Search Results (387)

Background: Preserving fertility in young women with cancer is crucial for comprehensive care. Based on GBD 2023 estimates, approximately 1000 women aged 15–39 are diagnosed with haematological malignancies annually in Italy. Guidelines recommend timely fertility preservation (FP) counselling for all at-risk patients, yet real-world access data remain limited. Methods: This multicentre, retrospective observational study analysed FP counselling for women aged 15–39 with haematological malignancies from 2015 to 2023. Counselling data were extracted from the Italian Assisted Reproductive Technology Registry (IARTR). This data collection system, known as PreFerIta, was developed within a project supported by the Italian Ministry of Health to collect data on Fertility Preservation (FP) treatments in oncology patients and/or those at risk of iatrogenic infertility, provided in seven specialised ART centres across Italy. The PreFerIta database includes data on both oocyte cryopreservation and ovarian tissue cryopreservation. Annual visits were related to the estimated regional incidence of new haematological malignancies (GBD 2023). Counselling-to-incidence ratios, absolute/relative gaps, and 95% confidence intervals (CIs) were calculated. Results: From 2015 to 2023, an estimated 4473 new haematological malignancies occurred in the catchment regions. Concurrently, 1200 FP counselling visits were recorded. While incidence modestly declined, counselling activity remained high. The counselling-to-incidence ratio increased from 17.33% in 2015 to 31.92% in 2018, stabilising between 26% and 31% thereafter (30.98% in 2023). The relative counselling gap decreased from 82.67% to 69.02%. These ratios represent lower-bound estimates of access to specialised oncofertility consultations. Conclusions: In this Italian network, approximately one in four to one in three incident haematological malignancies in young women were associated with specialised FP counselling. This reflects a substantial integration of oncofertility services into haematology care, highlighting opportunities to further strengthen referral pathways and achieve full guideline concordance. Full article

In Italy, access to public dental care is limited, and the characteristics of patients seeking hospital-based services are poorly described. A single-centre retrospective cross-sectional study was conducted, including all individuals attending their first appointment at the public Dental Clinic of Bari University Hospital (Southern Italy) between 1 January and 31 December 2023. Demographic and clinical variables, comorbidities, reasons for consultation, and travel distance from residence were retrieved from electronic records and analysed. Among 1361 patients (49% male; mean age 47.8 ± 23.3 years), most attended for oral surgery (35%) or oral pathology (17%), while other specialties accounted for the remaining visits. Many patients presented with multiple systemic conditions, particularly cardiovascular and metabolic diseases; however, a sizeable proportion were young, apparently healthy individuals who did not meet national eligibility criteria for publicly funded dental care. The dental clinic served a wide catchment area, including referrals from other regions. Documentation on education and behavioural risk factors was frequently incomplete. Overall, these findings show that complex oral medicine and oral surgery needs are concentrated in a small number of hospital clinics and support the expansion of Italian public dental services and improvements in routine data collection. Full article

Clinical data on antimicrobial profiles are useful for dairy udder health treatment programmes and represents a component of antimicrobial stewardship. The study aimed to determine the bacterial aetiology of clinical mastitis in dairy herds in Western Australia and to evaluate their antibiotic resistance profiles. This retrospective study utilised clinical antimicrobial profile data from two referral diagnostic centres within the region of Western Australia. A total of 545 mastitic samples were submitted for antimicrobial culture and testing over a period of 10 years (2008–2018). Of these, 406 showed bacterial growth and 139 no bacterial growth was observed. The most common isolates were Streptococcus uberis (25.3%), Staphylococcus aureus (17.2%), and Escherichia coli (9.4%). No growth was identified in 25.5% of the mastitis milk samples. The antimicrobial profiles revealed high susceptibilities towards cefuroxime (95.7%), clavulox (89.4%), and oxytetracycline (89%), whilst showing high resistance towards novobiovin (70%). From this study, it is concluded that there was a decline in the resistance trends towards the isolates of both S. uberis and S. aureus over the 10-year period and contagious mastitis had a higher occurrence. There is a need to consider surveillance programmes that determine the patterns of on-farm antimicrobial usage and further characterise the pathogens based on the presence of resistance antimicrobial genes. Data on antimicrobial surveillance represent an important component of antimicrobial stewardship. Full article

Background: Parents caring for preterm infants during hospital admission have unique needs. How these are addressed plays an important role in parents’ ability to cope with caregiving responsibilities. Educational programmes have proven beneficial to parents during their infant’s stay in the neonatal intensive care unit (NICU), for both parental and neonatal outcomes. Key components of parenting education during the NICU stay have been described; however, less is known about our understanding of parents’ educational needs, specifically in the South African context. Objectives: To explore parental needs and perceptions regarding a parenting education intervention provided to them while in the NICU, with a focus on programme content, structure, and mode of delivery. Methods: Three focus group discussions were conducted with mothers of preterm infants admitted to the NICU of a referral hospital in the North West province, South Africa. Inclusion criteria comprised parents of infants born in the hospital, singletons or multiples, with a gestational age below 37 weeks, and expected to stay in the NICU for at least 7 days. Discussions centred on mothers’ perceived needs regarding parenting education based on their experiences during their baby’s NICU admission. Results: Twenty-five mothers of singletons or multiples born before 37 weeks of gestation participated in the study. Three main themes were identified: (1) preference for content topics to include basic infant care, infant health and behaviours, and post-discharge related information; (2) education programme structure, which included instructional approaches and training logistics; and (3) support needs, including intrapersonal motivators, communication, and psychosocial and physical support. Conclusions: Participants recognised educational content needs that align with existing literature. However, they also emphasised the importance of addressing basic physical and emotional needs while receiving educational content, ensuring that parents feel empowered and capable of engaging with the information. Full article

Background/Objectives: This study aimed to characterize objective sleep measures in subacute acquired brain injury (ABI) and examine if disturbed sleep is associated with poor recovery outcomes. Another objective was to compare the functional connectivity of the brain between ABI poor sleepers and ABI normal sleepers as measured by resting state functional magnetic resonance imaging (rs-fMRI). Methods: This was a pilot, prospective, observational study of ABI subjects compared with age and gender-matched healthy controls. A total of 27 ABI subjects (consisting of ischemic or haemorrhagic stroke, or traumatic injury) were recruited from the outpatient clinics of a tertiary hospital with a neurological centre, and 49 healthy controls were recruited by word-of-mouth referrals. Study procedure involved subjective and objective sleep measures, self-report psychological measures, cognitive tests, and structural and functional MRI of the brain. Results: The frequency of poor-quality sleep was 66.67% in the ABI group and not significantly different from 67.35% in the control group when compared by chi-squared test (p = 0.68). ABI subjects with poor sleep had worse performance on a test of sustained attention (Colour Trails Test 1) than healthy controls with poor sleep when compared by Student’s t-test (mean 55.95 s, SD ± 18.48 vs. mean 40.04 s, SD ± 14.31, p = 0.01). Anxious ABI subjects have poorer sleep efficiency and greater time spent awake after sleep onset (WASO). ABI-poor sleepers show significantly greater functional connectivity within a frontoparietal network and bilateral cerebellum. Conclusions: Sleep problems after ABI are associated with poorer cognitive and psychological outcomes. ABI-poor sleepers exhibit altered functional connectivity within regions that contribute to motor planning, attention, and self-referential processes, suggesting that disrupted sleep after ABI may impair the integration of sensorimotor and cognitive control systems, and therefore, impair recovery. Full article

Background: Psychological services within hospitals are essential to delivering integrated, patient-centred care, yet in many health systems they remain fragmented, variably organised, or confined to specific medical specialties. The Clinical Psychology Unit of the Fondazione Policlinico Universitario Agostino Gemelli, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), represents one of the few examples of a hospital-wide psychological governance model in Italy, but its organisational structure and longitudinal activity have not previously been systematically described. Objective: This study (I) describes the organisational design and operational components of the Gemelli Unit; (II) compares it with international organisational models using a typological framework; and (III) examines its resilience and adaptive capacity during the coronavirus disease 2019 (COVID-19) pandemic. Methods: A descriptive–narrative approach was adopted, integrating institutional documentation, routinely collected service data (2019–2024), anonymised case vignettes, and a structured comparison with national and international psychological care structures. The analysis was informed by theoretical models of integrated health-care delivery and by Donabedian’s structure–process–outcome framework. Results: Between 2019 and 2024, psychological interventions increased from 28,878 to 47,076 (+63%), with a post-pandemic average of 41,868 annual interventions. In 2024, the Unit supported 2150 patients and 340 healthcare professionals, with psycho-oncology accounting for approximately one-third of all activities. The model integrates clinical activity, staff support, conflict management, research, and training under a centralised governance structure, ensuring hospital-wide coverage and coordinated referral pathways. The comparative analysis identified four international organisational types—department-based, liaison/specialty-based, structured health-system, and academic–clinical hybrid—highlighting the hybrid and transversal nature of the Gemelli Unit and its capacity to maintain and adapt services during the COVID-19 emergency. Conclusions: The Gemelli Unit represents a distinctive hospital-wide organisational model that combines centralised governance, transversal deployment, personalised care, and structured support for healthcare professionals. These characteristics position it as a potentially transferable benchmark for health systems seeking to integrate psychological care into core organisational and clinical processes. Future work should prioritise the development of standardised outcome indicators and national frameworks to support the evaluation and harmonisation of hospital-based psychological services. Full article

Background: Hepatocellular carcinoma (HCC) poses a significant public health challenge in Australia, with poorer survival observed in non-metropolitan populations. This study investigated whether survival disparities persist between non-metropolitan and metropolitan patients if only those with early-stage HCC treated at metropolitan tertiary referral centres are considered. Methods: We performed a retrospective cohort study across ten Australian tertiary centres involving patients with a new diagnosis of Barcelona Clinic Liver Cancer (BCLC) stage 0 or A, recorded from 1 January 2016 to 31 December 2020. Residential postcodes were entered using the Modified Monash (MM) model to define metropolitan versus non-metropolitan residence. The primary endpoint was adjusted for all-cause mortality. Results: Our study included 854 patients (metropolitan n = 612, and non-metropolitan n = 242) with a median follow-up of 42.6 months. We found no significant survival or mortality differences between the two groups with the unadjusted Kaplan–Meier survival analysis (log-rank test p = 0.612) and with the Cox proportional hazards regression analysis (adjusted HR 0.93, 95% CI 0.64–1.34, p = 0.690). As expected, tumour burden, Child–Pugh Score, and Charlson Comorbidity Index (CCI) were significant predictors of mortality. Conclusions: Our findings suggest that previously observed survival disparities may stem from delayed diagnosis and reduced access to tertiary care in non-metropolitan regions and highlight the need for improved HCC surveillance and referral pathways, particularly for rural and Indigenous communities, to mitigate geographic inequities. Full article

Background: Acquired haemophilia A (AHA) is a rare autoimmune disorder characterized by the development of autoantibodies against Factor VIII activity, leading to a significant reduction in its functionality. Clinically, AHA presents with an unexpected prolongation of activated partial thromboplastin time (aPTT) and spontaneous bleeding episodes in patients without any personal or family history of haemorrhages. Bleeding manifestations can be severe at presentation, making early diagnosis and prompt treatment essential to reduce morbidity and mortality. Methods: We report on a single-centre cohort of 35 patients with AHA (examined from 1984 to 2024), analysing their demographics, underlying conditions, bleeding characteristics, treatment and outcome. Results: The median age of patients at diagnosis was 69 years (ranging from 18 to 92), 15 were males and 20 females. AHA was idiopathic in 37% of cases, severe bleeding was observed in 54% of patients treated with bypassing agents. Recombinant activated Factor VII (rFVIIa) was administered in 79% of cases and activated prothrombin complex concentrate (aPCC) in 10%, with no significant differences in haemostatic response and no thromboembolic complications. Occurrence of major bleeding showed no significant association with sex, age group, underlying condition, baseline Factor VIII activity or inhibitor titre at diagnosis. A total of 69% of patients were treated with corticosteroids alone, and 23% received a combination of corticosteroids and cyclophosphamide. Two patients died, six were lost to follow-up after partial remission, and one relapsed without bleeds after complete remission. Statistical analyses highlighted that the FVIII inhibitor titre > 20 BU was the only significant prognostic factor affecting time to complete remission. Conclusions: These observations emphasize the critical role of clinical suspicion and timely referral to experienced centres with adequate laboratory support for the effective management of AHA. Full article

Background/Objectives: Infective endocarditis (IE) remains a severe and complex disease despite advances in diagnosis and treatment. The changing epidemiological profile, with an ageing population, has reshaped its presentation and management. This study describes the epidemiological, clinical and microbiological characteristics of IE at a Portuguese tertiary referral hospital prior to the establishment of a multidisciplinary Endocarditis Team. Methods: A retrospective analysis was conducted including all adult patients diagnosed with definite or possible IE according to the 2015 ESC criteria, admitted to ULS São João, Porto, between January 2019 and December 2023. Data were collected from electronic medical records and included demographic characteristics, comorbidities, microbiology, imaging, surgical indications and outcomes. Results: A total of 143 IE episodes were identified. Median age was 71 years, with a predominance of heterologous material-related infections (81%). Enterococcus faecalis, viridans group streptococci and coagulase-negative staphylococci were the most frequent pathogens. Surgical indication was present in 74% of cases, although surgery was not performed in 22% due to comorbidities or frailty, contributing to a high in-hospital mortality rate. Conclusions: This study provides a contemporary overview of IE in Portugal, reflecting an elderly, comorbid population and a predominance of prosthetic disease. The results highlight the need for multidisciplinary management and early surgical decisions, supporting the creation of Endocarditis Teams in tertiary centres. Full article

Canine steroid-responsive meningitis–arteritis (SRMA) is a systemic, immune-mediated, inflammatory disease which occasionally leads to spontaneous haemorrhage, both within and outside the central nervous system, as a possible complication. No previous studies have investigated the haemostatic profile in a cohort of dogs with SRMA using viscoelastic monitoring. The aim of this study was to assess haemostatic function in a cohort of dogs affected by SRMA using the Entegrion VCM (Viscoelastic Coagulation Monitor) Vet™ device. This was a multicentre prospective study conducted between April 2023 and April 2025 recruiting dogs with SRMA from four veterinary referral hospitals in the United Kingdom. All four research centres used the Entegrion VCM Vet™ device for evaluation of haemostasis. Twenty dogs were included in the study. One dog had a hypercoagulable VCM result, and two dogs were considered hyperfibrinolytic based on their VCM results. No dogs had any clinical signs of vascular complications (ischaemic and/or haemorrhagic stroke, haematomas, or haemorrhages). Although the pathophysiology of vascular events in dogs with SRMA remains unclear, the results of this study suggest that further investigations into the fibrinolytic system and endothelial structure in dogs affected by SRMA are warranted. Full article

Primary immune regulatory disorders (PIRDs) are a group of conditions characterised by a loss of immune tolerance. Two such disorders, CHAI and LATAIE, share common molecular mechanisms, leading to significant clinical overlap. Here, we report demographic, clinical, immunological, and molecular findings in 29 patients referred from different parts of India with a diagnosis of CHAI or LATAIE. LATAIE patients demonstrated a higher prevalence of consanguinity, while CHAI patients more often had a positive family history. Both disorders presented with overlapping clinical features, predominately autoimmune cytopenias, benign lymphoproliferation, and inflammatory bowel disease (IBD). However, the incidence of recurrent infections, otitis media, bronchiectasis, and hypogammaglobulinemia was higher among LATAIE patients as compared to CHAI. Flow cytometry analysis revealed significant differences in T cell subsets, particularly in percentages of CD4+ naïve cells and T regulatory cells (Treg), between the two disorders. B cell abnormalities were also observed. Molecular diagnosis was achieved using targeted or clinical exome sequencing, and specific protein expression was employed to validate the novel variants. Full article

Background: Severe (FIGO grade 3b & c) placenta accreta spectrum (PAS) is potentially a life-threatening condition due to catastrophic haemorrhage at delivery. Consequently, interventional radiology (IR) techniques are often employed to prevent massive blood loss, but this is not always readily available, is costly, and can cause significant morbidity, including distal limb ischaemia due to thrombus formation. We believe that internal iliac ligation under direct vision is a safe option to control bleeding. We sought to evaluate the short- and long-term outcomes relating to this technique compared to IR. Methods: This is a mixed-methods cohort study of women with severe PAS who underwent hysterectomy with either surgical devascularisation, as part of the Soleymani and Collins (SAC) technique, or IR insertion of internal iliac balloon catheters, in a UK tertiary referral centre for PAS between 2011 and 2022. Only women with intraoperative diagnosis of very severe PAS (FIGO stage 3b & c) were included in this study. Results: Of the 22 women invited to participate in the long-term component of the study, 59% agreed. Women in the surgical devascularisation group experienced no adverse short or late sequelae related to internal iliac arterial ligation. Pelvic devascularisation (11 patients, 41%) demonstrated a reduction in median estimated blood loss, 1600 millilitres vs. 2500 millilitres in the IR balloon catheter group (p = 0.04). Conclusions: We have demonstrated that the SAC technique for surgical devascularisation is a safe method for achieving haemorrhage control during caesarean hysterectomy for severe PAS. It also appears to be at least as effective at haemorrhage control as IR balloon occlusion of the internal iliac vessels. Full article

Background: Neurological immune related adverse events (N-irAEs) following immune checkpoint inhibitor (ICI) therapy are associated with significant morbidity and mortality. The early involvement of neurological services is therefore recommended to assist diagnosis and guide management. However, the practical experience of specialist neurology involvement is poorly understood. Methods: A multi-centre, retrospective case note review was performed in a unified healthcare setting in the United Kingdom via predetermined proforma to investigate the involvement and impact of neurology services in this setting. Results: One hundred and nine patients with N-irAE were identified with a median time from ICI treatment to symptom onset of 52 days. Neurology service models, reasons for referral and referral rates varied by centre. Overall, eighty-seven (79.8%) patients (range 52.9–100% by centre) had neurology involvement. Neurology input was associated with younger age (median 67.2 vs. 72.8 years), anatomical location (Central > Peripheral) and severity of neurotoxicity (p < 0.001, q < 0.004). Patients with neurology involvement were more likely to undergo specialist investigations: MR imaging (p = 0.041, q = 0.043), lumbar puncture (p < 0.001, q < 0.004), and neurophysiology (p = 0.005, q = 0.007) resulting in a broader range of specific N-irAE diagnoses. Steroids were appropriately prescribed, with second line treatment (Intravenous immunoglobulins/Plasma exchange) associated with neurology involvement. At lower grades (CTCAE ≤ 2), resolution rates were similar in those with or without neurology involvement. At grades 3–4, one-third of patients with neurology involvement had resolution. In a centre with a model of early neurology involvement for all possible N-irAEs the aetiology of the neurological presentation was changed in 63.7%. Conclusions: This study highlights the potential to improve diagnosis and treatment algorithms and therefore patient outcomes through development of uniform N-irAE models of care to support this area of growing clinical need. Full article

Background and Clinical Significance: Familial short stature is a common reason for referral in clinical genetics. While often attributed to a single genetic cause, genetic heterogeneity can complicate diagnosis and management. This report describes a family in which three distinct pathogenic variants in SHOX, PDE4D and ACAN caused overlapping phenotypes of familial short stature. Case Presentation: Clinical, radiological and molecular data were collected retrospectively at the Reference Centre for Constitutional Bone Diseases at Montpellier University Hospital. Targeted gene panels, whole genome sequencing and Sanger sequencing were employed to identify pathogenic variants. Variant interpretation followed the guidelines of the American College of Medical Genetics. A pathogenic SHOX variant (c.452G>A; p.Ser151Asn) was identified in the proband and her mother, which is consistent with dyschondrosteosis. A de novo PDE4D variant (c.671C>T; p.Thr224Ile) was identified in a cousin presenting with syndromic acrodysostosis. An ACAN splice variant (c.6833-1G>A) was detected in several family members and is associated with short stature and skeletal anomalies. An individual carrying both the SHOX and ACAN variants exhibited a more severe phenotype, suggesting an additive effect. Conclusions: This case study highlights the importance of systematic molecular investigations in families with overlapping yet heterogeneous phenotypes. Comprehensive genetic familial analysis enables personalized care and accurate genetic counselling, particularly when multiple diagnoses coexist. A family history should not preclude molecular testing, since similar phenotypes can result from different genetic causes. Full article

Background/Objectives: The beliefs about a disease and its treatment determine how patients and caregivers manage and adapt to the illness. The study aimed to explore the QoL and mental health of children with food allergy (FA), and parental illness perception, analyzing influences of sociodemographic and clinical factors and associations between constructs. Methods: This cross-sectional study involved 79 parents of children (3–12 years) with FA, who completed the Food Allergy Quality of Life Questionnaire—Parent Form (FAQLQ_PF), Strengths and Difficulties Questionnaire (SDQ), and Brief Illness Perception Questionnaire (B-IPQ). Pearson correlation coefficient and multiple linear regressions were performed. Results: FAQLQ score was positively associated (0.28) with SDQ score, particularly internalizing problems (0.33), and with B-IPQ score (0.64), consequences for the child and parents (0.66), timeline (0.43), and emotional representation (0.63). SDQ score was negatively associated with parental control (−0.27) and coherence (−0.24), while internalizing problems were negatively associated with parental control (−0.23) and positively associated with timeline (0.24). A greater number of allergens was associated with a worse QoL (p < 0.05). Previous anaphylaxis was associated with higher illness identity (p < 0.05). An age between 7 and 12 years was associated with lower control and coherence. In the final model, higher scores on internalizing problems, timeline, and emotional representation were associated with poorer child QoL (p < 0.001). Conclusions: It is crucial to understand and explore illness perception, as well as focus on psychosocial–emotional aspects of FA in both children and parents. A multidisciplinary approach addressing medical and psychological aspects of FA should be implemented to ensure optimal QoL. Full article