Nevin Manimala

BMC Pediatr. 2022 Jun 15;22(1):344. doi: 10.1186/s12887-022-03191-8.

ABSTRACT

BACKGROUND: Iron overload (IO) is a complication in transfusion dependent beta thalassaemia (TDT). Pathogenic variants in genes involving iron metabolism may confer increased risk of IO. The objective of this study was to determine the magnitude of the cardiac and hepatic IO and determine whether pathogenic variants in HFE, SLC40A1 and TFR2 genes increase the risk of IO in a cohort of TDT patients in Sri Lanka.

MATERIALS AND METHODS: Fifty-seven (57) patients with TDT were recruited for this study. Serum ferritin was done once in 3 months for a period of one year in all. Those who were ≥ 8 years of age (40 patients) underwent T2* MRI of the liver and heart. Fifty-two (52) patients underwent next generation sequencing (NGS) to identify pathogenic variants in HBB, HFE, SLC40A1 and TFR2 genes.

RESULTS: The median age of the patients of this cohort was 10 years. It comprised of 30 (52.6%) boys and 27 (47.4%) girls. The median level of serum ferritin was 2452 ng/dl. Hepatic IO was seen in 37 (92.5%) patients and cardiac IO was seen in 17 (42.5%) patients. There was no statistically significant correlation between serum ferritin and hepatic or cardiac IO. Thirty-two (61.5%), 18 (34.6%), 2 (3.8%) of patients were homozygotes, compound heterozygotes and heterozygotes for pathogenic variants in the HBB gene. Eight (15.4%) and 1 (1.9%) patients were heterozygotes for pathogenic and likely pathogenic variants of HFE genes respectively. There were no pathogenic variants for the TfR2 and SLC40A1 genes. The heterozygotes of the pathogenic variants of the HFE were not at increased risk of IO.

CONCLUSIONS: Cardiac T2* MRI helps to detect cardiac IO in asymptomatic patients. It is important to perform hepatic and cardiac T2* MRI to detect IO in patients with TDT. There was no statistically significant correlation between pathogenic variants of HBB and HFE genes with hepatic and cardiac IO in this cohort of patients.

PMID:35705926 | DOI:10.1186/s12887-022-03191-8

BMC Urol. 2022 Jun 15;22(1):84. doi: 10.1186/s12894-022-01031-6.

ABSTRACT

BACKGROUND: The insertion of a ureteral access sheath (UAS) is a frequent procedure during flexible ureteroscopy (fURS) to facilitate kidney stone treatment. The aim of this study was to investigate the influence of 12/14 French (F) UAS on fURS outcomes.

METHODS: We performed a retrospective monocentric analysis of fURS procedures conducted at the Department of Urology (University Hospital Schleswig-Holstein, Lübeck, Germany) for kidney stone treatment via lithotripsy or basket stone retrieval between September 2013 and June 2017. Uni- and multivariate analyses were done with the help of RStudio (Version 1.0.136) software.

RESULTS: In total, 283 consecutive fURS were analyzed. UAS was applied in 98 cases (34.63%). The insertion of UAS was preferred in cases with multiple kidney stones and larger median maximal stone diameter (p < 0.05). UAS usage correlated with elevated radiation exposure in seconds (94 vs. 61; p < 0.0001), prolonged operation time in minutes (99 vs. 66, p < 0.0001), length of hospital stay over 48 h (LOS, 22.49% vs. 10.81%; p = 0.015), more frequent postoperative systemic inflammatory response syndrome (SIRS, 13.27% vs. 4.32%; p = 0.013) and lower postoperative stone-free rates (60.20% vs. 78.92%; p = 0.0013). Moreover, we conducted uni- and multivariate subgroup analysis for cases with multiple kidney stones (≥ 2) and comparable stone burden; UAS was inserted in 48.3% of these cases (71/147). On multivariate logistic regression, UAS insertion was statistically associated with prolonged operation time in minutes (101 vs. 77; p = 0.004). No statistical differences regarding radiation exposure, stone-free rates, postoperative SIRS rates or LOS were noted between UAS and non-UAS patients with multiple kidney stones of similar size (p > 0.05).

CONCLUSIONS: 12/14F UAS does not seem to improve overall outcomes in fURS for kidney stones. In patients with multiple kidney stones it may be associated with elevated operation time without a clear benefit in terms of improved stone-free status or reduced perioperative complication rate. Further prospective randomized studies to specify the indications for UAS usage are urgently needed.

PMID:35705924 | DOI:10.1186/s12894-022-01031-6

BMC Public Health. 2022 Jun 16;22(1):1202. doi: 10.1186/s12889-022-13610-1.

ABSTRACT

INTRODUCTION: As a response to the humanitarian crisis in Syria, the Irish government agreed to accept up to 4000 refugees for resettlement in Ireland in 2016. Prior to their arrival in Ireland, health screening was carried out by the International Organisation for Migration. However, no population-level measurement of the health status or needs takes place in Ireland to inform policy or health services requirements.

METHODS: Cross-sectional data from a self-completed questionnaire among 194 Syrian Refugees aged 16 years and older resident in reception centres in Ireland in 2017/2018 is reported upon. The questionnaire measured self-reported health including quality of life and all study material were available in English and Arabic. The data was examined applying descriptive statistics and regression analysis.

RESULTS: Syrian Refugees in Ireland consist of a relatively young cohort; in this study the majority of participants were younger than 35 years (69.5%). Two-thirds of the respondents reported their overall health status to be good or very good. The most common health condition was found to be headache and the most common medications used were painkillers. Chronic pain was experienced by one quarter of respondents; 27.5% were considered as suffering from anxiety and 10.0% had symptoms compatible with post-traumatic stress disorder (PTSD). A significant relationship was observed between chronic pain and self-rated health, as well as between chronic pain and anxiety. Quality of life (QoL) scores were lowest for the QoL environment domain.

CONCLUSIONS: Chronic pain is relatively widespread among these young and otherwise healthy refugees. Psychological distress and trauma are important factors in respondents’ quality of life scores. Chronic pain is associated with one’s mental health. Our findings and the literature suggests that the diagnosis and treatment of pain and providing care in a culturally sensitive manner should be a priority and included in the preparation and training of the relevant care providers. Additionally, the impact of living conditions on quality of life should not be underestimated.

PMID:35705914 | DOI:10.1186/s12889-022-13610-1

BMC Bioinformatics. 2022 Jun 15;23(1):230. doi: 10.1186/s12859-022-04772-1.

ABSTRACT

Abundant datasets generated from various big science projects on diseases have presented great challenges and opportunities, which contributed to unfolding the complexity of diseases. The discovery of disease-associated molecular networks for each individual plays an important role in personalized therapy and precision treatment of cancer-based on the reference networks. However, there are no effective ways to distinguish the consistency of different reference networks. In this study, we developed a statistical method, i.e. a sample-specific differential network (SSDN), to construct and analyze such networks based on gene expression of a single sample against a reference dataset. We proved that the SSDN is structurally consistent even with different reference datasets if the reference dataset can follow certain conditions. The SSDN also can be used to identify patient-specific disease modules or network biomarkers as well as predict the potential driver genes of a tumor sample.

PMID:35705908 | DOI:10.1186/s12859-022-04772-1

BMC Cancer. 2022 Jun 15;22(1):658. doi: 10.1186/s12885-022-09769-w.

ABSTRACT

OBJECTIVE: To evaluate whether the presence of human papillomavirus (HPV) DNA and p16 might be associated with better prognosis in patients with hypopharyngeal carcinoma (HPC), especially on overall survival (OS) and disease-free survival (DFS).

METHOD: PubMed, the Cochrane Library, the Web of Science and EMBASE were searched from inception to April 2021 to search for HPV DNA- and p16-related prognostic articles on HPC. Meta-analysis was performed on the selected articles according to the inclusion and exclusion criteria. Publication bias was assessed for the included studies with Egger’s test. All studies were analyzed by using Stata 16.0 statistical software.

RESULTS: A total of 18 studies were included, including 12 HPV DNA studies and 11 p16 studies. Meta-analysis showed that HPV DNA positivity was a strong prognostic factor for improved OS in patients with HPC, with a pooled hazard ratio (HR) of 0.61 (95% CI, 0.54-0.69), but there was no statistically significant difference in DFS (HR, 0.60; 95% CI, 0.31-1.16). Patients with p16-positive tumors had better OS (HR, 0.66; 95% CI, 0.49-0.89) and DFS (HR, 0.59; 95% CI, 0.44-0.78) than patients with p16-negative tumors.

CONCLUSIONS: This study suggests that the presence of HPV DNA leads to better OS in patients with HPC, and the presence of p16 also corresponds to better OS and DFS. Our results provide up-to-date evidence to clinicians and researchers. Larger studies adjusting for prognostic factors are needed in subsequent studies.

PMID:35705893 | DOI:10.1186/s12885-022-09769-w

Swiss Med Wkly. 2022 Jun 13;152(23-24):Swiss Med Wkly. 2022;152:w30160. doi: 10.4414/smw.2022.w30160. eCollection 2022 Jun 6.

ABSTRACT

STUDY AIMS: Switzerland’s Labour Law and its Ordonnance on Maternity Protection aim to protect the health of pregnant employees and their unborn children while enabling them to continue to pursue their professional activities. Some companies encounter difficulties implementing the law’s provisions. The Department of Occupational and Environmental Health, part of the Center for Primary Care and Public Health (Unisanté), has provided specialist occupational medicine consultations for pregnant employees since 2015. This study aimed to evaluate how well Swiss’ maternity protection legislation is implemented by examining a list of relevant indicators measured during the occupational health consultation. The study also sought to investigate the consultation support provided to the relevant stakeholders and the adjustments made to pregnant employees’ working conditions.

METHODS: Descriptive variables and indicators relative to the application of the Swiss maternity protection legislation for 83 pregnant employees were collected during the consultation’s pilot phase (between 2015 and 2016). Descriptive statistics and cross-analyses of these indicators were made.

RESULTS: Most pregnant employees faced multiple exposures to occupational risks. Preventive risk analyses were rare. Few adjustments to workstations were proposed. We found a tendency for employees to leave their workstations early on in their pregnancies due to sick leave certificate prescriptions. Specialist consultation and collaboration with occupational health physicians to recommend interventions for pregnant employees can provide significant benefits and help some pregnant women to continue at their workstations with appropriate adjustments.

DISCUSSION: A specialised occupational health consultation is a useful instrument for identifying occupational hazards for both the pregnant woman and her unborn child. It is also an opportunity to explain employers’ legal responsibilities and obligations to safeguard the health of their pregnant employees and to give specific advice for their company’s situation. This consultation also enables employers to maintain their employees’ valuable professional competencies in the workplace for as long as possible. Finally, occupational health consultation helps and supports healthcare providers who must, according to the law, make decisions about whether pregnant employees can continue working safely or not.

PMID:35704946 | DOI:10.4414/smw.2022.w30160

Can Urol Assoc J. 2022 Jun 9. doi: 10.5489/cuaj.7781. Online ahead of print.

ABSTRACT

INTRODUCTION: Transrectal ultrasound (TRUS)-guided prostate biopsy is a common procedure performed to diagnose prostate cancer. The risk of infection complications is well-described in the literature, and strategies to avoid such complications continue to evolve over time. We performed a retrospective review of our infection complications and propose a strategy for improvement.

METHODS: We reviewed clinical outcomes from patients undergoing TRUS-guided prostate biopsy at our institution from November 2018 to November 2020. We reported the antimicrobial prophylaxis received, whether the biopsy was systematic or targeted, and we examined the rate of clinically significant infection complications and hospitalization.

RESULTS: Among 312 men who underwent TRUS-guided prostate biopsy during the study period, seven (2.2%) had an infection. Four patient groups with distinct antimicrobial regimen were identified; the largest of these patient groups received a three-day course of cefixime and a single dose of fosfomycin (59%). The proportion of patients with infection complications across these groups did not demonstrate a statistically significant difference (p=0.803). There was no significant difference in proportion of infection between systematic and targeted biopsy groups (3.0% vs. 0%, p=0.204). The proportion of patients hospitalized was 1.3%, with a mean length of stay of four days.

CONCLUSIONS: We report a rate of clinically significant infection following TRUS-guided prostate biopsy of 2.2%. Due to our referral pathway, we have an inconsistent approach to antimicrobial prophylaxis, although there was no statistically significant difference in infection rate between the groups. We propose a standardized approach that may lead to improved patient outcomes.

PMID:35704931 | DOI:10.5489/cuaj.7781

J Chem Inf Model. 2022 Jun 15. doi: 10.1021/acs.jcim.2c00526. Online ahead of print.

ABSTRACT

The discovery of therapeutic peptides is often accelerated by means of virtual screening supported by machine learning-based predictive models. The predictive performance of such models is sensitive to the choice of data and its representation scheme. While the peptide physicochemical and compositional representations fail to distinguish sequence permutations, the amino acid arrangement within the sequence lacks the important information contained in physicochemical, conformational, topological, and geometrical properties. In this paper, we propose a solution to the identified information gap by implementing a hybrid scheme that complements the best traits from both approaches with the aim of predicting antimicrobial and antiviral activities based on experimental data from DRAMP 2.0, AVPdb, and Uniprot data repositories. Using the Friedman test of statistical significance, we compared our hybrid, sequential properties approach to peptide properties, one-hot vector encoding, and word embedding schemes in the 10-fold cross-validation setting, with respect to the F1 score, Matthews correlation coefficient, geometric mean, recall, and precision evaluation metrics. Moreover, the sequence modeling neural network was employed to gain insight into the synergic effect of both properties- and amino acid order-based predictions. The results suggest that sequential properties significantly (P < 0.01) surpasses the aforementioned state-of-the-art representation schemes. This makes it a strong candidate for increasing the predictive power of screening methods based on machine learning, applicable to any category of peptides.

PMID:35704881 | DOI:10.1021/acs.jcim.2c00526

Popul Health Manag. 2022 Jun 15. doi: 10.1089/pop.2022.0062. Online ahead of print.

ABSTRACT

The purpose of this study was 2-fold: (1) to analyze the change in diabetes-related hospitalization rates of rural Latino older adult patients as compared with their White counterparts and (2) to determine what factors, including rural health clinic (RHC) participation in accountable care organizations (ACOs), are related to reduced disparities in diabetes-related hospitalization rates. Data for Latino Medicare beneficiaries who were served by RHCs over an 8-year period were analyzed. First, a difference-of-means test was conducted to determine whether there was a change in disparity from the pre-ACO period (2008-2011) to the post-ACO period (2012-2015). A statistically significant decrease in disparity over time was found (t = -7.6899, df = 115, P < 0.001.) Second, multiple regression analyses of 3 separate models were conducted to determine whether ACO participation contributed to reducing disparities in diabetes-related hospitalization rates between Latinos and Whites. The analyses indicated moderate evidence that consistent ACO participation is associated with lower health disparities (t = -1.947, P = 0.0525). However, this association is not significant after balancing covariates, and no causal relationship can be established. Latinos compose one of the fastest growing groups in rural as well as urban areas of the United States. It is critical that ACOs, with their emphasis on care coordination, health care quality, and value, monitor their provision of services to Latinos, rural, and other vulnerable populations.

PMID:35704880 | DOI:10.1089/pop.2022.0062

J Palliat Med. 2022 Jun 14. doi: 10.1089/jpm.2021.0560. Online ahead of print.

ABSTRACT

Background: Palliative care (PC) pharmacists can play an important role in optimizing medications for patients with serious illnesses by aligning patients’ goals with their treatment regimens. Objectives: The objectives of this study were to (1) quantify successful pharmacist deprescribing interventions incorporated in the hospital discharge plan and (2) describe deprescribing interventions by medication class, reason for discontinuation, and perception of patient/caregiver understanding and acceptance. Methods: This pilot study included 45 inpatient PC consultations and collected data on deprescribing interventions performed by PC clinical pharmacists in Maryland and Washington, D.C., U.S. Descriptive statistics were used to analyze outcomes. Results: Eighty-two percent of recommendations were successfully implemented during hospitalization and included in the discharge plan. Medication classes recommended for discontinuation included vitamins/supplements (20%), antidiabetics (13%), antiplatelets (10%), anticoagulants (10%), statins (10%), antihypertensives (7%), proton pump inhibitors/H2 blockers (7%), antibiotics (5%), dementia medications (1%), and antidepressants (1%). Top reasons for discontinuation included pill burden, unacceptable treatment burden, and potential harm outweighs potential benefit. Conclusions: Results of this study demonstrate PC pharmacists’ deprescribing recommendations have a high rate of successful implementation by the primary inpatient care team.

PMID:35704875 | DOI:10.1089/jpm.2021.0560