[Translated article] Hospital pharmacy towards 2030.

Hospital Pharmacy is today a profession marked by therapeutic advances, with a proactive attitude, focussed on people and their health. The evolution of processes is constant, with the full presence of digitalisation, robotisation, and even artificial intelligence, in an environment that also requires the efficient and sustainable use of these tools. In this context, it is necessary to have a roadmap that guides the advancement of the profession and Hospital Pharmacy Services. Continuing with the philosophy of the 2020 initiative which, with the slogan "Towards the future, safely", defined the strategic lines to advance in the improvement of Hospital Pharmacy practice, the Spanish Society of Hospital Pharmacy wanted to raise the challenges the profession is currently facing and with a view to 2030. With this strategic planning objective, 20 challenges have been identified and developed, which cover the different areas of action and involvement of Hospital Pharmacy and which cover clinical activities, transversal aspects, training, and research, as well as areas related to people and to the organisations or health systems. For each of them, the objectives, standards, tools, and resources have been defined. It is also planned to provide tools that facilitate monitoring of implementation and the impact on the profession, patients, and the environment.

Noninferior Immunogenicity and Consistent Safety of Respiratory Syncytial Virus Prefusion F Protein Vaccine in Adults 50-59 Years Compared to ≥60 Years of Age.

BACKGROUND: The adjuvanted respiratory syncytial virus (RSV) prefusion F protein-based vaccine (RSVPreF3 OA) is approved in adults aged ≥60 years. We evaluated RSVPreF3 OA immunogenicity and safety in adults aged 50-59 years without or with increased risk for RSV disease due to specific chronic medical conditions. METHODS: This observer-blind, phase 3, noninferiority trial included adults aged 50-59 years, stratified into 2 subcohorts: those with and those without predefined, stable, chronic medical conditions leading to an increased risk for RSV disease. Participants in both subcohorts were randomized 2:1 to receive RSVPreF3 OA or placebo. A control group of adults aged ≥60 years received RSVPreF3 OA. Primary outcomes were RSV-A and RSV-B neutralization titers (geometric mean titer ratios and sero-response rate differences) 1 month post-vaccination in 50-59-year-olds versus ≥60-year-olds. Cell-mediated immunity and safety were also assessed. RESULTS: The exposed population included 1152 participants aged 50-59 years and 381 participants aged ≥60 years. RSVPreF3 OA was immunologically noninferior in 50-59-year-olds versus ≥60-year-olds; noninferiority criteria were met for RSV-A and RSV-B neutralization titers in those with and those without increased risk for RSV disease. Frequencies of RSVPreF3-specific polyfunctional CD4+ T cells increased substantially from pre- to 1 month post-vaccination. Most solicited adverse events had mild-to-moderate intensity and were transient. Unsolicited and serious adverse event rates were similar in all groups. CONCLUSIONS: RSVPreF3 OA was immunologically noninferior in 50-59-year-olds compared to ≥60-year-olds, in whom efficacy was previously demonstrated. The safety profile in 50-59-year-olds was consistent with that in ≥60-year-olds. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov: NCT05590403.

Hospital pharmacy towards 2030. / La farmacia hospitalaria rumbo al 2030.

Hospital pharmacy is today a profession marked by therapeutic advances, with a proactive attitude, focused on people and their health. The evolution of processes is constant, with the full presence of digitalization, robotization and even artificial intelligence, in an environment that also requires the efficient and sustainable use of these tools. In this context, it is necessary to have a roadmap that guides the advancement of the profession and hospital pharmacy services. Continuing with the philosophy of the 2020 initiative which, with the slogan "Towards the future, safely", defined the strategic lines to advance in the improvement of hospital pharmacy practice, the Spanish Society of Hospital Pharmacy wanted to raise the challenges the profession is currently facing and with a view to 2030. With this strategic planning objective, twenty challenges have been identified and developed, which cover the different areas of action and involvement of hospital pharmacy and which cover clinical activities, transversal aspects, training and research, as well as areas related to people and to the organizations or health systems. For each of them, the objectives, standards, tools and resources have been defined. It is also planned to provide tools that facilitate monitoring of implementation and the impact on the profession, patients and the environment.

AlphaFold two years on: Validation and impact.

Two years on from the initial release of AlphaFold, we have seen its widespread adoption as a structure prediction tool. Here, we discuss some of the latest work based on AlphaFold, with a particular focus on its use within the structural biology community. This encompasses use cases like speeding up structure determination itself, enabling new computational studies, and building new tools and workflows. We also look at the ongoing validation of AlphaFold, as its predictions continue to be compared against large numbers of experimental structures to further delineate the model's capabilities and limitations.

Metformin in combination with chemotherapy increases apoptosis in gastric cancer cells and counteracts senescence induced by chemotherapy.

Gastric cancer (GC) is the fourth leading cause of cancer death in the world, and there is a demand for new therapeutic agents to treat GC. Metformin has been demonstrated to be an antineoplastic agent in some types of cancer; however, it has not been sufficiently valued in treating GC because the effect of metformin in combination with chemotherapy regimens has not yet been evaluated. The present study aimed to evaluate the mechanisms underlying cell death induced by metformin alone or when combined with chemotherapy. The cytogenetic characteristics of the NCI-N87 cell line were determined by fluorescence in situ hybridization (FISH). To determine viability, the cells were treated with metformin, epirubicin, cisplatin, docetaxel and 5-fluorouracil (individually and at different concentrations). Subsequently, the cells were treated with metformin alone, and in combination with the chemotherapeutic drugs and the epirubicin + cisplatin + 5-fluorouracil, docetaxel + cisplatin + 5-fluorouracil, and cisplatin + 5-fluorouracil regimens. Cell viability, proliferation and mitochondrial membrane potential (ΔΨm) were analyzed by spectrophotometry. Apoptosis, caspase activity and cell cycle progression were assessed by flow cytometry. Finally, light microscopy was used to evaluate senescence and clonogenicity. The results revealed that metformin, alone and when combined with chemotherapy, increased the proportion of apoptotic cells, promoted the loss of ΔΨm, and induced apoptosis through caspase activity in GC cells. Moreover, metformin decreased cell proliferation. In addition, metformin alone did not induce senescence and it counteracted the effects of chemotherapy-induced senescence in GC cells. Additionally, metformin, alone and when combined with chemotherapy, decreased the clonogenic capacity of NCI-N87 GC cells. In conclusion, metformin may increase the effects of chemotherapy on NCI-N87 cell death and could represent an option to improve the treatment of GC.

Family reaction to coming out (FRCO): A Spanish adaptation and validation of perceived parental reactions scale.

Family reactions to coming out can affect the mental health of individuals who disclose their sexual orientation or gender identity. Therefore, it is important to have an appropriate tool to assess them. The Perceived Parental Reactions Scale (PPRS) assessed perceived parental reactions to the disclosure of gay, lesbian, or bisexual sexual orientation by their children. We adapted the PPRS so that it can be answered by any individual belonging to a sexual or gender minority, and can be answered regarding any member of the family, not just parents. A total of 2627 individuals from Spain participated in this study, with a mean age of 31.59 (SD = 11.26). Participants completed the adapted PPRS questionnaire, now named the Family Reaction to Coming Out (FRCO). The FRCO assessed family reactions when disclosing their sexual orientation or gender identity. The majority of participants identified as cisgender men (47.5%) or cisgender women (44.9%), and as gay/lesbian (51.9%). A one-factor model emerged through exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). The FRCO displayed excellent internal consistency and demonstrated good levels of invariance for participants' gender (male vs female vs nonbinary gender), family member's gender (male vs female), and type of family member (parents vs other family member). Supporting convergent validity, the FRCO has shown a positive correlation with fear of family reaction to coming out. These findings support the validity and reliability of the FRCO tool in assessing the reactions of any family member within the Spanish context.

Multiplex spatial analysis reveals increased CD137 expression and m-MDSC neighboring tumor cells in refractory classical Hodgkin Lymphoma.

The Hodgkin and Reed - Sternberg (HRS) cells in classical Hodgkin Lymphoma (cHL) actively modify the immune tumor microenvironment (TME) attracting immunosuppressive cells and expressing inhibitory molecules. A high frequency of myeloid cells in the TME is correlated with an unfavorable prognosis, but more specific and rare cell populations lack precise markers. Myeloid-derived suppressor cells (MDSCs) have been identified in the peripheral blood of cHL patients, where they appear to be correlated with disease aggressiveness. TNFRSF9 (CD137) is a T cell co-stimulator expressed by monocytic and dendritic cells. Its expression has also been described in HRS cells, where it is thought to play a role in reducing antitumor responses. Here, we perform qualitative and quantitative analyses of lymphocytic and MDSC subtypes and determine the CD137 cell distribution in cHL primary tumors using multiplex immunofluorescence and automated multispectral imaging. The results were correlated with patients' clinical features. Cells were stained with specific panels of immune checkpoint markers (PD-1, PD-L1, CD137), tumor-infiltrating T lymphocytes (CD3, PD-1), and monocytic cells/MDSCs (CD68, CD14, CD33, Arg-1, CD11b). This approach allowed us to identify distinct phenotypes and to analyze spatial interactions between immune subpopulations and tumor cells. The results confirm CD137 expression by T, monocytic and HRS cells. In addition, the expression of CD137, T exhausted cells, and monocytic MDSCs (m-MDSCs) in the vicinity of malignant HRS cells were associated with a worse prognosis. Our findings reveal new elements of the TME that mediate immune escape, and confirm CD137 as a candidate target for immunotherapy in cHL.

CD137-expressing immune cells and HRS cells are more abundant and in closer proximity in refractory patients than in responders.Monocytic myeloid-derived suppressor cells (m-MDSCs) are associated with unfavorable outcomes and relapse in cHL, unlike granulocytic MDSCs (g-MDSCs), which are located far from HRS cells in non-responders.The cHL tumor microenvironment promotes immune escape in refractory patients by holistically driving polarization and/or recruitment of several cell types with increased expression of CD137 and PD-L1 checkpoints.

Trends in Multicomponent Training Research in the Aged Population: A Bibliometric Analysis.

The proportion of aged populations is increasing worldwide. Exercise has a palliating effect on some adverse implications of aging. Multicomponent training (MCT) is a recommended form of exercise for the aged population. The aims of this research were to (1) study the number of publications regarding MCT in the aged population following an exponential growth rate; (2) identify the journals, authors, and countries that stand out the most in this area; and (3) describe the most common themes and used keywords in this field. The analysis was performed through the traditional laws of bibliometrics, including, Price's, Lotka's, Bradford's, and Zipf's law. All documents published in journals indexed in the Web of Science (WoS) Core Collection from 2001 to November 2023 that met the inclusion criteria were included. The 485 documents included in this review revealed that the number of annual publications experienced an exponential growth phase, 15 journals with six or more publications formed the core journals on this topic, and the author Mikel Izquierdo and his collaborative network topped the lists of prominent and prolific co-authors. Spain was the leading country in number of publications. Various thematic lines and keywords regarding strength, sarcopenia, quality of life, falls, balance, dual-task exercise, and cognitive and physical functioning were identified. In conclusion, this work confirmed that research on this topic is going through an exponential growth phase and provided detailed information about the journals, authors, and countries involved in the subject, as well as the keywords most frequently used in the subject matter.

High-Intensity GPS-Derived Parameters in Semi-Professional Soccer: Home vs. Away Roles of the Team and Their Relationship with the Match's Final Score.

High-intensity activities are related to success in football. We looked at whether high-intensity activity differed between home and away matches and its impact on the final score. Thirty football players (20.3 ± 0.8 years) were recruited from a Spanish semi-professional team. Footballers wore a GPS device to monitor high-intensity parameters from competition matches. The final score of every match was also recorded. Playing at home showed greater total distance (TD) > 24 km/h, >27 km/h, >85% Vmax, and the number of sprints > 24 km/h (all p < 0.05) than playing away. Positive correlations were also found between the match score and high-speed running (HSR) distance covered by the team per minute (r = 0.401), TD > 21 km/h (r = 0.417), TD > 24 km/h (r = 0.343), number of sprints > 24 km/h (r = 0.337), and HSR per minute (r = 0.459) (all p < 0.05). The results suggest that playing at home is associated with greater high-intensity effort than playing away. Moreover, the volume of high-intensity effort influences the final score.

Statistical approaches for assessing meat quality and heifer rumen histology based on dietary forage.

Introduction: Feeding local forages to ruminants is a promising strategy for enhancing metabolic processes, promoting sustainable farming, and improving product quality. However, studies comparing the effects of different forages on rumen histology and meat attributes of heifers are limited and variable. Material and methods: This study evaluated the benefits of incorporating local forages into heifer diets by comparing barley straw (BS) and oat hay (OH) on heifer attributes focusing on meat quality (MQ) and rumen status (RS). Sixteen crossbred (Charolais x Limousin) female heifers (7 months of age, 263 ± 10.50 kg) were randomly assigned to two dietary treatments (BS or OH) over 120 days. Results and discussion: Heifers fed OH showed enhanced RS (p < 0.05), characterized by improved intestinal epithelial integrity and a lower percentage of hyperpigmented cells, suggesting a potential reduction in inflammatory processes compared to BS, which may indicate a lower risk of metabolic diseases. Despite this, no significant differences (p > 0.05) were found in animal performance, chemical composition, and technological properties of the meat between the dietary groups, while lower levels (p < 0.05) of certain saturated fatty acids (C12:0, C15:0, and C22:0) were found in the meat from heifers fed OH. Principal component analysis (PCA) reduced the variables and demonstrated that all variables assessed can be condensed into four new variables explaining 75.06% of the variability. Moreover, biplot analysis reveals that the OH diet could be discriminated from BS. Our findings suggest that OH is a valuable fiber source, positively influencing certain heifer attributes, and supporting sustainable animal agriculture practices.

Serum biomarkers at disease onset for personalized therapy in multiple sclerosis.

The potential of combining serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels to predict disability worsening in multiple sclerosis (MS) remains underexplored. We aimed to investigate whether sNfL and sGFAP values identify distinct subgroups of patients according to the risk of disability worsening and their response to disease-modifying treatments (DMTs). This multicentre study, conducted across thirteen European hospitals, spanned from July 15, 1994, to August 18, 2022, with follow-up until September 26, 2023. We enrolled MS patients who had serum samples collected within 12 months from disease onset and before initiating DMTs. Multivariable regression models were used to estimate the risk of relapse-associated worsening (RAW), progression independent of relapse activity (PIRA), and Expanded Disability Status Scale (EDSS) score of 3. Of the 725 patients included, median age was 34.2 years (IQR, 27.6-42.4), and 509 patients (70.2%) were female. Median follow-up duration was 6.43 years (IQR, 4.65-9.81). Higher sNfL values associated with an elevated risk of RAW (HR of 1.45; 95% CI 1.19-1.76; P < 0.001), PIRA (HR of 1.43; 95% CI 1.13-1.81; P = 0.003), and reaching an EDSS of 3 (HR of 1.55; 95% CI 1.29-1.85; P < 0.001). Moreover, higher sGFAP levels were linked to a higher risk of achieving an EDSS score of 3 (HR of 1.36; 95% CI 1.06-1.74; P = 0.02) and, in patients with low sNfL values, to PIRA (HR of 1.86; 95% CI 1.01-3.45; P = 0.04). We further examined the combined effect of sNfL and sGFAP levels. Patients with low sNfL and sGFAP values (NLGL) exhibited a low risk of all outcomes and served as reference. Untreated patients with high sNfL levels showed a higher risk of RAW, PIRA, and reaching an EDSS of 3. Injectable or oral DMTs reduced the risk of RAW in these patients but failed to mitigate the risk of PIRA and reaching an EDSS of 3. Conversely, high-efficacy DMTs counteracted the heightened risk of these outcomes, except for the risk of PIRA in patients with high sNfL and sGFAP levels. Patients with low sNfL and high sGFAP values (NLGH) showed an increased risk of PIRA and achieving an EDSS of 3, which remained unchanged with either high-efficacy or other DMTs. In conclusion, evaluating sNfL and sGFAP levels at disease onset in MS may identify distinct phenotypes associated with diverse immunological pathways of disability acquisition and therapeutic response.

Impact of sex on clinical and laboratory parameters in patients with heart failure: insights from the Colombian Heart Failure Registry (RECOLFACA).

INTRODUCTION: Heart failure (HF) is one of the leading causes of morbidity and mortality worldwide. This study aimed to assess the impact of sex on sociodemographic, clinical, and laboratory parameters in patients with HF who were included in the Colombian Heart Failure Registry (RECOLFACA). METHODS: This was a cross-sectional analytical research. All 2528 patients included in RECOLFACA were analysed. The Mann-Whitney U test was used to compare median values as well as first and third quartiles (Q1-Q3). The age-related trend of NT-proBNP levels for both men and women groups was statistically evaluated. RESULTS: The study included 2528 patients with HF (1072 women and 1456 men). The echocardiographic evidence showed that men presented reduced left ventricular ejection fraction (LVEF) (79.63 vs. 69.75%, respectively; p < 0.001) more often than women, which had a significantly higher proportion of preserved LVEF (20.46 vs.11.24%, respectively; p < 0.001). Women displayed a higher value of systolic blood pressure (p < 0.001) and heart rate (p = 0.014) compared to men. Haemoglobin, creatinine, and sodium levels were significantly higher in men. Men had a considerably lower glomerular filtration rate value, with the median reaching a G3a value for chronic renal failure. According to age, the levels of NT-proBNP in each sex increased equivalently with age. CONCLUSION: Sex differences presented in this study are comparable to those discovered in other nations. However, certain variations show that these sex differences may differ by geographical area, which should encourage further investigations to describe them.

Diabetic foot ulcers: evaluating the role of the specialist advanced practice nurse in complex chronic wounds.

OBJECTIVES: To determine the profile of diabetes patients with neuropathic and neuro-ischaemic lesions who are referred to the advanced practice nurse (APN) in complex chronic wounds; to determine whether a training strategy aimed at primary care nurses and nursing homes that care for patients with diabetic foot disease influences the performance of professionals; and to assess the extent, follow-up and evaluation of diabetic foot disease in patients with neuropathic ulcers and neuro-ischaemic ulcers referred to the specialist APN before and after the training. METHODS: The characteristics of patients referred to the APN over a period of 6.5 years were analysed, as well as the numbers of amputations and deaths pre- and post-training. RESULTS: of the total of 103 patients, 78 were men; across both sexes the average age was 69 years. Fifty patients had neuropathic ulcers and 53 had neuro-ischaemic ulcers, with healing rates of 59%. There were 50 amputations and 37 deaths over the study period. CONCLUSION: Prevention of diabetic foot ulcers depends on having in place a fast, agile, practical clinical pathway between primary care and hospital, with the role of the APN, including the co-ordination of care between primary and secondary settings, being key.

Fluorinated trehalose analogues for cell surface engineering and imaging of Mycobacterium tuberculosis.

The sensitive, rapid and accurate diagnosis of Mycobacterium tuberculosis (Mtb) infection is a central challenge in controlling the global tuberculosis (TB) pandemic. Yet the detection of mycobacteria is often made difficult by the low sensitivity of current diagnostic tools, with over 3.6 million TB cases missed each year. To overcome these limitations there is an urgent need for next-generation TB diagnostic technologies. Here we report the use of a discrete panel of native 19F-trehalose (F-Tre) analogues to label and directly visualise Mtb by exploiting the uptake of fluorine-modified trehalose analogues via the mycobacterial trehalose LpqY-SugABC ATP-binding cassette (ABC) importer. We discovered the extent of modified F-Tre uptake correlates with LpqY substrate recognition and characterisation of the interacting sites by saturation transfer difference NMR coupled with molecular dynamics provides a unique glimpse into the molecular basis of fluorine-modified trehalose import in Mtb. Lipid profiling demonstrated that F-Tre analogues modified at positions 2, 3 and 6 are incorporated into mycobacterial cell-surface trehalose-containing glycolipids. This rapid one-step labelling approach facilitates the direct visualisation of F-Tre-labelled Mtb by Focused Ion Beam (FIB) Secondary Ion Mass Spectrometry (SIMS), enabling detection of the Mtb pathogen. Collectively, our findings highlight that F-Tre analogues have potential as tools to probe and unravel Mtb biology and can be exploited to detect and image TB.

Experience of Diagnosis and Initiation of Renal Replacement Therapy in Women with Chronic Kidney Disease.

Chronic kidney disease (CKD) has considerable effects on the quality of life of female patients. Receiving the diagnosis and beginning renal replacement therapy (RRT) has a great personal impact on patients. The purpose of this study was to describe the experience of female patients with CKD at an ambulatory dialysis unit regarding diagnosis, life changes, and initiation of RRT. A qualitative exploratory study was conducted based on a social contructivism framework. Participants were recruited using purposeful sampling. In total, 18 women who received treatment for CKD with RRT were included. The women were attending the Ambulatory Dialysis Unit at a hospital belonging to the public health system of Madrid (Spain). Unstructured and semi-structured in-depth interviews, researchers' field notes, and women's personal letters were used. A systematic text condensation analysis was performed. The criteria used to control trustworthiness were credibility, transferability, dependability, and confirmability. Two themes emerged from the data: (a) A turning point in their lives, and (b) The emotional journey of beginning RRT. The diagnosis of CKD and the beginning of treatment implies changing routines and adapting to a new life with CKD. The first dialysis and puncture of the arteriovenous fistula is a major experience. Support from other CKD patients with more experience is perceived as a necessity and a tool to share their experiences and resolve doubts among peers. The diagnosis and initiation of RRT leads to numerous changes in the lives of women with CKD, which may influence the acceptance of treatment.

The role of testosterone and cortisol levels in nonsuicidal selfinjury in adolescents.

INTRODUCTION: Nonsuicidal selfinjury (NSSI) is an important problem in adolescence, which is thought to serve several reinforcement functions (positive vs. negative, automatic vs. social). While the psychological mechanisms involved in NSSI are relatively well known, there is an important gap in the knowledge regarding the underlying biological mechanisms. This study examined the role of testosterone (T) and cortisol (C) in the frequency and reinforcement functions of NSSI. METHODS: A total of 423 adolescents (age range = 13-17; 54.4% girls) from Basque Country (Spain) provided saliva samples to determine T and C levels and completed measures of NSSI 6 months later in 2017-2018. RESULTS: The results showed that T but not C was significantly associated with higher NSSI frequency and the four types of NSSI functions. In addition, C moderated the predictive association between T and NSSI for automatic negative reinforcement, such that this association was significant only when C was high. Participant sex did not moderate any association between hormones and NSSI. CONCLUSIONS: These preliminary results suggest that testosterone levels can affect NSSI behaviors in adolescence, thus helping to explain the increase in NSSI during this stage. Moreover, in situations in which NSSI serves to alleviate negative internal states, high levels of cortisol can be involved.

Rational use of short-term anorectic drugs for one-year effective treatment of obesity: An analysis of four studies.

BACKGROUND: Obesity is a complex disease for which pharmacotherapy is often used. Anti-obesity drugs (AODs) are characterized by inducing a variable inter-subject body weight reduction (BWR), the attainment of a plateau after their maximal effect is achieved, and weight regain after drug discontinuation, which complicate individualized treatment of obesity. OBJECTIVE: This exploratory analysis aimed to compare the first-month body weight reduction in kg (1mo-BWRkg) and tolerance development (moT) of four known interventions with low (placebo), intermediate (phentermine or mazindol monotherapy), and high (5 active ingredients fixed-dose combination) efficacy, as predictors of their 6-month body weight reduction efficacy in percent (6mo-BWR%). In addition, a detailed analysis of the 6-to-12-month BWR follow-up in subjects under orlistat or diet and exercise regimens was performed. MATERIALS AND METHODS: The analysis included 662 adult subjects with obesity. After the construction of average efficacy and weight rebound curves, subjects were grouped into various 1mo-BWRkg, moT, and 6mo-BWR% intervals, or 6-month body weight rebound parameters for further evaluation. RESULTS: The 6mo-BWR% efficacy level of interventions was confirmed, although a general high intersubject variation was observed. 1mo-BWRkg + moT was found as an acceptable predictor of 6mo-BWR%. Between 50 and 80% of the 6-to-12-month follow-up completers maintained at least 5% BWR%. CONCLUSION: Short-term AODs are useful adjuvants for the 1-year rational treatment of obesity. 1mo-BWRkg + moT is an acceptable parameter to predict the 6mo-BWR% efficacy of these interventions.

Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.

BACKGROUND: Ring chromosome 14 syndrome is a rare disorder primarily marked by early-onset epilepsy, microcephaly, distinctive craniofacial features, hypotonia, intellectual disability, and delay in both development and language acquisition. CASE PRESENTATION: A 21-year-old woman with a history of epileptic seizures since the age of 1.5 years presented with distinctive craniofacial features, including a prominent and narrow forehead, sparse and short eyebrows, palpebral ptosis, horizontal palpebral fissures, a broad nasal bridge, a prominent nasal tip, a flat philtrum, hypertelorism, midfacial hypoplasia, horizontal labial fissures, a thin upper lip, crowded teeth, an ogival palate, retrognathia, and a wide neck. Additional physical abnormalities included kyphosis, lumbar scoliosis, pectus carinatum, cubitus valgus, thenar and hypothenar hypoplasia, bilateral hallux valgus, shortening of the Achilles tendon on the left foot, and hypoplasia of the labia minora. Chromosomal analysis identified a ring 14 chromosome with breakpoints in p11 and q32.33. An aCGH study revealed a ~ 1.7 Mb deletion on chromosome 14qter, encompassing 23 genes. Genomic instability was evidenced by the presence of micronuclei and aneuploidies involving the ring and other chromosomes. CONCLUSION: The clinical features of our patient closely resembled those observed in other individuals with ring chromosome 14 syndrome. The most important point was that we were able to verify an instability of the r(14) chromosome, mainly involving anaphasic lags and its exclusion from the nucleus in the form of a micronucleus.