Case Series Research Articles

Risk benefit analysis to evaluate risk of thromboembolic events after mRNA COVID-19 vaccination and COVID-19

We compared the risks and benefits of COVID-19 vaccines using a causal pathway analysis to weigh up possible risk factors of thromboembolic events post-vaccination. The self-controlled case series (SCCS) method examined the association between thromboembolic events and vaccination while a case-control study assessed the association between thromboembolic events and COVID-19, addressing under-reported infection data issues. The net vaccine effect was estimated using results from SCCS and case-control studies. We used electronic health record data from Corewell Health (16,640 subjects in SCCS and 106,143 in case-control). We found increased risks of thromboembolic events post-vaccination (incidence rate ratio: 1.19, 95% CI: [1.08, 1.31] after the first dose; 1.22, 95% CI: [1.11, 1.34] after the second dose). Vaccination attenuated infection-associated thromboembolic risks (odds ratio: 4.65, 95% CI: [4.18, 5.17] in unvaccinated vs 2.77, 95% CI: [2.40, 3.24] in vaccinated). After accounting for vaccine efficacy and protection against infection-associated thromboembolic events, vaccination decreases thromboembolic event risk, especially during high infection rate periods.

Clinical Characteristics and Outcomes of Intrauterine Blood Transfusion (IUT) for Infectious Etiologies.

Congenital viral infection may result in fetal anemia and thrombocytopenia. While intrauterine blood transfusions (IUTs) are more commonly performed for Rh alloimmunization, reports using IUT for infection have varying success. Our primary objective was to characterize the outcomes of patients undergoing IUT for infectious etiologies at our center compared with Rh disease. This was a case series of patients undergoing IUT from 2012-2023. Infectious etiologies were identified by maternal serologies and confirmed by amniotic fluid polymerase chain reactions (PCR). Clinical outcomes were obtained from electronic medical records. During the study period, 70 patients underwent IUT, 34% (24/70) for Rh alloimmunization and 17% (12/70) for infection. Those with infectious etiologies were more likely to be diagnosed at earlier gestational ages (22 vs. 25weeks, p=0.04), with hydrops (75 vs. 33%, p=0.03), and thrombocytopenia (27±33×103 vs. 163±112×103, p<0.01). Perinatal death was significantly greater in cases of CMV (4/5, 80%) compared to parvovirus (1/7, 14%) or Rh alloimmunization (5/24, 21%) (p=0.02). Anemias and thrombocytopenias related to fetal infection may be indications for IUT. Compared with Rh alloimmunization, IUT in fetal infections was performed significantly earlier, and hydrops were more common at the time of IUT. In the case of CMV, greater rates of IUFD (80%) were observed. Patients should be counseled on the various outcomes by indication.

Expanding the mutational and phenotypical spectrum of FHONDA syndrome.

Foveal hypoplasia, optic nerve decussation, and anterior segment dysgenesis (FHONDA) is a rare recessively inherited syndrome first described in 2013. FHONDA is associated with biallelic disease-causing variants in the SLC38A8 gene, which has a strong expression in the photoreceptor layer. To date, 60 different disease-causing variants in the SLC38A8 gene have been described. In this cross-sectional case series, we included three unrelated female patients with FHONDA syndrome who presented with congenital nystagmus and decreased visual acuity from infancy. Best-corrected visual acuity was 20/100 OD and 20/60 OS for Patient 1 (P1) (72 years old); light perception OD and hand motion OS for Patient 2 (P2) (66 years old); and 20/100 OD and 20/100 OS for Patient 3 (P3) (25 years old). While normal retinal pigmentation was seen on P1 and P3, P2 presented retinal features of retinitis pigmentosa, including a pale optic nerve head, vessel thinning, and 360° dense bone spicule hyperpigmentation OU. Spectral-domain optical coherence tomography revealed grade 4 foveal hypoplasia in all patients. In P1 and P2, the novel class IV c.388 + 1G > T p.? variant in SLC38A8 was present in homozygosity; while P3 harboured the novel c.214G > C p.(Gly72Arg) variant in homozygosity, classified as class III. Thus, we expand the mutational spectrum of FHONDA by reporting two novel variants. In addition, we describe features of retinitis pigmentosa for the first time in a patient with biallelic homozygous SLC38A8 variants, thus broadening our understanding of the clinical phenotype associated with this rare syndrome.

Single-branched stent-graft with on-table fenestration for the management of zone 2 landing TEVAR with an isolated left vertebral artery: a pilot study

BackgroundIt is challenging to simultaneously conduct total endovascular repair and reconstruct the left subclavian artery (LSA) and isolated left vertebral artery (ILVA) in patients who had an ILVA and required zone 2 anchoring. This pilot study reported the initial application experience of thoracic endovascular aortic repair (TEVAR) with a proximal zone 2 landing for aortic arch reconstruction in patients with ILVA.MethodsThis study was a retrospective consecutive single-center case series analysis, which involved four patients with ILVA who required zone 2 anchoring and received TEVAR combined with a single-branched stent graft and concomitant on-table fenestration between March 2021 and December 2022.ResultsThe postoperative follow-up period was 6–27 months, and no postoperative deaths or other primary complications occurred. There were no signs of a stroke or spinal cord ischemia, as well as no chest or back pain. The postoperative computed tomography angiography showed unobstructed ILVA and LSA, no stent stenosis and displacement, and no signs of endoleak.ConclusionThe outcome suggested that this technique might be a feasible, safe, and alternative treatment for such patients. Further studies with larger samples and longer follow-up periods are needed to confirm our findings.

Phenotype and Treatment Options for Mesenteric Lymph Node Cavitating Syndrome in Coeliac Disease: A Case Series and Literature Review

Phenotype and Treatment Options for Mesenteric Lymph Node Cavitating Syndrome in Coeliac Disease: A Case Series and Literature Review

Spectra of well-differentiated neuroendocrine lesions in the extrahepatic biliary system: a case series.

Neuroendocrine tumours (NETs) occurring in the extrahepatic biliary system are exceedingly rare. While NETs typically manifest as mass lesions, the occurrence of microscopic neuroendocrine cell proliferation without a distinct mass remains undocumented at this location. This study aims to characterise the clinicopathological features of a series of well-differentiated neuroendocrine lesions involving the extrahepatic biliary tree, including mass forming NETs and microscopic non-mass-forming neuroendocrine cell proliferation, designated neuroendocrine cell micronests (NCMs). Surgical resections of NETs/NCMs involving the extrahepatic bile ducts and gallbladder were identified from electronic pathology databases among seven institutions spanning from January 2011 to September 2023. Clinical and histological findings were recorded. Ten patients (four female, six male: age range = 34-75 years) were included in the study. Histopathological examination revealed visible mass-forming lesions in four cases (1.6-14.0 cm in size), identified in the gallbladder (n = two) or extrahepatic bile duct (n = two), all diagnosed as well-differentiated NETs. The remaining six cases revealed incidental non-mass-forming NCMs in either the cystic duct (n = two), common bile duct (n = three) or gallbladder (n = one), ranging from < 0.1 to 0.4 cm; four were associated with biliary lithiasis. No evidence of metastasis or recurrence was seen in the follow-up period (range = 0.1-11.2 years). This study highlights the spectrum of extrahepatic biliary well-differentiated neuroendocrine lesions, ranging from incidental microscopic NCMs to grossly apparent mass-forming NETs, potentially requiring different clinical management. Noteworthy is the frequent association of incidental microscopic neuroendocrine cell proliferations with biliary lithiasis, indicating a potential neuroendocrine metaplastic pathogenesis that merits further exploration.

B - 5 The Clinical Utility of Neuropsychological Assessment in Combatting Resource Misappropriation in the Social Media Era: a Case Series

Abstract Objective Following the rise in popularity of social media applications such as TikTok, Instagram, and X, young adults are being exposed to more mental health-related content, particularly related to Autism Spectrum Disorder (ASD). Unfortunately, 30–84% of this content contains inaccurate or misleading information, which may be assimilated into personal accounts of psychological concerns reported to physicians (Borges do Nascimento et al., 2022; Bastiaens et al., 2024). This can contribute to misdiagnosis, resource misallocation, and inappropriate or contraindicated intervention. The present case series emphasizes the utility of neuropsychological assessment in assisting with proper diagnosis and subsequent treatment planning and intervention. Method This case series covers six patients ranging in age from 18 to 50, five of whom are female, who were referred for neuropsychological evaluation pursuant to self-suspected ASD based on symptom descriptions obtained via popular media. The comprehensive neuropsychological battery included both self-report measures of ASD symptomology (Social Responsiveness Scale) and the Autism Diagnostic Observation Schedule (ADOS-2). Results Neuropsychological testing reflects significant discrepancies between subjective and objective measures of ASD symptoms. These objective findings, combined with the patient’s history and objective measures of psychological functioning, support the accurate diagnosis of a variety of mental health disorders while ruling out ASD. Conclusions This case underscores the importance of neuropsychological assessment in providing meaningful and objective diagnostic data to combat a growing public health crisis of young adults overidentifying with ASD symptoms based on information presented online. Neuropsychological intervention is critical in aiding physicians in accurate differential diagnoses, providing psychoeducation and treatment recommendations, and conserving medical resources.

B - 9 Implications of Cognitive Reserve (CR) in Pre-Surgical Epilepsy Patients: a Case Series

Abstract Objective Localization-related epilepsy is a chronic neurological condition for which neurosurgical interventions are effective. The pre-surgical evaluation process requires careful analysis of neuropsychological data to localize and lateralize areas of underlying neuropathology to guide surgical planning and post-operative prognostication. While it is well-described throughout the literature that global impairments may obscure patterns of discernable neurocognitive strengths and weaknesses, specifically in pre-surgical epilepsy evaluations, less is known about the impact of cognitive reserve (CR). CR, often described in the aging literature, refers to high levels of mental reserve acquired from educational, vocational and intellectual capacities, with the potential to guard against neurocognitive decline. Method Four right-handed patients (ages 24–44) with localization-related, medically-refractory epilepsy with left hemisphere onset (2 temporal and 2 extra temporal onset) underwent a comprehensive neuropsychological evaluation as part of a comprehensive pre-surgical workup. Results The CR conglomerate for these four patients (i.e., educational, vocational attainment and scores on premorbid cognitive metrics) fell in the Very High range. Three out of four patients did not evince the clinically-significant pattern of deficit (&amp;gt;1.5 SD lower than premorbid estimate) on verbally-mediated tasks often seen in right-handed individuals with left-sided seizure onset (i.e., diminished naming and verbal learning). Conclusion The reasons underlying the manifestation of definitively localizing or lateralizing neuropsychological profile differs from patient-to-patient (i.e., handedness, duration of epilepsy, structural lesion, language(s) spoken); however, CR should also be considered an important confound when interfacing with data of questionable clinical utility and prognostic value.

Case series: star anise toxicity presenting to the emergency department in Eastern Regional Referral Hospital in Bhutan

BackgroundStar anise fruit has been used in spice in Asian cuisine, ingredient for traditional medicines, component for antiviral drugs and as parts of tea and beverage across the globe. Toxicity from these plants has been reported due to adulteration with similar toxic species and from consumption with high toxic dose. Most physician and public are unaware of these adverse effects.CasesWe present two cases of star anise toxicity. Both of the patients presented with gastrointestinal and neurological symptoms after consumption of the said fruit. All of the labs and imaging test was negative for other causes and star anise toxicity diagnosis was made after detailed history, events and related symptoms. They were managed supportively and discharged after 24 h of observation.ConclusionEmergency department doctors should be vigilant about possible star anise toxicity in patient presenting with suggestive symptoms, negative investigation for other possible cause and in area where these plant species is available. A detailed drug and ingestion history is essential.

Strength of Association between Coronavirus Disease 2019 and Neurological Disorders in Children: A Case-Control Study.

Evidence suggests potential neurological complications of Coronavirus Disease 2019 (COVID-19), particularly in adults. While case series have hinted at associations between COVID-19 and neurological disorders (NDs) in children, the extent of this link remains unclear. This study investigates temporal trends in NDs during the pandemic and assesses their potential association with COVID-19 infection in children. We analyzed national Thai hospitalization data (2017-2022) for children under 18 with specific NDs (acute transverse myelitis, central nervous system demyelination, neuromyelitis optica, optic neuritis, polyneuropathy, stroke). An interrupted time series analysis was employed to identify changes in the incidence trends of NDs following the declaration of the COVID-19 pandemic. A matched case-control analysis was conducted using data specific to the Thai COVID-19 outbreak period. This analysis aimed to estimate the association between recent/concurrent COVID-19 infection and NDs in children. A propensity score matching on age group, sex, and month of admission was performed before conducting logistic regression. From 2017-2022, 1,721 children admitted with NDs (2,474 admissions), with a male predominance (55%) and average age of 10.6 years. Significant slope change was observed in optical neuritis trends coinciding with the third COVID-19 wave. The case-control analysis included 468 cases and 2,340 controls. Children with NDs had a significantly higher prevalence of recent/concurrent COVID-19 (matched odds ratio: 1.95, 95% confidence interval: 1.21-3.16). Subgroup analysis revealed an association between stroke and recent/concurrent COVID-19 (matched odds ratio: 3.05, 95% confidence interval: 1.3-7.16). Thus, this study suggests an association between recent/concurrent COVID-19 and NDs, especially pediatric stroke.

Invasive Neisseria meningitidis subtype C in gay, bisexual and other men who have sex with men: a systematic review

IntroductionOutbreaks of invasive Neisseria meningitidis subtype C in networks of gay, bisexual and other men who have sex with men (MSM) have been reported. We aimed to explore any factors...

68Ga]Ga-RAYZ-8009: A Glypican-3-Targeted Diagnostic Radiopharmaceutical for Hepatocellular Carcinoma Molecular Imaging-A First-in-Human Case Series.

To date, the imaging and diagnosis of hepatocellular carcinoma (HCC) rely on CT/MRI, which have well-known limitations. Glypican-3 (GPC3) is a cell surface receptor highly expressed by HCC but not by normal or cirrhotic liver tissue. Here we report initial clinical results of GPC3-targeted PET imaging with [68Ga]Ga-DOTA-RYZ-GPC3 (RAYZ-8009), a peptide-based GPC3 ligand in patients with known or suspected HCC. Methods: [68Ga]Ga-RAYZ-8009 was obtained after labeling the peptide precursor with 68Ga from a 68Ge/68Ga generator and heating at 90°C for 10 min followed by sterile filtration. After administration of [68Ga]Ga-RAYZ-8009, a dynamic or static PET/CT scan was acquired between 45 min and 4 h after administration. Radiotracer uptake was measured by SUVs for the following tissues: suspected or actual HCC or hepatoblastoma lesions, non-tumor-bearing liver, renal cortex, blood pool in the left ventricle, and gastric fundus. Additionally, tumor-to-healthy-liver ratios (TLRs) were calculated. Results: Twenty-four patients (5 patients in the dynamic protocol; 19 patients in the static protocol) were scanned. No adverse events occurred. Two patients had no lesion detected and did not have HCC during follow-up. In total, 50 lesions were detected and analyzed. The mean SUVmax of these lesions was 19.6 (range, 2.7-95.3), and the mean SUVmean was 10.1 (range, 1.0-49.2) at approximately 60 min after administration. Uptake in non-tumor-bearing liver and blood pool rapidly decreased over time and became negligible 45 min after administration (mean SUVmean, <1.6), with a continuous decline to 4 h after administration (mean SUVmean, 1.0). The opposite was observed for HCC lesions, for which SUVs and TLRs continuously increased for up to 4 h after administration. In individual lesion analysis, TLR was the highest between 60 and 120 min after administration. Uptake in the gastric fundus gradually increased for up to 45 min (to an SUVmax of 31.3) and decreased gradually afterward. Conclusion: [68Ga]Ga-RAYZ-8009 is safe and allows for high-contrast imaging of GPC3-positive HCC, with rapid clearance from most normal organs. Thereby, [68Ga]Ga-RAYZ-8009 is promising for HCC diagnosis and staging. Further research is warranted.

Assessment of Volumetric Changes Using Megavoltage-Cone Beam Computed Tomography (MV-CBCT) for Adaptive Radiotherapy in Head and Neck Cancer: A Case Series

Assessment of Volumetric Changes Using Megavoltage-Cone Beam Computed Tomography (MV-CBCT) for Adaptive Radiotherapy in Head and Neck Cancer: A Case Series

B - 124 Neuropsychological Evaluation of Chinese Speaking Patients with Parkinson’s Disease for Deep Brain Stimulation Surgery

Abstract Objective Neuropsychological evaluation is a critical part of standardized workup of candidates with Parkinson’s disease (PD) for deep brain stimulation (DBS), identifying patients with cognitive dysfunction (Okun et al., 2006). Existing literature has primarily involved native English speakers with dementia and mild cognitive impairment (MCI), informing treatment planning (Troster et al., 2018). This case series aims to address the gap for Chinese-speaking patients, by describing Chinese neuropsychological measures and norms sensitive to MCI. Method Six cases of first-generation Chinese immigrants diagnosed with PD considering DBS were included in this study. They identified Chinese as their primary language and English as their second language. Duration of residency in the U.S. ranged from 11 to 44 years. The battery included Chinese version of the MOCA; Chinese WAIS-IV; Boston Naming Test (Cheung et al. 2004); semantic verbal fluency, Auditory Verbal Learning Test, Symbol Digit Modalities Test, and Color Trail Test (Lee and Wang, 2010); and Brief Visuospatial Memory Test, Revised Edition (BVMT-R) or RBANS: Figure Recall. Results Consistent with studies for native English speakers (Foley et al., 2018), cognitive declines were found in attention, memory, and executive function domains. Two of the six cases were diagnosed with MCI, which warrants caution before DBS. Conclusions This case series explores measures for Chinese speakers with PD undergoing evaluation for DBS surgery, highlighting cultural considerations, including Chinese measures and norms. This battery can help to differentiate cognitive impairments before proceeding with DBS. Given the diversity within this population and the scarcity of Chinese tools, more research is urgently needed.

A Multimodality Diagnostic Imaging Approach for an Appendiceal Mucocele: A Case Series

A Multimodality Diagnostic Imaging Approach for an Appendiceal Mucocele: A Case Series

T-Cells Rich Classical Hodgkin Lymphoma, a Pathology Diagnostic Pitfall for Nodular Lymphocyte-Predominant Hodgkin Lymphoma; Case Series and Review

T-Cells Rich Classical Hodgkin Lymphoma, a Pathology Diagnostic Pitfall for Nodular Lymphocyte-Predominant Hodgkin Lymphoma; Case Series and Review

Coexistence of Tuberculosis and Malignancy in a Single Cervical Lymph Node: A Case Series.

Background: The coexistence of tuberculosis (TB) and malignancy within the same lymph node is a rare, if not exceptional, pathology, with only a few cases reported. Methods: We collected patients who presented concomitant TB and malignancy within the same cervical lymph node diagnosed during the period (2010-2023). Results: Ten patients were included. They received or were receiving treatment for cancer or TB in 7 cases. All patients presented with recurrent or new lymph nodes despite being under treatment. The 3 remaining patients did not have a history of cancer or TB. Histopathological examination confirmed the coexistence of TB and malignancy within the same lymph node. Histological types of diagnosed cancers included laryngeal squamous cell carcinoma, papillary thyroid carcinoma, nasopharyngeal carcinoma, medullary carcinoma of the thyroid gland, Hodgkin lymphoma, and non-Hodgkin lymphoma. All patients received treatment for TB and cancer. Two patients died from septic complication in 1 case and from pulmonary complication due to miliary TB in 1 case. Conclusions: Concomitant TB and malignancy are possible, especially in countries with a high incidence of TB. Immunocompromised states related to cancer, and its treatments can add the risk of flare-up of a latent infection.

Managing Major Peripheral Nerves in Forearm-Level Amputations With TMR and RPNI: What's the Best Recipe?

Targeted muscle reinnervation (TMR) and regenerative peripheral nerve interface (RPNI) prevent symptomatic neuroma formation in amputees. Forearm-level amputations present multiple muscular targets, making it challenging to determine the ideal treatment. The purpose of this study was to evaluate the best TMR targets, role of RPNI, and appropriate patient-selection criteria in forearm-level amputations. We hypothesized that deep and distal TMR targets would best prevent symptomatic neuromas, RPNI would prove a success adjunct, and patients with poorly controlled diabetes would not develop symptomatic neuromas regardless of nerve management. We retrospectively identified forearm-level amputations performed between 2017 and 2022. Patients with TMR by outside providers, follow-up <6 months, or insufficient documentation were excluded. Demographics, surgical nerve management, and postoperative complications were collected. The primary outcome was development of a painful neuroma determined by the Eberlin criteria. Patients undergoing TMR were divided a priori into two groups, superficial and proximal versus deep and distal TMR targets, and were compared. Thirty-nine patients met inclusion criteria, and 16 developed a symptomatic neuroma. No patients with a deep or distal TMR target developed a symptomatic neuroma. One nerve out of 12 treated with RPNI developed a symptomatic neuroma. No patient with poorly controlled diabetes developed a symptomatic neuroma, despite no advanced nerve management. In a case series of forearm amputations, deep and distal TMR targets prevented symptomatic neuroma formation more than superficial and proximal targets. Regenerative peripheral nerve interface is a useful adjunct for neuroma control, especially for the radial sensory nerve. Patients with poorly controlled diabetes may not require advanced nerve management. Level IV retrospective case series.

Potential application of [18F]AlF-PSMA-11 PET/CT in radioiodine refractory thyroid carcinoma

BackgroundPatients diagnosed with radioiodine refractory (RAI-R) thyroid carcinoma (TC) have a significantly worse prognosis than patients with radiosensitive TC. These refractory malignancies are often dedifferentiated, hindering the effectiveness of iodine-based imaging. Additionally, the role of metabolic imaging using [18F]FDG PET/CT is also limited in these cases, making adequate staging of RAI-R TC challenging. Recent case series have shown promising results regarding the role of the prostate-specific membrane antigen (PSMA) in TC. In this study we explored the value of [18F]AlF-PSMA-11 PET/CT in RAI-R TC.MethodsIn this phase II study, lesions detected on [18F]AlF-PSMA-11 PET were compared to findings from [18F]FDG PET/CT. Additionally, the serologic soluble prostate-specific membrane antigen (sPSMA) was measured using ELISA. PSMA-expression on tumor tissue in any available resection specimens was analysed with an immunostainer.ResultsEight patients were included, with a total of 39 identified lesions based on PET imaging. [18F]AlF-PSMA-11 PET identified 30 of 39 lesions, and [18F]FDG PET identified 33 lesions, leading to a detection rate of 76.9% and 84.6%, respectively. Interestingly, while nine lesions were solely visualized on [18F]FDG, six were uniquely seen on [18F]AlF-PSMA-11 PET. While sPSMA was immeasurable in all female patients, no correlation was found between sPSMA in male patients and disease-related factors. In five out of eight patients immunohistology showed PSMA expression on the primary tumor.ConclusionsAlthough not all lesions could be visualized, [18F]PSMA-11 PET identified multiple lesions imperceptible on [18F]FDG PET. These results display the potential additional diagnostic role of PSMA-targeted imaging in patients with RAI-R TC.Trial registration number No. EudraCT 2021-000456-19.

Thrombosis of the superior ophthalmic vein-A case series and review of the literature

Thrombosis of the superior ophthalmic vein (SOV) is rare. It can present with heterogeneous symptoms and requires acareful diagnostic work-up. This article reports on acase series of three female patients with thrombosis of the SOV and performed an extensive review of the existing literature in PubMed. All three patients showed different leading symptoms but all had atriad of restricted eye motility, exophthalmos and adifference in intraocular pressure with the higher pressure on the side of the protruded eyeball. The pathophysiological background differed in all cases: in the two first cases apre-existing anticoagulation treatment had been paused shortly before the event. Cofactors were an intraorbital venous outflow obstruction due to an unclear mass in the orbital apex in one case and hypercoagulability due to amalignant disease in the other case. In the third case, there was acavernous sinus fistula. The diagnosis should be considered not only in patients with dilated vessels of the anterior segment but also in unclear cases of exophthalmos or unilateral elevated intraocular pressure (IOP).