the study) and a final event, which occurs when the subject presents a previously defined characteristic. Its objective is to estimate, taking into account the time variable, the probability of a certain event occurring. It has the particularity of accepting incomplete participation times and assuming that all the factors involved in the study are homogeneous. There are several methods to calculate the probability of survival, the most used are the Kaplan-Meier and the actuarial.

PMID:37182235 | DOI:10.1016/j.semerg.2023.101986

Health Econ. 2023 May 14. doi: 10.1002/hec.4698. Online ahead of print.

ABSTRACT

Using officially registered weekly mortality data, we estimate a counterfactual death count in the absence of the pandemic and we calculate the number of excess deaths in England and Wales during 2020 after the pandemic onset. We also break down those figures by region, age, gender, place of death, and cause of death. Our results suggest that there were 82,428 (95% Confidence interval [CI]: 78,402 to 86,415) excess deaths, and 88.9% (95% CI: 84.8%-93.5%) of them was due to COVID-19, suggesting that non-COVID-19 excess mortality may have been slightly higher that what has been previously estimated. Regarding deaths not due to COVID-19, persons older than 45 years old who died at their homes, mainly from heart diseases and cancer, were the most affected group. Across all causes of death, there was increased excess mortality from dementia and Alzheimer’s disease, diabetes, Parkinson’s disease and heart-related disease, while at the same period there was a reduction in deaths from pneumonia and influenza, stroke as well as infectious diseases and accidents. Supported by regional panel event estimates, our results highlight how measures to mitigate the pandemic spread and ease the pressure on healthcare service systems may adversely affect out-of-hospital mortality from other causes.

PMID:37182218 | DOI:10.1002/hec.4698

Front Oncol. 2023 Apr 27;13:1098785. doi: 10.3389/fonc.2023.1098785. eCollection 2023.

ABSTRACT

BACKGROUND: Primary central nervous system lymphoma (PCNSL) is an uncommon variant of non-Hodgkin lymphoma (NHL) with high aggressiveness and poor prognosis. Although complete remission (CR) could be achieved with therapy, some patients remain refractory or recurrently with a worse response to salvage treatment and poor prognosis. No consensus on rescue therapy has been established currently. This study is aimed to evaluate the efficacy of radiotherapy or chemotherapy in first-time relapsed or refractory progressed PCNSL (R/R PCNSL) and analysis the prognostic factors, to explore differences between relapsed and refractory PCNSL.

METHODS: Totally 105 R/R PCNSL patients from Huashan Hospital between 1 January 2016 and 31 December 2020 were enrolled, underwent salvage radiotherapy or chemotherapy and received response assessments after each course. PFS1 was defined as the time from diagnosis to the first time of recurrence or refractory progression. Statistical analysis was performed with SPSS version 26.0.

RESULTS: Response and survival were analyzed over a 17.5months (median) follow-up. Compared to relapsed PCNSL (n = 42), refractory PCNSL (n = 63) had a shorter median PFS1 related to deep lesions. 82.4% of cases were discovered as the second relapse or progression. ORR and PFS were both higher in relapsed PCNSL than those in refractory PCNSL. ORR of radiotherapy in both relapsed and refractory PCNSL was higher than that of chemotherapy. Elevated CSF protein and ocular involvement were related to PFS and OS after recurrence respectively in relapsed PCNSL. Age ≥ 60y was unfavorable to OS-R (OS after recurrence or progression) in refractory PCNSL.

CONCLUSIONS: Our results indicate that relapsed PCNSL responds well to inducing and salvage therapy and has a better prognosis compared to refractory PCNSL. Radiotherapy is effective for PCNSL after the first relapse or progression. Age, CSF protein level, and ocular involvement could be potential factors to predict prognosis.

PMID:37182159 | PMC:PMC10174451 | DOI:10.3389/fonc.2023.1098785

Front Oncol. 2023 Apr 25;13:1105877. doi: 10.3389/fonc.2023.1105877. eCollection 2023.

ABSTRACT

OBJECTIVE: To systematically review the differences between radiofrequency ablation and partial nephrectomy in patients with early-stage renal cell carcinoma, and to provide evidence-based medical evidence for the choice of surgery for patients with early-stage renal cell carcinoma.

METHODS: According to the search strategy recommended by the Cochrane Collaboration, Chinese databases such as CNKI, VIP Chinese Science and Technology Periodicals Database (VIP), and Wanfang Full-text Database were searched with Chinese search terms. And PubMed and MEDLINE as databases for English literature retrieval. Retrieve the relevant literature on renal cell carcinoma surgical methods published before May 2022, and further screen radiofrequency ablation and partial nephrectomy in patients with renal cell carcinoma The relevant literature on the application is analyzed. RevMan5.3 software was used for heterogeneity test and combined statistical analysis, sensitivity analysis, and subgroup analysis. Analysis, and draw forest plot, using Stata software Begger quantitative assessment of publication bias.

RESULTS: A total of 11 articles were involved, including 2958 patients. According to the Jadad scale, 2 articles were of low quality, and the remaining 9 articles were of high quality. Results of this study demonstrates the advantages of radiofrequency ablation in early-stage renal cell carcinoma. The results of this meta-analysis showed that compared with partial nephrectomy, there was significant difference in the 5-year overall survival rate between radiofrequency ablation and partial nephrectomy and there was a statistically significant difference between the two surgical methods in the 5-year relapse free survival rate of early renal cell carcinoma.

CONCLUSION: 1. Compared with partial nephrectomy, the 5-year relapse-free survival rate, the 5-year cancer specific survival rate and the overall 5-year survival rate were higher in the radiofrequency ablation group. 2. Compared with partial nephrectomy, there was no significant difference in the postoperative local tumor recurrence rate of radiofrequency ablation. 3. Compared with partial resection, radiofrequency ablation is more beneficial to patients with renal cell carcinoma.

PMID:37182152 | PMC:PMC10166822 | DOI:10.3389/fonc.2023.1105877