INTRODUCTION: Takayasu arteritis is the most common large-vessel vasculitis in childhood, but there is a lack of literature regarding childhood-onset Takayasu arteritis (c-TAK) in Southeast Asia. We aim to describe a c-TAK cohort in Singapore and highlight a unique subset that first presents with Kawasaki-like disease (KD). METHOD: A single-centre cohort study in Singapore of consecutive children diagnosed with c-TAK between 2002 and 2023 was performed. Demographic and clinical features, laboratory and angiographic findings, treatment, and outcomes were summarised. Disease activity was evaluated using the Paediatric Vasculitis Disease Activity Score and inflammatory markers. RESULTS: Twenty-three patients, fulfilling both the EULAR/ PRINTO/PReS and ACR/EULAR 2022 criteria, were recruited. The most common clinical features at diagnosis were fever (15, 65%) and neurological symptoms (11, 48%, half of which presented with stroke), while the most prevalent angiographic pattern by Hata's classification was Type V (21, 91%). Eight children (35%) initially presented with refractory KD, and these patients were significantly younger, more male-predominant, and had higher inflammatory markers at diagnosis; all of them had coronary artery involvement, but none had intracranial vascular findings. Of the entire cohort, 16 (70%) achieved inactive disease on medications with a median duration of 6 months (interquartile range [IQR]: 4-11), and 8 (35%) achieved remission off medications with a median duration of 43 months (IQR 35-60). CONCLUSION Our c-TAK cohort has high proportions of neurological involvement and stroke. This is also the first cohort study to describe a distinct group of patients who first presented with refractory KD.
Humans ; Takayasu Arteritis/complications* ; Singapore/epidemiology* ; Male ; Female ; Child ; Adolescent ; Age of Onset ; Mucocutaneous Lymph Node Syndrome/diagnosis* ; Cohort Studies ; Child, Preschool ; Fever/etiology* ; Stroke/epidemiology* ; Retrospective Studies

BACKGROUND

Spontaneous isolated superior mesenteric artery dissection (SISMAD) is a rare vascular condition where the superior mesenteric artery is affected by dissection without involving other arteries. Its incidence is estimated at 0.06% to 0.08% globally. The possible causes include polyarteritis nodosa (PAN), an autoimmune disease affecting medium-sized arteries. SISMAD can manifest with various clinical presentations, from asymptomatic to acute bowel ischemia, warranting consideration when common causes of acute abdomen are ruled out.

This is the case of a 44-year-old female Filipino, hypertensive, who complained of abdominal pain, initially managed as intestinal amoebiasis. Abdominal examination showed a soft, non-tender abdomen with no guarding, making the symptoms disproportionate to physical examination. Due to persistence of symptoms despite a full antibiotic course, further workup was done. Computed tomography (CT) scan of the whole abdomen with contrast revealed an isolated dissection of the proximal superior mesenteric artery (SMA) with thrombosis which was confirmed on CT angiography. The diagnosis of PAN was established based on the correlation of clinical presentation, laboratory findings and imaging results. Conservative management was done and to address the thrombosis, anticoagulation with heparin was initiated. The patient was also given methylprednisolone pulse therapy and cyclophosphamide with good response. Resolution of symptoms noted and she was eventually discharged improved.

SISMAD and PAN are independently rare conditions. This unique case involved both diseases in a 44-year-old Filipino female, and to date, there have been no reported similar cases worldwide. Early diagnosis of the disease requires a high degree of suspicion and pattern recognition. This is crucial for timely treatment and improved prognosis. Furthermore, close surveillance is important to identify potential relapses even after symptom resolution.

This article reports a male patient，aged 31 years，who were admitted due to sudden-onset speech and language impairment and limb weakness at the right side for more than 7 hours and achieved successful revascularization after endovascular treatment. Etiological screening revealed positive treponema pallidum particle agglutination （1∶1 280） and positive HIV antibodies in serum，as well as an increase in white blood cell count and positive TPPA （1∶640） in cerebrospinal fluid （CSF）. High-resolution magnetic resonance imaging of the vessel wall showed inflammatory changes in the vessel wall of the M1 segment of the left middle cerebral artery. After multidisciplinary consultation，the patient was diagnosed with acute ischemic stroke secondary to cerebral arteritis caused by neurosyphilis and HIV infection and was given antiplatelet therapy，benzathine penicillin for syphilis，and antiviral therapy. After 6 months of follow-up，the patient had a modified Rankin Scale score of 0 and achieved clearance of syphilis-related indicators in serum and CSF，and CT angiography confirmed revascularization without new-onset stenosis. The literature review shows that acute ischemic stroke is a common manifestation of co-infection with HIV and neurosyphilis in young individuals，and early syphilis detection in serum and CSF，HIV screening，and timely combination therapy are of great significance for improving prognosis.
Neurosyphilis ; Arteritis

Spontaneous isolated superior mesenteric artery dissection (SISMAD) is a rare vascular condition where the superior mesenteric artery is affected by dissection without involving other arteries. Its incidence is estimated at 0.06% to 0.08% globally. Possible causes include trauma, congenital connective tissue disorders, arteriosclerosis, and vasculitis such as polyarteritis nodosa (PAN). SISMAD can manifest with various clinical presentations, from asymptomatic to acute bowel ischemia, warranting consideration when common causes of acute abdomen are ruled out.

This is a case of a 44-year-old female Filipino, who complained of abdominal pain, initially managed as intestinal amoebiasis. Abdominal examination showed a soft, non-tender abdomen with no guarding, making the symptoms disproportionate to physical examination. Due to persistence of symptoms despite full antibiotic course, further work up was done. Computed tomography (CT) scan of the whole abdomen with contrast revealed an isolated dissection of the proximal superior mesenteric artery (SMA) with thrombosis which was confirmed on CT angiography. C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), cytoplasmic antineutrophilic cytoplasmic antibodies (ANCA) and perinuclear ANCA were both negative; antinuclear antibody (ANA), C3 and C4 levels were also unremarkable. The diagnosis of PAN was established based on the correlation of clinical presentation, laboratory findings, and imaging results. She was given methylprednisolone pulse therapy and cyclophosphamide with good response. Anticoagulation with heparin was initiated to address the thrombosis. The patient had complete bowel rest, pain management, intravenous hydration, and parenteral nutrition. Resolution of symptoms noted and was eventually discharged improved.

SISMAD and PAN are independently rare conditions. This unique case involved both diseases in a 44-year-old Filipino female. Early diagnosis of the disease requires a high degree of suspicion and pattern recognition. This is crucial for timely treatment and improved prognosis. Furthermore, close surveillance is important to identify potential relapses even after symptom resolution.

Humans ; Takayasu Arteritis/therapy* ; Child ; Consensus

An 11-year-old boy presented with erythematous plaques over the bilateral mandibular and mental regions for 2 years, accompanied by cough and dyspnea for more than 2 months. Chest computed tomography angiography revealed marked stenosis of the right pulmonary artery, irregular aortic caliber, and aortic wall thickening. Histopathological examination of the skin lesion, including immunohistochemistry and special stains, confirmed a chronic suppurative inflammation. Whole-exome sequencing was negative. A final diagnosis of granuloma faciale and Takayasu arteritis was established. Combination therapy with systemic tocilizumab, prednisone, and methotrexate, along with topical 0.1% tacrolimus ointment, resulted in a favorable clinical response. This report summarizes the clinical features of a pediatric case of granuloma faciale and Takayasu arteritis and reviews the etiology, diagnostic approach, and current treatment strategies for the disorders, aiming to enhance clinicians' understanding of these conditions.
Humans ; Male ; Child ; Takayasu Arteritis/diagnosis* ; Facial Dermatoses/diagnosis*

INTRODUCTION

Childhood Polyarteritis Nodosa (PAN) is a rare, systemic necrotizing vasculitis of the small to medium-sized vessels with an uncertain global distribution. The primary etiology is unknown. However, PAN is commonly associated with preceding Group A streptococcus infection in children. The most common cutaneous manifestations of PAN include tender subcutaneous nodules, livedo reticularis, digital ischemia and ulceration. To date, no reports have documented cutaneous PAN as a sequela of rheumatic fever.

This is a report of a 7-year-old Filipino male who presented with multiple, well-defined erythematous to hyperpigmented, firm, tender nodules, with some areas of lace or net-like macules and patches, some resolved leaving hyperpigmentation measuring 1x1 cm to 2x2 cm on the lower back, bilateral upper and lower extremities accompanied by fever, malaise, arthralgia and myalgia with a previous history of rheumatic fever. A 6mm skin punch biopsy revealed findings consistent with PAN. The patient was managed with prednisone. Due to the limited response to treatment, he was eventually given mycophenolate mofetil.

Childhood polyarteritis nodosa (PAN) is a rare form of necrotizing inflammation of the medium-sized blood vessels primarily linked to Group A streptococcal infection in children, with no known reported cases associated with rheumatic fever. However, in this case, we were able to observe that PAN could present as a probable rare sequela of rheumatic fever. This warrants close follow-up among such patients.

BACKGROUND

Takayasu Arteritis (TA) is a rare, primary large-vessel vasculitis frequently leading to stenosis and less commonly, aneurysm formation. Saccular aneurysms of the aortic arch in patients with TA are fatal, have rarely been reported and represent a significant technical challenge due to the difficult anatomical location and need for protection of the cerebral circulation. Concomitant intracerebral aneurysms in patients with TA are extremely uncommon and have mostly been documented in very few case reports in literature.

We present a case of a 31 year-old Filipino female with recurrent chest and neck pain radiating to the upper back. Computed tomographic (CT) angiography demonstrated a large saccular aortic arch aneurysm without branch stenosis. CTA of the cerebral circulation likewise demonstrated multiple, saccular, intra-cerebral aneurysms. She underwent hybrid thoracic arch repair with supra-aortic debranching via mini-sternotomy and proximal ligation of the left common carotid artery and staged endovascular aortic arch replacement with coil embolization of the ostial-to-proximal left subclavian artery segment. Post-operative aortogram showed optimal repair with thrombosed aneurysmal sac, optimal graft position, no endoleaks and preservation of cerebral circulation. Patient improved symptomatically post-procedure and remained symptom-free during follow-up after six months. Careful review of local literature suggests that this is the first Philippine TA case with a saccular aortic arch aneurysm successfully managed in this manner.

Saccular aortic arch aneurysms in patients with Takayasu are unusual and presence of concomitant multiple cerebral saccular aneurysms have rarely been reported in literature. This case highlighted that hybrid endovascular arch repair in patients with TA is feasible, minimally invasive and effective.

Objective To explore the preliminary application of single-cell RNA sequencing (scRNA-seq) in the renal arterial lesions in Takayasu arteritis (TA) patients. Methods This study included 2 TA patients with renal artery stenosis treated by bypass surgery in the Department of Vascular Surgery,Beijing Hospital.The obtained 2 renal artery samples were digested with two different protocols (GEXSCOPE kit and self-made digestion liquid) before scRNA-seq and bioinformatics analysis. Results A total of 2920 cells were obtained for further analysis.After unbiased cluster analysis,2 endothelial cell subsets,2 smooth muscle cell subsets,1 fibroblast subset,2 mononuclear macrophage subsets,1 T cell subset,and 1 undefined cell subset were identified.Among them,the two subsets of smooth muscle cells were contractile and secretory,respectively.The results of scRNA-seq indicated that enzymatic hydrolysis with GEXSCOPE kit produced a large number of endothelial cells (57.46%) and a small number of immune cells (13.21%).However,immune cells (34.64%) were dominant in the cells obtained by enzymatic hydrolysis with self-made digestive liquid. Conclusion scRNA-seq can be employed to explore the cellular heterogeneity of diseased vessels in TA patients.Different enzymatic digestion protocols may impact the proportion of different cells.
Humans ; Takayasu Arteritis ; Endothelial Cells ; Transcriptome ; Computational Biology ; Fibroblasts

OBJECTIVE: To compare the diagnostic efficiency of the 1990 American College of Rheumatology (ACR) classification criteria for Takayasu arteritis (TA) and the 2022 ACR classification criteria for TA in Chinese populations. METHODS: The clinical and imaging data of TA patients and patients with arterial stenosis or occlusion caused by atherosclerosis who were admitted to Peking University Third Hospital from May 2012 to May 2022 were retrospectively analyzed. Clinical diagnosis of TA by two rheumatologists were defined as the gold standard. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy and the area under the receiver operating characteristics (ROC) curve (AUC) of the above two classification criteria were compared. In addition, this study also attempted to apply new imaging modalities, such as color Doppler ultrasound (CDUS), computed tomography angiography (CTA), magnetic resonance angiography (MRA) and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT) in the 1990 ACR classification criteria to find whether this approach would improve the diagnostic efficiency. At the same time, the imaging features of the two groups were compared. RESULTS: The sensitivity (91.75%), positive predictive value (94.68%), negative predictive value (92.79%), accuracy (93.66%) and AUC (0.979) of the 2022 ACR TA classification criteria were better than those of the 1990 ACR TA classification criteria (45.36%, 91.67%, 66.24%, 72.20% and 0.855, respectively). In addition, we included new imaging modalities, such as CDUS, CTA, MRA and PET/CT in the 1990 ACR TA classification criteria, and the sensitivity, positive predictive value, negative predictive value, accuracy and AUC were significantly improved, which were 63.92%, 92.54%, 74.64%, 80.49% and 0.959, respectively, but still lower than those of the 2022 ACR classification criteria of TA (P < 0.001). The TA patients had more arterial stenosis (P=0.030), while the atherosclerosis patients had more arterial occlusion (P=0.021). There was no significant difference in arterial aneurysm or dissection (P=0.171). The TA patients had more involvement of ≥3 arteries (P=0.013), while the atherosclerosis patients had more unique artery involvement (P=0.011). CONCLUSION Compared with the 1990 ACR classification criteria for TA, the 2022 ACR classification criteria had higher diagnostic efficiency and might be more sui-table for the Chinese populations. Using more imaging modalities would improve the diagnostic perfor-mance of 1990 ACR classification criteria.
Humans ; Takayasu Arteritis/diagnostic imaging* ; Positron Emission Tomography Computed Tomography ; Retrospective Studies ; Constriction, Pathologic ; East Asian People ; Atherosclerosis