Complete Remission Of Symptoms Research Articles

Omalizumab withdrawal outcomes in chronic spontaneous urticaria are linked with baseline IgE and eosinophil levels

BackgroundChronic Spontaneous Urticaria (CSU) is an immune-mediated skin disease that may require prolonged treatments. Currently, there are no recommendations for treatment discontinuation once CSU symptoms are controlled, particularly among patients primarily diagnosed with severe CSU. ObjectiveIn this real-life study we aimed to describe our experience of omalizumab (Oma) treatment withdrawal in CSU and define biomarkers related to these outcomes. MethodsCSU patients followed at our allergy clinic from January 2016 to December 2022 were included. Response to Oma therapy, and Oma-withdrawal outcomes among patients who reached complete remission for >6 months were analyzed. ResultsDuring the study period 192/335(%) CSU patients were categorized as severe-CSU and entitled to receive Oma according to our country's regulations. Of them, 131/192(68%) were considered “Oma-responders”, and 95/131(72.5%) patients underwent gradual treatment withdrawal. Successful Oma-withdrawal was documented in 47/95(49.5%) whereas 48/95(50.5%) patients experienced flare and were defined as unsuccessful OMA-withdrawal. The first was associated with shorter disease duration 7.1 ± 7.4 years vs. 10.7 ± 9.4 (P = 0.042), lower baseline-IgE 81.6 ± 84.1IU/ml vs. 324.7 ± 555.9 (P = 0.005), and lower baseline-eosinophils count 131.4 ± 110.5 vs. 195.6 ± 98.4 (P = 0.043) in comparison to failure of Oma-withdrawal group. ConclusionOMA may be successfully withdrawn in up to 50% of severe CSU patients following complete remission of disease symptoms, utilizing a gradual withdrawal protocol. Oma-withdrawal failure was linked with longer duration of disease as well as high IgE and eosinophil counts prior to initiation of Oma therapy. These parameters may enable the design of a treatment withdrawal algorithm.

A bispecific antibody targeting HLA-DQ2.5-gluten peptides potently blocks gluten-specific t cells induced by gluten ingestion in patients with celiac disease

The gluten-free diet for coeliac disease (CeD) is restrictive and often fails to induce complete symptom and/or mucosal disease remission. Central to CeD pathogenesis is the gluten-specific CD4+ T cell that is restricted by HLA-DQ2.5 in over 85% of CeD patients, making HLA-DQ2.5 an attractive target for suppressing gluten-dependent immunity. Recently, a novel anti-HLA-DQ2.5 antibody that specifically recognizes the complexes of HLA-DQ2.5 and multiple gluten epitopes was developed (DONQ52). ObjectiveTo assess the ability of DONQ52 to inhibit CeD patient-derived T-cell responses to the most immunogenic gluten peptides encompassing immunodominant T cell epitopes. MethodsWe employed an in vivo gluten challenge model in patients with CeD that affords a quantitative readout of disease-relevant gluten-specific T-cell responses. HLA-DQ2.5+ CeD patients consumed food containing wheat, barley, or rye for 3 days with collection of blood before (D1) and 6 days after (D6) commencing the challenge. Peripheral blood mononuclear cells were isolated and assessed in an interferon (IFN)-gamma enzyme-linked immunosorbent spot assay (ELISpot) testing responses to gluten peptides encompassing a series of immunodominant T cell epitopes. The inhibitory effect of DONQ52 (4 or 40 μg/mL) was assessed and compared to pan-HLA-DQ blockade (SPVL3 antibody). ResultsIn HLA-DQ2.5+ CeD patients, DONQ52 reduced T cell responses to all wheat gluten peptides to an equivalent or more effective degree than pan-HLA-DQ antibody blockade. It reduced T cell responses to a cocktail of the most immunodominant wheat epitopes by a median of 87.3% (IQR 72.4–92.4). Notably, DONQ52 also substantially reduced T-cell responses to dominant barley hordein and rye secalin derived peptides. DONQ52 had no effect on T-cell responses to non-gluten antigens. ConclusionDONQ52 can significantly block HLA-DQ2.5-restricted T cell responses to the most highly immunogenic gluten peptides in CeD. Our findings support in vitro data that DONQ52 displays selectivity and broad cross-reactivity against multiple gluten peptide:HLA-DQ2.5 complexes. This work provides proof-of-concept multi-specific antibody blockade has the potential to meaningfully inhibit pathogenic gluten-specific T-cell responses in CeD and supports ongoing therapeutic development.

Complication of the use of bleomycin in the management of cystic craniopharyngioma: case report

Complication of the use of bleomycin in the management of cystic craniopharyngioma: case report

Changes upon the gluten-free diet of HLA-DQ2 and TRAFD1 gene expression in peripheral blood of celiac disease patients

BackgroundCeliac disease (CD) is a chronic immuno-mediated enteropathy caused by dietary gluten in genetically susceptible individuals carrying HLA (Human Leukocytes Antigen) genes that encode for DQ2.5 and DQ8 molecules. TRAFD1 (TRAF-type zinc finger domain 1) is a gene recently found associated with CD and defined as a master regulator of IFNγ signalling and of MHC class I antigen processing/presentation. There is no specific drug therapy and the only effective treatment is the gluten-free diet (GFD). The great majority of celiac patients when compliant with GFD have a complete remission of symptoms and recovery of gut mucosa architecture and function. Until now, very few studies have investigated molecular differences occurring in CD patients upon the GFD therapy. MethodsWe looked at the expression of both HLA DQ2.5 and TRAFD1 risk genes in adult patients with acute CD at the time of and in treated patients on GFD. Specifically, we measured by qPCR the HLA-DQ2.5 and TRAFD1 mRNAs on peripheral blood mononuclear cells (PBMC) from the two groups of patients. ResultsWhen we compared the HLA-DQ mRNA expression, we didn't find significant variation between the two groups of patients, thus indicating that GFD patients have the same capability to present gliadin antigens to cognate T cells as patients with active disease. Conversely, TRAFD1 was more expressed in PBMC from treated CD subjects. Notably, TRAFD1 transcripts significantly increased in the patients analyzed longitudinally during the GFD, indicating a role in the downregulation of gluten-induced inflammatory pathways. ConclusionOur study demonstrated that HLA-DQ2.5 and TRAFD1 molecules are two important mediators of anti-gluten immune response and inflammatory process.

Secondary Benefits of Microsurgical Intervention on the Vertebral Artery (V1 Segment) for Refractory Vertebrobasilar Insufficiency: Alleviation of Parkinsonism-Like Symptoms

ObjectiveTo investigate the outcomes of micro-neurosurgical interventions on V1 segment of vertebral artery (VA) in patients with refractory vertebrobasilar insufficiency (VBI) due to dolicoarteriopathy and external compressions and to assess the secondary benefits of Parkinsonism-like symptoms. MethodsRetrospective analysis encompassed 101 patients treated for VA dolicoarteriopathy or compression-related refractory VBI from 2016-2023. Of these, 16 patients exhibited drug-resistant Parkinsonism-like symptoms. The diagnostic evaluation included cerebral CT/MR angiography or DSA and brain CT or MR perfusion studies, corroborated by preoperative and 6- and 12-month postoperative MDS-UPDRS Part 3 assessments. Data was analyzed through Turkey's 'E-nabız' system, employing Stata16 for statistical scrutiny. ResultsA significant reduction in MDS-UPDRS scores was observed (preoperative: 26.75 ± 10.91; 6 months: 23.09 ± 9.24; 12 months: 22.5 ± 8.73; P<0.001). Postoperative follow-up denoted that 43.7% of patients ceased medication, and 50% reduced antiparkinsonian drugs. The micro-neurosurgical approach resulted in complete remission of VBI-related symptoms in 84.6% of patients, with the rest showing partial or marked improvement. At six months post-operation, perfusion studies revealed posterior border zone or cerebellar perfusion enhancements in 81% (13 out of 16) of patients, with full symptom resolution, while the remaining 19% (3 out of 16) showed partial perfusion and clinical improvements, particularly in regions supplied by the posterior cerebellar artery (PCA) or posterior inferior cerebellar artery (PICA). The absence of operative mortality and minimal transient morbidities underscored the procedure's safety. ConclusionMicroneurosurgery for VA anomalies in refractory VBI patients, particularly those with concomitant parkinsonian-like syndromes, has demonstrated potential in symptom remission and medication reduction.

HYDROTHERMAL ABLATION IN RECURRENT OR CHRONIC OLECRANON BURSITIS: A PROSPECTIVE STUDY

Olecranon bursitis can be difficult to treat, resulting in persistent or recurrent symptoms. Bursectomy is a frequently applied treatment option for refractory cases but has high complication rates. This is the first in-vivo study to investigate the safety and efficacy of hydrothermal ablation, a new treatment modality for recurrent or chronic olecranon bursitis that aims to cause thermal obliteration of the bursal lining by irrigation with heated saline. First, a pilot animal trial was set up to determine a safe irrigation temperature window. Second, in a human trial the bursae of patients with chronic, recurrent or refractory olecranon bursitis were irrigated with a 3 mL/s flow of physiological saline for a duration of 180 seconds at temperatures between 50 and 52 °C. Patients were followed up for 6 months, allowing for assessment of the surgical site to screen for adverse events, volumetric ultrasound assessment of the bursae, and collection of QuickDASH, Patient Global Impression and Clinical Global impression scores, as well as data on return to activities or work. 24 elbows were prospectively included and underwent a full cycle of hydrothermal ablation. The mean age was 58.4 years (range 40.5 - 81.5), including 20 male and 4 female patients. None had clinical signs of septic bursitis. Bursal fluid cultures were positive in only one case. The average preoperative bursal volume was 11.18 cc (range 4.13-30.75). 18 out of 24 elbows (75%) were successfully treated, showing a complete remission of symptoms or decided improvement within 6 weeks and without any signs of recurrence during the entire follow-up period of 6 months. The average reduction of ultrasound-measured bursal volume was 91.9% in the group of patients that responded to treatment. In patients without recurrence the mean QuickDASH-scores before and after treatment were 13.6 (range 0-50) and 3.1 (range 0-27.5) respectively, showing a statistically significant improvement. All patients were able to fully return to work within 6 weeks after the index procedure. No serious adverse events were encountered. Moderate local adverse events were found in 2 patients. Increasing temperatures of irrigation did not result in a higher treatment efficacy. Hydrothermal ablation at temperatures between 50 and 52 degrees is a safe treatment option for recurrent or chronic olecranon bursitis with less complications than open bursectomy and a comparable efficacy.

OnabotulinumtoxinA as a promising treatment for primary trochlear headache: A retrospective case series.

To report the efficacy of onabotulinumtoxinA (BoNTA) injections in relieving pain in patients with primary trochlear headache (PRTH). Examination of medical records for patients diagnosed with PRTH according to the International Classification of Headache Disorders, 3rd edition criteria and treated with BoNTA. Data were collected for variables related to pain relief, duration of effectiveness, and adverse effects. Six patients were included in the study. All had previously undergone standard care interventions, including infiltrations or oral treatments, yet experienced treatment failure or symptom recurrence. All patients received 20 units of BoNTA, administered in the corrugator and procerus muscles. Subsequent to the BoNTA injections, all six patients reported substantial pain relief, with five achieving complete remission of symptoms. The analgesic effect persisted for a duration of 3 months. No adverse events were reported in any of the cases. Our case series presents the first evidence of the potential of BoNTA as a safe and effective treatment option for PRTH. From a clinical standpoint, having a safer alternative is of paramount significance for patients with limited treatment options, such as those with PRTH. Further research is warranted to validate these findings and explore the long-term efficacy of BoNTA in PRTH management.

Real-World Effectiveness of Omalizumab in Chronic Urticaria: A Clinical Observational Study

Introduction: The purpose of this study was to assess the clinical effectiveness and safety profile of omalizumab as a therapeutic intervention for chronic urticaria (CU). Methods: From March 1, 2023, to September 30, 2023, data on a cohort comprising 96 patients with CU, who underwent treatment with omalizumab at our medical institution’s allergy clinic, were systematically compiled. Subsequent to the administration of omalizumab, the therapeutic efficacy was assessed utilizing the 7-day urticaria activity score and the urticaria control test. Results: Based on the statistical analysis, the mean duration of therapeutic intervention was 2.4 ± 1.3 months, with a corresponding mean cumulative dosage of 765 ± 450 mg. Of the subset of 42 patients with CU who were subjected to a follow-up period exceeding 3 months, it was observed that the treatment led to complete symptom remission, and no instances of recurrence were documented. Notably, there were statistically significant differences in the treatment duration and the cumulative dosage between patients who experienced co-morbid conditions and those who did not (p < 0.01, 95% CI: 0.280–1.326; p < 0.01, 95% CI: 0.597–2.997). Furthermore, there were significant differences in the treatment duration and cumulative dosage between patients in the combined allergic rhinitis group and those in the non-combined allergic rhinitis group (p < 0.01, 95% CI: 0.204–1.305; p = 0.01, 95% CI: 0.326–2.860). Conclusion: Omalizumab demonstrates efficacy in the management of CU among Chinese patients by exerting effective symptom control and facilitating the regression of skin lesions. The assessment of its therapeutic efficacy typically requires a 12-week treatment period. Moreover, the co-occurrence of CU with other allergic disorders serves as a pertinent consideration for the adjustment of omalizumab dosing regimens.

Maintenance Electroconvulsive Therapy in Catatonia: Clinical Profiles From a Case Series.

This study aims to conduct a descriptive analysis of the clinical features and treatment responses in 6 patients with catatonia who received maintenance electroconvulsive therapy (ECT). Our study included all patients who underwent maintenance ECT (mECT) at the Hospital Clínic de Barcelona between September 2020 and September 2022 following a catatonic episode. The study cohort comprised 5 patients with schizophrenia and 1 patient with major depressive disorder. Among patients with schizophrenia, the first catatonic episode occurred several years after their initial paranoid psychotic episode, whereas the patient with depression experienced a rapid progression from the first depressive episode to catatonia. After acute ECT, 4 patients achieved complete symptomatic remission, 1 patient exhibited a partial response, and another maintained a severe catatonic state. Maintenance ECT was indicated because of the high risk of severe relapses. The mean frequency of mECT sessions was 9.83 (SD, 5.60) days. Notably, 66.67% of the patients were concurrently receiving clozapine as part of their pharmacological treatment. Among patients with schizophrenia, mECT sessions could not be extended beyond 7 to 10 days, whereas the depressed patient could space ECT sessions up to 21 days without experiencing a relapse. Maintenance ECT proves to be a safe and well-tolerated strategy for preventing relapses in severe catatonic patients who have previously stabilized with acute ECT. Further research is needed to develop clinical guidelines that define optimal application strategies for mECT in catatonia.

Blood Patch for Post-Surgical Cerebrospinal Fluid Leak: A Case Report

Intracranial hypotension syndrome may occur secondary to Cerebrospinal Fluid Leak (CSFL). Its etiology can be iatrogenic, traumatic or spontaneous. The most common cause is related to incidental or intentional punctures during anesthetic approaches. It is a rare complication during lumbar spine surgery. The clinical manifestations of this syndrome are characterized by orthostatic headache as the most frequent symptom, accompanied by a wide variety of manifestations, which frequently result in a disability for daily life activities and a delayed recovery. Diagnosis is made through a detailed medical history, the presence of symptoms and signs, and additional imaging studies. Initial treatment is conservative; however, using a hematic patch is recommended for a significant number of patients as the next step, reserving surgical treatment for cases that are not resolved with these measures. This paper presents the clinical case of a 56-year-old female patient diagnosed with CSF fistula following a surgical procedure, which is treated by applying a blood patch with complete remission of symptoms; similarly, a therapeutic algorithm is proposed for the diagnosis of CSFL.

Contrast Induced Encephalopathy: Case Report and Review of The Literature

Background: Contrast Induced Encephalopathy is a known but rare complication of endovascular procedures. Patients show neurologic symptoms mimicking a stroke and include visual disturbances, motor or sensory deficits, headache, seizures, memory loss, confusion, aphasia, and coma. Irreversible neurological symptoms are rare and fatal encephalopathy is even more so. Case Report: In this article we present a case of a 75-year-old female patient who showed neurological symptoms mimicking a stroke post cerebral Digital Subtraction Angiography that was done with Iohexol as a contrast agent, as a diagnostic work up to rule out a ruptured aneurysm. Further investigations showed no arterial spasms nor dissection. Symptoms reappeared after the second contrast administration but completely resolved after the administration of steroids and fluids. Conclusion: Contrast Induced Encephalopathy should be further investigated with imaging to rule out other thromboembolic or hemorrhagic causes. Treatment via the administration of steroids and fluids have shown to be effective with complete remission of symptoms.

Three cases of scombroid syndrome in Italy: clinical and preventive considerations.

Foodborne diseases are common sources of morbidity and mortality worldwide. Scombroid syndrome represents a particular condition since it is not directly related to the ingestion of spoiled food but is determined by high levels of histamine, a chemical mediator naturally produced within the human body under particular conditions. In these cases, histamine is formed as a result of the bacterial activity from histidine, an amino acid present at high levels in some fish species. The resulting symptomatology can range from mild symptoms such as headache and skin rash to more severe manifestations such as hypotension and coronary spasms. Reference regulations in Italy set maximum levels of histamine in food at 200 mg/kg. The cases described involve a family of three who, following the ingestion of a tuna dish, started to exhibit symptoms typical of an allergic reaction. In one case, hypotension, tachycardia, and electrocardiographic changes in the ST-tract suggestive of myocardial ischemia also appeared with negative myocardionecrosis enzyme dosage. All three cases experienced complete remission of symptoms in the absence of sequelae. Histamine concentrations in fish sampled three days later were 169 mg/kg. The cases described emphasize the importance of proper differential diagnosis as well as the importance of implementing specific controls in food hygiene.

Advances and new treatments are available for neuromuscular disorders and affect Quality of Life

Advances over the past two decades in the field of neuromuscular disorders have transformed the treatment landscape, bringing more genetic testing for screening, better laboratory analyses, new innovative therapies that target specific disease pathways and mechanisms, and a multidisciplinary approach to care. These advancements have led to more precise diagnoses and advances in the management of neuromuscular conditions, which can be life-altering for patients. This review examines how the emergence of new therapies impacts the quality of life (QoL) of parents and children with Duchenne muscular dystrophy and patients with late-onset glycogenosis type 2. Myasthenia Gravis (MG) is the most common neuromuscular transmission disorder. Despite the existence of few refractory cases, the goal of treatment is the complete remission of symptoms, achieved by thymectomy, immunosuppression, IVIG, or monoclonal antibody. Advances over the past two decades have been substantial both in mitochondrial disorders and for.MG patients that are benefitting from an expansion of treatments since more therapies are available.

Management of Ekakushta (childhood psoriasis) through Ayurveda multimodal approach: A case report

Abstract Kushta Roga is a broad term used in Ayurveda to refer to various skin ailments. Ekakushta is a type of Kshudra Kushta caused by the Vata and Kapha Dosha. Its symptoms are quite similar to those of psoriasis, including Aswedanam (no sweating/dryness), Mahavastum (affecting a large region), and Matsyashakalopamam (scaling like fish skin). Corticosteroids are usually prescribed topically to treat psoriasis, although this only offers temporary relief. Ayurveda has effective treatment of Ekakushta using a variety of interventions; nevertheless, because of the disease’s complicated etiology, a multimodal approach is necessary. A 15-year-old girl with a moderate build has been complaining for the last 4–5 years about reddish-patchy skin rashes that cause pain, scaling, and itching all over her body. She also reported recurrent relapses. The symptoms pointed to the involvement of the Vata and Kapha Dosha, suggesting Ekakushta (psoriasis). Due to the disease’s tendency toward remission and recurrence, we undertook purgative therapy (Virechana Karma) for the purification of vitiated Dosha. The patient was administered Shamana medicines for Dosha pacification and a topical application following purifying therapy. A complete remission of symptoms was noted after Ayurvedic therapy, as documented by pre- and post-therapy photos of lesions. Furthermore, there were notable declines in the Psoriasis Area and Severity Index score (32.6 to 0), Adolescent Psoriasis Quality of life Psychosocial Impact (42 to 8 at the end of treatment), and Adolescent Psoriasis Quality of life Physical Symptoms and Treatment (17 to 3) after 6 months of treatment with no documented adverse drug reactions during treatment. Ekakushta (psoriasis) is extremely difficult to treat; nonetheless, a comprehensive pathogenesis assessment, appropriate purification, and pacifying therapy work well.

Comparison of clinical efficacy of open and single channel carpal tunnel release in the treatment of carpal tunnel syndrome

Background. Open or wrist arthroscopic release of carpal tunnel is a relatively safe and reliable method. However, there is still some debate as to which of these various surgical methods is superior. Therefore, this study provides more clinical evidence by comparing the clinical efficacy of open and endoscopic single-channel bowl release in the treatment of carpal tunnel syndrome. Methods. The study conducted a retrospective analysis from January 2010 to January 2021. A total of 105 patients met the inclusion criteria, including 56 patients in the open carpal tunnel Release (OCTR) group and 49 patients in the single channel carpal tunnel release (SCCTR) group. The preoperative, intraoperative, and postoperative symptom improvement and functional recovery of the patients were compared. Results. The results of this study showed that the surgical incision healed well in all patients and complete remission of entrapment symptoms. Compared with the OCTR group, the SCCTR group had reduced surgical and hospital duration, intraoperative blood loss, postoperative scar pain score, and time required to return to normal lifestyle, and the SCCTR group had a lower incidence of sympathetic dystrophy and significantly improved clinical symptoms. Conclusion. Single Channel Carpal Tunnel Release under Carpal Arthroscopy in the treatment of carpal tunnel syndrome can achieve reliable clinical efficacy. It can relieve symptoms such as hand numbness and improve hand function. Postoperative pain and other complications are low, and worthy of clinical promotion.

Late Arteriovenous Fistula after transurethral resection of the prostate: case report

This study describes a case of symptomatic arteriovenous fistula after Transurethral Resection of the Prostate diagnosed by urethrocystoscopy and confirmed by imaging tests. The patient presented lower urinary tract symptoms associated with hematuria twenty years after being submitted to a TURP. Arterial and venous tomography angiography of the pelvis visualized a hypervascularized lesion involving the membranous urethra and aneurysm of the right external iliac artery. The patient underwent embolization of bilateral prostatic arteries with good post-embolization recovery and complete remission of urinary symptoms. Arteriovenous fistula after transurethral resection of the prostate is a rare pathology that must be considered in the differential diagnosis of persistent hematuria and infravesical obstruction without significant prostatic enlargement. In cases like this, embolization has become a new therapeutic option with excellent obliteration rates and minimal morbidity.

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

BackgroundInborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events (AE) are limited. ObjectiveWe evaluated the current off-label JAKi treatment experience for JAK/STAT IEI among ESID/EBMT-IEWP centers. MethodsMulticenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling, who received JAKi treatment for at least 3 months. ResultsSixty-nine patients (72% children) were evaluated (45 STAT1-GOF, 21 STAT3-GOF, 1 STAT5B-GOF, 1 SOCS1-LOF, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented very heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. AE (i.e. infections and weight gain) were frequent (38% of patients), but mild (grade I-II) and transient in most patients. At last follow-up, 52/69 (74%) of patients are still receiving JAKi treatment, while 11 patients eventually underwent HSCT following previous JAKi bridging therapy with a 91% overall survival. ConclusionsOur study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT-IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued.

Management of congenital urogenital and perineal vascular malformations: correlation of clinical findings with diagnostic imaging for treatment decision.

Analysis of clinical and diagnostic findings in rare urogenital and perineal vascular malformations only occurring in 2-3 % of vascular anomalies with regard to clinical symptoms and treatment decisions. All 25 out of 537 patients presenting with congenital urogenital and perineal vascular malformations at our institution from 2014 to 2021 were included. Vascular anomaly classification, anatomical location, clinical symptoms at presentation, diagnostic imaging, and pain intensity were retrospectively assessed from the patient record and therapy management was evaluated. In total, 25 patients (10 females (40 %), 15 males (60 %)), aged 6 to 77 years were included. Diagnoses were: 10 (40 %) venous malformations (VMs), 5 (20 %) lymphatic malformations (LMs) and 10 (40 %) arteriovenous malformations (AVMs). Malformation manifestations were: 12 (32 %) lesser pelvis, 12 (32 %) external genitalia, and 13 (34 %) perineal/gluteal region. One AVM was located in the kidney. The leading clinical symptom was pain. The mean intensity was 6.0/10 for LM, 5.7/10 for VM, and 4.5/10 for AVM. Further major symptoms included physical impairment, local swelling, and skin discoloration. Bleeding complications or sexual dysfunction were rare findings. Patients with VM reported significantly more symptoms than patients with AVM (p = 0.0129). In 13 patients (52 %) minimally invasive therapy was indicated: 10 (77 %) sclerotherapies and 3 (23 %) transcatheter embolization procedures. Complete symptomatic remission was achieved in 9 (69 %) patients, partial response in 3 (23 %) patients, and 1 patient showed no clinical response to therapy. Follow-up appointments without the need for immediate minimally invasive therapy were significantly more common in patients with AVMs than in patients with VMs (p = 0.0198). To create a higher awareness of congenital urogenital and perineal vascular malformations. Awareness of this rare condition avoids misdiagnosis. Therapy decisions should be symptom-oriented. Emergency intervention is rarely required, even in fast-flow vascular malformations. · Venous malformations cause more symptoms with higher pain intensity than arteriovenous malformations.. · Diagnosis and adequate treatment can be hampered by a lack of awareness of the clinical presentation.. · Bleeding complications are rare, even in high-flow vascular malformations.. · Pain and physical impairment are the most commonly observed symptoms in these patients..

Dysregulation of humoral immunity, iron homeostasis, and lipid metabolism is associated with multiple sclerosis progression.

Though most patients with multiple sclerosis (MS) presented earlier on as a relapsing-remitting (RR) disease, disability progression eventually occurred. Uncovering the mechanisms underlying progression may facilitate the unmet need for developing therapies to prevent progression. Benign MS (BMS), a rare form of MS, is the opposite from secondary progressive MS (SPMS) in that it lacks disease progression defined as Expanded Disability Status Scale (EDSS) ≤3 after at least 15 years of disease onset. BMS is characterized by rare and mild relapses with complete remission of clinical symptoms (lower activity of the disease) and lack of progression. Our study aims to identify transcriptomic and immunological differences between BMS and SPMS to unravel the pathogenesis of disease progression. We took multi-modal approaches with microarrays, flow cytometry, and lipidomics by three-way comparisons of patients with BMS vs. RRMS (low disease activity vs. moderate or severe activity), RRMS vs. SPMS (continued activity vs. complete transformation into progressive phase) as well as BMS vs. SPMS, matched for age and disease-duration (low disease activity and no progression vs. progression with or without activity). We found that patients with RRMS and SPMS have a significantly higher percentage of B cells than those with BMS. BMS shows a different transcriptomic profile than SPMS. Many of the differentially expressed genes (DEGs) are involved in B cell-mediated immune responses. Additionally, long-chain fatty acids (LCFA), which can act as inflammatory mediators, are also altered in SPMS. Overall, our data suggest a role for the dysregulation of B cell differentiation and function, humoral immunity, and iron and lipid homeostasis in the pathogenesis of MS disease progression. BMS has a unique transcriptomic and immunological profile compared to RRMS and SPMS. These differences will allow for personalized precision medicine and may ultimately lead to the discovery of new therapeutic targets for disease progression.

Functional Movement Disorder; Importance of Proper Diagnosis and Treatment: A Case Report

Background: Dystonia is a common movement disorder with a wide range of aetiologies. Delays in the identification and initiation of effective treatments should be minimized to improve patient pain and optimize outcomes. This case report aims to underscore the successful treatment of chronic dystonia with the use of mood-modifying serotonin and norepinephrine reuptake inhibitors (SNRI), and encourage clinicians to consider a diagnosis of functional (psychogenic) movement disorder in patients with dystonia that is refractory to usual treatment.&#x0D; Case Report: This case report describes a 40-year-old woman who presented to a chronic pain clinic for pain related to cervical dystonia with associated head tremor. Her symptoms were refractory to nearly a decade of quarterly botulinum toxin injections. Based on careful evaluation of the patient’s history, a normal neurological examination, increased Generalized Anxiety Disorder Scale (GAD-7), Patient Health Questionnaire-9 (PHQ-9), and Injustice Experiences Questionnaire (IEQ) scores, and unsuccessful symptom management with botulinum toxin A, a diagnosis of functional movement disorder (FMD) was made. Low-dose Cymbalta was initiated. The patient achieved near complete symptom remission and resolution of her chronic pain within 2 months and achieved near complete resolution in 2 years.&#x0D; Conclusion: A diagnosis of FMD should be considered in all patients with dystonia, but especially in patients who respond inadequately to botulinum toxin injections or other rehabilitation therapies. The treatment of comorbid psychiatric conditions can result in substantial benefits and remission from dystonia due to FMD.