Journal of Personalized Medicine

Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis of monogenic diseases (MDs) and the examination of seemingly healthy populations to reveal a wide range of potential risks prior to disease manifestation (in the future, exome sequencing may outpace costly and less informative genome sequencing to become the first-line examination technique). This review establishes the human genetic passport as a new WES-based clinical concept for the identification of new candidate genes, gene variants, and molecular mechanisms in the diagnosis, prediction, and treatment of monogenic, oligogenic, and multifactorial diseases. Various diseases are addressed to demonstrate the extensive potential of WES and consider its advantages as well as disadvantages. Thus, WES can become a general test with a broad spectrum pf applications, including opportunistic screening. Full article

Background: The correlation of the inflammatory profile with the severity of the disease in neoplastic patients with SARS-CoV-2 infection was addressed. Methods: A database of 1537 patients hospitalized in the pneumology department was analyzed. After applying the inclusion and exclusion criteria, 83 patients (67% males, 33% females) were included. Results: Most of the analyzed patients were hospitalized with a moderate form of disease, explaining the significant percentage of 25% mortality. The frequency of the type of neoplasm was higher for lung cancer, followed by malignant colon tumor. We identified a significant association between the increased value of ferritin (p < 0.0001, OR = 22.31), fibrinogen (p = 0.009, OR = 13.41), and C-reactive protein (p = 0.01, OR = 7.65), respectively, and the level of severity of COVID-19. The results of the univariate logistic regression analysis for predicting the severity of the disease revealed that the increased values of ferritin (p = 0.001, OR = 22.31) and fibrinogen (p = 0.02, OR = 13.41) represent a risk for a serious negative prognosis of COVID-19. Conclusions: Our study demonstrated that the value of the analyzed inflammatory parameters increased in direct proportion to the severity of the disease and that higher values were associated with increased mortality in the study group. Full article

Acute myeloid leukemia (AML) is a hematopoietic disorder characterized by the malignant transformation of bone marrow-derived myeloid progenitor cells with extremely short survival. To select the optimal treatment options and predict the response to therapy, the stratification of AML patients into risk groups based on genetic factors along with clinical characteristics is carried out. Despite this thorough approach, the therapy response and disease outcome for a particular patient with AML depends on several patient- and tumor-associated factors. Among these, tumor cell resistance to chemotherapeutic agents represents one of the main obstacles for improving survival outcomes in AML patients. In our study, a new prognostic scale for the risk stratification of AML patients based on the detection of the sensitivity or resistance of tumor cells to chemotherapeutic drugs in vitro as well as MDR1 mRNA/P-glycoprotein expression, tumor origin (primary or secondary), cytogenetic abnormalities, and aberrant immunophenotype was developed. This study included 53 patients diagnosed with AML. Patients who received intensive or non-intensive induction therapy were analyzed separately. Using correlation, ROC, and Cox regression analyses, we show that the risk stratification of AML patients in accordance with the developed prognostic scale correlates well with the response to therapy and represents an independent predictive factor for the overall survival of patients with newly diagnosed AML. Full article

Since its introduction in the early 2000s, robotic surgery has represented a significative innovation within a minimally invasive surgery approach. A variety of robotic platforms have been made available throughout the years, and the outcomes related to those platforms have been described in the literature for many types of surgeries. Medtronic’s Hugo^TM RAS system is one of the newest robotic generations launched, but because of its recent placing on the field, comprehensive clinical data are still lacking. The aim of the present state of the art is to address the current literature concerning the use of the Hugo^TM RAS robot in order to report its feasibility, safety and clinical applications in different surgical branches. Two reviewers independently conducted a search on the “PubMed” electronic database, using the keywords “Hugo” and “Hugo RAS”. After the initial screening of 35 results, a total of 15 articles concerning the Hugo RAS system were selected for the review, including both oncological and benign surgery. Patients’ demographic and baseline data were compared including, when available, docking system times, complications and oncological outcomes in the fields of urologic, gynecologic and general surgery. With reference to urological procedures, a total of 156 robot-assisted radical prostatectomies, 10 robot-assisted partial nephrectomies, and 5 robot-assisted adrenalectomies were performed, involving a total of 171 patients. The surgical branch in which the Hugo system found its major application was urology, which was followed by gynecology and general surgery. The Hugo RAS system by Medtronic represents an innovative and safe surgical platform, with excellent perspective for the future and different clinical applications in many surgical branches. More studies are needed to validate the safety and results from this new robotic platform. Full article

Objective: To review the current knowledge concerning COVID-19 vaccination and assisted reproductive techniques (ART). Methods: A systematic review in Pubmed-Medline, the Cochrane Database, the Web of Science, and the National Guideline was performed. Studies were selected if they were primary studies, included vaccinated (case) and unvaccinated (control) patients, and described fertility treatment response. Results: A total of 24 studies were selected. Outcomes related to the association between COVID-19 vaccination and ART were collected. The vast majority of studies found no statistical differences concerning oocyte stimulation response, embryo quality, implantation rates, or pregnancy outcome (clinical or biochemical pregnancy rates and losses) when comparing cases and controls. Similarly, no differences were found when comparing different types of vaccines or distinct ART (artificial insemination, in vitro fertilization, and embryo transfer of frozen embryos). Conclusions: Patients receiving ART and health care professionals should be encouraged to complete and recommend COVID-19 vaccination, as the available evidence regarding assisted reproductive outcomes is reassuring. Full article

(1) Background: hypertension (HTN) and diabetes mellitus (DM) represent two widely noncommunicable diseases that are prevalent globally, and they often correlate with chronic health issues. There has been an acknowledged connection between diabetes, hypertension, and hypothyroidism for quite some time. However, the extent of thyroid dysfunction among the diabetic population is not uniform and significantly differs across different research studies. This study was conducted with the objective of identifying the risk factors associated with hypothyroidism as well as assessing the relationship between hypothyroidism and hypertension in patients with diabetes. (2) Materials and Methods: Participants aged 18 years and above were included in this study, while pregnant women were excluded. Trained health professionals measured sociodemographic, behavioural, food practices, and anthropometric information about the participants. Each respondent sought medical advice regarding their health, and a face-to-face interview enabled them to express concern about the likelihood of being diagnosed with diabetes mellitus and hypertension. (3) Results: The study encompassed 640 participants, with an average age of 49.20 ± 13.0 years. Among these participants, 65.5% were female, and 34.5% were male. Of the total, 31.25% were diagnosed with diabetes mellitus, and 18.75% had hypertension. Interestingly, co-occurrence of both conditions was observed in 9.68% of the population. A comparison of thyroid function and indicators of blood sugar levels yielded consistent results across the different patient groups. Specifically, for diabetes mellitus (DM) patients, the average levels were 3.4 ± 9.8 pg/mL for fT3, 0.9 ± 0.7 ng/dL for fT4, 3.3 ± 6.2 μiU/mL for TSH, 153.1 ± 68.0 mg/dL for fasting plasma glucose (FPG), 213.2 ± 97.2 mg/dL for postprandial glucose (PPG), and 8.3 ± 3.2% for HbA1c. (4) Conclusion: It is concluded that patients with hypertension had a significant prevalence of diabetes mellitus. Subclinical hypothyroid subjects must be frequently screened for hypertension. Of 120 individuals with hypertension, 45 (37.5%) were also diagnosed with diabetes. This co-occurrence was significantly higher in subjects aged over 50 years (26.7%), in the lower socio-economic class (18.5%), and among those who were married (14.7%). Additionally, patients with hypertension exhibited a high prevalence of diabetes across different educational backgrounds and occupations, with the highest prevalence among postgraduates (37.5%) and professionals (24.0%), respectively. These findings highlight the need for an integrated approach to the management of hypertension and diabetes, particularly in high-risk demographics. Full article

Stroke rehabilitation is a lengthy procedure that is necessary for stroke recovery. However, stroke rehabilitation may not be readily available for patients who live rurally due to barriers such as transportation and expenses. This shortage in wearable technology, in turn, causes health disparity among the rural population, which was exacerbated by the COVID-19 pandemic restrictions. Telerehabilitation (TR) is a potential solution for stroke rehabilitation in rural areas. This one-case study aimed to examine the feasibility and safety of a technology-enabled at-home TR program for stroke survivors living in a rural area in Canada. A VR setup was installed successfully in the home of our participant. A tablet was also supplied for the TR program. Each program consisted of 24 sessions to be completed over a 12-week period. Our participant was assessed on day one using the Fugl-Meyer assessment, the Modified Ashworth Scale, the 10 m walk test, and the Mini-Mental State Exam. Three questionnaires were also completed, including the Motor Activity Log (MAL), the Stroke Index Scale (SIS), and the Treatment Self-Regulation Questionnaire. These assessments were completed thrice, on day 1, at week 6, and at week 12. The participant found the tablet and its accompanying exercises easy to use, with a few limitations. The participant found the VR system more challenging to manage independently as a lack of comfortability, the visual contrast during the first trials, and certain technical aspects of the technology created several functional barriers. Although some limitations with the technology were noted, this case study indicates that telerehabilitation is feasible under certain circumstances when used in conjunction with traditional rehabilitation services. Full article

Systemic inflammation indices were found to be correlated with therapeutic outcome in several cancers. This study retrospectively analyzes the predictive role of a broad range of systemic inflammatory markers in patients with locally advanced cervical cancer (LACC) including patient-, tumor-, and treatment-related potential prognostic factors. All patients underwent definitive chemoradiation and pretreatment values of several inflammatory indices (neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio, monocyte/lymphocyte ratio, systemic immune inflammation index (SII), leukocyte/lymphocyte ratio, combination of platelet count and NLR, aspartate aminotransferase/platelet ratio index, aspartate aminotransferase/lymphocyte ratio index, systemic inflammatory response index, and aspartate transaminase/neutrophil ratio index) were calculated. Their correlation with local control (LC), distant metastasis-free (DMFS), disease-free (DFS), and overall survival (OS) was analyzed. One hundred and seventy-three patients were included. At multivariable analysis significant correlations were recorded among clinical outcomes and older age, advanced FIGO stage, lower hemoglobin levels, larger tumor size, and higher body mass index values. The multivariate analysis showed only the significant correlation between higher SII values and lower DMFS rates (p < 0.01). Our analysis showed no significant correlation between indices and DSF or OS. Further studies are needed to clarify the role of inflammation indices as candidates for inclusion in predictive models in this clinical setting. Full article

Despite the OlympiA trial demonstrating that early-stage, high-risk, HER2- germline BRCA1 and BRCA2 mutation (gBRCAm) positive breast cancer patients can benefit from PARPi in the adjuvant setting, the gBRCA testing rate in early-stage HR+/HER2− patients remains suboptimal compared to that in early-stage TNBC patients. To better understand the perceived barriers associated with gBRCA testing in HR+/HER2− disease, a quantitative survey was conducted across stakeholders (n = 430) including medical oncologists, surgeons, nurses, physician assistants, payers, and patients. This study revealed that while payers claim to cover gBRCA testing, poor clinician documentation and overutilization are key challenges. Therefore, payers place utilization management controls on gBRCA testing due to their impression that clinicians overtest. These controls have led to healthcare professionals experiencing payer pushback in the form of reimbursement limitations and denials. The perceived challenges to gBRCA testing stem from the lack of consensus dictating which patients are high risk and should be tested. While payers define high risk based on the CPS + EG score from the OlympiA trial, HCPs adopt a broader definition including genomic risk scores, lymph node involvement, and tumor grade and size. A dialogue to harmonize risk classification and testing eligibility across stakeholders is critical to address this disconnect and increase gBRCA testing in appropriate patients. Full article

The radiofrequency ablation (RFA) is considered a valid, minimally invasive treatment modality for the management of symptomatic knee osteoarthritis (OA). The aim of this study was to compare the outcomes of RFA with that of commonly used intra-articular injections for the persistent knee pain due to OA. Medline/Pubmed and Scopus databases were systematically searched up to April 2023 to identify studies comparing the effect of RFA and intra-articular injections (IAIs) on knee OA. Nine studies including 899 patients fulfilled the eligibility criteria and were included in the systematic review. The RFA procedure was related with improved knee pain relief compared to IAIs at 3-, 6- and 12-month follow-up (p < 0.001). Similarly, functional improvement was greater in RFA treatment than that observed after hyaluronic acid (HA), steroid or platelet-rich plasma (PRP) injections (Visual Analogue Scale p < 0.001, Numeric Rating Scale p = 0.019, Western Ontario and McMaster University Osteoarthritis Index p = 0.012). The overall procedural complication rate of RFA was 10.2% and was higher than steroid (p = 0.023) and PRP (p = 0.017) injections. However, no severe adverse events were reported. For patients with symptomatic knee OA, RFA seems to be more effective than IAIs in alleviating pain and improving joint function, despite the relatively higher incidence of non-serious adverse events. However, due to the limited number of studies and patients, this result should be interpreted with caution and not be generalized to the entire knee OA population. Full article

(1) Background: An investigation of the preoperative diagnostic clues used to identify ruptured endometrioma by comparing the ruptured and unruptured states in patients who underwent laparoscopic operations due to endometrioma. (2) Methods: Patients with ruptured endometriomas (14 patients) and unruptured endometriomas (60 patients) were included, and clinical symptoms, laboratory findings, and radiological findings were analyzed. (3) Results: There were no significant differences in age, parity, last menstrual cycle days, or median size of endometrioma between two groups (group A: ruptured; group B: unruptured). The median serum level of CA 125 was 345.1 U/mL in group A and 49.8 U/mL in group B (p = 0.000). The median serum levels of CA 19-9 in group A and B were 46.0 U/mL and 19.1 U/mL, respectively (p = 0.005). The median serum level of CRP in group A was 1.2 g/dL, whereas it was 0.3 in group B (p = 0.000). ROC analysis showed that the optimal CA 125 cutoff value was 100.9 U/mL; the optimal CA 19-9 cutoff value was 27.7 U/mL; and the optimal CRP cutoff value was 1.0 g/dL. (4) Conclusions: Ruptured endometrioma can be diagnosed preoperatively using a combination of clinical symptoms, laboratory findings, and radiological findings. If a physician suspects a ruptured endometrioma, surgery should be performed to ensure optimal prognosis. Full article

The patellofemoral joint (PFJ) is a complex articulation between the patella and the femur which is involved in the extensor mechanism of the knee. Patellofemoral disorders can be classified into objective patellar instability, potential patellar instability, and patellofemoral pain syndrome. Anatomical factors such as trochlear dysplasia, patella alta, and the tibial tuberosity–trochlear groove (TT-TG) distance contribute to instability. Patellofemoral instability can result in various types of dislocations, and the frequency of dislocation can be categorized as recurrent, habitual, or permanent. Primary patellar dislocation requires diagnostic framing, including physical examination and imaging. Magnetic resonance imaging (MRI) is essential for assessing the extent of damage, such as bone bruises, osteochondral fractures, and medial patellofemoral ligament (MPFL) rupture. Treatment options for primary dislocation include urgent surgery for osteochondral fragments or conservative treatment for cases without lesions. Follow-up after treatment involves imaging screening and assessing principal and secondary factors of instability. Detecting and addressing these factors is crucial for preventing recurrent dislocations and optimizing patient outcomes. Full article

Background: Proximal humeral fractures (PHFs) are common injuries that can lead to significant functional impairment. This retrospective cohort study aimed to evaluate the clinical outcomes and complications associated with the use of the Targon PH+ (Fa. Aesculap, Germany) intramedullary nail for the treatment of PHFs. Methods: A subgroup consisting of 70 patients with a mean follow-up of 4.91 years out of 479 patients who underwent treatment with the Targon PH+ intramedullary nail for PHFs at a single center between 2014 and 2021 were included. Patient-reported outcome measures (PROMs) and health-related quality of life (HRQoL) were assessed using validated German versions of the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire, American Shoulder and Elbow Surgeons (ASES) score, Oxford Shoulder Score (OSS), and EuroQol 5-Dimension 5-Level (EQ-5D-5L). Radiographic assessment was performed using pre- and postoperative imaging. Results: Among the 70 patients of the subgroup who completed follow-up, 21.4% experienced complications, including major complications in 15.7% of cases, all of which were revised (revision rate of 15.7%). Anatomical reduction was achieved in 48,5% of cases. The mean DASH, ASES, and OSS scores were 25.4 ± 22.0, 76.2 ± 21.1, and 38.8 ± 10.3, respectively. Significant correlations were observed among the PROMs, indicating their convergent validity. Additionally, a significant correlation of all used PROMs and patient well-being (HRQoL) was observed. Severe complications and revisions were associated with significantly lower ASES scores (−11.1%, p = 0.013). There was a tendency for PROM scores to slightly decline with increasing fracture complexity, although this trend did not reach statistical significance. Our findings indicate that patients over the age of 65 years tend to exhibit lower scores in PROMs and HRQoL measures. Conclusion: The use of the Targon PH+ intramedullary nail for the treatment of PHFs resulted in satisfactory clinical outcomes and acceptable complication and revision rates. The PROMs and HRQoL measures indicated varying levels of disability and symptoms, with major complications, revision surgery, and age negatively impacting shoulder function after midterm follow-up. Full article

Background: Nonsurgical organ preservation protocols have seen a large diffusion worldwide in the last decades. Their oncological and functional effectiveness in a real-world setting has been recently questioned because of the high morbidity of salvage procedures. The aim of this study is to review the outcomes of postirradiation salvage total laryngectomy (STL) and reconstruction with pectoralis major flap. Methods: This retrospective observational study included 37 cases of STL in the period from January 2015 to December 2021. Data for each patient were extracted from the hospital information system and reviewed. Results: The 3-year overall and disease-specific survival are, respectively, 28% and 51%. Only seven recurrences after salvage surgery were recorded and all of them died from the disease. The other 14 deaths derived from comorbidities, with diabetes being the most significant predictive parameter for overall survival. Also, lower postoperative albumin levels were associated with a higher risk of death. Conclusions: Overall survival after STL and reconstruction with PMMF is low but most deaths are due to comorbidities and not to cancer progression or recurrence. Full article

Tay–Sachs disease is classified as a rare paediatric disease of metabolic origin. It is an autosomal recessive inherited disease. The gene responsible for the disease is known as HEXA, and it is located on chromosome 15(15q23). There is currently no effective treatment for Tay–Sachs disease; hence, it is an incurable disease in which patients do not live for more than five years, meaning that nursing care takes on greater importance to maintain quality of life. The main objective of this work is to develop a specific standard nursing care plan by applying an inductive research method supported by nursing methodology using the NANDA-NIC-NOC taxonomy and validated by the Delphi method. This care plan will improve the knowledge of health professionals on this topic and support future studies on the disease. Following its implementation, the care plan proposed in this study aims to increase the quality of life of patients diagnosed with this disease. Full article

Background: Despite high rates of successful outcomes after open and arthroscopic distal clavicle excision (DCE) for symptomatic acromioclavicular joint (ACJ) degeneration, some patients present with persistent symptoms and disabilities after surgical intervention. This study aims to compare radiological, functional, and subjective outcomes of open revision surgery after failed arthroscopic DCE to primary successful arthroscopic DCE. Methods: In this retrospective case-control study, 10 patients who underwent open DCE revision were age- and gender-matched with 10 patients who did not require revision surgery after DCE. Radiographic evaluation included presence of acromioclavicular spurs and acromioclavicular joint distance. Functional and subjective outcomes were assessed using the CS, SSV, SST, VAS for pain, patient’s satisfaction, ASES and quick DASH score. Results: At the latest postoperative follow-up (case: 57.3 ± 19.2 months; control: 63.5 ± 16.3 months), spur formation was detected in twice as many cases in the revision group, while acromioclavicular distance showed no significant difference. However, a significant bony regrowth was noticed in the revision group between revision surgery and latest follow-up, with a decrease of the acromioclavicular distance from 9.2 ± 1.6 mm to 5.9 ± 4.6 mm (p = 0.026) and a development of new spur formations in 30% of cases. There were no significant differences in overall CS between the revision and control group (p = 0.174) at final follow-up, but the control group scored significantly higher in the CS subgroups pain (p = 0.012) and internal rotation (p = 0.016). Mean SSV was significantly lower in the revision (65.5 ± 22.3%) compared to the control group (85.9 ± 16.4%; p = 0.031). Conclusions: Bony regrowth at the distal clavicle presenting as postoperative AC-distance narrowing and new spur formation was observed more distinctly in the revision group. Despite a slight increase in postoperative outcomes after revision surgery, subjective satisfaction and recalcitrant pain remain a concern. Level of Evidence: Therapeutic Level III, retrospective case-control study Full article

Purpose: For people with hearing implants (HI), magnetic resonance imaging (MRI) still presents some difficulties due to the built-in magnet. Radiologists often have concerns regarding complications associated with HIs. The aim of this study was to record the experiences of HI users during and after MRI examinations. Method: A survey including 15 questions regarding MRI specifics, namely changes in hearing ability, hearing/sound impressions, pain, uncomfortable feelings, etc., were mailed to our patients. Results: Overall, 79 patients with HI had a total of 159 MR examinations in our institute. A total of 45 HI recipients reported back: 35% stated that they had been rejected by an MRI Institute because of their HI. Their feelings/impression ratings during the measurements were not present and therefore were not rated for the majority (49%), 42% of the HI users rated the pain with 0 (no pain), 2% with 1 (very light pain), 4% with 5 (acceptable pain), and 2% rated the pain with 7, which is between acceptable and strong pain. One examination resulted in a dislocation of the magnet of a cochlear implant (CI 512 Cochlear Limited). No adverse events were reported for MED-EL HI users in the survey (none of the contacted AB users answered the questionnaire). The reported mean daily wearing time was 11.6 ± 4.6 h per day for 6.3 ± 1.7 days per week. Conclusions: Based on these results and our experience we conclude that MRI examinations with HI are safe given that the measurements are performed according to the safety policies and procedures released by the manufacturers. Full article

With the emergence of sentinel node technology, many patients can be staged histopathologically using lymphatic mapping and selective lymphadenectomy. Structural imaging by using US, CT and MR permits precise measurement of lymph node volume, which is strongly associated with neoplastic involvement. Sentinel lymph node detection has been an ideal field of application for nuclear medicine because anatomical data fails to represent the close connections between the lymphatic system and regional lymph nodes, or, more specifically, to identify the first draining lymph node. Hybrid imaging has demonstrated higher accuracy than standard imaging in SLN visualization on images, but it did not change in terms of surgical detection. New alternatives without ionizing radiations are emerging now from “non-radiological” fields, such as ophthalmology and dermatology, where fluorescence or opto-acoustic imaging, for example, are widely used. In this paper, we will analyze the advantages and limits of the main innovative methods in sentinel lymph node detection, including innovations in lymphoscintigraphy techniques that persist as the gold standard to date. Full article

Despite evidence of SGLT2 inhibitors in improving cardiovascular outcomes of heart failure with preserved ejection fraction (HFpEF), the heterogenous mechanism and characteristic multimorbidity of HFpEF require a phenotypic approach. Metabolic phenotype, one common HFpEF phenotype, has various presentations and prognoses worldwide. We aimed to identify different phenotypes of hypertensive-diabetic HFpEF, their phenotype-related outcomes, and treatment responses. The primary endpoint was time to the first event of all-cause mortality or hospitalization for heart failure (HHF). Among 233 recruited patients, 24.9% experienced primary outcomes within 12 months. A total of 3.9% was lost to follow-up. Three phenotypes were identified. Phenotype 1 (n = 126) consisted of lean, elderly females with chronic kidney disease, anemia, and concentric hypertrophy. Phenotype 2 (n = 62) included younger males with coronary artery disease. Phenotype 3 (n = 45) comprised of obese elderly with atrial fibrillation. Phenotype 1 and 2 reported higher primary outcomes than phenotype 3 (p = 0.002). Regarding treatment responses, SGLT2 inhibitor was associated with fewer primary endpoints in phenotype 1 (p = 0.003) and 2 (p = 0.001). RAAS inhibitor was associated with fewer all-cause mortality in phenotype 1 (p = 0.003). Beta blocker was associated with fewer all-cause mortality in phenotype 1 (p = 0.024) and fewer HHF in phenotype 2 (p = 0.011). Our pioneering study supports the personalized approach to optimize HFpEF management in hypertensive-diabetic patients. Full article