Pulmonary alveolar proteinosis (PAP) is a rare condition characterised by impaired alveolar macrophage-mediated surfactant clearance, resulting in the accumulation of lipoproteinaceous material within the alveoli. Secondary PAP has been associated with certain medications. Ruxolitinib, a Janus kinase 1/2 inhibitor has recently been implicated in rare cases of PAP.We report the case of a woman in her early 60s treated with ruxolitinib for chronic pulmonary graft-versus-host disease following an allogeneic haematopoietic stem cell transplant for acute lymphoblastic leukaemia, who developed progressive exertional dyspnoea. High-resolution CT demonstrated a 'crazy paving' pattern, and bronchoalveolar lavage revealed periodic acid-Schiff positive granular material consistent with PAP. Microbiological studies were negative. Ruxolitinib was discontinued with subsequent symptomatic, radiological and lung function improvement.This case highlights ruxolitinib as a potential cause of secondary PAP and emphasises the importance of considering this rare complication in patients who develop new respiratory symptoms while receiving ruxolitinib.
This case report delineates a case of female patient in her early 20s who presented with a rapidly proliferating mass in the posterior right mandibular region that evolved over a 4-month temporal interval. The patient's primary symptomatology encompassed progressive mandibular discomfort, masticatory dysfunction, paraesthesia of the inferior labial region, spontaneous haemorrhage from the affected site and dental mobility. The lesion exhibited aggressive growth kinetics and was concomitant with significant osseous alterations. The patient's demographic profile, the anatomical predilection of the neoplastic growth, its accelerated proliferative behaviour and distinctive morphological characteristics posed considerable diagnostic challenges. This case exemplifies the infrequent manifestation of such pathological entities in the posterior mandibular region and illuminates the complexities encountered by clinicians when confronted with lesions presenting in atypical anatomical distributions. The presentation accentuates the imperative of incorporating rare pathological entities into the differential diagnostic framework when patients manifest rapidly expanding intraoral masses demonstrating aggressive biological behaviour and clinical progression patterns.
Oral malignant melanoma (OMM) is a rare and aggressive malignancy, and involvement of the tongue is particularly uncommon. We report a case presenting with two isolated pigmented tongue lesions clinically resembling benign conditions. Excisional biopsy of the anterior lesion confirmed melanoma, and the tongue base lesion was clinically suspected to represent possible in-transit metastasis. To our knowledge, in-transit metastasis in OMM is not well documented. The patient underwent wide local excision followed by adjuvant pembrolizumab based on cutaneous melanoma guidelines. Final pathological staging was pT3b pN1c cM0 (stage IIIC). At 1-year follow-up, no recurrence or metastasis was observed and oral function was preserved with a palatal augmentation prosthesis. This case highlights diagnostic challenges and the importance of early biopsy and multidisciplinary management. Additional cases and further multicentre studies are needed to validate these observations and guide the development of standardised treatment protocols in the diagnosis and management of OMM.
The healthcare challenges associated with multimorbidity, population ageing and socioeconomic disadvantage are well known. This requires primary care services to adapt to greater population complexity and embrace new models of care. One example is the community paramedic (CP) role, which can provide screening, education and care coordination for complex and underserved populations. While relatively new in Australia, CPs have the potential to bridge primary care gaps especially in rural settings with workforce shortages. In this study, we are implementing an established and evidence-based Canadian CP programme (CP@clinic) in a new context: rural Australian community health services. The aim of our realist evaluation is to explore and explain how, why, for whom and in what circumstances CP@clinic works to improve health and social outcomes; benefit the paramedic workforce; bridge the gaps in primary healthcare and reduce emergency healthcare utilisation. Realist methodology is a theory-driven approach that explores how the causal mechanisms of an intervention are shaped by different contexts, leading to a variety of outcomes. We have developed an initial programme theory based on the Canadian experience and an earlier Australian pilot of CP@clinic. We will collect qualitative and quantitative data, including individual health and social outcomes, emergency services usage, healthcare costs, case reports, interviews with participants, paramedics and external stakeholders and process data. Analysis will follow a realist paradigm, using retroduction to compare findings to the original programme theory enabling us to confirm, refute and interrogate the proposed mechanisms. Ethical approval has been granted (McMaster University HiREB15194; La Trobe University HEC24495, 22038 and 22295). We have developed a multilevel dissemination plan to inform government, the paramedic profession, project stakeholders and consumers. The work is funded by the Australian government with annual reports provided. Other dissemination products will include journal articles, conference presentations, government presentations and submissions, an implementation guidebook and national webinar.
Acute disseminated encephalomyelitis (ADEM) is a rare, immune-mediated demyelinating disorder of the central nervous system that typically follows viral or bacterial infections. There are only two known case reports that describe an association with ADEM post rickettsial infection. A female in her 80s presented with progressive neurological decline, including dysarthria, dysphagia and hemiparesis, following recent treatment in Hong Kong for rickettsial infection. Initial CT brain imaging showed a right subcortical infarct. She deteriorated with encephalopathy and respiratory failure, requiring intubation. MRI revealed extensive brain and spinal demyelination. Infectious, autoimmune and paraneoplastic investigations were negative, while serology revealed markedly elevated spotted fever group antibodies. Treatment with high-dose corticosteroids and plasma exchange therapy resulted in significant neurological recovery. She was discharged after rehabilitation with a good recovery at 70%-80% of pre-morbid function. This case supports a possible post-infectious immune-mediated mechanism linking rickettsia and ADEM and underscores the importance of early recognition and treatment of ADEM.
Clostridium perfringens is an anaerobic spore-forming bacterium capable of producing fulminant infections through potent exotoxins. We report the case of an elderly man with multiple comorbidities who presented with acute abdominal pain and vomiting. Within 24 hours, the patient developed abrupt clinical deterioration characterised by altered mental status, rapidly progressive anaemia, metabolic acidosis and multiorgan dysfunction. A CT scan demonstrated multiple gas-containing hepatic lesions without a well-defined fluid collection, compatible with emphysematous hepatitis. Blood cultures rapidly confirmed C. perfringens Despite prompt escalation of antimicrobial therapy and intensive supportive management, the patient developed progressive multiorgan failure and died 96 hours after admission. Although C. perfringens liver abscesses associated with haemolysis have been previously described, reports combining fulminant haemolysis with a radiological pattern consistent with emphysematous hepatitis remain exceedingly rare. This case highlights the importance of early recognition of this catastrophic presentation and the need for immediate antimicrobial therapy and source control whenever feasible.
Cataract surgery is typically considered routine, especially when preoperative things are normal. We present a rare intraoperative complication where the cataractous lens nucleus dropped into the vitreous cavity immediately following viscoelastic injection-prior to capsulorhexis-in a patient with Fuchs' heterochromic iridocyclitis and no overt signs of zonular instability or capsular pathology. The case underscores the need for heightened surgical awareness in seemingly uncomplicated cataract cases, particularly in the presence of subtle clinical history. Surgical management included anterior capsulorhexis, pars plana vitrectomy, lensectomy and sulcus intraocular lens (IOL) implantation. In cases of total cataract, it is imperative to implement preventive strategies despite seemingly unremarkable preoperative findings. Preparedness with alternative IOL options, such as a three-piece IOL, and ensuring the availability of a vitreoretinal surgical team will be helpful if anything seems abnormal.
We report a rare case of cough-induced chest wall trauma with spontaneous intercostal lung herniation complicated by haemothorax. A man in his early 70s with chronic obstructive pulmonary disease, asthma and prior thoracic trauma presented with chest pain. Initial investigations focused on a cardiac cause due to elevated troponin levels. During admission, he developed extensive ecchymosis over the flanks, abdomen and back, prompting CT imaging of the abdomen that included the lung bases. This revealed new intercostal lung herniation that was not present on CT pulmonary angiography performed 4 days earlier. Clinical deterioration necessitated surgical intervention, including haematoma evacuation, reduction of herniated lung and costal arch repair. Flexible bronchoscopy was performed for secretion clearance and microbiological sampling. This case highlights the importance of considering spontaneous lung herniation following forceful coughing in patients with recognised risk factors.
An exceptionally rare case of dual Mendelian molecular diagnosis is presented in a young male with both PAX6-associated congenital aniridia and RPGR-related X-linked retinitis pigmentosa. The patient presented in childhood with photophobia, iris hypoplasia, foveal hypoplasia on optical coherence tomography and reduced multifocal electroretinography amplitude, consistent with PAX6-related aniridia confirmed by familial variant testing. In early adulthood, progressive nyctalopia, visual field constriction and widespread peripheral pigmentary retinopathy emerged. Whole-exome sequencing revealed a second pathogenic variant in RPGR, establishing a dual diagnosis. This case underscores that atypical or complex ocular phenotypes may reflect co-occurrence of independent genetic disorders. Comprehensive anterior and posterior phenotyping combined with broad genetic testing optimises diagnostic yield. Management requires lifelong multidisciplinary follow-up addressing each condition separately, plus genetic counselling to clarify distinct inheritance patterns (PAX6: autosomal dominant; RPGR: X-linked).
An immunocompetent, non-diabetic man in his 90s presented to A&E with headache and sudden-onset left abducens nerve palsy. He was treated for recurrent left otitis externa six months previously, with a normal CT of the petrous bone at the time.Ear appearances were unremarkable, but CT petrous bones revealed extensive skull base osteomyelitis extending to the petrous apex. MRI skull base and nuclear medicine technetium-99m hexamethylpropyleneamine-oxime white cell scanning confirmed active osteomyelitis.Necrotising otitis externa (NOE) is a complication of otitis externa and is more common in the elderly and immunosuppressed. Facial nerve palsies can occur due to anatomical proximity but there are only two other reported cases of isolated abducens nerve palsy associated with NOE. This case highlights the importance of fully treating otitis externa and the complexities of managing NOE in elderly and frail patients. It also illustrates the use of different imaging modalities to differentiate active and historic osteomyelitis.
To map the current evidence on components of fitness, physical activity and health-related quality of life, in addition to common fitness and health-related quality of life outcomes and assessment tools, explore existing evidence on the design and effects of muscle-strengthening activities on health-related quality of life, and map the research on the barriers and facilitators to engagement in physical activities, specifically muscle-strengthening activities, in adults living with fibromyalgia. Scoping review of published articles. Electronic databases (PubMed, SPORTDiscus, SCOPUS, CINAHL, Cochrane Library, MedLine and Google Scholar) and reference searching were included from the earliest date to March 2025. Studies were included if they assessed components of fitness, physical activity, health-related quality of life and/or muscle-strengthening activities in relation to fibromyalgia and were published in English. Articles containing reviews, case reports, protocols, editorials or opinion pieces were excluded. 79 articles were included in the scoping review. Compared with healthy controls, individuals with fibromyalgia have decreased muscle strength, cardiovascular fitness, agility, balance and flexibility levels of physical activity and health-related quality of life. The fibromyalgia impact questionnaire, 36-item short-form health survey and visual analogue scale were predominant tools used to assess health-related quality of life, though methods varied considerably across studies. Muscle-strengthening activity intervention study designs were heterogeneous, although progressions during resistance-based strength exercise emerged as a promising modality to improve health-related quality of life. Currently, the barriers to and facilitators of muscle-strengthening activities are underexplored. This scoping review highlights substantial heterogeneity in health-related quality of life assessment tools and muscle-strengthening activity intervention design in adults with fibromyalgia. While muscle-strengthening activities appear beneficial, the absence of standardised protocols limits the comparability of studies. Moreover, further work is needed within qualitative research to understand the barriers to engagement in muscle-strengthening activities to further inform the development of tailored, patient-centred muscle-strengthening programmes. 10.17605/OSF.IO/DJWBQ.
Dural arteriovenous fistulas (dAVFs) involving the optic nerve sheath are rare and often present subtly. We report a case of a woman in her 50s with a month-long history of left eye redness, swelling and watering. Examination revealed proptosis and chemosis without vision loss or cranial nerve deficits. MRI showed a dilated superior ophthalmic vein (SOV), initially suggesting a carotico-cavernous fistula. However, digital subtraction angiography confirmed a slow-flow intraorbital dAVF supplied by the left ophthalmic and accessory meningeal arteries, draining via the SOV. Conservative management with carotid compression failed, and after 1 year, worsening symptoms and thrombosed venous outflow precluded standard endovascular access. A direct ultrasound-guided SOV puncture was performed using a micropuncture needle. Embolisation with detachable coils and Menox 18 achieved complete fistula occlusion, with clinical improvement. This case highlights the role of catheter angiography in diagnosing intraorbital dAVFs and demonstrates the feasibility of direct SOV puncture when conventional routes are inaccessible.
The incidence of dengue fever (DF) is rapidly rising and acute liver failure (ALF) is a rare but life-threatening associated complication. We present an adult patient who underwent standard-volume plasma exchange (PLEX) promptly after diagnosis of DF-associated ALF. PLEX of 1.5 times plasma volume was started on the same day of ALF diagnosis with the replacement fluid comprising 2.0 L of fresh frozen plasma and 1.0 L of 5% albumin. The patient's hepatic encephalopathy resolved the following day, and his biochemical profile significantly improved without additional cycles of PLEX and he was discharged well. This case report describes the rapid initiation of PLEX within hours of hepatic encephalopathy onset, using a single cycle of standard-volume PLEX alone without the influence of other therapeutic confounders. This case contributes to the evolving literature on the optimal timing and volume of PLEX in DF-ALF.
Condyloma acuminata is an uncommon epithelial proliferative and infiltrative growth associated with human papillomavirus (HPV) subtypes 6 and 11. Giant condyloma acuminata is a more aggressive variant characterised by extensive growth, anatomical disfigurement, psychosocial morbidity and a high recurrence rate. Extragenital involvement in an immunocompetent individual is uncommonly reported in the literature. We report a case of an immunocompetent young woman who developed a rapidly progressive verrucous growth involving the vulva, lower vagina, perianal region and also extragenital sites (inframammary fold and axilla). Pelvic MRI demonstrated a large exophytic lesion without underlying stromal involvement. Complete surgical excision with histopathological confirmation demonstrated condyloma acuminata with low-risk HPV type 11. Early recurrence occurred within 3 months, which was managed by topical medication. This case highlights the importance of clinical examination, the role of MRI followed by surgical excision with long-term follow-up even in immunocompetent patients.
Invasive fungal infection is among the top causes of late-onset sepsis in preterm infants. Typical signs of infection are often absent, making the recognition of subtler signs critical for diagnosis. We report the case of a moderate preterm infant born to a mother with chorioamnionitis following prolonged preterm premature rupture of membranes and a prolonged course of antenatal antibiotics. On day 6, the infant exhibited recurrent non-specific symptoms which were often attributed to prematurity while the infant remained persistently afebrile. Profound progressive thrombocytopenia in the absence of overt fever prompted evaluation for fungal sepsis. Candida tropicalis was identified by blood culture and plasma targeted next-generation sequencing. A guideline-adherent antifungal regimen led to subsequent improvement.This case underscores that in moderate preterm infants presenting with non-specific symptoms and significant thrombocytopenia, even in the absence of fever, prompt evaluation for fungal sepsis is warranted. It also suggests that incorporating the duration of maternal antenatal antibiotic exposure into risk assessment could potentially help identify moderate preterm infants who might benefit from antifungal prophylaxis.
'Time is brain' is an important concept in ischaemic brain stroke, where expeditious intervention is essential for the preservation of neural tissue. Therapeutic strategies involve the prompt administration of thrombolytic agents and in select circumstances the implementation of mechanical thrombectomy. Central retinal artery occlusion (CRAO) constitutes an ophthalmological emergency and is a form of ischaemic stroke, frequently resulting in profound and irreversible visual impairment. There are currently no universally accepted guidelines delineating the optimal therapeutic time window. In this report, we present the case of a man in his 60s who developed acute, painless monocular vision loss, was rapidly diagnosed with CRAO and subsequently received intravenous tenecteplase and showed near-complete visual recovery within 1 week. This case demonstrates the importance of early interdisciplinary collaboration between ophthalmology and stroke teams and the need for establishment of standardised clinical pathways for the management of CRAO.
Early neonatal hyperkalaemia is uncommon but may cause life-threatening arrhythmias if untreated. While most cases occur in extremely low-birth-weight infants after 24 hours of life, hyperkalaemia within the first few hours after birth is unusual.Magnesium sulfate, commonly used for pre-eclampsia, crosses the placenta and can cause neonatal hypermagnesaemia, which may disrupt potassium balance by inhibiting sodium-potassium adenosine triphosphatase activity and renal outer medullary potassium channel-mediated distal tubular potassium secretion.A preterm infant born at 33+4 weeks' gestation developed severe hyperkalaemia, with serum potassium 7.65 mmol/L and hypermagnesaemia within 2 hours of life. Electrocardiography, urine output, acid-base status and renal ultrasonography were normal. Postpartum maternal evaluation showed hypermagnesaemia and hyperkalaemia, suggesting a possible maternal contribution. Following rapid recognition and treatment with salbutamol and insulin-dextrose, serum potassium normalised and no arrhythmias occurred.This case shows that early-onset neonatal hyperkalaemia can occur in moderately preterm infants after maternal magnesium sulfate exposure, highlighting the importance of early detection and management.
Uvular necrosis is an uncommon complication following oesophagogastroduodenoscopy (OGD). We report a case involving a male in his 20s who developed uvular necrosis following a routine OGD performed under conscious sedation. The patient presented three days postprocedure with a worsening sore throat and odynophagia. Examination revealed an erythematous uvula with a necrotic tip. He was managed conservatively with simple analgesia, topical lidocaine and oral antibiotics with eventual full resolution of symptoms with no lasting sequelae. This case highlights a rare yet significant complication of OGD, emphasising the importance of clinician awareness, conservative management and patient reassurance.
Following the reclassification of COVID-19 as a category V infectious disease in Japan in May 2023, systematic public health monitoring of case numbers and cluster outbreaks was discontinued. Consequently, infection control measures, responses to cluster outbreaks and vaccination coverage in long-term care facilities were largely left to the discretion of individual facilities, and the understanding of the current situation in these settings remains insufficient. This observational study aims to retrospectively investigate COVID-19 cluster outbreaks and the resulting burdens experienced by facilities after reclassification, focusing on special nursing homes (Tokubetsu Yogo Rojin Home) for older adults, a population at particularly high risk for COVID-19-associated hospitalisation and mortality. By comprehensively evaluating facility and resident characteristics, vaccination coverage and infection prevention and control measures, this study seeks to generate evidence to inform future infection control strategies in long-term care facilities. This retrospective observational study targets special nursing homes in Okinawa Prefecture and residents living in these facilities. Data for a target sample of nine nursing homes with approximately 900 residents will be collected from existing facility and medical records using the Research Electronic Data Capture system. The study was initiated in June 2025 and completion is anticipated by March 2027. The primary outcomes are the occurrence of COVID-19 cluster outbreaks in nursing homes between May 2023 and August 2025 and the facility-level burden experienced during outbreaks, including operational and economic impacts. A cluster outbreak is defined as the occurrence of ≥2 cases of the same infectious disease within a 10-day period. Key variables of interest include baseline characteristics of facilities and residents, vaccination coverage among staff and residents and infection prevention and control measures. Additionally, the study explores potential factors associated with residents' clinical outcomes and facility burden using logistic and linear regression models, respectively, with facility-level random intercepts if deemed appropriate. Prespecified supplementary analyses include one-way analysis of variance and χ2 tests. The study protocol was approved by the Institutional Review Board of the University of the Ryukyus in June 2025 (approval number: 25-2486-00-00-00). The findings will be disseminated at academic conferences and in peer-reviewed medical journals.