Nevin Manimala

Breast Dis. 2024;43(1):213-221. doi: 10.3233/BD-240005.

ABSTRACT

BACKGROUND: The PI3K protein is involved in the PI3K/AKT/mTOR pathway. Deregulation of this pathway through PIK3CA mutation is common in various tumors. The aim of this work is to identify hotspot mutation at exons 9 and 20 in Tunisian patients with sporadic or hereditary breast cancer.

METHODS: Hotspot mutations in exon 9 and exon 20 of the PIK3CA gene were identified by QPCR-High Resolution Melting followed by COLD-PCR and sequencing in 63 (42 sporadic cases and 21 hereditary cases) tumor tissues collected from Tunisian patient with breast cancer. MCF7, and BT20 breast cancer cell lines harboring the PIK3CA hotspot mutations E545K and H1047R in exon 9 and exon 20 respectively, were used as controls in HRM experiments.

RESULTS: PIK3CA hotspot mutations were detected in 66.7% (28 out of 42) of sporadic BC cases, and in 14.3% (3 out of 21) of hereditary BC. The E545K and the H1048Y were the most prevalent mutations identified in patients with sporadic and hereditary BC, whereas the H1047R hotspot mutation was not found in our patients. Statistical analysis showed that PIK3CA mutation associated with an aggressive behavior in patients with sporadic BC, while it’s correlated with age, tumor stage and tumor size in the group patients with hereditary breast cancer.

CONCLUSIONS: Our results showed a novel PIK3CA hotspot mutation in Tunisian breast cancer patients detected by HRM-COLD-PCR. Moreover, the absence of PIK3CA hotspot mutation associated with good prognosis.

PMID:38943378 | DOI:10.3233/BD-240005

Hum Brain Mapp. 2024 Jul 15;45(10):e26763. doi: 10.1002/hbm.26763.

ABSTRACT

In this article, we develop an analytical approach for estimating brain connectivity networks that accounts for subject heterogeneity. More specifically, we consider a novel extension of a multi-subject Bayesian vector autoregressive model that estimates group-specific directed brain connectivity networks and accounts for the effects of covariates on the network edges. We adopt a flexible approach, allowing for (possibly) nonlinear effects of the covariates on edge strength via a novel Bayesian nonparametric prior that employs a weighted mixture of Gaussian processes. For posterior inference, we achieve computational scalability by implementing a variational Bayes scheme. Our approach enables simultaneous estimation of group-specific networks and selection of relevant covariate effects. We show improved performance over competing two-stage approaches on simulated data. We apply our method on resting-state functional magnetic resonance imaging data from children with a history of traumatic brain injury (TBI) and healthy controls to estimate the effects of age and sex on the group-level connectivities. Our results highlight differences in the distribution of parent nodes. They also suggest alteration in the relation of age, with peak edge strength in children with TBI, and differences in effective connectivity strength between males and females.

PMID:38943369 | DOI:10.1002/hbm.26763

Aust N Z J Obstet Gynaecol. 2024 Jun 29. doi: 10.1111/ajo.13853. Online ahead of print.

ABSTRACT

BACKGROUND: During the COVID-19 pandemic, mitigation measures were associated with a reduction in preterm birth rates; while not clearly proven, this observation has sparked significant interest.

AIM: To understand the cause of this reduction by exploring the characteristics of preterm birth cohorts.

MATERIAL AND METHODS: We performed a retrospective cohort study where we compared women who delivered preterm in three Melbourne maternity hospitals and conceived between November 2019 and February 2020 (mitigation measures-exposed cohort) to women who delivered preterm and conceived between November 2018 and February 2019 (non-exposed cohort). We compared maternal characteristics, pregnancy complications, antenatal interventions, intrapartum care, and indications for delivery.

RESULTS: In the exposed cohort, 252/3129 women delivered preterm (8.1%), vs 298/3154 (9.4%) in the non-exposed cohort (odds ratio (OR) 0.84, 95% CI 0.70-1.00, P = 0.051). The baseline characteristic of two cohorts were comparable. Rates of spontaneous preterm labour (sPTL) without preterm pre-labour rupture of membranes (PPROM) were lower in the exposed cohort (13.1% vs 24.2%, OR 0.47, P = 0.001) while PPROM occurred more often (48.0% vs 35.6%, OR 1.67, P = 0.003). With a non-statistically significant prolongation of pregnancy in the cohort exposed to mitigation measures for both sPTL without PPROM (35.4 vs 34.9 weeks, P = 0.703) and PPROM (35.6 vs 34.9 weeks, P = 0.184). The rate of spontaneous labour after PPROM was higher in the exposed cohort compared to the non-exposed cohort (40.1% vs 24.1%, OR 2.09, P < 0.001).

CONCLUSION: The reduction in preterm delivery during mitigation measures may have been driven by a reduction in spontaneous labour without PPROM, which seemed to result in more PPROM later in pregnancy.

PMID:38943364 | DOI:10.1111/ajo.13853

Nucleic Acids Res. 2024 Jun 29:gkae550. doi: 10.1093/nar/gkae550. Online ahead of print.

ABSTRACT

Classification of introns, which is crucial to understanding their evolution and splicing, has historically been binary and has resulted in the naming of major and minor introns that are spliced by their namesake spliceosome. However, a broad range of intron consensus sequences exist, leading us to here reclassify introns as minor, minor-like, hybrid, major-like, major and non-canonical introns in 263 species across six eukaryotic supergroups. Through intron orthology analysis, we discovered that minor-like introns are a transitory node for intron conversion across evolution. Despite close resemblance of their consensus sequences to minor introns, these introns possess an AG dinucleotide at the -1 and -2 position of the 5′ splice site, a salient feature of major introns. Through combined analysis of CoLa-seq, CLIP-seq for major and minor spliceosome components, and RNAseq from samples in which the minor spliceosome is inhibited we found that minor-like introns are also an intermediate class from a splicing mechanism perspective. Importantly, this analysis has provided insight into the sequence elements that have evolved to make minor-like introns amenable to recognition by both minor and major spliceosome components. We hope that this revised intron classification provides a new framework to study intron evolution and splicing.

PMID:38943346 | DOI:10.1093/nar/gkae550

Helicobacter. 2024 May-Jun;29(3):e13107. doi: 10.1111/hel.13107.

ABSTRACT

BACKGROUND: The “hygiene hypothesis” states that reduced exposure to microbial antigens due to an excessively hygienic environment can increase the risk of developing autoimmune diseases, including atopic disorders and asthma. In recent decades, there has been a progressive decline in the prevalence of numerous microorganisms following improved hygienic-sanitary conditions. More specifically, several studies reported an inverse association between the reduction in Helicobacter pylori infection and the rise of asthma and allergic disorders.

AIM: To evaluate the prevalence of atopic disorders in a pediatric population in relation to seropositivity against H. pylori.

METHODS: Children from Northern Sardinia, Italy, referred to the local Children’s Hospital for any reason, were investigated to identify risk factors, especially H. pylori infection, associated with atopic disorders. A validated questionnaire, including demographics, house size, history of breastfeeding, residence, school or daycare center attendance, exposure to animals, and a defined diagnosis of atopy-including asthma-was filled out by a trained pediatrician according to parents’ answers and child records. A blood sample was collected from each participant and immunoglobulin G against H. pylori was assessed by a locally validated ELISA test.

RESULTS: The seroprevalence of H. pylori infection was 11.7% among 492 children (240 females). Thirty-two children had a confirmed diagnosis of asthma and 12 of allergy. No one child showed both conditions. Statistically significant differences in H. pylori seropositivity were not detected between children with or without atopy (8.4% vs. 12.6; p = 0.233). Although atopic disorders were more frequent in children exposed to traditional atopic risk factors, none of them showed to be significant after adjusting for all covariates.

CONCLUSIONS: Serologically assessed H. pylori infection was not significantly associated with a reduced risk of atopic diseases in children.

PMID:38943311 | DOI:10.1111/hel.13107

Niger J Clin Pract. 2024 Jun 1;27(6):774-778. doi: 10.4103/njcp.njcp_889_23. Epub 2024 Jun 29.

ABSTRACT

BACKGROUND: Apically extruded debris can be affected by some features of the file systems such as kinematics or metallurgic properties.

AIMS: This in vitro study aimed to evaluate the effect of movement kinematics (reciprocation or rotation) and heat-treated alloys (C.Wire) on the amount of debris extrusion.

METHODS: Seventy-two mesiobuccal root canals were assigned into three experimental groups related to the single-file system used (n = 24): two rotational; One Shape (Conventional Ni-Ti), One Curve (C.Wire), and one reciprocating; and One Reci (C.Wire). The file systems were used according to the advisable speed and torque according to the manufacturers’ suggestion. The weight of debris was calculated by subtracting the preweights from postweights of Eppendorf tubes. Kruskall-Wallis and Mann-Whitney U tests were used to analyze the data (P = 0.05).

RESULTS: One Shape produced the greatest amount of extruded debris compared with One Curve (P < 0.001) and One Reci (P < 0.001), respectively. No statistical difference was found between One Curve and One Reci concerning amount of apical debris extrusion (P = 0.489).

CONCLUSION: Metallurgical properties of files may affect apical debris extrusion. Alloy type is an important factor in the amount of debris extrusion. File kinematics does not affect apical debris extrusion.

PMID:38943303 | DOI:10.4103/njcp.njcp_889_23

Niger J Clin Pract. 2024 Jun 1;27(6):759-765. doi: 10.4103/njcp.njcp_862_23. Epub 2024 Jun 29.

ABSTRACT

OBJECTIVES: This study aims to assess the diagnostic accuracy of an artificial intelligence (AI) system employing deep learning for identifying dental plaque, utilizing a dataset comprising photographs of permanent teeth.

MATERIALS AND METHODS: In this study, photographs of 168 teeth belonging to 20 patients aged between 10 and 15 years, who met our criteria, were included. Intraoral photographs were taken of the patients in two stages, before and after the application of the plaque staining agent. To train the AI system to identify plaque on teeth with dental plaque that is not discolored, plaque and teeth were marked on photos with exposed dental plaque. One hundred forty teeth were used to construct the training group, while 28 teeth were used to create the test group. Another dentist reviewed images of teeth with dental plaque that was not discolored, and the effectiveness of AI in detecting plaque was evaluated using pertinent performance indicators. To compare the AI model and the dentist’s evaluation outcomes, the mean intersection over union (IoU) values were evaluated by the Wilcoxon test.

RESULTS: The AI system showed higher performance in our study with a precision of 82% accuracy, 84% sensitivity, 83% F1 score, 87% accuracy, and 89% specificity in plaque detection. The area under the curve (AUC) value was found to be 0.922, and the IoU value was 76%. Subsequently, the dentist’s plaque diagnosis performance was also evaluated. The IoU value was 0.71, and the AUC was 0.833. The AI model showed statistically significantly higher performance than the dentist (P < 0.05).

CONCLUSIONS: The AI algorithm that we developed has achieved promising results and demonstrated clinically acceptable performance in detecting dental plaque compared to a dentist.

PMID:38943301 | DOI:10.4103/njcp.njcp_862_23

Niger J Clin Pract. 2024 Jun 1;27(6):754-758. doi: 10.4103/njcp.njcp_802_23. Epub 2024 Jun 29.

ABSTRACT

BACKGROUND: The creation of pneumoperitoneum using higher pressure is believed to be associated with increased postoperative abdominal pain.

AIM: This study aimed to compare postoperative abdominal pain following low pressure laparoscopic appendectomy and standard pressure laparoscopic appendectomy.

METHODS: This was a prospective, double-blind, randomized controlled trial of 54 patients aged between 18 and 56 years with clinical and/or radiologic diagnosis of acute appendicitis. The patients were randomly allocated to two groups: low pressure laparoscopic appendectomy (n = 26) and standard pressure laparoscopic appendectomy (n = 28). The intra-abdominal pressure was kept in either low pressure (9 mm Hg) or standard pressure (13 mm Hg). Abdominal and shoulder pain scores were assessed using the visual analog scale at 6 hours and 3 days post procedure. Postoperative analgesia requirement, duration of surgery, complications, and hospital stay were recorded.

RESULTS: Both groups match for the demographic parameters. Three patients required conversion from low to standard pressure. There was no difference between the two groups in terms of abdominal pain (P = 0.86) and shoulder pain (P = 0.33), duration of surgery (P = 0.51), complications (P = 0.17), and length of hospital stay (P = 0.83).

CONCLUSION: The use of low pressure pneumoperitoneum did not reduce the incidence of abdominal pain in patients who had laparoscopic appendectomy. Patients with acute appendicitis can be treated with either low or normal pressure pneumoperitoneum depending on the experience of the surgeon.

PMID:38943300 | DOI:10.4103/njcp.njcp_802_23

Niger J Clin Pract. 2024 Jun 1;27(6):723-731. doi: 10.4103/njcp.njcp_708_23. Epub 2024 Jun 29.

ABSTRACT

BACKGROUND: Studies have been conducted to evaluate changes in hemodynamics, postoperative bleeding, and pain in pediatric dental patients receiving general anesthesia (GA). However, a limited number of studies have evaluated the effects of local anesthetics (LA) on tooth extraction procedures during GA. There is no consensus in the literature regarding LA application in the perioperative period for dental treatments performed within the scope of GA.

AIM: This study aimed to determine the retrospective physiologic effects of fluctuations in vital signs and postoperative bleeding in children who did or did not receive LA for tooth extraction under GA.

METHODS: A retrospective evaluation of 77 patients aged 5.16 ± 1.85 years who had the extraction of primary posterior teeth with or without LA under GA were reviewed in the post-anaesthesia care unit (PACU) for postoperative bleeding and the effects of intraoperative LA on fluctuations in postoperative parameters such as mean arterial pressure (MAP), heart rate (HR), peripheral oxygen saturation (SpO2), respiratory rate (RR), and the end-tidal carbon dioxide (EtCO2). These were compiled from the patient records of the procedures.

RESULTS: Significant differences between the baseline and peak MAP (P < 0.001), HR (P = 0.011), and EtCO2 (P = 0.002) were noted in children without LA compared to those who had LA. In addition, substantial variations were observed between the baseline and peak values for MAP (P < 0.001) and HR (P = 0.037) in children who had tooth extraction in the mandibular region. Statistically significant differences were noted between the baseline and peak values for patients who did not receive LA before the extraction of the first primary molar in terms of MAP (P < 0.02) and EtCO2 (P = 0.032). Similarly, significant differences in MAP (P < 0.02) and EtCO2 (P = 0.034) were noted in the extraction of the second primary molar. In addition, there was a significant difference in bleeding based on the number of tooth extractions in those who did not receive LA (P = 0.020).

CONCLUSION: This study showed that in children who underwent tooth extraction under GA, additional LA application minimized changes in HR, MAP, and EtCO2, whereas a lack of LA application produced significant fluctuations from baseline to peak values of HR, MAP, and EtCO2. In addition, LA application reduced postoperative bleeding.

PMID:38943296 | DOI:10.4103/njcp.njcp_708_23

Niger J Clin Pract. 2024 Jun 1;27(6):702-707. doi: 10.4103/njcp.njcp_449_23. Epub 2024 Jun 29.

ABSTRACT

BACKGROUND: Antimicrobial stewardship is an important action plan for curbing the rising trend of antimicrobial resistance (AMR). Surveillance of antimicrobial use and consumption is needed as baseline data and for monitoring the impact of antimicrobial stewardship interventions. The survey was done to understand the burden of AMR, in view of establishing an antimicrobial stewardship program in our hospital.

METHODS: A point prevalence survey (PPS) of antimicrobial use and consumption was conducted on all inpatients admitted before 8.00 am on the days of the survey using a standardized questionnaire. The collected data were entered online into the Global PPS web-based application (www.global-pps.com), for analysis.

RESULT: Of the 178 patients admitted during the survey period, 50.6% were on one or more antimicrobial agents. All the patients in adult intensive care units were on antibiotics (100%), followed by neonatal intensive care units (83.3%), with the least being adult medical wards (39.4%). Beta-lactam antibiotics were the most frequently prescribed antimicrobial for various infections, especially skin and soft tissue infections, 41.3%, which were the most common diagnoses treated with antibiotics. The infection was mostly community-acquired (81.6%), of which 94.9% were treated empirically. There was no written guideline in existence.

CONCLUSION: The present study revealed a poor prescribing habit because of a high rate of empirical treatment. The need for antimicrobial stewardship cannot be overemphasized as it will help streamline and improve the prescribing pattern.

PMID:38943293 | DOI:10.4103/njcp.njcp_449_23