Recurrent Symptoms Research Articles

Respiratory manifestations of pediatric granulomatosis with polyangiitis: A 12-year experience from a tertiary care facility.

Pediatric granulomatosis with polyangiitis (GPA) is associated with several pulmonary manifestations. This study aims to describe these manifestations at time of diagnosis and longitudinally at a tertiary-care pediatric hospital. We performed a retrospective chart review of patients with GPA treated at our facility between 1 January 2010 through 31 December 2021. We collected baseline demographics, reported symptoms, imaging findings, pulmonary function tests (PFTs), and laboratory data at time of diagnosis. Data were collected using 6-month observation intervals to follow recurrence of respiratory manifestations, testing during recurrence, and resultant treatment modifications. Of 13 patients treated for GPA during the study period, 12 developed respiratory tract involvement. A total of 87 6-month observation periods were analyzed. At time of diagnosis, 83% (10/12) of subjects reported respiratory symptoms, 92% (11/12) had abnormal chest computed tomography (CT) imaging, and 42% (5/12) had abnormal PFTs. Fewer than half of the patients were seen by pulmonology within 6 months of diagnosis. Eight subjects (75%) had respiratory manifestations during subsequent observation periods. Chest CT or PFTs were obtained in 23/44 (52%) of observations periods with respiratory symptoms, with pulmonary consultation in only 9/44 (20%). This is the first US study to describe respiratory manifestations in pediatric GPA patients longitudinally, finding they are common and frequently recurrent. Our cohort had almost universally abnormal imaging at diagnosis regardless of respiratory symptoms. Early collaboration with pediatric pulmonology in the care of GPA patients may allow rheumatology teams to efficiently evaluate recurrent symptoms and address concomitant lung disease.

Biportal Endoscopic TLIF With an Expandable Cage: Technical Note and Preliminary Results in Terms of Segmental Lordosis Achievement and Disc Height Elevation.

Biportal endoscopic transforaminal lumbar interbody fusion (BE-TLIF) is a minimally invasive TLIF (MIS-TLIF) technique, commonly performed with various cage types. Expandable cages are particularly effective in achieving segmental lordosis (SL) and disc height (DH) elevation in minimally invasive TLIF. However, the published literature lacks details regarding how these outcomes can be accomplished using BE-TLIF with an expandable cage. Nine cases (10 levels) of BE-TLIF with an expandable cage were reviewed. Procedures including unilateral laminotomy and bilateral decompression, cage expansion trials, and bilateral facetectomies were carried out under biportal endoscopy to achieve SL and DH elevation. Postoperative standing x-ray images at 3 months and reconstructed computed tomography images were analyzed. The sublaminar decompression angle-measured as the angle between the spinous process and the sublaminar decompression line on axial computed tomography-was used to evaluate contralateral sublaminar decompression. All procedures were completed without changes to the surgical methods. Eight patients underwent single-level fusion, with 4 of them receiving additional decompression at adjacent levels. One patient underwent a 2-level fusion. Four cases utilized 12° lordotic cages, while the rest employed 20° hyperlordotic cages. The total time for each fusion was 152.5 ± 38.5 minutes. Segmental lordosis increased by 5.1°, with anterior and posterior DH elevations of 4.8 ± 1.7 mm and 3.1 ± 1.8 mm, respectively. No endplate injuries or early cage subsidence occurred. The mean sublaminar decompression angle was 31.8° ± 7.0°. BE-TLIF with an expandable cage may offer benefits in SL correction and DH elevation. These advantages are attributed to the use of more lordotic expandable cages, combined with contralateral facetectomies and careful endplate preparation-key features of the BE-TLIF technique. SL correction and DH elevation can be achieved through BE-TLIF, which helps to reduce the recurrence of symptoms and improves the lumbar lordotic curve.

Recurrent Gastrointestinal Symptoms and Diagnosis of Superior Mesenteric Artery Syndrome

Recurrent Gastrointestinal Symptoms and Diagnosis of Superior Mesenteric Artery Syndrome

Inflammatory Bowel Disease and Endometriosis: Diagnosis and Clinical Characteristics

Background/Objectives: Endometriosis and inflammatory bowel disease (IBD) share some epidemiological, clinical and pathogenetic features. A differential diagnosis between pelvic endometriosis and IBD may be challenging, even for expert clinicians. In the present review, we aimed to summarize the currently available data regarding the relationship between endometriosis and IBD and their possible association. Methods: The PubMed and Scopus database were considered, by searching the following terms: “Crohn’s Disease”, “Ulcerative Colitis”, “Endometriosis”, “Adenomyosis”, and “Inflammatory Bowel Disease”, individually or combined. Full-text papers published in English with no date restriction were considered. Results: Few studies have researched the possible association between endometriosis and IBD. Both conditions are characterized by chronic recurrent symptoms, which may be shared (abdominal pain, fatigue, infertility, menstrual irregularities, diarrhea, constipation). Deep infiltrating endometriosis (DIE) can cause bowel symptoms. In a large Danish study, a 50% increased risk of IBD was observed in women with endometriosis. A missed diagnosis of endometriosis and an increased risk of endometriosis has been reported in IBD. Current evidence does not support an association between endometriosis and IBD characteristics. However, IBD may be associated with DIE, characterized by pelvic symptoms (dyschezia, dyspareunia). Preliminary observations suggest an increased IBD risk in patients with endometriosis treated with hormonal therapy. Conclusions: Current findings suggest that a careful search is needed for concomitant endometriosis in subgroups of patients with IBD showing compatible symptoms and vice versa. A multidisciplinary approach including dedicated gastroenterologists and gynecologists is required for a proper search for IBD and endometriosis in subgroups of patients. This approach may avoid diagnostic delays or overtreatments for these conditions.

A new management strategy in reopening laminectomies for cases with spinal canal stenosis

Background While a laminectomy is often mandated for spinal canal stenosis, foraminal stenosis may account for pain and functional limitations instead of central canal issues. Targeted treatment directed at this specific region may enhance patient outcomes. Methods Retrospective observational study of a total of 30 patients with previous decompression laminectomies for lumbar spinal canal stenosis were operated upon for foraminotomies from November 2012 to November 2018. The surgeries were clinically done, and EMG-confirmed nerve root compressions were treated with exact decompression techniques according to the anatomy and pathology in each case. Additionally, a systematic review followed PRISMA guidelines was conducted, utilizing Scopus and PubMed databases to identify studies on reoperation rates after decompression with or without fusion in lumbar spinal stenosis. Results The results were fearsome post-operatively, trying significant improvement in pain, functional status, and walking distance. Pain reduction was achieved in 80% of patients by an increase in the Carnovsky rating scale with evidence of improved pain reduction and walking endurance; this points to minimal resulting complications of one complete case of foot drop and three infective cases managed conservatively. It was shown in the systematic review that fusion surgeries lowered the rates of reoperations at the index level but increased those for adjacent segment reoperations, while decompression alone had higher index-level reoperation rates due to recurrent stenosis. Conclusion Most of the emphasis on foraminal stenosis, rather than traditional laminectomies, significantly reduces postoperative pain and improves functional outcomes. This strategy brings a promising alternative to the management of recurrent symptoms in patients with lumbar spinal canal stenosis.

OA26 Atypical Multisystem Inflammation related to infection or just plain old polyarteritis nodosa?

Abstract Introduction We present the case of a 5-year-old boy with episodes of pyrexia of unknown origin associated with polyarthritis, central neuroinflammation and mucocutaneous manifestations. His skin biopsy demonstrated a nodular vasculitis which could be consistent with polyarteritis nodosa. Interestingly though, he had additional atypical rashes, ocular inflammation and evidence of acute and past streptococcal infection and his fever and CRP normalised prior to corticosteroid initiation. Case description A five-year-old British African male presented with five-week history of persistent fever, headaches, joint pain and bilateral eye pain. He was transferred to a tertiary paediatric infectious disease’s unit due to unrelenting fever with no fixed pattern, despite nine days of broad-spectrum intravenous antibiotics. He was diagnosed with neuroinflammation of uncertain aetiology, evidenced by leptomeningeal enhancement and bilateral papillitis on brain MRI. CSF microbiology and autoimmune profiles were negative. There was no evidence of primary malignancy. The fever resolved with pulsed IV methylprednisolone and the child was discharged home on a weaning regime of oral prednisolone. After stopping steroid treatment, he represented with high-grade fever, limping, anterior uveitis and new-onset non tender cutaneous lesions, plaques over eyelids and cheek and annular lesions over arms, legs and buttocks. Repeat MRI of the brain and spine showed resolution of previous neuroinflammation. Blood tests revealed raised ANA, IgG and ASOT titre, and his throat swab was positive for Group A Streptococcus. He completed 10 days of intravenous antibiotics and oral high dose ibuprofen (10 mg/kg TDS). On review by tertiary paediatric rheumatology, he was identified to have pleomorphic skin rash and subcutaneous nodules. Skin and deep tissue biopsy confirmed lobular and septal panniculitis with necrotising vasculitis, consistent with a nodular vasculitis. Treatment with high-dose steroid and mycophenolate mofetil (MMF) was initiated, but his CRP and fever had resolved prior to his first dose. He experienced improvement in systemic symptoms and arthritis; however, skin lesions persisted, with appearance of new lesions and hyperpigmentation, on reduction of steroid dose. His course was complicated by acute varicella infection, requiring oral aciclovir. Further treatment trials included topical tacrolimus and topical corticosteroids for his skin lesions. At one biopsy site, he experienced significant delay in wound healing. The genetic panel for primary immunodeficiency panel (R15) demonstrated no pathological variants. Discussion This case report highlights that, whilst the biopsy may be consistent with nodular vasculitis, such as PAN, the clinical manifestations are not perfectly aligned. Discussion within the rheumatology community would support optimal patient care. Childhood-onset Polyarteritis Nodosa (c-PAN) is a rare systemic vasculitis. Although the aetiology is unknown, associations with infections like group A streptococcus and hepatitis B suggest a postinfectious autoimmune response. There are no clear genetic links to PAN, but PAN-like vasculitis is part of reported monogenic autoinflammatory conditions. Key atypical features in this case include uveitis at presentation, nonspecific central neuroinflammation, unusual cutaneous lesion morphology, improvement of acute phase reactants before immunomodulatory treatment, and delayed biopsy wound healing. While ocular findings in PAN may include episcleritis, scleritis, keratitis, retinal vascular occlusions, and ocular ischemic syndrome, uveitis has not been reported in c-PAN. The patient also showed nonspecific inflammatory changes on initial MRI. Neurological involvement in c-PAN typically includes cerebrovascular accidents, cranial nerve palsies, and mononeuritis multiplex, with meningeal involvement being less common (reported 4% in a study of 69 children). Additionally, the patient experienced delayed wound healing following the biopsy, which is undocumented in c-PAN, but may be related to immune modulating treatment. A positive streptococcal throat swab could suggest an immune reaction as part of bacterial tonsilitis, or Acute Rheumatic Fever. However, he did not meet Jones Criteria, there was no response to prolonged antibiotics and the chronic remitting nature made these less likely. An autoinflammatory disorder, Deficiency of Adenosine Deaminase 2 (DADA2), was also considered but he had no evidence of livedo racemosa, strokes and no CECR1 mutation was identified. Our case has been discussed within a multidisciplinary team and we speculate that it could represent a previously undefined immune sensitivity within the autoimmune, autoinflammatory and immune deficiency spectrum giving an exaggerated response to infection. Key learning points • This case presents a significant diagnostic challenge due to its atypical clinical features and inconclusive extensive investigations, including immunologic testing, tissue biopsy, and genetic analysis. • While the patient’s symptoms improved with high-dose steroids and MMF, the recurrence of symptoms upon tapering steroids underscores the persistent inflammatory nature of the disease. • The detection of group A Streptococcus in the patient’s throat swab suggests a potential postinfectious autoimmune trigger, highlighting the role infections can play in the pathogenesis of vasculitis. The negative results from the R15 Primary Immunodeficiency panel suggest that more advanced genetic and immunologic testing may be beneficial. • We invite discussion on whether additional genetic or immunologic testing could optimise this patient’s care and contribute to the broader understanding of atypical vasculitis syndromes.

P59 Multicentric osteolysis nodulosis and arthropathy syndrome: a case report in Erbil - Iraq

Abstract Introduction Multicentric osteolysis nodulosis and arthropathy (MONA) is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the MMP2 pathogenic variants have been identified in an affected family member, it is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Case description The patient is a 15-year-old female living in Erbil, Kurdistan. Her condition started when she was 10 months old, as she began walking and experienced recurrent sore throat. At age 4 year, she had a history of falling, developed stiffness and contracture in her elbow that made it difficult to move. A few months later, she developed a painful swelling/mass in her left foot that interfered with her walking. She had delayed tooth eruption, with only 2 teeth appearing per 2 years, her fontanelle did not close until age 3 years. At age 4, she had a fall that caused stiffness in her right hand. Over the next few years, she developed masses/swelling and pain/stiffness in her feet, hands, elbows, knees, and ankles, leading to deformities. She did not have any hearing problems but missed 3 years of school due to her condition. Back pain started 3 years ago and has been decreasing Family History: Her sister, at age 4, had pain and mild swelling in her hands and feet, along with facial abnormalities. Another 4-year-old child in the family was admitted to the ICU with similar symptoms. Complete blood count, serum biochemistry, rheumatoid profile was normal. Ultrasound of abdomen and ECHO was normal. On radiological imaging done for hands, feet, spine, in which in hands has diffuse generalized osteopenia, decrease joint spaces, resorptions of the phalanges, or cortical thinning and expansion of the phalangeal, metacarpal and metatarsal bone with deformity, and in x-ray of spine shows osteopenia with scoliosis. Dexa scan done for hip and spine which reveals (-6) severe osteoporosis. The results of genetic testing on 26th of October, led to the diagnosis of MONA syndrome. The patient was started on supportive treatment (alendronate tablet 70 mg per week, Vit D tablet 5000 IU per day, NSAID for pain and physiotherapy). Discussion The existing literature on MONA syndrome has broadly characterized the skeletal manifestations in the hands and feet. However, more detailed information is needed regarding specific skeletal involvement, ray involvement (which fingers/toes are affected), type and number of joints affected, laterality (whether the involvement is symmetrical or asymmetrical), type and severity of deformities, characteristic sparing of individual joints, if any longitudinal studies could help track the chronological order of joint involvement, especially in the larger or proximal joint Research on MONA syndrome has described the skeletal manifestations in the hands and feet, but further study is needed to understand the specifics of ray involvement, joint involvement, laterality, and severity of deformity. Longitudinal studies can help track the progression of joint involvement, particularly in larger joints. The recurrence of symptoms after orthopedic surgery in one patient highlights the progressive nature of the syndrome and suggests that early surgical intervention may not be effective. Due to the rarity of MONA syndrome, it is difficult to fully understand the pattern of the syndrome’s phenotype. Furthermore, reported correlations between the syndrome’s genetic and phenotypic characteristics have been inconsistent and inconclusive The treatment for MONA syndrome is primarily supportive and includes physical therapy to slow the development of contractures and prolong mobility. Pain relief may not be achieved through medication unless the pain is caused by secondary osteoarthritis or contractures. Additionally, daily recommended supplementation of vitamin D and calcium; standard management of congenital heart defects; management of scoliosis and kyphosis per orthopedist. Key learning points • The complicated diagnostic process for MONA syndrome necessitates a re-review of the reported phenotype-genotype correlations. By expanding the understanding of the phenotype, including the detailed skeletal manifestations, the goal is to reach a consensus on the diagnostic criteria for MONA syndrome. The aim of this case report was to systematically describe the clinical manifestations, with a focus on the skeletal features, in children with molecularly confirmed MONA syndrome, and to establish relevant phenotype-genotype correlations.

Takotsubo Syndrome: An International Expert Consensus Report on Practical Challenges and Specific Conditions (Part-2: Specific Entities, Risk Stratification and Challenges After Recovery)

Takotsubo syndrome (TTS) still remains as an enigmatic phenomenon. In particular, long-term challenges (including clinical recurrence and persistent symptoms) and specific entities in the setting of TTS have been the evolving areas of interest. On the other hand, a significant gap still exists regarding the proper risk-stratification of this phenomenon in the short and long terms. The present paper, the second part (part-2) of the consensus report, aims to discuss less well-known aspects of TTS including specific entities, challenges after recovery and risk-stratification.

Bone resorption as a marker for delayed esophageal perforation post anterior cervical spine surgery: a retrospective analysis and call for increased vigilance

PurposeDelayed esophageal perforation following anterior cervical spine surgery (ACSS) is a rare but serious complication. This study is to investigate the clinical characteristics, diagnostic approaches, and treatment outcomes of delayed esophageal perforation following ACSS, with a focus on the role of bone resorption around internal fixations as a potential diagnostic indicator.MethodsWe retrospectively analyzed patients diagnosed with delayed esophageal perforation after ACSS from January 2010 to December 2023 and described their clinical characteristics, diagnostic approaches, and treatment outcomes. Through the analysis of the differences in the radiomics of patients, we identified the possible clinical signs of esophageal perforation and shared our experience in treating esophageal perforation.ResultsA total of five patients met our criteria. All five patients exhibited bone resorption around their internal fixations on radiography. Although bone resorption typically suggests local infection, none of the patients showed clear signs of neck skin infection, leading us to suspect esophageal perforation as the underlying cause. Further diagnostic procedures including CT, MRI, esophagography, and endoscopy were crucial for confirming the diagnosis of delayed esophageal perforation and assessing its severity. All patients underwent surgical intervention involving implant removal and esophageal repair using a sternocleidomastoid muscle flap transfer. All patients recovered and were discharged after treatment, with no recurrence of symptoms during follow-up.ConclusionDelayed esophageal perforation should be considered in patients with neck pain or nonspecific symptoms after ACSS, especially with bone resorption around internal fixations. Clinicians should maintain high vigilance and use multimodal imaging and endoscopy for timely diagnosis. Our study indicates a significant link between bone resorption and delayed esophageal perforation despite the limited number of cases. Highlighting this association aims to raise awareness and encourage further research. Larger studies are needed to validate our findings, improve clinical guidelines, and ultimately enhance patient outcomes in orthopedics.

Giant Hiatal Hernia and P4HB Phasix TMST Mesh Hiatoplasty Outcomes

Surgical repair of giant hiatal hernia (GHH) and associated high recurrence rate defy technological advances in surgical sciences despite better instrumentation and availability of various mesh prostheses. Aim: This study evaluates the safety and efficacy of long-lasting biosynthetic absorbable Poly 4 Hydroxybutyrate Phasix TMST mesh outcomes in patients with GHH undergoing hiatal hernia repair. Methods: We studied a prospectively maintained database of all patients who underwent GHH repair between September 2020 and October 2023. Primary outcome measures were 30-day mortality and postoperative morbidities. Secondary outcome measures were 90-day readmission rates, patient-reported outcomes derived through modified Visick grading and recurrence of hiatus hernia. Results: 44 patients were included in this study. Median follow-up is twenty-four months. There was no mortality at 30 days. 4.5% (n=2) experienced significant complications at 30 days. Median length of stay was 3 days. 81% reported clinical improvement with enhanced Visick grade, and proton-pump inhibitor (PPI) cessation rate was 77.4%. There were no readmissions at 90 days. 9.1% who reported symptom recurrence had anatomical hiatus hernia recurrence. Conclusion: The study showed laparoscopic hiatoplasty with P4B Phasix TMST mesh has low morbidity and recurrence with medium-term follow-up.

Insights into Molecular and Cellular Mechanisms of NeuroCOVID

Post-COVID-19 syndrome (PCS) is defined by the persistence or recurrence of symptoms after an initial acute SARS-CoV-2 infection [...]

Discussion of the Current Treatment Methods for Degenerative Lumbar Spondylolisthesis

Degenerative spondylolisthesis (DS) is caused by degeneration that causes the lumbar vertebral body of the diseased segment to be displaced relative to the lower vertebral body, which is usually forward, and is not accompanied by pedicle fracture or defect, also known as "pseudospondylolisthesis". DS is more common in the L4/L5 segment, followed by the L3/L4 and L5/S1 segments, and is mostly mild slippage of the first and second degrees [2-4]. At present, the pathogenesis of DS is not fully understood, and it may be related to age-related degeneration of supporting structures, such as intervertebral discs, facet joints, bones, ligaments, facet capsule, and paravertebral muscles. In addition, the decrease in estrogen in women is also associated with the development of DS [1]. Clinically, DS is characterized by recurrent symptoms such as low back and leg pain, numbness of the lower limbs, intermittent claudication, and in severe cases, colorectal symptoms may occur [4].

Impact of Treatment on Rate of Biphasic Reaction in Children with Anaphylaxis

Objective: Our goal was to characterize a large group of children presenting to the emergency department (ED) with acute anaphylaxis, treated with intramuscular epinephrine (IM EPI) and a corticosteroid (CS), and to determine the impact of pharmacologic intervention on the rate and timing of biphasic reactions (BPR). Methods: We reviewed consecutive children diagnosed with acute anaphylaxis managed in three EDs during a six-year period. All received IM EPI and CS, followed by monitoring for 4–6 hours post-treatment. We analyzed the rate and timing of BPR, comparing the intervals of 0–4vs4–48 hours after initiating therapy. Results: During the study period, there were 371 cases of anaphylaxis, of which 357 (94%) received both IM EPI and CS. Of these, 49 (14%) manifested BPR [84% had received prehospital IM EPI] requiring at least one additional dose of IM EPI [14% required ≥2 additional doses]. All BPR episodes occurred within the 0–4 hour interval after initiating therapy, whereas no patient manifested a BPR requiring an additional dose of IM EPI during the 4–48 hours after initiating therapy (P =<0.001, 95% CI 0–1.3%). No patient returned to the ED with recurrence of anaphylaxis symptoms within 48 hours after discharge. Conclusion: Approximately 1 in 7 children with anaphylaxis experience a biphasic reaction after receiving intramuscular epinephrine. Children with anaphylaxis who exhibit symptomatic resolution four hours following initiation of therapy have a low risk for subsequently developing BPR. Most BPR cases required only one additional dose of IM EPI to effect resolution. The rate of BPR in those receiving IM EPI and a corticosteroid is significantly lower >4 hours vs <4 hours after initiating therapy.

Trauma and social pathways to psychosis: Examining the role of attachment, social rank and dissociation in a clinical sample.

The trauma and social pathways model of psychosis proposes interactions between trauma, attachment, social rank and dissociation in pathways to psychosis, though this model has yet to be empirically investigated. The primary aim of this study was to examine the overall predictive value of the trauma and social pathways model using regression analysis. A secondary aim was to delineate hypothesized pathways between trauma and positive symptoms of psychosis using serial mediation analysis. This was a cross-sectional study of people attending mental health services for a psychosis-related diagnosis (N = 71). Measures of trauma, positive symptoms of psychosis, attachment, social comparison and dissociation were completed. A model of recurrent trauma, insecure attachment, social rank and dissociation predicted 23.2% of the variance in positive symptoms of psychosis. Recurrent trauma, attachment and dissociation contributed significantly to the model, while social rank did not. Further, serial mediation analysis indicated that the sequence of disorganized attachment and dissociation fully mediated the relationship between recurrent trauma and positive symptoms. Results provide preliminary support for the trauma and social pathways model of psychosis, specifically as it relates to recurrent trauma, insecure attachment and dissociation. Results did not support the social rank component of this model, however. These findings provide clear targets for the development of next-wave psychological interventions that focus on trauma-related variables in psychosis. Future studies should replicate these findings with a larger clinical sample, and consider a measure of shame to further elucidate social processes in pathways to psychosis.

Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.

Although familial Mediterranean fever (FMF) is a relevant disease in countries surrounding the Mediterranean Sea, there are still few reports from Italy. We retrospectively evaluated patients with FMF diagnosed according to the EuroFever/PRINTO classification criteria in three pediatric rheumatology referral centers in central-southern Italy. Logistic regression analysis assessed the associations between age at disease onset and symptoms. Overall, 48 patients were enrolled (28 females, 20 males), with a median age at onset of 3.3 [3.1] years, and a median follow-up period of 5.1 [10.8] years. The most common MEFV genotype was M694V/- (11 patients, 22.9%), followed by M694V/M694V (6 patients, 12.5%). At onset, recurrent fever was observed in 47 patients (97.9%), with a median time between attacks of 18 [11] days. Overall, recurrent fever was observed in all patients, abdominal pain in 44 (91.7%), and chest pain in 18 (37.5%). At the last follow-up visit, 24 patients were on colchicine (50%), 2 on biologic (4.2%), and 6 on both (12.5%). Canakinumab was the most used biologic drug, in 6 (12.5%) patients. MEFV genotype was associated with disease severity (p = 0.007) and the use of a biological drug (p = 0.01). FMF prevalence in the Abruzzo region was found highly than expected (at least 1:45,000). Differently, we found a relevant gap among FMF patients expected and observed in the Apulia and Sicily regions. FMF is a relevant issue in central-southern Italy. A large epidemiologic study should be performed to better define its prevalence in the country. Key Points • Italian children with familial Mediterranean fever tend to have an early age of onset, primarily manifesting with recurrent fever and characteristic associated symptoms. • Many MEFV gene variants are present in Italian children with familial Mediterranean fever, and these patients are most often heterozygous, exhibiting a mild to moderate phenotype. • The prevalence of familial Mediterranean fever in Italy is still unknown but recently estimated to be around 1:60,000, probably higher in central and southern Italy. • According to our cohort, the prevalence of FMF in the Abruzzo region is at least 1:45,000, higher than expected. Differently, we found lower prevalence rates of the disease in Apulia and Sicily.

Complete extraction of main pancreatic duct residual and microstones using an 8-wire basket catheter

Extracorporeal shock wave lithotripsy (ESWL), pancreatoscopy-guided electrohydraulic lithotripsy (EHL), and endoscopic retrograde cholangiopancreatography (ERCP) are primary treatments for symptomatic main pancreatic duct (MPD) stones. However, incomplete clearance of residual/microstones post-treatment may cause symptom recurrence. We hypothesized that the 8-wire biliary basket catheter could be suitable for MPD stone extraction and aimed to analyze its ability to achieve more complete clearance of MPD residual/microstones. Patients suspected to have MPD residual/microstones ≤5 mm because of abdominal symptoms, computed-tomography examination results, and pancreatography results after previous therapy, including ERCP, EHL, and ESWL, were retrospectively enrolled. Patients with severe MPD stenosis/biliary obstruction requiring ERCP drainage were excluded. Extraction of residual/microstones was attempted using an 8-wire basket that is widely expandable in the narrow pancreatic duct and can capture and sweep stones in the narrow pancreatic duct. Technical success was defined as the extraction of residual/microstones. The primary outcome was the technical success rate. Secondary outcomes were therapeutic details of stone extraction using the 8-wire basket catheter, including symptom improvements. The technical success rate was 100% for seven patients; 1–8 residual/microstones were extracted. An improvement was observed in five patients with symptoms after the previous therapy. Three patients underwent residual stone extraction after extraction using a dedicated basket. No patient experienced symptom recurrence during the 270-day follow-up period. The 8-wire basket resulted in successful MPD residual/microstone extraction and pancreatic symptom improvement. This method may prevent symptom recurrence caused by incomplete residual/microstone clearance.

Temporal changes in FFR in initially deferred vessels in symptomatic patients

Abstract Background A sizeable proportion of deferred patients based on non ischemic FFR, continue to experience symptoms. Evaluation of serial temporal changes in FFR may help guide follow up and management in such patients. Methods Consecutive patients undergoing FFR evaluation in whom PCI was deferred were followed. Patients who had repeat angiographic evaluation for recurrent symptoms and who had FFR re-measured in the same artery were analyzed. In patients who had progression to ischemic FFR, we performed multivariate analysis to identify the factors most associated with accelerated progression. Results 796 non-ischemic lesions in 559 patients, by FFR were deferred for medical management. Among them 48 patients with 56 lesions underwent repeat FFR evaluation at a mean follow up of 686 ± 418 days (range 30 to 1649) for persistent or recurrent symptoms. FFR value significantly changed from initial mean of 0.85 ± 0.04 to 0.82 ± 0.07 with a mean difference of 0.032 ± 0.01 (P = 0.003) (Figure 1a). 51 lesions were initially non ischemic with FFR > 0.80. Among these 22 (41%) lesions progressed to develop ischemia (FFR < 0.80) from an initial mean FFR of 0.85 ± 0.037 to 0.75 ± 0.051 with a mean difference of 0.1 ± 0.054 ( P <0.001) (Figure 1 b). Among the remaining 30 patients there was no significant change in FFR (0.87 ± 0.048 vs 0.87 ± 0.041; mean difference 0.006 ± 0.05; P = 0.54). Differences in baseline characteristics were as follows (lesion progression vs. none): Age (61±5 vs 63±5;p=0.12), stenosis (58±12 vs 52±10;p=0.07) FFR (0.84±0.04 vs 0.86±0.05;p=0.2); DM (29% ± 58%; p=0.07) smoking 43 ± 48%) prior MI/revascularization (90% vs. 79%; p=0.34) CKD 5% vs. 15%; p=0.24) ACS (38% vs. 38%) and LAD (38% vs. 36%). Conclusion Among lesions, initially deferred PCI based on non ischemic FFR, recurrence of symptoms should prompt re-evaluation of ischemia as a large proportion (~40%) of these lesions may demonstrate progression to ischemia (FFR<0.80).Factors associated with progressive decline in FFR warrant further study.Repeat FFR value changesRepeat FFR with ischemia development

Real-life experience with rilonacept for the treatment of recurrent pericarditis

Abstract Background Rilonacept, a soluble Interleukin-1 (IL-1) receptor fusion protein that neutralizes IL-1α and IL-1β, has shown efficacy in symptom resolution, weaning of standard-of-care therapies, and reducing the frequency of recurrent pericarditis (RP) episodes in clinical trials. Purpose We aimed to review the efficacy, safety, and duration of treatment with Rilonacept reliance in managing RP in our practice. Methods We analyzed 22 patients with RP treated with Rilonacept, 55 [43-69] years, 11 (50%) females. We reviewed clinical characteristics and outcomes, including the time since initial diagnosis of pericarditis, the presence of pericardial effusion/thickening, the duration of Rilonacept treatment, the ability to wean off steroids, and the recurrence of pericarditis symptoms attempting discontinuation. Results The length of time from the initial diagnosis of pericarditis to Rilonacept initiation was 9 [4-32] months. Fifteen patients out of 22 (68%) had pericardial effusion, 3 (20%) with tamponade requiring pericardiocentesis. Median length of treatment with Rilonacept was 14 [6-23] months, with 17/22 (77%) of patients being treated for ≥ 6 months. All patients who were on steroids (14/22, 64%) were able to discontinue their usage 1 [1-9] months after starting Rilonacept. Of the seventeen who were treated for 6 months or more, 12 (70%) remained on Rilonacept 160 mg weekly at the most recent assessment, 3 (18%) continued treatment with Rilonacept 160 mg every 2 or 4 weeks, and 2 (12%) discontinued Rilonacept treatment after 6 and 50 months. Of the 12 patients who remained on weekly treatment after a period of 6 months, 8 (67%) required Rilonacept for symptom control, 1 (8%) had recurrent symptoms after treatment every 2 weeks, and the remaining 3 (25%) preferred to continue despite a lack of symptoms (Figure 1). Conclusions The efficacy of Rilonacept in treating patients with RP and the ability to stop steroid therapy in the real world is in line with the efficacy data from clinical trials.Figure 1

Approaches to Managing Herniated Disc Surgical vs. Conservative Treatment

Introduction Disc herniation is a displacement of an intervertebral disc, most often caused by degeneration of its outer layer, the annulus fibrosus. This condition can cause various symptoms such as numbness, pain, muscle weakness or lose of sensation. While many patients can be successfully treated with non-surgical methods, some of them some require surgical intervention. Aim of study The objective of this study is to evaluate both surgical and non-surgical treatment methods for herniated disc and seeks to introduce doctors and patients to the advantages and disadvantages associated with them. State of Knowledge Disk herniation occurs when disk material prolapses beyond intervertebral disk’s space. The symptoms may arise when displaced material start to compress major structures located nearby, such as spinal nerves. The most common causes include age-related degeneration, repetitive movements, obesity, trauma or genetic predisposition. Summary (Conclusion) Disk herniation can be managed with various non-surgical and surgical methods. Conservative treatment should be considered as first line treatment showing high success rate for mild to moderate cases in long term relief and preventing recurrence of symptoms. Surgical options offer better short-term relief for sever and more advanced cases but carry greater risks of side effects and involve longer recovery time. Best approach should be carefully selected based on the severity of symptoms and patient needs.

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) in a 15-Year-old male presenting with orofacial Swelling

BackgroundSubcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare form of non-Hodgkin lymphoma that primarily affects subcutaneous tissues. Its occurrence in the orofacial region is exceptionally uncommon, presenting diagnostic challenges due to symptom overlap with more prevalent orofacial condition.Case presentationThis report details the case of a 15-year-old male who presented with persistent left-sided facial swelling, initially misdiagnosed as facial cellulitis. Diagnostic complexity arose from the similarity of symptoms to common orofacial diseases. Comprehensive diagnostic approaches, including liquid-based thin-layer cytometry, immunohistochemistry, and advanced imaging, were pivotal in identifying SPTCL. The recurrence of symptoms following the cessation of dexamethasone treatment indicated hormone dependency. Surgical intervention and subsequent histopathological analysis confirmed SPTCL, with immunohistochemical profiling playing a critical role in the definitive diagnosis. The patient’s management involved a multidisciplinary approach, leading to a referral to a hematology specialist and subsequent favorable outcomes.ConclusionsThis case underscores the diagnostic challenges of orofacial lymphomas such as SPTCL and highlights the necessity for early, accurate pathological diagnosis. It emphasizes the role of advanced diagnostic techniques and the importance of a comprehensive, multidisciplinary approach in the management of such rare cases. This report contributes to the limited but growing body of literature on SPTCL in the orofacial region, providing insights for clinicians in similar future cases.