Clinical Suspicion Research Articles

Molecular analyses of MEFV gene mutation variants in Turkish population.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent, caused by mutations in the MEFV gene. The aim of this study was to review the common genotype distributions of MEFV variants and mutations in the Turkish population and evaluate rare mutations. The study included 2984 patients who applied to Ankara University Ibni Sina Hospital Immunology Laboratory with clinical suspicion of FMF between 2004 and 2014. The data of patients from different regions of the country who were followed up in the immunology-rheumatology clinic with clinical suspicion and presumptive diagnosis of FMF were evaluated retrospectively. Patients were tested for all mutations in Exon 2 and Exon 10, including M694V, M680I, M694I, V726A, E148Q and R202Q. There were 2504 patients with FMF variant. According to genotyping, R202Q (n = 1567, 39.2%) was the most common mutation. The most common co-variant was the R202Q/M694V genotype (n = 507, 16.98%). Allele frequencies for MEFV mutations were as follows: R202Q (n = 1567, 39.2%), M694V (n = 1004, 25.1%), E148Q (n = 463, 11.5%), M680I (n = 354, 8.8%), V726A (n = 319, 7.9%), A744S (n = 51, 1.2%), R761H (N = 41, 1.0%), P706P (N = 25, 0.6%), E167D (N = 23, 0.5%), M694I (N = 23, 0.5%), and K695R (N = 20, 0.5%). This research revealed the prevalence of both common and rare MEFV gene mutations in Turkish FMF patients in various age groups. R202Q was the most prevalent mutation.

Sporothrix brasiliensis-specific PCR for the diagnosis of cat and human sporotrichosis through non-invasive samples.

Zoonotic sporotrichosis caused by Sporothrix brasiliensis is an emerging mycosis in Latin America. One of the problems to quickly treat infected animals and break the transmission chain is associated with the time-consuming gold-standard diagnosis method (culture). We aimed to evaluate a species-specific polymerase chain reaction (PCR) for the diagnosis of sporotrichosis caused by S. brasiliensis using non-invasive samples. We performed a retrospective cross-sectional study using samples collected with swabs from humans and cats with clinical suspicion of sporotrichosis. DNA was extracted using a commercial kit, and a species-specific PCR for S. brasiliensis detection was performed. One-hundred ten samples were included. PCR showed a good concordance with culture (86% of agreement) for human and cat samples (Kappa coefficient=0.722, and 0.727, respectively). In conclusion, our data shows that this adapted PCR using non-invasive samples can be applied to sporotrichosis diagnosis, being a good alternative mainly in regions with a lack of mycologists to identify the fungus in culture, contributing to the control of this emergent zoonosis.

F-18 FDG PET/CT scan in recurrent prosthetic valve endocarditis without detectable abnormality on echo: a case report

BackgroundInfective endocarditis poses many clinical and diagnostic challenge. The diagnosis of infective endocarditis is made by high index of clinical suspicion based on the American Heart Association modified Duke’s criteria, and the main imaging modality of choice is echocardiography.Case presentationHere, we reported a case of recurrent infective endocarditis revealed by FDG PET/CT study despite completion of antibiotics and negative on echocardiography. A 38-year-old female with history of double-valve replacement for aortic stenosis presented with 1-week history of chest pain, dyspnea and intermittent fever. She was treated with 5 weeks of antibiotic with IV Cephalexin for prosthetic valve endocarditis. The repeated blood culture after IV antibiotic was negative for infection. She represented again with episodes of palpitation. Post-treatment blood investigation showed normal leukocyte level with increasing CRP and Troponin T level. The repeated blood culture and transesophageal echo was negative. The F-18 FDG PET/CT showed a mild hypermetabolic focus at the inferior basal myocardial wall adjacent to the prosthetic valve, however not involving the paraaortic region which is likely secondary to ongoing inflamed myocardium. As the fear of another relapse of endocarditis, oral suppression antibiotic therapy was continued for another 6 months.ConclusionsThis case report illustrates a patient with a prosthetic valve replacement detected by F-18 FDG PET/CT, which one could have overlooked an endocarditis if one had relied on transesophageal echo (TEE) alone. F-18 FDG PET/CT is a promising adjunctive tool in the diagnostic workup of patients with suspected IE, particularly prosthetic device endocarditis where the TEE sensitivity is lower. In our patient, the positive F-18 FDG PET/CT governs the subsequent therapeutic consequences which include adjustment of antibiotic and length of treatment, and it prevents unnecessary intervention.

Pulmonary vein thrombosis in COVID-19 patient with chronic obstructive pulmonary disease: a case report

BackgroundPulmonary vein thrombosis is a rare condition with a non-specific presentation with multiple underlying etiologies such as malignancy or lung surgery. In rare instances, no etiology could be encountered. Instead, it has a broad spectrum of clinical manifestations, from dyspnea to lung infarction with a compromise to hemodynamics.Case presentationA 71 years old male with a history of shortness of breath. The patient tested positive for COVID-19; the prolonged exertional fatigue led to undergoing CTPA (CT pulmonary angiography), which revealed pulmonary vein thrombosis. This case emphasizes the importance of maintaining a high index of clinical suspicion in the absence of other possible diagnoses. Furthermore, diagnostic work-up and treatment strategies depend highly on the patient’s presentation and risk factors.ConclusionsPulmonary vein thrombosis is an infrequent entity reported in the medical literature and underdiagnosed because of its ambiguous presentation. Early diagnosis is paramount to prevent complications.

Clinical analysis of Bornavirus Encephalitis cases demonstrates a small time window for Etiological Diagnostics and treatment attempts, a large case series from Germany 1996-2022.

The emerging zoonotic Borna disease virus 1 (BoDV-1) and the variegated squirrel bornavirus 1 (VSBV-1) cause severe and fatal human encephalitis in Germany. We conducted the first systematic clinical analysis of acute, molecularly confirmed fatal bornavirus encephalitis cases comprising 21 BoDV-1 and four VSBV-1 patients to identify options for better diagnosis and timely treatment. Analyses were based on medical records and, for BoDV-1, on additional medical interviews with patients' relatives. Disease onset was unspecific, often with fever and headache, inconsistently mixed with early fluctuating neurological symptoms, all rapidly leading to severe encephalopathy and progressive vigilance decline. Very shortly after seeking the first medical advice (median time interval 2 and 0 days for BoDV-1 and VSBV-1, respectively), all except one patient were hospitalised upon manifest neurological symptoms (median 10 and 16 days respectively after general symptom onset). Neurological symptoms varied, always progressing to coma and death. BoDV-1 and VSBV-1 patients required ventilation a median of three and five days, and died a median of 32 and 72 days, after hospitalisation. Death occurred mostly after supportive treatment cessation at different points in time based on poor prognosis. Disease duration therefore showed a wide, incomparable range. The extremely rapid progression is the most obvious clinical characteristic of bornavirus encephalitis and the timeframe for diagnosis and targeted therapy is very short. Therefore, our results demand an early clinical suspicion based on symptomatology, epidemiology, imaging, and laboratory findings, followed by prompt virological testing as a prerequisite for any potentially effective treatment.

Treatment of infections caused by carbapenem-resistant Acinetobacter baumannii

Patients with severe carbapenem-resistant Acinetobacter baumannii (CRAB) infections currently face significant treatment challenges. When patients display signs of infection and the clinical suspicion of CRAB infections is high, appropriate treatment should be immediately provided. However, current treatment plans and clinical data for CRAB are limited. Inherent and acquired resistance mechanisms, as well as host factors, significantly restrict options for empirical medication. Moreover, inappropriate drug coverage can have detrimental effects on patients. Most existing studies have limitations, such as a restricted sample size, and are predominantly observational or non-randomized, which report significant variability in patient infection severity and comorbidities. Therefore, a gold-standard therapy remains lacking. Current and future treatment options of infections due to CRAB were described in this review. The dose and considerable side effects restrict treatment options for polymyxins, and high doses of ampicillin-sulbactam or tigecycline appear to be the best option at the time of initial treatment. Moreover, new drugs such as durlobactam and cefiderocol have substantial therapeutic capabilities and may be effective salvage treatments. Bacteriophages and antimicrobial peptides may serve as alternative treatment options in the near future. The advantages of a combination antimicrobial regimen appear to predominate those of a single regimen. Despite its significant nephrotoxicity, colistin is considered a primary treatment and is often used in combination with antimicrobials, such as tigecycline, ampicillin-sulbactam, meropenem, or fosfomycin. The Infectious Diseases Society of America (IDSA) has deemed high-dose ampicillin-sulbactam, which is typically combined with high-dose tigecycline, polymyxin, and other antibacterial agents, the best option for treating serious CRAB infections. A rational combination of drug use and the exploration of new therapeutic drugs can alleviate or prevent the effects of CRAB infections, shorten hospital stays, and reduce patient mortality.

Does the ESC chronic coronary syndrome pre-test probability score assist coronary artery disease diagnosis in an advanced nurse practitioner led integrated community chest pain clinic?

Abstract Background The Advanced Nurse Practitioner (ANP) led integrated community chest pain clinic provides an alternative avenue to which GPs can refer patients with non-acute chest pain providing emergency dept. avoidance. The role of the ANP is to differentiate between a non-anginal versus anginal cause. In addition to taking a clinical history, physical assessment and ECG the ANP utilises the 2019 ESC guidelines for chronic coronary syndromes pre-test-probability (PTP) score, to judge if invasive investigation is required. Purpose ANP assessment of chest pain in a community clinic is unique in the Irish healthcare setting. The aim was to assess if angina characteristics & allocated ESC PTP were predictive of coronary artery disease (CAD) diagnosis in a community chest pain cohort. Method A retrospective audit of 144 patients assessed by the ANP in the ICCPC and subsequently referred for coronary angiography was performed. Final diagnosis of was analysed by i. anginal characteristic, ii. ESC PTP, iii. age and sex. Approval was given by the department of quality, safety and risk management. Results The average combined age was 61 years in n=92 Male, and n=51 Female patients. Coronary Artery Disease was diagnosed in 92% (n= 132) of those referred for angiography; obstructive CAD in 38% (n=55) and non-obstructive CAD (NOCAD) in 54% (n=77). The ANP allocated the angina characteristic ‘typical’ in 31% (n=45) cases and 58% (n=26) were diagnosed with obstructive CAD, average PTP of 20%, and 38% (n=17) were diagnoses with NOCAD. In those with ‘typical’ symptoms only two cases resulted in normal coronary arteries. Conversely 34% (n=49) were allocated ‘non-anginal’ symptoms, in whom 28% (n=14) obstructive CAD was detected; 12 cases had an intermediate to high PTP due to age and clinical likelihood. The majority of referrals (57%) were ‘high’ PTP of CAD (≤16%-52%), average 22%. The average PTP was 27% (High) in those diagnosed with CAD versus a PTP of 11% (Intermediate) in those with normal coronaries (n=12). The new category of ‘dyspnoea’ was allocated to 14% (n=20) and resulted in diagnosis of NOCAD (n=12) and (n=5) CAD. Those with dyspnoea as a presenting symptom of CAD were all male with high PTP. Conclusion Pre-test-probability and age are highly correlated, rising with age and defined by sex. The main variable is the ‘angina’ characteristic allocated by the ANP. In this community-based cohort, ‘typical’ symptom allocation by the ANP resulted in a higher PTP and subsequent CAD diagnosis. Clinical suspicion in the ‘low-intermediate risk’ can be further adjusted using the clinical likelihood ratio. The value of the PTP score in predicting CAD is as useful as the ‘angina’ characteristic and clinical likelihood allocated, requiring expert health history taking. This retrospective analysis of coronary angiogram results in this community cohort evidences that the ANP is skilled in utilising the ESC PTP score to assist in the diagnosis of CAD.

Case Report: Surgical challenges and insights in a child with a blunt left diaphragmatic and pericardial rupture and heart subluxation

IntroductionBlunt diaphragmatic rupture (BTDR) is a rare condition that can occur in children following high-energy blunt thoracoabdominal trauma. In less than 1% of the cases, pericardial rupture can coexist with a BTDR. A coexistence of BTDR and pericardial rupture can result in displacement of the heart and is associated with high mortality. Clinical presentation is non-specific and requires a high index of suspicion for early management.Case presentationA 4-year-old child presented to the emergency unit of our hospital following high-energy trauma with severe respiratory distress. Initially, a left-side chest tube was inserted, but it resulted in no clinical improvement. A chest x-ray showed a collapse of the left lung with a herniation of bowel loops into the left hemithorax. An exploratory laparotomy was done, which revealed a 10 cm × 4 cm defect in the left hemidiaphragm with a medial extension involving the pericardium. The fundus of the stomach and left lobe of the liver were displaced into the pericardial space, pushing the cardiac apex posteriorly to the right side. Concomitantly, the transverse colon and small bowel were displaced into the left pleural space. After the reduction of the herniated abdominal viscera back into the peritoneal cavity, the pericardial sac was repaired by employing an interrupted resorbable suture, while the diaphragmatic defect was repaired by using a horizontal mattress. No other injuries were identified and the abdomen was closed in layers.ConclusionBTDR with pericardial rupture is an elusive condition with a high mortality rate that necessitates a high index of clinical suspicion. Early surgical repair of the defect with a reduction of herniated organs can reduce morbidity and mortality.

Reporting of Incidental Thrombotic Arteriopathy in Lung Resection Specimens: Examination of Clinical Impact.

Pulmonary thrombotic arteriopathy (PTA) can be an incidental finding in lung resections performed for various indications. Historic studies largely examined PTA in autopsies. Thus, the prevalence in surgical samples, particularly in the modern era of lung cancer screening, is poorly defined. Detection of PTA in surgical samples may provide an opportunity for therapeutic intervention, but the impact of this finding on clinical management is unknown. We retrospectively examined consecutive lung surgical resections containing a report of incidental PTA between 2019 and 2022 in our institution. A retrospective chart review was performed to determine the history of systemic thromboembolism and clinical and radiographic follow-up. All slides were reviewed to morphologically characterize the vascular changes. Among 2930 pulmonary resections, 66 (2.3%) reportedly contained PTA. Twenty-four (36.4%) patients had a clinically recognized thromboembolic event either before or after surgical resection. Patients with clinically recognized thromboembolic disease were significantly more likely to have both acute and organized thrombi affecting large arteries. The presence of infarct, chronic hypertensive vasculopathy, or number of vessels with thrombi were not significantly associated with a clinically detected event. Reporting of incidental PTA led to clinical intervention in six patients and confirmed systemic thromboembolic disease in 2. Moreover, 2 patients with no further workup based on the incidental pathology findings subsequently developed pulmonary embolism. PTA is incidentally detected in 2.3% of surgical lung resections, and in two-thirds of cases, there is no clinical suspicion of thromboembolic disease. Pathologic reporting of PTA rarely led to clinical intervention, suggesting a need for improved communication of incidental pathology findings.

Association of Metal Cations with the Anti-PF4/Heparin Antibody Response in Heparin-Induced Thrombocytopenia.

Heparin-induced thrombocytopenia (HIT) is an antibody-mediated immune response against complexes of heparin and platelet factor 4 (PF4). The electrostatic interaction between heparin and PF4 is critical for the anti-PF4/heparin antibody response seen in HIT. The binding of metal cations to heparin induces conformational changes and charge neutralization of the heparin molecule, and cation-heparin binding can modulate the specificity and affinity for heparin-binding partners. However, the effects of metal cation binding to heparin in the context of anti-PF4/heparin antibody response have not been determined. Here, we utilized inductively coupled plasma mass spectrometry (ICP-MS) to quantify 16 metal cations in patient plasma and tested for correlation with anti-PF4/heparin IgG levels and platelet count after clinical suspicion of HIT in a cohort of heparin-treated patients. The average age of the cohort (n = 32) was 60.53 (SD = 14.31) years old, had a mean anti-PF4/heparin antibody optical density [OD405] of 0.93 (SD = 1.21) units, and was primarily female (n = 23). Patients with positive anti-PF4/heparin antibody test results (OD405 ≥ 0.5 units) were younger, had increased weight and BMI, and were more likely to have a positive serotonin release assay (SRA) result compared to antibody-negative patients. We observed statistical differences between antibody-positive and -negative groups for sodium and aluminum and significant correlations of anti-PF4/heparin antibody levels with sodium and silver. While differences in sodium concentrations were associated with antibody-positive status and correlated with antibody levels, no replication was performed. Additional studies are warranted to confirm our observed association, including in vitro binding studies and larger observational cohorts.

18F]-florbetaben PET/CT is sensitive for cardiac AL amyloidosis.

Often differential diagnosis between AL and ATTR amyloidosis is difficult. Concerning ATTR, sensitive diagnostic tool, as diphosphonate scintigraphy, was validated, instead of no imaging approach is as accurate in AL. Cardiac ultrasound and circulating biomarkers may raise the clinical suspicion but biopsy remains the only option for diagnosis. We aimed to explore the sensitivity of 18F-Florbetaben PET respect to blood tests or periumbilical fat (POF), cardiac, bone marrow (BM) or other tissues biopsies in a cohort of 33 patients.

Wernicke Encephalopathy: Typical and Atypical Findings in Alcoholics and Non-Alcoholics and Correlation with Clinical Symptoms.

Clinical diagnosis of Wernicke encephalopathy (WE) can be challenging due to incomplete presentation of the classical triad. The aim was to provide an update on the relevance of standard MRI and to put typical and atypical imaging findings into context with clinical features. In this two-center retrospective observational study, the local radiology information system was searched for consecutive patients with clinical or imaging suspicion of WE. Two independent raters evaluated T2-weighted imaging (WI), fluid-attenuation inversion recovery (FLAIR), diffusion WI (DWI), T2*WI and/or susceptibility WI (SWI), and contrast-enhanced (CE)-T1WI, and noted the involvement of typical (i.e., mammillary bodies (MB), periaqueductal grey (PAG), thalamus, hypothalamus, tectal plate) and atypical (all others) lesion sites. Unusual signal patterns like hemorrhages were also documented. Reported clinical features together with the diagnostic criteria of the latest guidelines of the European Federation of Neurological Societies (EFNS) were used to test for relationships with MRI biomarkers. 47patients with clinically confirmed WE were included (Jan '99-Apr '23; mean age, 53yrs; 70% males). Interrater reliability for imaging findings was substantial (κ = 0.71), with lowest agreements for T2WI (κ = 0.85) compared to all other sequences and for PAG (κ = 0.65) compared to all other typical regions. In consensus, 77% (n = 36/47) of WE cases were rated MRI positive, with FLAIR (n = 36/47, 77%) showing the strongest relation (χ2 = 47.0; P < 0.001) compared to all other sequences. Microbleeds in the MB were detected in four out of ten patients who received SWI, not visible on corresponding T2*WI. Atypical findings were observed in 23% (n = 11/47) of cases, always alongside typical findings, in both alcoholics (n = 9/44, 21%) and non-alcoholics (n = 2/3, 67%). Isolated involvement of structures, explicitly PAG (n = 4/36; 11%) or MB (n = 1/36; 3%), was present but observed less frequently than combined lesions (n = 31/36; 86%). Acut-off width of 2.5 mm for the PAG on 2D axial FLAIR was established between cases and age- and sex-matched controls. An independent association was demonstrated only between short-term memory loss and changes in the MB (OR = 2.2 [95% CI: 1.1-4.5]; P = 0.024). In retrospect, EFNS criteria were positive (≥ 2out of4) in every case, but its count (range, 2-4) showed no significant (P = 0.427) relationship with signal changes on standard MRI. The proposed sequence protocol (FLAIR, DWI, SWI and T1WI + CE) yielded good detection rates for neuroradiological findings in WE, with SWI showing microbleeds in the MB with superior detectability. However, false negative results in about aquarter of cases underline the importance of neurological alertness for the diagnosis. Awareness of atypical MRI findings should be raised, not only in non-alcoholics. There is limited correlation between clinical signs and standard MRI biomarkers.

Non-occlusive Mesenteric Ischemia – A Rare but Deadly Condition

Non-occlusive mesenteric ischemia is a rare but often fatal condition that occurs due to spasms in the splanchnic arteries leading to hypoperfusion, cellular death, bowel ischemia, and eventually perforation. Having a high clinical suspicion in the correct setting is crucial to identify and treating the medical condition quickly. This is a unique case of an 82-year-old Caucasian male who presented with peritonitis secondary to acute mesenteric ischemia caused by hypotension leading to the eventual finding of bowel ischemia and perforation. J MEDICINE 2024; 25: 176-178

Mucinous cystic neoplasm of the liver: A rare case report

Mucinous cystic neoplasm of the liver is a rare cystic neoplasm accounting for approx. 5% of cystic liver in the liver parenchyma. We describe the histomorphology and immunophenotyping features of MCN-L in a 52-year-old woman who came to the surgical department with complaints of pain abdomen for 1.5 months. The ultrasonography showed a septated cyst located centrally in the liver. The CT abdomen showed a large hypodense multiloculated cystic lesion in the liver with thin enhancing septae and multiple small cysts involving the entire left lobe with extension into the right lobe and having a large infra-hepatic exophytic component. A provisional diagnosis of a Hydatid cyst was made. Drainage of the cyst with laparoscopic deroofing was done. Histopathology examination showed a cyst lined by cuboidal to columnar epithelium with mucinous cytoplasm and basally oriented nuclei. Subepithelium shows ovarian-like stroma. MCN-L has a lower frequency as compared to the counterpart of MCN in the pancreas, and further molecular studies are necessary to clarify the biology of MCN-L. The relevance of this rare entity's clinical and radiological suspicion, histological recognition and immunohistochemistry is emphasised.

Dermatomyositis in a young patient: A rare paraneoplastic syndrome of renal cell carcinoma

IntroductionParaneoplastic syndromes are frequent in patients with renal cell carcinoma. Dermatomyositis is an idiopathic inflammatory myopathy that may be associated with neoplasms. This case aims to describe the rare association of dermatomyositis with renal cell carcinoma and to increase clinical suspicion of this neoplasm when systemic rheumatologic symptoms are present.Case presentationA 35‐year‐old female developed severe rheumatologic symptoms (progressive muscle weakness, heliotrope rash, and Gottron's papules). Clinical and laboratory findings indicated dermatomyositis. During the investigation, computed tomography revealed a left kidney solid mass. She underwent a left radical nephrectomy, and histology confirmed renal cell carcinoma. After 3 months, dermatomyositis manifestations disappeared and the patient withdrawn steroid therapy.ConclusionMost paraneoplastic syndromes associated with renal cell carcinoma are only cured with nephrectomy. We highlight the potential role of surgery in dermatomyositis caused by renal cell carcinoma. The recurrence of symptoms related to the syndrome should alert for disease progression.

An international survey of recalcitrant and recurrent tinea of the glabrous skin-A potential indicator of antifungal resistance.

There has been a global rise in cases of dermatophytosis and, in particular, recalcitrant and recurrent cases on tinea of the glabrous skin. This phenomenon, particularly prevalent in India, has been linked to the concerning rise of antifungal resistance. The challenge is amplified by a dearth of comprehensive, international data to understand the global scope and characteristics of such cases. This study aims to collate international insights, focusing on areas outside Europe (as this was previously published), to map the extent and characteristics of clinical and, where possible, laboratory confirmed tinea of the glabrous skin through an online survey administered to dermatologists globally. An online survey was distributed from February 2022 to July 2023 and captured data on respondents' experience of recalcitrant and recurrent tinea of the glabrous skin over the preceding 3 years. A total of 260 responses were received spreads across 36 countries, excluding Europe. In total, 91.7% reported seeing cases of recalcitrant or recurrent tinea of the glabrous skin over the preceding 3 years. Common anatomical sites affected were the trunk and groin. T. mentagrophytes and T. rubrum were the predominant species implicated, and there were low rates of laboratory confirmed dermatophyte resistance. The high rates of reported recalcitrant and recurrent tinea of the glabrous skin underscore an urgent need for global collaborative efforts and enhanced diagnostic measures. The findings advocate for the establishment of a standardized global disease registry, regulation of over-the-counter antifungal and steroid combinations, correlation of clinical suspicion with laboratory confirmed drug resistance and exploration of alternative therapeutic strategies to mitigate the burgeoning challenge of dermatophyte resistance.

Detection of cell-free tumor DNA in cerebrospinal fluid as a diagnostic biomarker for leptomeningeal melanoma metastasis: A case series.

Leptomeningeal melanoma metastases (LMM) are associated with poor survival. Diagnosis is based on clinical presentation, brain MRI and cerebrospinal fluid (CSF) analysis. Inconclusive findings at initial presentation can delay treatment. In this single-center case series, detection of BRAFV600- and NRASQ61-mutant cell-free tumor DNA (cfDNA) in CSF was evaluated as a complementary diagnostic biomarker. In 12 patients with clinical suspicion of LMM, a retrospective analysis of MRI, CSF cytology and cfDNA analysis on 1 mL of CSF using the Idylla® platform was carried out. Nine patients displayed MRI abnormalities suggesting LMM. CSF analysis identified malignant cells in three patients (including one without MRI abnormalities). BRAFV600- or NRASQ61-mutant cfDNA was detected in CSF of nine patients (eight with and one without MRI abnormalities; all patients with positive CSF cytology). Subsequent follow-up confirmed LMM in all patients with positive and in one patient with a negative CSF cfDNA analysis (sensitivity 81.8%; specificity 100%). Our findings suggest that analyzing BRAFV600- and NRASQ61-mutant cfDNA in CSF using the Idylla® platform holds promise as a sensitive and specific complementary diagnostic biomarker for LMM, particularly in case of inconsistency between imaging and CSF cytology. The 110-min analysis can facilitate urgent treatment decisions.

A cross-sectional survey assessing clinicians' perspectives towards redesigning the surveillance model for head and neck cancer: can we do better?

Service delivery of post-treatment surveillance in head and neck cancer (HNC) varies across institutions in Australia. To better understand current practices and develop protocols that maximize service capacity or incorporate emerging technologies, especially in under-resourced regional and remote communities, it is important to obtain the perspectives of clinicians that regularly manage patients with HNC. This cross-sectional study utilized an online survey distributed via email to specialists recruited from HNC-associated networks across Australia. The survey captured information on current practices and explored clinician perspectives towards re-designing the current surveillance model to incorporate telehealth or patient-reported outcome measures (PROMs). Quantitative data was analyzed using descriptive statistics while open-ended survey comments were analyzed using a content analysis approach. Forty participants completed the survey (25 surgeons, 9 medical oncologists, 5 radiation oncologists and 1 oral medicine specialist). Most clinicians used either institution-specific guidelines (44%) or National Comprehensive Cancer Network guidelines (39%), with the remaining 17% using surveillance intervals based on patient symptoms. Following treatment, 53% of participants imaged patients only when there was clinical suspicion of recurrence or new symptoms. Planned surveillance imaging was conducted at 6 or 12-monthly intervals based on the HNC subtype. Fifty-seven percent of clinicians were open to redesigning the surveillance model, specifically in low-risk patients who did not require nasoendoscopic examination. Seventy-one percent had concerns regarding the feasibility of telehealth appointments, citing disparities in digital health equity. Additionally, 61% felt PROMs are currently underutilized and were open to incorporating HNC-specific PROMS into surveillance. Open-ended responses indicated that within the current surveillance model, "fragmented service provision" and "administration issues" were significantly impacting on timing of care. Surveyed HNC clinicians feel that current post-treatment surveillance can be fragmented and potentially lead to delayed care. They are open to incorporating PROMS to assist in surveillance scheduling, especially in low-risk patients.

A cross-sectional survey assessing clinicians' perspectives towards redesigning the surveillance model for head and neck cancer: can we do better?

Service delivery of post-treatment surveillance in head and neck cancer (HNC) varies across institutions in Australia. To better understand current practices and develop protocols that maximize service capacity or incorporate emerging technologies, especially in under-resourced regional and remote communities, it is important to obtain the perspectives of clinicians that regularly manage patients with HNC. This cross-sectional study utilized an online survey distributed via email to specialists recruited from HNC-associated networks across Australia. The survey captured information on current practices and explored clinician perspectives towards re-designing the current surveillance model to incorporate telehealth or patient-reported outcome measures (PROMs). Quantitative data was analyzed using descriptive statistics while open-ended survey comments were analyzed using a content analysis approach. Forty participants completed the survey (25 surgeons, 9 medical oncologists, 5 radiation oncologists and 1 oral medicine specialist). Most clinicians used either institution-specific guidelines (44%) or National Comprehensive Cancer Network guidelines (39%), with the remaining 17% using surveillance intervals based on patient symptoms. Following treatment, 53% of participants imaged patients only when there was clinical suspicion of recurrence or new symptoms. Planned surveillance imaging was conducted at 6 or 12-monthly intervals based on the HNC subtype. Fifty-seven percent of clinicians were open to redesigning the surveillance model, specifically in low-risk patients who did not require nasoendoscopic examination. Seventy-one percent had concerns regarding the feasibility of telehealth appointments, citing disparities in digital health equity. Additionally, 61% felt PROMs are currently underutilized and were open to incorporating HNC-specific PROMS into surveillance. Open-ended responses indicated that within the current surveillance model, "fragmented service provision" and "administration issues" were significantly impacting on timing of care. Surveyed HNC clinicians feel that current post-treatment surveillance can be fragmented and potentially lead to delayed care. They are open to incorporating PROMS to assist in surveillance scheduling, especially in low-risk patients.

Wernicke encephalopathy in a pediatric patient with cannabinoid hyperemesis: A novel case report

AbstractThis case report details a novel case of Wernicke encephalopathy (WE) in a 16‐year‐old boy with obesity and chronic cannabis use. Despite the absence of alcohol use disorder, this adolescent developed classic symptoms of WE, challenging the conventional diagnostic framework. Clinical suspicion for WE was supported by typical magnetic resonance imaging findings, low thiamine levels and rapid clinical improvement postintravenous thiamine supplementation. This case underscores the need for heightened clinical vigilance for WE in patients who present with neurologic symptoms who endorse history of persistent emesis, regardless of their history of alcohol use. It also supports the preemptive administration of thiamine in those at risk of deficiency.