The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.

Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, availability of greater sets of omics data, and the need to continuously analyse them have led to the development of new AI platforms. AI continues to weave its way into the fabric of genetics with the potential to unlock new discoveries and enhance patient care. This technology is setting the stage for breakthroughs across various domains, including dysmorphology, rare hereditary diseases, cancers, clinical microbiomics, the investigation of zoonotic diseases, omics studies in all medical disciplines. AI's role in facilitating a deeper understanding of these areas heralds a new era of personalised medicine, where treatments and diagnoses are tailored to the individual's molecular features, offering a more precise approach to combating genetic or acquired disorders. The significance of these AI platforms is growing as they assist healthcare professionals in the diagnostic and treatment processes, marking a pivotal shift towards more informed, efficient, and effective medical practice. In this review, we will explore the range of AI tools available and show how they have become vital in various sectors of genomic research supporting clinical decisions.

(Un)making labor invisible: A syllabus.

From industrial psychology and occupational therapy to the laboratory bench and scenes of "heroic" fieldwork, there are important connections between the science of labor and the labor of science. Participants in the 2022 Gordon Cain Conference explored how greater attention to these connections might deepen historical understanding of what constitutes "science" and what counts as "labor." Our conversations circled around themes of vulnerability (of systems, individual bodies, historical testimony), affect (pertaining to historical actors and ourselves), and interdependence (e.g. across human groups, species, political boundaries, and time). For the members of this group, which grew out of a panel discussion, these themes and motivations coalesced around a topical focus on invisibility, which helped us to articulate - in the form of a co-created syllabus - research questions about science and labor from multiple angles pertaining to practice, archival preservation, and scholarly representation. This syllabus is organized into six thematic modules that aim to challenge and historicize the concept of invisible labor by facilitating comparisons across geographic, temporal, conceptual, and disciplinary boundaries. The goals of this collaborative syllabus, in sum, are manifold: we seek to facilitate more inclusive histories of science through critical engagement with "invisibility" and thereby promote a more expansive understanding of what constitutes scientific labor; to highlight the constitutive role of gendered labor practices in the scientific enterprise; to draw attention to interdependencies that make all forms of production (knowledge or material) possible; to elucidate systems of remuneration for scientific labor over the longue durée and through pointed comparisons; and, finally, to promote self-reflexivity about the methods we use to narrate the history of science and make sense of our own labors.

Ottoman plants, nature studies, and the attentiveness of translational labor.

Translations, whether in the form of text, illustration, or interpretive analysis, served knowledge-making in multiple ways. It offered a refuge, severed contexts, and concealed the various workers that created it. Over the course of the seventeenth century, European naturalists in Istanbul, such as Luigi Ferdinando Marsigli (1658-1730), procured illustrations of Ottoman nature as fundamental resources to identify, collect, and compare indigenous plants and newly bred varieties. Despite maintaining an actual mediation for cross-cultural interactions, these sources of virtual communication remain largely forgotten in modern scholarship. This article argues that this curious yet invisible corpus was not a nonagentive medium in an alienated leisure of a gentleman-scholar; instead, these illustrations were designed to call upon the viewer's constant attention in self-motivated scientific labor. Such handy tools responded and contributed to early modern scholars' modes of working, and in exchange they determined these sources' own function, position, and visibility - either as a by-product or as a derivative. It is therefore only when integrated into the labor history of science that the degrees of invisibility pertaining to both Ottoman nature studies and self-directed labor can come into a granular view.

Social awareness about psoriasis: Misconceptions, negative prejudices and discriminatory behavior.

Psoriasis patients experience negative attitudes and behaviors exhibited by people who have insufficient knowledge about psoriasis. In this study, the knowledge level of the society about psoriasis; people's attitudes toward such patients were investigated. A questionnaire that investigates the knowledge, attitudes, and behaviors related to psoriasis according to age, gender, and education levels was applied to the participants. About a quarter of participants in the study did not have any knowledge about psoriasis, 22.9% participants who thought that they knew about psoriasis believed that psoriasis was an infectious disease, 34.2% indicated that they were afraid of shaking hands with patients who had psoriasis, 45.4% did not wish to eat any food prepared by such patients, and 13.4% did not want to work with them in the same workplace. Female participants were more concerned that psoriasis was contagious (P = .030) than male participants, and they were more concerned about shaking hands (P = .022) and eating food prepared by psoriasis patients (P = .009). Both the psoriasis is little known and the level of knowledge of the participants who think they have knowledge about psoriasis was insufficient and prejudiced attitudes and behaviors are common in patients with psoriasis.

Examination of Patients' Regular Participation at an Obesity Center to Evaluate the Effects on Mental Status and Blood Parameters.

BACKGROUND: Obesity is the main cause of type 2 diabetes, coronary artery disease, musculoskeletal disorders, some cancers, and mental disorders, and many other diseases leading to mortality. The aim of this study was to determine the effects of participation in an obesity center on patient mental status and blood parameters within 3 months and to show the relationship of this participation with depression, anxiety, and other parameters. METHODS: This was a descriptive and cross-sectional study. Of 2,591 patients admitted to an obesity center between November 1, 2018 and November 1, 2019, 317 met the inclusion criteria. This study was a descriptive and cross-sectional study of the data from those 317 patients. RESULTS: Of the patients enrolled in the study, 90.5% were female and 9.5% were male. Weight, occupation, body mass index, body fat percentage, waist circumference, hip circumference, glycosylated hemoglobin (HbA1c), Beck Depression Scale, and Beck Anxiety Scale were important determinants in our univariate analyses associated with the regular receipt of center education. HbA1c (odds ratio, 1.661; 95% confidence interval, 1.140-2.421; P=0.008) was shown to be multivariate predictors of amount of participation in center education. CONCLUSION: These results support that regular participation in obesity center education has a positive effect on patients mental status, blood parameters, and anthropometric measurements. Thus, increasing the number of obesity centers is of great importance in treating obesity and improving obese patient mental status.

Microfluidic immobilized metal affinity chromatography based on Ti(IV)-decorated silica microspheres for purification of phosphoproteins.

A silica-based immobilized metal affinity chromatography (IMAC) sorbent with the morphological properties suitable for purification of large phosphorylated biomolecules was synthesized. The sorbent was designed in the form of monodisperse-porous silica microspheres, 5.3 µm in size, having bimodal pore size distribution with a large median pore size (40 nm) and high surface area (163 m2/g) decorated with Ti(IV) cations (i.e. Ti(IV)@THSPMP@SiO2 microspheres). The decoration of silica microspheres with Ti(IV) cations was made by using 3-(trihydroxysilyl)propyl methylphosphonate (THSPMP) as a bifunctiontional linker, by preserving their bimodal pore size distribution. The mesopores provided a large surface area for parking of adsorbed phosphoproteins as large phosphorylated biomolecules while the intraparticular transport of phosphoproteins was facilitated by the macropores providing a large median pore size. High equilibrium adsorption capacity and high desorption yield in the purification of phosphoproteins were obtained using Ti(IV)@THSPMP@SiO2 microspheres as the sorbent in batch- and microfluidic-IMAC systems. The phosphoproteins, α-casein and ß-casein were isolated from milk and human serum with almost quantitative yields and high purity in the batch IMAC system. The appropriate microcolumn permeability (3.66 × 10-14 m2) originating from its appropriate average diameter (5.3 µm), high porosity (0.948 cm3/g) and high surface area (163 m2/g) of Ti(IV)@THSPMP@SiO2 microspheres makes the synthesized sorbent a promising stationary phase for dynamic chromatography. Hence, a new phosphoprotein enrichment format, a microfluidic IMAC system was constructed and successfully operated for highly selective purification of phosphoproteins from non-fat milk as a complex sample. The microfluidic-IMAC system is a promising tool particularly for phosphoproteomic applications performed using samples in microliter or nanoliter scale, also involving an on-line connection of purification unit to LC-MS for the identification of large phosphorylated biomolecules enriched.

Evaluation of varenicline usage on ventricular repolarization after smoking cessation.

BACKGROUND: Varenicline, which is a selective partial agonist of the alpha4-beta2 nicotinic acetylcholine receptor, is used for the smoking cessation pharmacotherapy. Cardiovascular adverse effects have been reported after varenicline usage in patients who stop smoking. We investigated the effect of varenicline usage on ventricular repolarization after smoking cessation. METHODS: In this prospective cohort study, we evaluated the cardiac arrhythmic effects of varenicline by comparing smoking patients (n = 214) before and after varenicline usage. Varenicline administered patients were also compared to ex-smoker individuals (n = 50) who quit smoking without varenicline usage in terms of ventricular repolarization parameters. RESULTS: After calculated according to Fridericia's and Framingham's formulas, QTc intervals were significantly increased when patients compared before and after smoking cessation with varenicline (402.9 ± 24.5 ms vs. 409.1 ± 25.0 ms p < 0.001 and 376.5 ± 15.2 ms, vs. 380.6 ± 13.5 ms; p < 0.001, respectively). There was no arrhythmic event during the follow-up. The change in Tp-e and QTc following varenicline usage was negatively correlated with the smoking packet/year. (ρ: -0.443, p < 0.001 and ρ = -0.601, p < 0.001) CONCLUSION: Varenicline usage was demonstrated to prolong ventricular repolarization parameters similar to animal studies. Varenicline may have a role to predispose cardiac dysrhythmias after utilization in smoking cessation.

Predictors of In-Hospital Mortality in Patients With ST-Segment Elevation Myocardial Infarction Complicated With Cardiogenic Shock.

BACKGROUND: ST-segment elevation myocardial infarction (STEMI) complicated with cardiogenic shock (CS) remains as an unresolved condition causing high morbidity and mortality despite advances in medical treatment and coronary intervention procedures. In the current study, we evaluated the predictors of in-hospital mortality of STEMI complicated with CS. METHODS: In this retrospective study, we evaluated the predictive value of baseline characteristics, angiographic, echocardiographic and laboratory parameters on in-hospital mortality of 319 patients with STEMI complicated with CS who were treated with primary percutaneous coronary intervention. Patients were divided into two groups consisting of survivors and non-survivors during their index hospitalisation period. RESULTS: The mortality rate was found to be 61.3% in the study population. At multivariate analysis after adjustment for the parameters detected in univariate analysis, chronic renal failure, Thrombolysis In Myocardial Infarction (TIMI) post percutaneous coronary intervention (PCI) ≤2, plasma glucose and lactate level, blood urea nitrogen level, Tricuspid Annular Plane Systolic Excursion (TAPSE) and ejection fraction were independent predictors of in-hospital mortality. CONCLUSIONS: Apart from haemodynamic deterioration, angiographic, echocardiographic and laboratory parameters have an impact on in-hospital mortality in patients with STEMI complicated with CS.

Complementary and alternative medicine use amongst Turkish type 2 diabetic patients: A cross-sectional study.

BACKGROUND: There is a worldwide tendency in the use of complementary and alternative medicine (CAM). Type 2 diabetic patients' attitude towards CAM use differs depending on several patient characteristics. OBJECTIVE: To determine the awareness, knowledge and the frequency of CAM use; to determine the independent demographic characteristics making it more probable to use CAM in patients with type 2 diabetes mellitus (T2DM). METHODS: 400 patients with T2DM visiting outpatient diabetes education clinic in Turkey from September 2015 to June 2016 were included in this cross-sectional study. On the basis of patients' responses to our questionnaire interrogating the CAM use, all participants were divided into 2 groups: CAM users and non-users. The independent predictors of CAM use were determined after a multivariate analysis including the parameters with a p value <0.25 in univariate analysis. RESULTS: In our study the rate of CAM use was 36,7% (n = 147) and CAM use among female gender was significantly more frequent. HbA1c, fasting blood glucose, post-prandial blood glucose serum levels were significantly higher in CAM non-user group. (p < 0.001,p < 0.001 and p < 0.001 respectively). The independent predictive factors proved to be a determinant of CAM use were the age of 50-64 years, female gender and healthy eating habits. CONCLUSIONS: The use of CAM methods in the field of T2DM is growing. Our study reported the prevalence of CAM use, the baseline comparison of CAM users and non-users and demonstrated three independent notable predictors of CAM use among patients with T2DM.

Evaluation of Prevent ID and Quantum Blue rapid tests for fecal calprotectin.

BACKGROUND: Tests for fecal calprotectin are usually either enzyme-linked immunosorbent assays (ELISA) or a time-resolved fluorimetric immunoassay (TRFIA). These time-consuming tests are performed only once every 1 or 2 weeks. Before the results of the tests are known most patients have already undergone colonoscopy. A rapid test, performed on outpatients, could minimize the number of necessary colonoscopies. To establish optimal cut-off values minimizing the necessity for colonoscopies, we compared two commercially available rapid tests with a quantitative TRFIA. METHODS: Fecal samples were collected from 85 patients with lower gastrointestinal complaints. Calprotectin was measured using quantitative TRFIA as well as using two rapid tests: Prevent ID CalDetect and Quantum Blue calprotectin. We used the TRFIA method as the golden standard with a cut-off value of 50 µg/g. The percentage correct classification, sensitivity, specificity and positive and negative predictive value were calculated for both rapid tests at various cut-off levels. RESULTS: Correlation between both of the rapid tests with TRFIA was significant. Quantum Blue calprotectin (κ 0.77) correlated better than Prevent ID CalDetect (κ 0.46). Optimal cut-off levels for Prevent ID CalDetect and Quantum Blue calprotectin rapid tests were 15 µg/g and 40 µg/g with a reduction in the number of necessary colonoscopies of 39% and 62%, respectively. CONCLUSIONS: The Quantum Blue calprotectin rapid test demonstrated better analytical performance than the Prevent ID CalDetect in reducing the number of colonoscopies. Furthermore, the former test has the advantage of using a point of care reader for quantitative measurement and for establishing an optimal cut-off level.

School for health sciences university students' opinions about male nurses.

This study was conducted after the new nursing law was passed in Turkey in May 2007. According to the old nursing law in Turkey, only women could legally work as nurses. However, the new law made it possible for men to work as nurses as well. The researchers who conducted this study developed a survey for determining university nursing and midwifery students' opinions about the concept of a male nurse. No sampling method was used in this research, and the survey was administered to all students who came to school on the dates it was administered and agreed to participate voluntarily. A total of 331 students (88.7%) were administered the survey personally by the researchers. Of the participants in the study, 53.5% were in nursing and 46.5% were in midwifery schools. The majority (82.2%) of the students thought that nursing should be done by both genders, 74.0% thought that having male members of the profession would have a part in the advancement of the profession, 72.8% thought that male nurses should be admitted to schools, 61.3% thought that male nurses could give care to male and female patients, and 80.7% thought that they could work in harmony with male and female nurses. In general, the students at our university have a positive attitude toward male nurses.