Polymorphisms of CD44 rs187115 as a Predictive Biomarker in Early Colorectal Cancer Diagnostic.

Introduction: Colorectal cancer (CRC) has exhibited an increasing incidence worldwide in recent years, underscoring the importance of early diagnosis methods. This study aimed to assess the influence of CD44 gene polymorphism rs187115 on CRC susceptibility. Material and Methods: The study encompassed 470 CRC patients and 165 healthy controls. Genotyping of all biological blood samples was conducted using the TaqMan assay on the ABI 7500 Real Time PCR System (Applied Biosystems, USA). Results: The genotyping revealed that carriers of the variant G allele, including the genotypes AG and GG, exhibited a heightened risk of CRC occurrence, with an odds ratio (OR) of 1.89 (95% confidence interval [CI] = 1.57-1.97; p = 0.047) compared to those carrying the AA genotype. Conclusions: The findings underscore the potential utility of CD44 rs187115 polymorphisms as a novel predictive biomarker for CRC prognosis.

A Comparative Analysis between Enhanced Recovery after Surgery and Traditional Care in the Management of Obstructive Colorectal Cancer.

Enhanced Recovery After Surgery (ERAS) represents evidence-based transformation in perioperative care, which has been demonstrated to reduce both recovery times and postoperative complication rates. The aim of the present study was to evaluate the clinical significance of the ERAS program in comparison with conventional postoperative care. This longitudinal cohort observational study enrolled 120 consecutive patients diagnosed with intestinal obstruction caused by colorectal cancers, with 40 patients in the ERAS group and 80 patients receiving conventional postoperative care forming the non-ERAS group. Our study compares the effectiveness of ERAS protocols to non-ERAS methods, focusing on the time to first flatus, defecation, the resumption of normal diet, and early mobilization. The main endpoints are morbidity and hospitalization length. The results showed that despite a longer admission-to-surgery interval in the ERAS group, median hospitalization was significantly shorter compared to the non-ERAS group (p = 0.0002). The ERAS group showed a tendency towards a lower incidence of overall postoperative complications, indicating that implementing the ERAS protocol does not increase the risk of postoperative complications, ensuring the safety of enhanced recovery strategies for patients. Also, ERAS patients had notably fewer stomas than those in the non-ERAS group, indicating the potential effectiveness of reducing stoma necessity. This study shows that ERAS surpasses conventional care for colonic or rectal surgery patients, reducing hospital stays and costs while enhancing recovery. This highlights the comprehensive advantages of adopting ERAS in surgical settings.

Psychological Factors Associated with General Quality of Life in the Context of COVID-19 Pandemic: A Cross-Sectional Study on a Multicultural Sample of Romanian Medical Students.

The COVID-19 pandemic had a significant impact on the general quality of life (GQOL) of a large number of individuals, including those in the academic environment. This study investigated GQOL in a sample of 613 Romanian medicine students (81.57% were female; mean age = 21.40 ± 1.749 years) in relation to their Big Five personality characteristics, Perceived Stress and Fear of COVID-19. The study was conducted between June 2020 and March 2022. These variables were investigated with the Big Five Inventory-2: Extra-Short Form, the Fear of COVID-19 Scale (FCV-19S), the Perceived Stress Scale-10 and the Satisfaction with Life Scale (SWLS). Statistical analysis included hierarchical linear regression and t-tests. The results indicated a significant direct relationship between GQOL and the personality traits of Conscientiousness, Extraversion and Agreeableness. However, a significant inverse relationship was observed between GQOL and Perceived Stress and Neuroticism. Fear of COVID-19 was significantly higher in women, while no other socio-demographic variables were associated with GQOL. A total of 61.7% of the studied population returned to their original residency during the pandemic years. These results could be important for better understanding the vulnerability to significant epidemiological events in academic populations and for planning adequate preventive or interventional measures.

From Jane Doe to Sofia: DNA Extraction Protocol from Bones and Teeth without Liquid Nitrogen for Identifying Skeletal Remains.

DNA analysis plays a crucial role in forensic investigations, helping in criminal cases, missing persons inquiries, and archaeological research. This study focuses on the DNA concentration in different skeletal elements to improve human identification efforts. Ten cases of unidentified skeletal remains brought to the Institute of Forensic Medicine in Timisoara, Romania, underwent DNA analysis between 2019 and 2023. The results showed that teeth are the best source for DNA extraction as they contain the highest concentration of genetic material, at 3.68 ng/µL, compared to the petrous temporal bone (0.936 ng/µL) and femur bone (0.633 ng/µL). These findings highlight the significance of teeth in forensic contexts due to their abundant genetic material. Combining anthropological examination with DNA analysis enhances the understanding and precision of identifying human skeletal remains, thus advancing forensic science. Selecting specific skeletal elements, such as the cochlea or teeth, emerges as crucial for reliable genetic analyses, emphasizing the importance of careful consideration in forensic identification procedures. Our study concludes that automated DNA extraction protocols without liquid nitrogen represent a significant advancement in DNA extraction technology, providing a faster, more efficient, and less labor-intensive method for extracting high-quality DNA from damaged bone and tooth samples.

Etiology of Total Knee Arthroplasty Revisions: A Two-Decade Institutional Perspective.

Total knee arthroplasty (TKA) implant survival time is determined by various patient and implant-related factors and varies significantly in recent worldwide reports. In our study, we have included 247 TKA revisions in 203 patients performed in our hospital over the last 20 years. Multiple etiologies of revisions were identified and classified into 10 categories. Time to failure was analyzed with regard to etiology, patient demographics, and other relevant data. The overall average time to revision was 44.08 months (95% confidence interval (CI) between 33.34 and 49.82 months). Age at primary implant was negatively correlated with time to revision (hazard ratio (HR) = 1.0521 and 95% CI of HR = 1.0359 to 1.0685) and female patients showed a 1.59 times higher risk of implant failure than males. Periprosthetic joint infection was the cause of 46.56% (n=115) of revisions (out of which 12.55% (n=31) were early infections, diagnosed within the first three months), while aseptic loosening was found in 31.98% (n=79) of cases. Infection correlated with a shorter time to revision compared to aseptic loosening (p<0.05). These findings emphasize the need to intensify efforts to deliver the best patient care, select the best antibiotic regimen, and improve surgical techniques to decrease the incidence of infectious complications.

Quality of life, mood disorders, and cognitive impairment in adults with ß-thalassemia.

Advances in understanding the disease process in ß-thalassemia supported development of various treatment strategies that resulted in improved survival. Improved survival, however, allowed multiple morbidities to manifest and cemented the need for frequent, lifelong treatment. This has directly impacted patients' health-related quality of life and opened the door for various psychiatric and cognitive disorders to potentially develop. In this review, we summarize available evidence on quality of life, depression and anxiety, suicidality, and cognitive impairment in adult patients with ß-thalassemia while sharing our personal insights from experience in treating patients with both transfusion-dependent and non-transfusion-dependent forms.

Quality of Life Predictors in a Group of Informal Caregivers during the COVID-19 Pandemic.

Background and Objectives: The informal caregiver's contribution to the wellbeing of dementia patients is critical since these individuals become dependent on others for all daily activities. Our goal was to investigate the dynamics of anxiety, depression, burnout, sleep, and their influence on quality of life over a 6-month period in the context of pandemic distress in a sample of informal caregivers of Alzheimer's patients. Materials and Methods: For this prospective, longitudinal study, we conducted a 6-month telephonic survey between 2021 and 2022, administering a series of questionnaires at three timepoints (baseline, 3 months and 6 months) to a group of informal caregivers of patients suffering from dementia due to Alzheimer's disease. Results: A total of 110 caregivers were included at baseline, out of which 96 continued to the second stage and 78 followed through to the last stage. The majority of the participants were female (most likely the patients' daughters), around 55 years old, living in urban areas, married, with children, having a high school degree or a higher education degree, and working in jobs that required physical presence; in the best-case scenario, they were sharing their responsibilities with another two-three caregivers. More than half of the 110 participants (50.9%) reported mild to moderate anxiety at baseline, and 27.3% reported significant anxiety, with no changes between the three timepoints, F(2, 154) = 0.551, p = 0.57; 25% reported moderate-severe depression at the start, with no changes between the three timepoints, F(2, 154) = 2.738, p = 0.068; and many reported a decrease in quality of life, poor quality of sleep, and decreased fear of COVID infection. Cynicism, professional effectiveness, anxiety, depression, and sleep quality explained up to 87.8% of the variance in quality of life. Conclusions: Caregivers' decreased quality of life during the pandemic was explained by their levels of burnout, anxiety, and depression throughout the 6-month period.

Molecular Monitoring of Allogeneic Stem Cell Transplantation in Fanconi Anemia.

BACKGROUND: Allogeneic hematopoietic stem cell transplantation (HSCT) is the treatment of choice in patients with Fanconi anemia (FA). The aim of our study is to evaluate the impact and benefits of allogenic matched donor HSCT in a case of a 12 year-old girl with FA, who displayed good clinical evolution following 2 months post-transplantation. METHODS: In the pre-transplant phase, reference blood samples from the donor and recipient were collected on EDTA. The DNA from blood samples was extracted using an automated Maxwell® 48 RSC instrument (Promega, USA) with the Maxwell® RSC Whole blood DNA kit (Promega, USA). For DNA quantification, the PowerQuant System kit (Promega, USA) was used with the ABI 7500 Real-time PCR system (Applied Biosystems, USA). The amplification of the short tandem repeat markers was performed using the 24plex Investigator QS kit (Qiagen, Germany) on a ProFlex PCR System. Furthermore, the PCR products were separated and detected on an ABI 3500 Genetic Analyzer (Applied Biosytems, USA). RESULTS: Thirty days post transplantation, a complete chimerism (CC) was achieved with a full replacement by do-nor derived hematopoietic cells. Sixty days post transplantation, the CC status was maintained with improvement of hematological findings. CONCLUSIONS: In FA, chimerism monitoring after HSCT provides useful information regarding engraftment or possibility of post-transplantation complications such as graft versus host disease.

SARS-CoV-2: An Overview of the Genetic Profile and Vaccine Effectiveness of the Five Variants of Concern.

With the onset of the COVID-19 pandemic, enormous efforts have been made to understand the genus SARS-CoV-2. Due to the high rate of global transmission, mutations in the viral genome were inevitable. A full understanding of the viral genome and its possible changes represents one of the crucial aspects of pandemic management. Structural protein S plays an important role in the pathogenicity of SARS-CoV-2, mutations occurring at this level leading to viral forms with increased affinity for ACE2 receptors, higher transmissibility and infectivity, resistance to neutralizing antibodies and immune escape, increasing the risk of infection and disease severity. Thus, five variants of concern are currently being discussed, Alpha, Beta, Gamma, Delta and Omicron. In the present review, a comprehensive summary of the following critical aspects regarding SARS-CoV-2 has been made: (i) the genomic characteristics of SARS-CoV-2; (ii) the pathological mechanism of transmission, penetration into the cell and action on specific receptors; (iii) mutations in the SARS-CoV-2 genome; and (iv) possible implications of mutations in diagnosis, treatment, and vaccination.

Somatic Symptoms and Sleep Disorders: A Literature Review of Their Relationship, Comorbidities and Treatment.

This study aimed to investigate the relationship between somatic symptom disorder (SSD) and sleep disorders, following three research questions: (1) How are these disorders correlated? (2) What are the comorbidities reported in these patients? and (3) What are the most effective pharmacological and non-pharmacological treatments for both conditions? PubMed, Scopus, OVID, Medline, and ProQuest databases were searched for relevant articles published between 1957-2020. Search terms included "somatic symptoms disorder", "sleep disorders", "insomnia", "somatoform", "somatization", "therapeutic", "psychotherapy", and alternative, formerly used terms for SSD. Forty papers were finally included in the study. Prevalence of insomnia in SSD patients ranged between 20.4-48%, with this being strongly correlated to somatic symptoms and psychosocial disability. The most relevant comorbidities were generalized anxiety disorder, depression, fatigue, negative mood, substance use, orthorexia, alexithymia, anorexia, weight loss, poor eating habits, and acute stress disorder. Patients receiving antidepressant therapy reported significant improvements in insomnia and somatic symptoms. In terms of non-pharmacological interventions, cognitive-behavioral therapy (CBT) showed improvements in sleep outcomes, while the Specialized Treatment for Severe Bodily Distress Syndromes (STreSS) may represent an additional promising option. Future research could include other medical and psychosocial variables to complete the picture of the relationship between sleep disorders and somatic symptoms.

A closer look at patterns and characteristics of suicide in Lebanon: A first nationwide report of cases from 2008 to 2018.

BACKGROUND: Suicide is a leading preventable cause of mortality worldwide. Suicide rates in Lebanon are unknown, as reported numbers are extrapolated and modeled over neighboring countries with poor quality of vital registration data. METHODS: Numbers of death by suicide were obtained from the Internal Security Forces records from January 2008 through December 2018. Records from 2011 through 2018 specified the gender of the individual, the means of the suicide, the date and place of suicide. As of March 2014, nationality of the individual was recorded. RESULTS: The total recorded number of completed suicides over 11 years is 1366 with an annual rate ranging between 1.87 and 2.4 per 100,000 capita. The male to female ratio was 2:1. Death by firearms (41.4 %) was the most common means used, followed by hanging (26.5 %), jumping from a height (13.6 %), and poisoning (13.5 %). Males were more likely to use firearms while females were more likely to use hanging or jumping from a height (p < 0.001), the latter being a common finding in non-Lebanese nationals (Ethiopian). Suicides were most common in Mount Lebanon and least common in Nabatieh governates, while their distribution across seasons was similar. CONCLUSION: In Lebanon, like most of the Middle Eastern countries, suicide is a social and religious taboo. Our study shows a sizable prevalence of suicide rates, particularly after national efforts to improve awareness and reporting. Suicide means and vulnerable populations should be at the heart of targeted prevention strategies.

Meaning in Life, Subjective Well-Being, Happiness and Coping at Physicians Attending Balint Groups: A Cross-Sectional Study.

This study aimed to measure the scores of well-being, subjective happiness, sense of meaning, and coping in Romanian physicians and the potential impact on them of systematically attending Balint groups. Eighty participants (33 men, 47 women, mean age 38.90, SD 9.73) were included in the study. From them, 43 had systematically attended a Balint group in the last two years, while the others represented the controls. All participants were administered the Meaning of Life Questionnaire, the Job-related Affective Well-being Scale, the Brief COPE Scale, and the Subjective Happiness Scale. t-tests and MANOVA were used to compare the group scores and the impact of Balint training on the study variables. Results showed that Balintian participants had a lower use of denial and self-blame and were more oriented towards the seeking of emotional and instrumental support. They also reported higher scores in high pleasurable-low arousal emotions, positive emotions, and in the perception of the presence of meaning. Still, when considering other additional predictors (gender, age), the distinct impact of Balint training remained limited to the preference for certain coping mechanisms. These results could stimulate the use of Balint groups as a tool for the physician's formation programs.

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.

Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype recognised as Fanconi anaemia complementation group S. Due to its rarity, medical management and preventive screening measures are insufficiently understood. Here, we present nine individuals (one new and eight previously presented) with biallelic variants in BRCA1 gene, to delineate clinical features in comparison with other chromosome instability syndromes and understand the patients' health risk. Features seen in these 9 individuals (7 females/2 males) include prenatal and postnatal growth failure (9/9), microcephaly (9/9), hypo/hyperpigmented lesions (9/9), facial dysmorphism (9/9), mild developmental delay (8/9) and early-onset solid tumours (5/9). None presented bone marrow failure or immunodeficiency. Individuals with biallelic variants in BRCA1 also showed chromosomal instability by mitomycin and diepoxybutane test. The phenotype caused by biallelic BRCA1 variants is best framed between Fanconi anaemia and Nijmegen syndrome, yet distinct due to lack of bone marrow failure and immunodeficiency. We hypothesise that disease class should be reframed and medical management in people with biallelic variants in BRCA1 should emphasise on detection of solid tumour development and avoiding exposure to ionising radiation.

CHDH-PNPLA3 Gene-Gene Interactions Predict Insulin Resistance in Children with Obesity.

INTRODUCTION: Insulin resistance plays a major role in metabolic syndrome and is recognized as the most common risk factor for non-alcoholic fatty liver disease (NAFLD). Identifying predictors for insulin resistance could optimize screening and prevention. PURPOSE: To evaluate the contribution of multiple single nucleotide polymorphisms across genes related to NAFLD and choline metabolism, in predicting insulin resistance in children with obesity. METHODS: One hundred fifty-three children with obesity (73 girls), aged 7-18 years, were evaluated within the NutriGen Study (ClinicalTrials.gov-NCT02837367). Insulin resistance was defined by Homeostatic Model Assessment for insulin-resistance cut-offs that accommodated pubertal and gender differences. Anthropometric, metabolic, intake-related variables, and 55 single nucleotide polymorphisms related to NAFLD and choline metabolism were evaluated. Gene-gene interaction effects were assessed using Multiple Data Reduction Software. RESULTS: Sixty percent (93/153) of participants showed insulin resistance (58.7% of boys, 63% of girls). Children with insulin resistance presented significantly higher values for standardized body mass index, triglycerides, transaminases and plasma choline when compared to those without insulin resistance. Out of 52 single nucleotide polymorphisms analysed, the interaction between genotypes CHDH(rs12676) and PNPLA3(rs738409) predicted insulin resistance. The model presented a 6/10 cross-validation consistency and 0.58 testing accuracy. Plasma choline levels and alanine aminotransferase modulated the gene interaction effect, significantly improving the model. CONCLUSION: The interaction between genotypes in CHDH and PNPLA3 genes, modulated by choline and alanine aminotransferase levels, predicted insulin-resistance status in children with obesity. If replicated in larger cohorts, these findings could help identify metabolic risk in children with obesity.

Intravenous iron infusion as an alternative to minimize blood transfusion in peri-operative patients.

Despite the reported benefits of intravenous iron therapy (IVIT) for correcting iron deficiency anemia (IDA) before any major surgery and the evidence thereof, perioperative allogenic blood transfusion (ABT) practice is still considered as the only viable option by some clinicians worldwide. As ABT increases the likelihood of infections, cardiac complications, longer hospital stays and mortality among the patients, the practice of ABT should only be reserved for critical cases (Hb level < 7 g/dl). Timely iron studies and iron replenishment (oral/IV) of prospective surgical patients could help decrease the ABT practice, and prove beneficial from both the clinical and economic standpoint. Evidence based patient blood management guidelines should be developed and standardized for use by clinicians worldwide. These guidelines should include specific instructions on timely assessment of surgical patients for correction of their IDA by either oral iron supplementation, if time permits, or by using IVIT such as ferric carboxymaltose (FCM) in emergency surgeries and in patients with functional ID. This study was conducted to explore the clinical benefits of the timely administration of IV-FCM in iron-deficient preoperative patients during 2017-2018 and compare the results thereof with that of the ABT. Based on the IDA treatment plan of 2953 patients, 11.14% cases were administered IV FCM (Group 1), 11.58% cases received ABT (Group 2), while the remaining 77.27% of anemic cases received neither ABT nor IV FCM (Group 3). The results indicate that the IV FCM administration reduces the need for ABT and thus minimizes its associated side effects. The findings of our study concur with the favorable outcomes reported by the other similar studies.

Detection of Mutations in Short Tandem Repeats (STRs) Loci in Paternity Testing in Romanian Population.

BACKGROUND: In forensic genetics, mutation analysis for different short tandem repeat (STR) loci is important for paternity and maternity testing. The aim of this study is determining the most frequent loci with mutations in a population of 743 individuals in western Romania in 246 kinship cases. These include 240 paternity and 6 maternity tests analyzed at the Laboratory of Forensic Genetics, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. The study was conducted between January 1, 2017, to January 1, 2020. The study aims to analyze the mutation rates for 15 autosomal markers used in this type of testing. The following loci were included in our study: D3S1358, D8S1179, D18S51, D21S11, FGA, TH01, vWA, CSF1PO, D7S820, D13S317, D16S539, D2S1338, D19S433, TPOX, D5S818. METHODS: For the reference samples, we used saliva collected on buccal swabs from all individuals. Salivary DNA was quantified on the 7500 real-time PCR equipment (Thermo Scientific, USA). Further, amplification of the DNA samples was performed on a ProFlex PCR System (Thermo Scientific, USA) using Identifiler Plus PCR Am-plification kit (Thermo Scientific, USA). Fragment analysis was performed on the 3500 Genetic Analyzer (Thermo Scientific, USA). The genetic profiles were generated by GeneMapper ID-X software version 1.4 (Thermo Scientific, USA). RESULTS: The mutation events in paternity testing were observed in 10 out of the 15 analyzed loci: D21S11, D18S51, D16S539, D8S1179, FGA, D2S441, D19S433, D2S1338, D3S1358, D5S818 and vWA. Paternal mutations were more frequent (63%) than maternal mutations (37%). CONCLUSIONS: The results confirm that the mutation rate in paternity tests are more frequent during paternal meiosis compared to maternal.

Clinical Validity of Subjective Clinical Prognosis in First Episode Psychosis Schizophrenia Patients: An Analysis of Data from the European First Episode Schizophrenia Trial (EUFEST) Study.

PURPOSE: This study examined the validity of subjective clinical prognosis (SCP), a commonly used clinical tool, in first episode psychosis patients included in the European First Episode Schizophrenia Trial (EUFEST) study. PATIENTS AND METHODS: The study comprised 455 patients from the EUFEST trial (mean age 25.92, SD=5.45; 188 (41.31%) women, 267 (58.69%) men). SCP was classified into three mutually exclusive groups: "good prognosis" (GP) (n=265), "average prognosis" (AP) (n=131), and "poor prognosis" (PP) (n=59). The validity of the SCP was assessed by investigating the differences between the SCP groups and completer or responder status of the patients, during 1 year of the trial. RESULTS: The proportion of completers was significantly higher in the GP group (64.4%) compared to the AP group (25.6%) (OR=1.62, 95% CI=1.062-2.476, p<0.031) and the PP group (10%) (OR=2.17, 95% CI=1.226-3.853, p<0.009) throughout the whole duration of the trial. In what concerns responsiveness, a significantly higher number of responders were registered in the GP group compared to the AP and the PP groups in the first three months of treatment, but this outcome did not persist afterwards. CONCLUSION: In terms of its predictive value at first episode schizophrenic patients, SCP seems to be reliable for treatment completion, but has a limited utility in what concerns responsiveness to treatment. This finding suggests the necessity of creating a prediction model potentially including, besides SCP, other measurement-based variables.

Synchronous Multiple Breast Cancers-Do We Need to Reshape Staging?

Background and Objectives: Current recommendations and treatment regimens in breast cancer are a reflection of its heterogeneity on multiple levels including histological subtypes, grading, molecular profiling, and numerous prognostic indices. Although based on extensive research, current guidelines are not explicit in the case of surgical specimens showing various degrees of mismatch between different parts of the same tumor and even more so between multicentric lesions. Synchronous breast cancer is the ideal prototype for studying inter- and intra-tumoral heterogeneity, therefore we envisaged that a study on patients with multicentric and multifocal lesions could contribute to the reshaping of the staging, prognosis, and treatment of breast malignancies. Material and Methods: A prospective observational study was conducted between January 2013 and May 2017 on 235 patients diagnosed with breast cancer (BC) and surgically treated at Emergency University Hospital, Bucharest. Thirty-seven patients had multiple breast tumors and were eligible for assessment of the heterogeneity of their lesions. Results: 6 were multicentric and 31 multifocal. The number of foci varied from 2 to 11. We encountered numerous mismatches between the index and the secondary tumors, as follows: 3 cases (8.1%) with histopathological mismatch, 13 (35.1%) with different grades of differentiation, 11 (29.8%) with ER (Estrogen Receptors) status mismatch, 12 (32.4%) with PR (Progesterone Receptors) status mismatch, 8 (21.6%) with molecular phenotype mismatch, and 17 (45.9%) cases with variable Ki-67. After careful analysis of index and secondary tumors, apart from the mismatches reported above, we discovered that the secondary tumors were actually dominant in 5 cases (13.5%), and therefore at least those cases had to be reclassified/restaged, as the supplementary data commanded changes in the therapeutic decision. Conclusions: For synchronous breast tumors, the current Tumor-Node-Metastasis (TNM) staging system ignores not only the histopathological and immunohistochemical characteristics of the secondary foci, but also their size. When secondary lesions are more aggressive or their cumulative mass is significantly bigger than that of the index tumor, the treatment plan should be adapted accordingly. We believe that information obtained from examining secondary foci in synchronous breast cancer and assessment of the cumulative tumoral mass should be reflected in the final staging and definitive treatment. The clinical benefit of staging the patients based on the most aggressive tumor and the cumulative tumoral burden rather than according to the biggest single tumor, will avoid under-treatment in cases with multifocal/multicentric BC displaying intertumoral mismatch.

Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity.

Polyunsaturated fatty acids (PUFAs) play important roles in health and disease. PUFA levels are influenced by nutrition and genetic factors. The relationship between PUFA composition in red blood cells (RBCs) and genetic variations involved in PUFA metabolism has not been investigated in children with obesity. This study evaluated the association between several genetic variations and PUFA levels in RBCs in children with obesity. One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine N-methyltransferase (PEMT) rs1109859 and methylenetetrahydrofolate reductase gene (MTHFR) rs4846052 genotypes were associated with PUFA levels in RBCs. PUFA intake did not influence the RBC eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) levels. Higher RBC DHA and EPA levels were observed for PEMT rs1109859 GG and GA genotypes versus the AA genotype. Higher levels of RBC DHA, EPA, arachidonic acid (ARA), and linoleic acid (LA) and were observed for MTHFR rs4846052 TT genotype versus TC and CC genotypes. Genetic variations in PEMT rs1109859 and MTHFR rs4846052 were associated with different PUFA levels in RBC membranes and are estimators for PUFA species in RBCs. Further research is needed to establish whether these genotype-specific alterations are specific to overweight children.