J. Pers. Med., Volume 14, Issue 6 (June 2024) – 52 articles

Chronic kidney disease (CKD) is strongly associated with dementia. However, its independent association with Alzheimer’s or Parkinson’s disease remains unclear. This study investigated the prospective association of patients with CKD aged ≥55 years with an increased risk of Alzheimer’s or Parkinson’s disease. We conducted a retrospective cohort analysis using a national cohort sample of approximately one million patients. Primary outcome indicators measured included incidence of all-cause dementia, Alzheimer’s disease, and Parkinson’s disease events using person-years at risk. The hazard ratio was adjusted using the Cox proportional hazards model. We included 952 patients without CKD and 476 with CKD over 55 years using propensity score matching. The CKD group exhibited higher incidences of all-cause dementia, Parkinson’s disease, and Alzheimer’s disease than the non-CKD group. Furthermore, the CKD group had an elevated risk of all-cause dementia and a significantly increased risk of Parkinson’s disease, especially among older women. Notably, the risk of Parkinson’s disease was higher within the first 3 years of CKD diagnosis. These findings emphasize the link between CKD in mid- and late-life individuals and a higher incidence of all-cause dementia and Parkinson’s disease rather than Alzheimer’s disease. Full article

Background and objectives: To minimize stroke-related deaths and maximize the likelihood of cerebral reperfusion, medical professionals developed the “code stroke” emergency protocol, which allows for the prompt evaluation of patients with acute ischemic stroke symptoms in pre-hospital care and the emergency department (ED). This research will outline our experience in implementing the stroke code protocol for acute ischemic stroke patients and its impact on door-to-needle time (DTN) in the ED. Methods: Our study included patients with a “code stroke alert” upon arrival at the emergency department. The final sample of this study consisted of 258 patients eligible for intravenous (IV) thrombolysis with an onset-to-door time < 4.5 h. ED admissions were categorized into two distinct groups: “day shift” (from 8 a.m. to 8 p.m.) (n = 178) and “night shift” (from 8 p.m. to 8 a.m.) (n = 80) groups. Results: An analysis of ED time targets showed an increased median during the day shift for onset-to-ED door time of 310 min (IQR, 190–340 min), for door-to-physician (emergency medicine doctor) time of 5 min (IQR, 3–9 min), for door-to-physician (emergency medicine doctor) time of 5 min (IQR, 3–9 min), and for door-to-physician (neurologist) time of 7 min (IQR, 5–10 min), also during the day shift. During the night shift, an increased median was found for door-to-CT time of 21 min (IQR, 16.75–23 min), for door-to-CT results of 40 min (IQR, 38–43 min), and for door-to-needle time of 57.5 min (IQR, 46.25–60 min). Astonishingly, only 17.83% (n = 46) of these patients received intravenous thrombolysis, and the proportion of patients with thrombolysis was significantly higher during the night shift (p = 0.044). A logistic regression analysis considering the door-to-needle time (minutes) as the dependent variable demonstrated that onset-to-ED time (p < 0.001) and door-to-physician (emergency medicine physicians) time (p = 0.021) are predictors for performing thrombolysis in our study. Conclusions: This study identified higher door-to-CT and door-to-emergency medicine physician times associated with an increased DTN, highlighting further opportunities to improve acute stroke care in the emergency department. Further, door-to-CT and door-to-CT results showed statistically significant increases during the night shift. Full article

This study investigates the effects of a self-administered eye exercise (SEE) program on the balance and gait ability of chronic stroke patients hospitalized due to hemiplegia. This study includes 42 patients diagnosed with stroke-related hemiplegia and hospitalized at D Rehabilitation Hospital. The researcher randomly allocated 42 patients into two groups: the experimental group (EG, n = 21, mean age = 58.14 ± 7.69 years, mean BMI = 22.83 ± 2.19 kg/m²) and the control group (CG, n = 21, mean age = 58.57 ± 6.53 years, mean BMI = 22.81 ± 2.36 kg/m²). The SEE program was applied to the EG and the general self-administered exercise (SE) program was applied to the CG. After 4 weeks of intervention, weight distribution of the affected side, the Timed Up and Go test (TUG), step length of the affected side, step length of the unaffected side, gait speed, and cadence were analyzed and compared. In the within-group comparison, both groups showed significant differences in weight distribution (p < 0.05), TUG (p < 0.05), step length of the affected side (p < 0.05), step length of the unaffected side (p < 0.05), gait speed (p < 0.05), and cadence (p < 0.05). In the between-group comparison, a significant difference in the TUG (p < 0.05) was observed. The SEE program had an overall similar effect to the SE program in improving the balance and gait ability of chronic stroke patients, and had a greater effect on dynamic balance ability. Therefore, the SEE program can be proposed as a self-administered exercise program to improve balance and gait ability in stroke patients who are too weak to perform the SE program in a clinical environment or have a high risk of falling. Full article

Surgical resection is the key treatment for colorectal cancer, but the extent of surgical trauma has been implied as a key factor for the oncologic outcome. The immune stress response to surgical trauma generates a cascade of immunological events implying neutrophils’ perioperative change generating NETosis, N killer decrease, and platelets’ activation that may influence postoperative surgical outcome, tumor cell growth, and future oncogenesis. The present study aimed to investigate the correlation between intraoperative oxygen consumption (VO₂) and the dynamic variation of neutrophils, lymphocytes, and platelets in the perioperative period to identify an intraoperative tool that could predict the postoperative immune response. Twenty-six colorectal oncological surgical patients were enrolled in an observational, prospective, monocentric study, over 18 months. Serum neutrophils, lymphocytes, and thrombocytes values were collected in the preoperative period and on the third postoperative day, oxygen consumption was measured and recorded every 15 min during surgery using indirect calorimetry. We compared oxygen consumption measurements registered 30 min after induction of anesthesia (VO₂a) and the first value registered after abdominal wall closure (VO₂b) to perioperative variation of absolute neutrophils (VNC), lymphocytes (VLC), and platelets (VPC) count. Our results proved a significant correlation between VO₂ variation and neutrophils’ perioperative dynamic assessed by VNC (correlation coefficient = 0.547, p < 0.01, 95% confidence interval (CI) =0.175, 0.783). We also noticed a correlation between VPC and VO₂ (correlation coefficient = −0.603, p < 0.01, 95% CI = −0.815, −0.248). No correlation could be shown between VO2 and VLC variation (p = 0.39). In conclusion, intraoperative VO₂ variation measured by indirect calorimetry correlates well with perioperative neutrophils and platelets count dynamic variations and can be used as an early prognosis marker of postoperative immune response and surgical outcome in colorectal oncological surgery. Full article

Current United States Preventive Services Task Force (USPSTF) recommendations include routine screening for breast, cervical, colorectal, and lung cancer; however, two out of every three cancer cases occur in other indications, leading to diagnoses in advanced stages of the disease and a higher likelihood of mortality. Blood-based multi-cancer early detection (MCED) tests can impact cancer screening and early detection by monitoring for multiple different cancer types at once, including indications where screening is not performed routinely today. We conducted a survey amongst healthcare providers (HCPs), payers, and patients within the U.S. health system to understand the current utilization of cancer screening tests and the anticipated barriers to widespread adoption of blood-based MCED tests. The results indicated that the community favors the adoption of blood-based MCED tests and that there is broad agreement on the value proposition. Despite this recognition, the survey highlighted that there is limited use today due to the perceived lack of clinical accuracy and utility data, high out-of-pocket patient costs, and lack of payer coverage. To overcome the hurdles for future widespread adoption of blood-based MCED tests, increased investment in data generation, education, and implementation of logistical support for HCPs will be critical. Full article

Currently, there is no consensus on the characterization of the human voice. The objective of the present study is to describe the myoelectric behavior of the extrinsic musculature of the larynx in 146 people with normal voice (Spanish speakers), aged between 20 and 50 years old. Different vocal tasks were recorded using a surface electromyograph (SEMG). In all vocal tasks, it was observed that women had higher activation (µV) in the suprahyoid and sternocleidomastoid muscles than men, while men had higher activation in the infrahyoid muscles. SEMG is a valid procedure to help define normal vocal characteristics in the studied population, providing reference values during clinical examination. However, it is necessary to adopt a universal system of assessment tasks and standardized measurement techniques to allow for comparisons with future studies. Full article

Background: stress hyperglicemia (SH) is common in patients with ST-elevation myocardial infraction (STEMI). The aims of this study were to analyze the impact of SH on the incidence of all-cause mortality and major adverse cardiovascular events (MACE-cardiovascular death, nonfatal reinfarction, target vessel revascularization, and stroke) in STEMI patients without diabetes mellitus (DM) who have been treated successfully with primary PCI (pPCI). Method: we analyzed 2362 STEMI patients treated with successful pPCI (post-procedural flow TIMI = 3) and without DM and cardiogenic shock at admission. Stress hyperglycemia was defined as plasma glucose level above 7.8 mmol/L at admission. The follow-up period was 8 years. Results: incidence of SH was 26.9%. Eight-year all-cause mortality and MACE rates were significantly higher in patients with SH, as compared to patients without SH (9.7% vs. 4.2%, p < 0.001, and 15.7% vs. 9.4%, p < 0.001). SH was an independent predictor of short- and long-term all-cause mortality (HR 2.19, 95%CI 1.16–4.18, and HR 1.99, 95%CI 1.03–3.85) and MACE (HR 1.49, 95%CI 1.03–2.03, and HR 1.35, 95%CI 1.03–1.89). Conclusion: despite successful revascularization, SH at admission was an independent predictor of short-term and long-term (up to eight years) all-cause mortality and MACE, but its negative prognostic impact was stronger in short-term follow-up. Full article

The Emergency Department (ED) is a facility meant to treat patients in need of medical assistance. The choice of triage system hugely impactsed the organization of any given ED and it is important to analyze them for their effectiveness. The goal of this review is to briefly describe selected triage systems in an attempt to find the perfect one. Papers published in PubMed from 1990 to 2022 were reviewed. The following terms were used for comparison: “ED” and “triage system”. The papers contained data on the design and function of the triage system, its validation, and its performance. After studies comparing the distinct means of patient selection were reviewed, they were meant to be classified as either flawed or non-ideal. The validity of all the comparable segregation systems was similar. A possible solution would be to search for a new, measurable parameter for a more accurate risk estimation, which could be a game changer in terms of triage assessment. The dynamic development of artificial intelligence (AI) technologies has recently been observed. The authors of this study believe that the future segregation system should be a combination of the experience and intuition of trained healthcare professionals and modern technology (artificial intelligence). Full article

Total knee arthroplasty (TKA) is a gold standard surgical procedure to improve pain and restore function in patients affected by moderate-to-severe severe gonarthrosis refractory to conservative treatments. Indeed, millions of these procedures are conducted yearly worldwide, with their number expected to increase in an ageing and more demanding population. Despite the progress that has been made in optimizing surgical techniques, prosthetic designs, and durability, up to 20% of patients are dissatisfied by the procedure or still report knee pain. From this perspective, the introduction of robotic TKA (R-TKA) in the late 1990s represented a valuable instrument in performing more accurate bone cuts and improving clinical outcomes. On the other hand, prolonged operative time, increased complications, and high costs of the devices slow down the diffusion of R-TKA. The advent of newer technological devices, including those using navigation systems, has made robotic surgery in the operatory room more common since the last decade. At present, many different robots are available, representing promising solutions to avoid persistent knee pain after TKA. We hereby describe their functionality, analyze potential benefits, and hint at future perspectives in this promising field. Full article

Rolando Toro’s Biodanza (SRT) is a therapeutic strategy that uses movement, music, and emotions to induce integrative living experiences. The present study aims to explore the efficacy of a three-month SRT intervention on motor, cognitive, and behavioral symptoms in patients with Parkinson’s disease (PD). This study employed a randomized between-group design. Twenty-eight non-demented PD patients were enrolled in this study. Out of these, fourteen patients were assigned to the active treatment group using the Biodanza SRT system and fourteen to the untreated control group. The study group attended 2 h SRT classes once a week, completing twelve lessons in twelve weeks. All patients underwent: (i) a neurological examination to measure the severity of motor symptoms, balance, mobility, and risk of falls, and (ii) a neuropsychological battery to assess cognitive status, apathy, depressive symptomatology, and perceived quality of life (QoL), at study entry (T0) and at twelve weeks (T1, end of dance training). At T1, we observed a significant improvement in motor (i.e., severity of motor symptoms and balance) and cognitive parameters (i.e., working memory and delayed verbal memory) in all treated patients compared with the controls. Furthermore, a significant improvement in the social support dimension was found in all treated patients compared to the controls. A trend toward increased apathy was found in untreated patients at T1. The three-month Biodanza intervention significantly ameliorated the motor parameters of PD patients, with a parallel improvement in cognitive and QoL status. Hence, Biodanza intervention can, in the short term, represent a useful personalized medical intervention for the management of Parkinson’s disease. Full article

This study developed and validated a machine learning model to accurately predict acute kidney injury (AKI) after non-cardiac surgery, aiming to improve patient outcomes by assessing its clinical feasibility and generalizability. We conducted a retrospective cohort study using data from 76,032 adults who underwent non-cardiac surgery at a single tertiary medical center between March 2019 and February 2021, and used data from 5512 patients from the VitalDB open dataset for external model validation. The predictive variables for model training consisted of demographic, preoperative laboratory, and intraoperative data, including calculated statistical values such as the minimum, maximum, and mean intraoperative blood pressure. When predicting postoperative AKI, our gradient boosting machine model incorporating all the variables achieved the best results, with AUROC values of 0.868 and 0.757 for the internal and external validations using the VitalDB dataset, respectively. The model using intraoperative data performed best in internal validation, while the model with preoperative data excelled in external validation. In this study, we developed a predictive model for postoperative AKI in adult patients undergoing non-cardiac surgery using preoperative and intraoperative data, and external validation demonstrated the efficacy of open datasets for generalization in medical artificial modeling research. Full article

The term dystocia refers to labor characterized by a slow progression with delayed rates or even pauses in the dilation of the cervix or the descent of the fetus. Dystocia describes the deviation from the limits that define a normal birth and is often used as a synonym for the term pathological birth. Shoulder dystocia, also known as the manual exit of the shoulders during vaginal delivery on cephalic presentation, is defined as the “failure of the shoulders to spontaneously traverse the pelvis after delivery of the fetal head”. This means that obstetric interventions are necessary to deliver the fetus’s body after the head has been delivered, as gentle traction has failed. Abnormal labor (dystocia) is expressed and represented in partograms or by the prolongation of the latent phase or by slowing and pausing in the phases of cervical dilatation and fetal descent. While partograms are helpful in visualizing the progress of labor, regular use of them has not been shown to enhance obstetric outcomes considerably, and no partogram has been shown to be superior to others in comparative trials. Dystocia can, therefore, appear in any phase of the evolution of childbirth, so it is necessary to simultaneously assess all the factors that may contribute to its abnormal evolution, that is, the forces exerted, the weight, the shape, the presentation and position of the fetus, the integrity and morphology of the pelvis, and its relation to the fetus. When this complication occurs, it can result in an increased incidence of maternal morbidity, as well as an increased incidence of neonatal morbidity and mortality. Although several risk factors are associated with shoulder dystocia, it has proven impossible to recognize individual cases of shoulder dystocia in practice before they occur during labor. Various guidelines have been published for the management of shoulder dystocia, with the primary goal of educating the obstetrician and midwife on the importance of a preplanned sequence of maneuvers, thereby reducing maternal and neonatal morbidity and mortality. Full article

Purpose: Addressing trapezio-metacarpal (TMC) osteoarthritis often involves considering TMC joint replacement. Utilizing TMC prostheses offers advantages such as preserving the thumb length and more accurately replicating the thumb’s range of motion (ROM). TMC prostheses have an intrinsic risk of dislocation and aseptic loosening. Analyzing pre- and postoperative imaging can mitigate complications and improve prosthetic placement, providing insights into both successes and potential challenges, refining overall clinical outcomes. Materials and methods: We conducted a prospective analysis of 30 patients with severe TMC arthritis treated with a Touch© (Kerimedical, Geneva, Switzerland) prosthesis in 2021–2023: X-ray and CT protocols were developed to analyze A) the correct prosthesis placement and B) its correlation with clinical outcomes (VAS, Kapandji and QuickDASH scores) by performing Spearman correlation analysis. Results: The average differences in trapezium height and M1-M2 ratio pre- and post-surgery were, respectively, 1.8 mm (SD ± 1.7; p < 0.001) and 0.04 mm (SD ± 0.04; p = 0.017). Pre-to-postoperative M1 axis length increased by an average of 2.98 mm (SD ± 3.84; p = 0.017). Trapezial cup sinking, indicated by the trapezium index, measured 4.6 mm (SD ± 1.2). The metacarpal index averaged at 11.3 mm (SD ± 3.3). The distance between the centers of the trapezium distal surface and the prosthesis cup was 2.23 mm (SD ± 1.4). The Spearman correlation analysis gave the following results: negative correlations were highlighted between postoperative VAS scores and the M1/M2 ratio and residual trapezium height (correlation coefficient: −0.7, p = 0.03 and −0.064, p = 0.03, respectively) at 6 months; a negative correlation was found at the 3-month mark between QuickDASH and the trapezium residual height (correlation coefficient: −0.07, p = 0.01); and a positive correlation was found for the trapezium index at 1 month (correlation coefficient: 0.07, p = 0.03) and 3 months (p = 0.04) using the Kapandji score. Similarly, we found a positive correlation between the distance between the prosthesis and trapezium centers and QuickDASH score at 1 and 3 months (correlation coefficient: 0.066, p = 0.03; correlation coefficient: 0.07, p = 0.05, respectively) and a positive correlation between prosthesis axis and the residual first metacarpal angle with QuickDASH score at 3 months (correlation coefficient: 0.07, p = 0.02). Conclusions: Pre- and postoperative systematic imaging analysis should become a method for predicting complications and guiding recovery in TMC prosthesis: CT imaging could provide us with radiographical landmarks that are intrinsically linked to clinical outcomes. Further research is necessary to fuel a protocol for the correct intraoperative TMC prosthesis implantation. Full article

Background/Objectives: BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patients from five families with multiple cancers who coinherited a combination of PVs in these genes. Methods: PVs were identified using NGS DNA sequencing and were confirmed by Sanger. Results: Families 1, 2, and 3 presented PVs in BRCA2 and ATM, family 4 in BRCA2 and BRCA1, and family 5 in BRCA2 and CHEK2. PVs were identified using NGS DNA sequencing and were confirmed by Sanger. The first family included patients with kidney, prostate, and breast cancer, in addition to pancreatic adenocarcinomas. In the second family, a female had breast cancer, while a male from the third family had prostate, gastric, and pancreatic cancer. The fourth family included a male with pancreatic cancer, and the fifth family a female with breast cancer. Conclusions: The early age of diagnosis and the development of multiple cancers in the reported patients indicate a very high risk of cancer in double-heterozygous patients associated with PVs in HR-related CPGs. Therefore, in families with patients who differ from other family members in terms of phenotype, age of diagnosis, or type of cancer, the cascade testing needs to include the study of other CPGs. Full article

Red hair has been linked to altered sensitivity to pain, analgesics, and hypnotics. This alteration may be impacted by variants in the melanocortin-1 receptor (MC1R) gene, which are mainly found in redheads. The aim of this narrative review was to explore and present the current state of knowledge on red hair and its plausible associations with altered responsiveness to pain, analgesics, and hypnotics. Structured searches in the PubMed, CINAHL Complete, and Scopus electronic databases were conducted. Evidence suggests that women with red hair have an increased sensitivity to pain. Conversely, data also indicate a higher pain tolerance in homozygous carriers of MC1R variant alleles. Varied responses to analgesia have been reported, with both increased analgesic responsiveness in homozygous carriers of MC1R variant alleles and less analgesia in redheads. Data indicate an increased need for hypnotics in redheads. However, failed attempts to find statistical associations between red hair and altered responsiveness to hypnotics are also evident. Even though there seems to be an association between red hair and an altered responsiveness to pain, analgesics, and/or hypnotics, the results of this narrative review are inconclusive. Further research studies with larger populations and MC1R testing are needed. Full article

Background: In ACL reconstruction, it is desirable to assess preoperatively whether a sufficient graft diameter can be achieved with the planned tendon graft. The present study investigated the effect of the location of the cross-sectional area (CSA) measurement of the hamstring tendons in preoperative MRI on the correlation of the CSA with the intraoperative graft diameter. In addition, we analyzed whether the measurement results of examiners with different skill levels were comparable. Methods: A total of 32 subjects undergoing a single bundle ACL reconstruction using an autologous ipsilateral quadrupled hamstring graft (STGT) were included. The CSA of the semitendinosus and gracilis tendon was determined in preoperative MRI on six defined levels by three examiners. The intraclass correlation coefficient between the measurements of these observers was determined. The correlation between the sum of the CSA of both tendons (CSA STGT) and the graft diameter was investigated. Results: The interrater reliability was excellent on most of the investigated levels. A significant correlation between CSA STGT and the graft diameter was seen on all levels. The strongest correlation was found on the level 10 mm above the joint line. Conclusions: The measurement of the CSA STGT in the preoperative MRI 10 mm above the joint line enabled a good assessment of the achievable graft diameter in ACL reconstruction, independent of the examiners’ training level. Full article

In this retrospective case series, we investigate the synergistic effect and the immunomodulatory potential of combination radiotherapy and immunotherapy on 11 patients affected by locally advanced or metastatic cutaneous squamous cell carcinoma (CSCC), treated at our institution between 2020 and 2023. The primary endpoints of this study are objective tumor response, assessed by Immunotherapy Response Evaluation Criteria in Solid Tumors (iRECIST), and time to treatment failure (disease progression). In all patients, surgery was deemed not amenable, due to its potential functional and aesthetic impact. Therefore, upon multidisciplinary agreement, radiotherapy and immunotherapy with cemiplimab were alternatively administered. After 6 months, an early objective tumor response was observed in 9/11 patients, with 17/20 cutaneous lesions (85%) presenting either a complete or partial response. Only 2/11 patients, with a total of 3/20 cutaneous lesions (15%), had stable disease. These benefits persisted at a longer follow-up (21.4 ± 9.7 months), with no patients presenting disease progression. Despite the retrospective nature of this study and small sample size, our experience highlights the ability of concomitant radiotherapy and cemiplimab to promote an early objective response in patients with advanced CSCC. Moreover, in our population, the clinical benefits were also related to a longer progression-free survival, without any safety alert reported. Full article

Acute severe ulcerative colitis (ASUC) is a life-threatening medical emergency with considerable morbidity. Despite recent advances in medical IBD therapy, colectomy rates for ASUC remain high. A scoping review of published articles on ASUC was performed. We collected data, such as general information of the disease, diagnosis and initial assessment, and available medical and surgical treatments focusing on technical aspects of surgical approaches. The most relevant articles were considered in this scoping review. The management of ASUC is challenging; currently, personalized treatment for it is unavailable. Sequential medical therapy should be administrated, preferably in high-volume IBD centers with close patient monitoring and indication for surgery in those cases with persistent symptoms despite medical treatment, complications, and clinical worsening. A total colectomy with end ileostomy is typically performed in the acute setting. Managing rectal stump is challenging, and all individual and technical aspects should be considered. Conversely, when performing elective colectomy for ASUC, a staged surgical procedure is usually preferred, thus optimizing the patients’ status preoperatively and minimizing postoperative complications. The minimally invasive approach should be selected whenever technically feasible. Robotic versus laparoscopic ileal pouch–anal anastomosis (IPAA) has shown similar outcomes in terms of safety and postoperative morbidity. The transanal approach to ileal pouch–anal anastomosis (Ta-IPAA) is a recent technique for creating an ileal pouch–anal anastomosis via a transanal route. Early experiences suggest comparable short- and medium-term functional results of the transanal technique to those of traditional approaches. However, there is a need for additional comparative outcomes data and a better understanding of the ideal training and implementation pathways for this procedure. This manuscript predominantly explores the surgical treatment of ASUC. Additionally, it provides an overview of currently available medical treatment options that the surgeon should reasonably consider in a multidisciplinary setting. Full article

COVID-19 is a systemic disease caused by the etiologic agent SARS-CoV-2, first reported in Hubei Province in Wuhan, China, in late 2019. The SARS-CoV-2 virus has evolved over time with distinct transmissibility subvariants from ancestral lineages. The clinical manifestations of the disease vary according to their severity and can range from asymptomatic to severe. Due to the rapid evolution to a pandemic, epidemiological studies have become essential to understand and effectively combat COVID-19, as the incidence and mortality of this disease vary between territories and populations. This study correlated epidemiological data on the incidence and mortality of COVID-19 with frequencies of important SNPs in GWAS studies associated with the susceptibility and mortality of this disease in different populations. Our results indicated significant correlations for 11 genetic variants (rs117169628, rs2547438, rs2271616, rs12610495, rs12046291, rs35705950, rs2176724, rs10774671, rs1073165, rs4804803 and rs7528026). Of these 11 variants, 7 (rs12046291, rs117169628, rs1073165, rs2547438, rs2271616, rs12610495 and rs35705950) were positively correlated with the incidence rate, these variants were more frequent in EUR populations, suggesting that this population is more susceptible to COVID-19. The rs2176724 variant was inversely related to incidence rates; therefore, the higher the frequency of the allele is, the lower the incidence rate. This variant was more frequent in the AFR population, which suggests a protective factor against SARS-CoV-2 infection in this population. The variants rs10774671, rs4804803, and rs7528026 showed a significant relationship with mortality rates. SNPs rs10774671 and rs4804803 were inversely related to mortality rates and are more frequently present in the AFR population. The rs7528026 variant, which is more frequent in the AMR population, was positively related to mortality rates. The study has the potential to identify and correlate the genetic profile with epidemiological data, identify populations that are more susceptible to severe forms of COVID-19, and relate them to incidence and mortality. Full article

Age-related sleep disorders share common pathways with sarcopenia. Prospective data from Latin American populations are scarce, and the association between sleep disorders and sarcopenia in Chileans remains unknown. Thus, we aimed to study the longitudinal association between sleep disorders and sarcopenia in a cohort study of 1116 community-dwelling Chilean older people ≥60 years old from the ALEXANDROS cohorts. After the exclusion criteria, 318 subjects were followed. Sociodemographic data, self-reported chronic diseases, sedentarism, sleep characteristics, anthropometric measurements, handgrip strength, and muscle performance were assessed. Results indicated that at baseline, the prevalence of sarcopenia was 24.10% without gender differences, and the prevalence of self-reported sleep problems was 23.3%, higher in women (26.46% versus 17.15% in men). The adjusted Cox regression models for sarcopenia showed an association between sarcopenia, sleep disorders (HR = 2.08, 95% IC 1.14–3.80), and long sleep duration (HR = 2.42, 95% IC 1.20–4.91). After 8.24 years of follow-up, there were 2.2 cases of sarcopenia per 100 person-years. This study demonstrates that sleep disorders are an independent risk factor for sarcopenia in Chilean older people. The identification of sleep disorders through self-reported data provides an opportunity for early identification of risk and cost-effective sarcopenia prevention. Full article

Transcranial direct current stimulation (tDCS) is emerging as a promising non-invasive intervention for tinnitus by aiming to modulate abnormal brain activity. This study investigated the efficacy of dual-session tDCS for the relief of perception, distress, and loudness in patients with severe chronic subjective tinnitus and assessed the duration of tinnitus suppression effects compared to single-session and control groups over a 2-month follow-up. In a prospective, randomized, single-blind, placebo-controlled trial, 30 participants with severe chronic subjective tinnitus underwent bifrontal tDCS. The control group (n = 9), single-session group (n = 10), and dual-session group (n = 11) received 2 mA stimulation for 20 min per session, twice a week for one month. The treatment response was monitored weekly using the Visual Analogue Scale (VAS), with additional assessments using the Tinnitus Handicap Inventory (THI) and Beck Depression Inventory (BDI) at the fourth and eighth weeks. The single- and dual-session groups showed statistically significant improvements in VAS, THI, and BDI scores compared to the control group. THI and BDI scores showed a significant difference between the single- and dual-session groups. The dual-session group demonstrated a more sustained tinnitus suppression effect than the single-session group. tDCS has been validated as an effective intervention for the suppression of tinnitus, with the dual-session protocol showing longer-term benefits. These findings support the potential of tDCS as a treatment for tinnitus, particularly in dual-session applications. Full article

We investigated the type of blood component transfusion associated with increased postoperative delirium. Adult patients who underwent total knee arthroplasty (TKA) or total hip arthroplasty (THA) between 2017 and 2022 were included. Delirium was evaluated and treated within two days after surgery. A total of 6737 patients (4112 TKA/2625 THA) were retrospectively studied; 2.48% of patients in the TKA (n = 102) and THA (n = 65) groups had postoperative delirium. The blood transfusion (BT) and non-BT groups had similar percentages of patients who experienced postoperative delirium (3.34 vs. 2.35%, p = 0.080). In the multivariable logistic regression model, BT was not associated with postoperative delirium—adjusted odds ratio (aOR): 1.03, confidence interval (CI): 0.62, 1.71; p = 0.917. Moreover, transfusion of packed red blood cells (p = 0.651), platelets (p = 0.998), and cryoprecipitate (p = 0.999) were not associated with delirium. However, transfusion of fresh frozen plasma was associated with a 5.96-fold higher incidence of delirium—aOR: 5.96, 95% CI: 2.72, 13.04; p < 0.001. In conclusion, perioperative BT was not associated with postoperative delirium in patients who underwent TKA or THA. However, FFP transfusion was associated with an increased incidence of postoperative delirium. Full article

Lynch syndrome (LS) is an inherited cancer predisposition disorder associated with an elevated risk of developing various solid cancers, but mostly colorectal cancer (CRC). Despite having the same germline pathogenic variant (PV) in one of the mis-match repair genes or the EPCAM gene, Lynch syndrome variant heterozygotes (LSVH) exhibit a remarkable phenotypic variability in the risk of developing cancer. The role of human leukocyte antigen (HLA) in modifying cancer development risk prompted our hypothesis into whether HLA variations act as potential genetic modifiers influencing the age at cancer diagnosis in LSVH. To investigate this, we studied a unique cohort of 426 LSVH carrying the same germline PV in the hMLH1 gene (MLH1:c.1528C > T) in South Africa. We intuitively selected 100 LSVH with the greatest diversity in age at cancer diagnosis (n = 80) and the oldest cancer unaffected LSVH (n = 20) for a high-throughput HLA genotyping of 11 HLA class I and class II loci using the shotgun next-generation sequencing (NGS) technique on the Illumina MiSeq platform. Statistical analyses employed Kaplan–Meier survival analyses with log-rank tests, and Cox proportional hazards using binned HLA data to minimize type I error. Significant associations were observed between young age at cancer diagnosis and HLA-DPB1*04:02 (mean age: 37 y (25–50); hazard ratio (HR) = 3.37; corrected p-value (q) = 0.043) as well as HLA-DPB1 binned alleles (including HLA-DPB1*09:01, HLA-DPB1*10:01, HLA-DPB1*106:01, HLA-DPB1*18:01, HLA-DPB1*20:01, HLA-DPB1*26:01, HLA-DPB1*28:01, HLA-DPB1*296:01, and HLA-DPB1*55:01) (mean age: 37 y (17–63); HR = 2.30, q = 0.045). The involvement of HLA-DPB1 alleles in the age at cancer diagnosis may highlight the potential role of HLA class II in the immune response against cancer development in LSVH. When validated in a larger cohort, these high-risk HLA-DPB1 alleles could be factored into cancer risk prediction models for personalized cancer screening in LSVH. Full article

Purpose: To investigate the associations between fluid accumulation at different levels in the retina and visual outcome in polypoidal choroidal vasculopathy (PCV). Design: A retrospective observational study. Institutional setting. Study Population: A total of 91 eyes from 91 patients of PCV were included, with 65 receiving intravitreal aflibercept monotherapy and 26 receiving combined intravitreal ranibizumab and photodynamic therapy (PDT). Observation Procedures: Best-corrected visual acuity (BCVA) and optical coherence tomography (OCT) examination results were recorded at baseline and 3, 6, and 12 months after treatment. Main Outcome Measures: The correlations between visual outcomes and fluid biomarkers including intraretinal fluid (IRF), subretinal fluid (SRF), serous pigment epithelium detachment (PED), and hemorrhage at fovea were analyzed. Results: No differences in treatment outcomes were noted between patients receiving aflibercept and those receiving combined ranibizumab and PDT. IRF and hemorrhage at baseline predicted poorer vision at 3, 6, and 12 months. The presence of IRF was associated with poorer vision at 6 months and 12 months (p < 0.05 for all). The presence of SRF or PED was not associated with better vision at any time point. No differences in the correlations between fluid markers and visual outcomes were noted between thin and thick subfoveal choroidal thickness groups. Conclusions: For PCV, IRF and hemorrhage at baseline served as surrogates for poor visual prognosis after treatment, and IRF was a biomarker for poor vision during the treatment course. No fluid markers predicted good visual prognosis or had a positive impact on vision at any time point. Full article

While several intraoperative devices have been described in the literature for assessing leg length discrepancy (LLD), none have been utilized during total hip arthroplasty (THA) performed via the Anterior Minimally Invasive Surgery (AMIS) approach. The aim of this prospective study was to evaluate the efficacy and accuracy of a compass device in assessing leg length during THA performed using the AMIS technique. A prospective study was conducted involving 35 patients who consecutively underwent unilateral primary THA using the AMIS technique at our department from September 2017 to December 2018. LLD was measured by comparing preoperative and postoperative anteroposterior radiographs of the pelvis, independently assessed by two observers. The mean preoperative LLD was 3.6 (SD 3.9, range, 0.2–19.3) mm. The mean postoperative LLD was 2.5 (SD 3.0, range, 0–12.2) mm. A postoperative LLD of less than 5 mm was observed in 88.2% of cases, with 94.1% having values less than 10 mm. In conclusion, the compass device emerged as a valuable tool for ensuring precise limb length control in THA with the AMIS approach, offering both efficiency and cost-effectiveness in clinical practice. Full article

Background: Acute liver injury occurs most frequently due to trauma, but it can also occur because of sepsis or drug-induced injury. This review aims to analyze artificial intelligence (AI)’s ability to detect and quantify liver injured areas in adults and pediatric patients. Methods: A literature analysis was performed on the PubMed Dataset. We selected original articles published from 2018 to 2023 and cohorts with ≥10 adults or pediatric patients. Results: Six studies counting 564 patients were collected, including 170 (30%) children and 394 adults. Four (66%) articles reported AI application after liver trauma, one (17%) after sepsis, and one (17%) due to chemotherapy. In five (83%) studies, Computed Tomography was performed, while in one (17%), FAST-UltraSound was performed. The studies reported a high diagnostic performance; in particular, three studies reported a specificity rate > 80%. Conclusions: Radiomics models seem reliable and applicable to clinical practice in patients affected by acute liver injury. Further studies are required to achieve larger validation cohorts. Full article

Background: Heart failure, stroke and death are major dangers associated with atrial fibrillation (AF), a common abnormal heart rhythm. Having a gastrointestinal (GI) procedure puts patients at risk for developing AF, especially after large abdominal surgery. Although earlier research has shown a possible connection between postoperative AF and higher mortality, the exact nature of this interaction is yet uncertain. Methods: To investigate the relationship between AF and death after GI procedures, this research carried out a thorough meta-analysis and systematic review of randomized controlled studies or clinical trials. Finding relevant randomized controlled trials (RCTs) required a comprehensive search across many databases. Studies involving GI surgery patients with postoperative AF and mortality outcomes were the main focus of the inclusion criteria. We followed PRISMA and Cochrane Collaboration protocols for data extraction and quality assessment, respectively. Results: After GI surgery, there was no statistically significant difference in mortality between the AF and non-AF groups, according to an analysis of the available trials (p = 0.97). The mortality odds ratio (OR) was 1.03 (95% CI [0.24, 4.41]), suggesting that there was no significant correlation. Nevertheless, there was significant heterogeneity throughout the trials, which calls for careful interpretation. Conclusion: Despite the lack of a significant link between AF and death after GI surgery in our study, contradictory data from other research highlight the intricacy of this relationship. Discrepancies may arise from variations in patient demographics, research methodology and procedural problems. These results emphasize the necessity for additional extensive and varied studies to fully clarify the role of AF in postoperative mortality in relation to GI procedures. Comprehending the subtleties of this correlation might enhance future patient outcomes and contribute to evidence-based therapeutic decision making. Full article

Introduction: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival. Objective: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review. Methodology: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases. Results: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge. Conclusions: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected. Full article

We aimed to examine the prevalence of, and factors associated with, quality of life (QOL) worsening among coronavirus disease 2019 (COVID-19) survivors. This population-based retrospective cohort study used data from the Korea Disease Control and Prevention Agency and the National Health Insurance Service in South Korea. A total of 325,666 COVID-19 survivors were included in this study. Among them, 106,091 (32.6%) survivors experienced worsening QOL after COVID-19. Specifically, 21,223 (6.5%) participants experienced job loss, 94,556 (29.0%) experienced decreased household income, and 559 (0.2%) acquired new disabilities. In the multivariable logistic regression model, living in rural areas (odds ratio [OR]: 1.02; 95% confidence interval [CI]: 1.01, 1.04; p = 0.009), intensive care unit admission (OR: 1.08, 95% CI: 1.02, 1.15; p = 0.028), and increase in self-payment by 100 USD (OR: 1.02, 95% CI: 1.02, 1.02; p < 0.001) were associated with increased QOL worsening after COVID-19. Old age (OR: 0.99, 95% CI: 0.98, 0.99; p < 0.001), first vaccination (OR: 0.89, 95% CI: 0.86, 0.93; p < 0.001), and second vaccination (OR: 0.95, 95% CI: 0.93, 0.96; p < 0.001) were associated with decreased QOL worsening after COVID-19. Approximately one-third of COVID-19 survivors in South Korea who were admitted to hospitals or monitoring centers experienced QOL worsening. Full article

Background: Artificial intelligence (AI)-based chatbots have shown promise in providing counseling to patients with metabolic dysfunction-associated steatotic liver disease (MASLD). While ChatGPT3.5 has demonstrated the ability to comprehensively answer MASLD-related questions in English, its accuracy remains suboptimal. Whether language influences these results is unclear. This study aims to assess ChatGPT’s performance as a counseling tool for Italian MASLD patients. Methods: Thirteen Italian experts rated the accuracy, completeness and comprehensibility of ChatGPT3.5 in answering 15 MASLD-related questions in Italian using a six-point accuracy, three-point completeness and three-point comprehensibility Likert’s scale. Results: Mean scores for accuracy, completeness and comprehensibility were 4.57 ± 0.42, 2.14 ± 0.31 and 2.91 ± 0.07, respectively. The physical activity domain achieved the highest mean scores for accuracy and completeness, whereas the specialist referral domain achieved the lowest. Overall, Fleiss’s coefficient of concordance for accuracy, completeness and comprehensibility across all 15 questions was 0.016, 0.075 and −0.010, respectively. Age and academic role of the evaluators did not influence the scores. The results were not significantly different from our previous study focusing on English. Conclusion: Language does not appear to affect ChatGPT’s ability to provide comprehensible and complete counseling to MASLD patients, but accuracy remains suboptimal in certain domains. Full article