Search Results (3,765)

Background: Telemedicine may advance endometriosis care, but few initiatives are integrated in outpatient follow-up. A novel telemedicine approach—tele-patient-reported outcome measures (telePROM)—includes an endometriosis-specific questionnaire and phone and video consultations combined with text messaging (chat) with a multidisciplinary endometriosis team. This study explores how healthcare professionals experience telePROM and its integration in clinical practice. Methods: A qualitative study guided by interpretive description methodology. Data were generated through observations and focus group interviews conducted between January 2023 and March 2024 at a referral centre for endometriosis within a university hospital. A purposive sample of ten healthcare professionals comprising physicians, nurses and a medical secretary participated in the focus group interviews. Inductive analysis was inspired by interpretive description and carried out through an iterative process involving four steps, leading to the development of final themes and interpretation. Results: Three themes were identified from analysis: (1) Balancing Personalised Care With Increased Clinical Complexity; (2) Changing Professional Boundaries in a Digitally Supported Care Model; and (3) System Friction and Flexibility when Integrating TelePROM. Conclusions: Telemedicine improved endometriosis care by supporting patient-initiated and personalised consultations. However, sustainable, effective, and safe integration of telemedicine appears to require clinical experience, interdisciplinary collaboration, and supervision. Text communication (chat) proved to be an important element to ensure collection of additional information to complement patient-reported outcomes and it is essential for patient triage; yet it is rarely described in the literature. Ensuring organisational resilience during the digital transformation of healthcare requires ongoing training of healthcare professionals’ communicative and digital competences and may necessitate restructured technical support, including designated telemedicine experts in clinical practice to eliminate technical disruptions. These initiatives may contribute to and support the future implementation of telemedicine in healthcare. Full article

We report an unusual case of simultaneous left and right atrial appendage thrombosis identified on contrast-enhanced cardiac computed tomography angiography (CT) during pre-procedural evaluation in a patient with permanent atrial fibrillation and structural heart disease. Cardiac CT demonstrated well-defined filling defects within both atrial appendages on arterial and delayed phases, consistent with intracavitary thrombi. The patient was already receiving long-term oral anticoagulation for atrial fibrillation. In this case, antithrombotic management was not modified after multidisciplinary clinical assessment, as the patient remained asymptomatic and at high bleeding risk. This case highlights the diagnostic value of multiphasic cardiac CT in pre-procedural imaging, and underscores that systematic bilateral appendage assessment is essential, as right atrial appendage thrombus may otherwise go undetected. Full article

The incidence of cancer during pregnancy is rising, yet scientific understanding and clinical management remain underdeveloped. Delayed diagnoses, limited therapeutic options, and lack of safety data exacerbate the clinical challenges of treating cancer during pregnancy. Further, the biology of gestational cancers is poorly understood due to the scarcity of model systems and mechanistic studies. This manuscript presents a multidisciplinary perspective from a group of researchers and clinicians to evaluate the current state of pregnancy-associated cancers, identify unmet clinical and biological questions, and propose strategies to improve diagnosis, treatment, and maternal–fetal outcomes. Full article

Background: People living with HIV (PLWH) are increasingly reaching older ages due to the success of antiretroviral therapy. However, aging with HIV is associated with increased risk of multimorbidity, neurocognitive impairment, frailty, psychosocial stress, and functional decline. Multidomain geriatric screening framed within an Age-Friendly 4Ms Framework (Mentation, Medication, Mobility, What Matters Most) and consideration of multi-complexity may help identify aging-related vulnerabilities and guide multidisciplinary care with greater impact on patient outcomes. However, real-world implementation of such programs within HIV clinical settings remains limited. Methods: We conducted a retrospective analysis of adults aged ≥50 years enrolled in a multidisciplinary Healthy Aging Program within a large, integrated HIV care system. Multidomain screening assessments included cognitive evaluation (Montreal Cognitive Assessment), mental health screening (PHQ-2, GAD-2), functional assessment (Katz ADL, Lawton IADL), frailty screening (Edmonton Frail Scale), and intrinsic capacity domains using the WHO Integrated Care for Older People (ICOPE) framework. Screening results, referrals, clinical interventions, and cardiometabolic risk management measures were extracted from clinical program databases and electronic medical records. Results: A total of 317 adults aged ≥50 years completed multidomain screening. Participants had well-controlled HIV infection, with viral suppression in 96.2% and a median CD4 count of 660 cells/mm³. Despite this, aging-related vulnerabilities were common. Overall, 78.4% of participants had at least one abnormal screening domain. Cognitive impairment was identified in nearly half of individuals screened, including mild impairment in 39.8% and moderate impairment in 8.7%. Functional limitations were identified in 10.1% of participants, while anxiety symptoms were present in 9.5%. Sensory impairments were common, including vision impairment in 36.5% of participants. Polypharmacy was prevalent, with 33.2% of participants prescribed five or more chronic medications. Screening frequently generated multidisciplinary referrals, including behavioral health services (42.3%), social work support (42.9%), and pharmacist-led cardiometabolic risk review (56.8%). Age-stratified analyses demonstrated similar prevalence of screening abnormalities across age groups, including individuals aged 50–59 years. Modest improvements in cardiometabolic preventive care were observed during follow-up. Statin utilization increased from 65.6% at baseline to 70.0% at 12 months, and LDL cholesterol declined modestly during the observation period. Conclusions: Multidomain screening integrated into routine HIV care identified a high prevalence of aging-related vulnerabilities among PLWH aged ≥50 years despite excellent virologic control. These findings suggest that aging-related risk in HIV is not adequately captured by chronological age alone and support early, universal implementation of multidomain screening within HIV care models. Full article

Background: Wilms tumor (WT) rupture is a serious complication that upstages the disease and requires treatment intensification. This study evaluates clinical characteristics, radiological-pathological concordance, and survival outcomes of ruptured versus non-ruptured WT at a major Middle Eastern tertiary center. Methods: We conducted a retrospective cohort study of 111 pediatric patients with unilateral WT treated at King Hussein Cancer Center, Jordan, between October 2014 and December 2023 (follow-up to December 2025). Tumor rupture was defined by preoperative CT findings (peritumoral effusion, hemorrhage, or peritoneal nodules), intraoperative capsular breach/spillage, or pathological confirmation. Event-free survival (EFS) and overall survival (OS) were estimated using Kaplan–Meier methods and compared with the log-rank test. Multivariable Cox regression identified independent prognostic factors. Results: Tumor rupture occurred in 17 patients (15.3%). Ruptured cases were older (median 4.2 vs. 3.5 years, p = 0.03), had larger tumors (13.7 vs. 11.7 cm, p = 0.01), and presented with lower hemoglobin (7.9 vs. 10.4 g/dL, p < 0.001). All ruptured cases were stage III/IV, with 41% having distant metastases at diagnosis. Five-year EFS was 44.1% vs. 75.8% (p = 0.025) and OS was 58.2% vs. 81.4% (p = 0.002) for ruptured vs. non-ruptured groups. On multivariable analysis, rupture independently predicted death (HR 17.62, 95% CI 2.69–115.48, p = 0.003) and relapse (HR 8.1, 95% CI 1.66–39.57, p = 0.01). Conclusion: WT rupture is associated with advanced disease at presentation and significantly inferior survival. Substantial discordance between preoperative radiological/intraoperative findings and post-chemotherapy pathology highlights the “masking effect” of neoadjuvant chemotherapy. A multidisciplinary approach integrating initial imaging, surgical notes, and histology is essential to avoid undertreatment in SIOP-based protocols. Full article

Background/Objectives: Sacral giant cell tumor of bone (GCTB) is a rare, mostly benign but locally aggressive neoplasm that carries significant diagnostic and treatment challenges due to its anatomic complexity, proximity to sacral nerve roots as well as the blood vessels, and potential impact on bowel, bladder, sexual, and lumbopelvic function and stability. This narrative review aimed to synthesize current evidence on the epidemiology, clinical presentation, diagnostic evaluation, classification, management strategies, outcomes, and surveillance of sacral GCTB. Methods: A focused literature search of PubMed/MEDLINE and Google Scholar was conducted for studies published between January 2000 and January 2026, with additional manual review of reference lists. Given the rarity of the tumor and the observed heterogeneity in study designs, treatment strategies, and outcomes, the evidence was synthesized narratively. Results: Sacral GCTB mainly affects young adults with an indolent nature, often presenting late with progressive low back or buttock pain, radiculopathy, or neurological deficits. Magnetic resonance imaging is the preferred modality for determining local extent, whereas histopathologic biopsy and molecular testing remain essential for definitive diagnosis. Conventional grading systems, such as Enneking and Campanacci, have limited value in sacral disease, as anatomical extent and anticipated neurological morbidity are more relevant for treatment planning. Surgery remains the cornerstone for resectable disease, yet management plans should balance local tumor control against preservation of sacral nerve roots and mechanical stability. Denosumab, selective arterial embolization, and radiotherapy may play important roles in selected unresectable or high-morbidity cases. Local recurrence remains a major concern, and long-term surveillance is recommended because tumor relapse, treatment-related morbidity, and distant metastasis may occur late. Conclusions: Current evidence supports a multidisciplinary, individualized approach to sacral GCTB, guided by tumor extent, expected neurological morbidity, and patient-centered functional outcomes. Prospective multicenter studies are needed to refine treatment algorithms and improve risk stratification. Full article

Background/Objectives: Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder caused by deficiencies in enzymes required for heparan sulfate degradation. While primarily recognized for its devastating neurodegenerative course, the systemic extent of glycosaminoglycan (GAG) accumulation remains under-characterized. This study aims to provide a detailed multisystemic pathological mapping of MPS III to challenge the traditional “brain-only” disease paradigm and highlight the clinical relevance of extracerebral involvement. Methods: We present a comprehensive clinicopathological analysis of a 15-year-old female patient with a history of profound neuropsychomotor delay, refractory epilepsy, and spastic tetraplegia. Following her death due to terminal bronchopneumonia during palliative care, a complete forensic and pathological autopsy was conducted. Tissue samples from all major organ systems were processed using routine Hematoxylin–Eosin (HE) staining, immunohistochemical staining for CD68, and specialized histochemical stains to identify intracellular storage products. Results: Macroscopic evaluation revealed significant diffuse cerebral atrophy, meningoencephalic edema, cardiac valvulopathy with compensatory myocardial remodeling, and hepatosplenomegaly. Furthermore, erosive gastrointestinal lesions and degenerative renal changes were identified. Histopathological examination confirmed widespread cytoplasmic vacuolization across diverse cell populations, including neurons, hepatocytes, renal tubular cells, and the reticuloendothelial system. These findings demonstrate that GAG deposition is a generalized process affecting nearly every parenchymal structure. Conclusions: Although neurological decline dominates the clinical phenotype, our findings underscore that MPS III is a true systemic storage disorder. Significant involvement of the cardiovascular and visceral systems contributes to the disease’s complexity and mortality. This case reinforces the critical diagnostic value of a comprehensive autopsy in delineating the full morphological spectrum of Sanfilippo syndrome, providing essential insights for multidisciplinary management. Full article

Pathologic pregnancies including recurrent pregnancy loss, stillbirth, early-onset pre-eclampsia and early-onset fetal growth restriction form a continuous spectrum throughout gestation and have attracted wide attention. Autoimmune disorders and associated acquired thrombophilia are key etiological factors. However, because of the complicated associations between various clinical manifestations, laboratory examinations and treatments, the management of pathologic pregnancies with autoimmune disorders and associated acquired thrombophilia are difficult. This viewpoint article presents a comprehensive full gestation management strategy emphasizing early identification and multidisciplinary management to improve pregnancy outcomes in these patients. Future research should focus on novel biomarkers, therapeutic methods and crosstalk mechanisms between autoimmune disorders and thrombophilia to optimize clinical strategies. Full article

Background/Objectives: Midurethral sling (MUS) surgery is a standard treatment for stress urinary incontinence in women. Obturator-route MUS procedures reduce retropubic morbidity, but rare concealed hemorrhagic complications can be severe and rapidly progressive. This report describes a complex case of life-threatening hemorrhage, upper urinary tract extravasation, and delayed infection involving a persistent pelvic collection after obturator-route MUS. Methods: We reviewed the clinical course, imaging findings, interventions, and follow-up of a 77-year-old woman who developed severe complications after outpatient obturator-route MUS. A descriptive narrative summary of published hemorrhagic complications after TOT or TVT-O procedures was also performed. Result: On postoperative day 1, the patient presented with left lower abdominal pain, dizziness, vomiting, tachycardia, and severe anemia. Contrast-enhanced computed tomography showed active bleeding from the left obturator artery, an 11.5 cm pelvic hematoma with bladder displacement, and upper urinary tract contrast extravasation at the left renal pelvis and ureteropelvic junction. Emergency transcatheter arterial embolization and left percutaneous nephrostomy were performed, followed by delayed antegrade double-J ureteral stenting. Four months later, she developed E. coli urosepsis with a persistent 7.9 cm paravesical collection. Persistent symptoms despite initial antibiotic therapy required broad-spectrum antibiotics and percutaneous catheter drainage. The drainage fluid was serous, and S. hominis isolated from the drainage culture was interpreted as a contaminant; therefore, the collection was managed as a clinically suspected infection involving a persistent pelvic collection rather than as a microbiologically confirmed infected hematoma. Conclusions: After obturator-route MUS, severe abdominal or pelvic pain, dizziness, tachycardia, hypotension, or abrupt hemoglobin decline should prompt contrast-enhanced CT to evaluate for concealed pelvic arterial bleeding and associated urinary tract extravasation. Early multidisciplinary coordination and follow-up of persistent pelvic collections may be important in complex cases. Full article

Background: Pregnancy following liver and kidney transplantation is rare. The presence of a rare genetic disorder and advanced chronic kidney disease (CKD) further complicates clinical management, for which evidence-based guidelines are limited. Case presentation: A 29-year-old woman with Alagille syndrome underwent combined liver and kidney transplantation in early childhood. She had stage 4 CKD, and her baseline creatinine was around 250 umol/L. Her pregnancy was unplanned and diagnosed at 19+1 weeks of gestation. After the diagnosis of pregnancy, immunosuppressive therapy was promptly adjusted, and potentially teratogenic medications were discontinued. At 21+1 weeks’ gestation, creatinine and urea levels rose despite multidisciplinary management, and she started renal replacement therapy. Despite ongoing multidisciplinary care, the pregnancy was complicated by placental abruption at 24+5 weeks, requiring a preterm cesarean section. A live-born female infant weighing 590 g was delivered. Discussion: The coexistence of CKD, long-term immunosuppression, and high obstetric risk requires early multidisciplinary assessment and individualized management. Currently, standardized protocols for monitoring and treatment are lacking in this rare population, making clinical decision-making particularly challenging, especially regarding CKD progression. Conclusion: Pregnancy in women with combined liver and kidney transplantation and advanced CKD carries a high risk of severe renal and obstetric complications. Preconception counseling and early referral to multidisciplinary teams may help improve management in similar rare clinical scenarios. Full article

Carbohydrate antigen 19-9 (CA19-9) is widely used as a tumor marker in gastrointestinal malignancies; however, its clinical significance in patients undergoing resection for colorectal liver metastases (CRLM) remains unclear. This review summarizes current evidence regarding the prognostic value of CA19-9 in CRLM, with particular emphasis on its role compared with carcinoembryonic antigen (CEA) and its integration into modern prognostic models. Across multiple cohort studies, elevated preoperative CA19-9 levels have consistently been associated with worse recurrence-free and overall survival after hepatectomy. In several multivariable analyses, CA19-9 emerged as a significant prognostic factor whereas CEA did not. CA19-9 has also been incorporated into several prognostic scoring systems and nomograms, including the JSHBPS nomogram (Beppu score) and the Imai nomogram, highlighting its value as a surrogate marker of potentially unfavorable tumor biology. Reported cutoff values vary widely across studies, ranging from near-normal levels (34–37 U/mL) to higher thresholds (100–200 U/mL), and the optimal cutoff remains uncertain. In addition to its role as a categorical risk factor, dynamic changes in CA19-9 during preoperative chemotherapy may provide additional prognostic information. Routine assessment of CA19-9 together with CEA at CRLM diagnosis and during perioperative management may improve risk stratification and guide personalized multidisciplinary treatment strategies. Full article

Background and Clinical Significance: NMDAR autoimmune encephalitis is a rare but potentially life-threatening autoimmune disorder that can be hard to recognize initially because it has nonspecific symptoms. In the early phase of the disease, clinical presentation is often dominated by psychiatric symptoms, which can be misleading. A diagnosis is established by demonstrating specific anti-NMDA receptor antibodies, with cerebrospinal fluid analysis considered the most reliable diagnostic method. Timely initiation of immunomodulatory therapy, including corticosteroids, intravenous immunoglobulins, and therapeutic plasmapheresis, significantly improves disease outcomes, while second-line therapies are used in refractory cases. Case Presentation: A 21-year-old female patient (M.B.) was admitted to the Psychiatry Clinic at the University Clinical Center of Vojvodina due to the sudden onset of behavioral changes, including social withdrawal, absence of verbal communication, and unusual orofacial grimacing. During hospitalization, the patient was intermittently in a state of severe psychomotor agitation and poorly communicative, with pronounced orofacial dyskinesias and involuntary tongue movements. Anti-NMDA receptor autoantibodies were detected in both serum and cerebrospinal fluid, and the patient was subsequently transferred to the Intensive Care Unit of the Neurology Clinic. Due to the lack of an adequate clinical response to pulse corticosteroid therapy, six cycles of therapeutic plasmapheresis were performed. Following this treatment, significant clinical improvement was observed. Conclusions: Timely recognition of this condition and a multidisciplinary approach allow for early initiation of immunomodulatory therapy and significantly improve treatment outcomes. Full article

Background: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is a major extra-articular manifestation of rheumatoid arthritis (RA), contributing substantially to morbidity, mortality, and patient burden. Its diagnosis and management require integration of rheumatologic, pulmonary, and radiologic perspectives. Multidisciplinary approaches may provide a practical framework for implementing personalized medicine by integrating clinical and immunologic heterogeneity into individualized care strategies, although real-world data remain limited. Objectives: To synthesize primary studies published between 2015 and 2025 examining diagnostic, organizational, educational, and clinical aspects of RA-ILD within a multidisciplinary care framework. Methods: A narrative review of original research was conducted using PubMed and major publisher platforms from 1 January 2015 to 30 November 2025. Search terms included “rheumatoid arthritis,” “interstitial lung disease,” “RA-ILD,” “connective-tissue disease ILD,” “multidisciplinary,” “diagnosis,” “management,” and “patient experience.” Reviews and consensus statements were excluded. Results: Fifteen articles underwent full-text review, and five primary studies met all inclusion criteria and were incorporated into the final synthesis. RA-ILD emerged as a condition requiring coordinated interpretation of imaging, pulmonary physiology, and rheumatologic features. Multidisciplinary evaluation may improve diagnostic accuracy, reduce unclassifiable ILD, and support differentiation of autoimmune-related from idiopathic disease. A global assessment of ILD multidisciplinary team practices revealed substantial variability in structures and processes. Patient-reported data demonstrated significant emotional distress and a need for clearer communication and coordinated educational support. Conclusions: Effective RA-ILD management depends on collaborative assessment across specialties. Multidisciplinary care may support diagnostic precision and provide a practical framework for personalized medicine by integrating clinical, radiologic, and immunologic heterogeneity into tailored diagnostic and therapeutic strategies. Full article

Neurodegenerative diseases are among the most consequential disorders of later life, not only because of their increasing prevalence, rising from approximately 1–2% at age 65 to over 30% by age 85, but also because they develop within the broader clinical context of ageing, multimorbidity, frailty, and polypharmacy. In older adults, these conditions rarely present as isolated and static diagnostic entities; rather, they unfold as dynamic clinical trajectories involving the progressive interaction of cognitive decline, behavioural-neuropsychiatric symptoms, and extrapyramidal-motor dysfunction. In this review, we propose a trajectory-based framework for the interpretation and management of major neurodegenerative disorders in later life, including Alzheimer’s disease, frontotemporal dementia, Parkinson’s disease and Parkinson’s disease dementia, dementia with Lewy bodies, and vascular cognitive impairment. Building on a conceptual model organized around three major symptom spheres: cognitive, behavioural-neuropsychiatric, and extrapyramidal-motor, we argue that each disorder can be understood according to the relative predominance and temporal evolution of these domains. Alzheimer’s disease is typically cognition-led, frontotemporal dementia behaviour-led, and Parkinsonian syndromes motor-led, whereas dementia with Lewy bodies shows early multidomain convergence across all three spheres simultaneously. Vascular and mixed dementias follow more heterogeneous trajectories shaped by lesion burden, network disruption, and copathology. This framework has direct implications for diagnosis, prognostic stratification, and treatment selection, because interventions targeting one sphere may destabilize another and generate prescription cascades, delirium, or functional decline. We further discuss how biomarker-based diagnosis, disease-modifying therapies, non-pharmacological interventions, multidisciplinary care, deprescribing strategies, and palliative planning can be integrated within a trajectory-based approach. Interpreting neurodegeneration through clinical trajectories rather than diagnostic labels alone offers a more realistic and therapeutically useful model for precision geriatric neurology across the full course of disease. Full article

Background: Pregnancy presents unique immunological and obstetrical challenges for women with Common Variable Immune Deficiency (CVID). No standardized guidelines currently exist to guide pregnancy management, as CVID is a rare diagnosis, with pregnancy outcomes limited to case reports and case series. Establishing a structured approach to care is important to optimize maternal and fetal outcomes. Methods: A narrative review of the literature with a structured search was performed to detail pregnancy outcomes in CVID and management strategies. A 10-year retrospective chart review of women with CVID who became pregnant while receiving care at the McGill University Health Centre between January 2015 and January 2025 was conducted to add to the existing clinical data. Results: Pregnancy outcomes were improved through pre-conception planning, regular serum Immunoglobulin G (IgG) monitoring, trimester-based immunoglobulin replacement dose adjustments, proactive management of autoimmune or infectious complications, and multidisciplinary care. Subcutaneous immunoglobulin may offer better flexibility and stability of IgG levels. Conclusions: In the available observational literature and our institutional experience, many patients with CVID have carried pregnancies to term with favorable maternal and neonatal outcomes when managed with IgRT and multidisciplinary coordination. We outline a stepwise multidisciplinary framework for clinicians caring for women with CVID who are planning or undergoing pregnancy, and we identify gaps in knowledge for future studies. Full article