Stable Course Research Articles

Medication persistence among people with multiple sclerosis in Slovenia treated with dimethyl fumarate

Objective Multiple sclerosis is a chronic, demyelinating inflammatory disease of the central nervous system. Medication persistence is defined as an interval between the initiation and last dose of the applied medication and presents a useful surrogate marker of a stable disease course. This observational study aimed to evaluate medication persistence and discontinuation reasons in Slovenian people with multiple sclerosis treated with dimethyl fumarate. Methods Our retrospective cohort study evaluated people with relapsing-remitting multiple sclerosis treated with dimethyl fumarate as an initial monotherapy or switched from injectable disease-modifying therapy medication between 2014 and 2021. Medication dispenses were extracted from the Slovenian National Institute of Public Health Outpatient Medication Database. The medication persistence criterion was based on the treatment gap. Patients exceeding a 60-day gap were considered nonpersistent. The median time to discontinuation was assessed using survival analyses. Considering discontinuation reasons, patients were further divided into safety and inefficacy groups. Due to the high probability of adverse effects, patients exceeding a 60-day gap were included in the safety group, but definite discontinuation reason remains unknown. The impact of covariates was evaluated by Cox regression. Results A total of 269 patients were included (183 women, mean age 37 years). During the 7-year follow-up period, 123 (45.7%) patients discontinued treatment. The median time to discontinuation was 5.6 years. After 1, 2, and 5 years of treatment, 84%, 77%, and 57% of patients were found to be persistent, respectively. All patients older than 30 years (p = 0.0013) and among them, those in the inefficacy group (p = 0.037) were more likely to be persistent. Conclusions The results of our study proved a high persistence rate among our patients. The most frequent discontinuation reason was gastrointestinal adverse effects. Medication persistence requires interventions in younger patients with an unstable disease course.

Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome.

Describing spectrum, evolution, and clinical relationship of brain magnetic resonance imaging (MRI) findings in a large case series of children with febrile infection-related epilepsy syndrome (FIRES). This retrospective study included 31 children with FIRES. Clinical data and MRI findings of the brain were evaluated. Poor clinical outcome was defined as severe disability, persistent vegetative state or stupor, very low intelligence quotient (<80), or death (modified Rankin scale 4-6 and Glasgow Outcome Score 1-3). Seventeen (54.8%) children with FIRES showed no abnormalities in the initial MRI, whereas 28 (90.3%) children showed MRI abnormalities at follow-up. The most frequent abnormalities were brain atrophy (74.2%) and T2/fluid-attenuated inversion recovery changes (64.5%), mostly hippocampal (45.2%). Generalized brain atrophy was the most frequent type of atrophy (58%). The earliest atrophy was recorded 9 days after the onset of disease. It progressed even beyond the acute phase in most children (51.6%). The exploratory data analysis revealed nominal significance between all MRI abnormalities considered together and poor outcome (p = 0.049) and between generalized brain atrophy and anesthesia (p = 0.024). After adjustment for multiple testing, the p-values were not significant. The outcome in four (12.9%) children was not poor despite generalized brain atrophy. In contrast to the uniform clinical course, MRI demonstrated a broad spectrum of findings. Initially, these were mostly normal and therefore indicative of FIRES but then changed rapidly and were mostly progressive despite the stable chronic course. The cause may be ongoing disease, treatment intensity, or both. Future studies should focus on what process underlies the onset and the progression of brain atrophy. However, brain atrophy was not always related to poor outcomes in children despite FIRES.

Оценка температуры выдыхаемого воздуха у пациентов с различным течением хронической обструктивной болезни легких

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is an important medical problem of modern society. COPD is characterized by a heterogeneous course due to individual trajectories of pulmonary function decline, differences in the frequency of exacerbations and comorbidity. The exhaled air temperature is a parameter associated with the activity of local inflammation in the respiratory tract in COPD and, accordingly, the nature of the course of the disease. AIM: To study peak values of exhaled air temperature in patients with heterogeneous COPD. MATERIALS AND METHODS: The exhaled air temperature was assessed in patients with COPD phenotype with frequent exacerbations in comparison with patients with stable COPD and rare exacerbations and a group of healthy individuals. RESULTS: It was shown that the peak values of exhaled air temperature decreased in patients with COPD with rare exacerbations compared with healthy controls (p &lt; 0.01), but increased in patients with COPD with a phenotype of frequent exacerbations compared with both the control group (p &lt; 0.01) and COPD with rare exacerbations (p &lt; 0.01). CONCLUSION: The stable course of COPD with rare exacerbations is characterized by a decrease in the values of the exhaled air temperature compared with the healthy control, while in COPD patients with the phenotype of frequent exacerbations, the exhaled air temperature increased compared with the healthy control.

Enhanced Innate and Acquired Immune Responses in Systemic Sclerosis Primary Peripheral Blood Mononuclear Cells (PBMCs).

Chronic immune activation in systemic sclerosis is supported by the production of a plethora of cytokines with proven regulatory activities of the immune responses. This study aimed to explore PBMCs' cytokine profiles in SSc patients versus controls, as well as to investigate the balance between pro- and anti-inflammatory cytokines in association with disease duration. PBMCs were isolated from 18 SSc patients and 17 controls and further subjected to in vitro stimulation with lipopolysaccharide and heat-killed Candida albicans. Cytokine production was measured after 24 h and 7 days, respectively, using ELISA kits for interleukin (IL)-1β, IL-1 receptor antagonist (IL-1Ra), IL-6, tumor necrosis factor (TNF), IL-10, IL-17, and interferon-gamma (IFN-gamma). IL-1 β, IL-6, and TNF levels were increased in SSc patients compared with healthy volunteers irrespective of the stimulus used. IL-1Ra and Il-17 concentrations were not statistically different between groups, even though a trend toward higher levels in patients compared with their matched controls was also observed. Most cytokines demonstrated a stable course with disease progression, except for IL-10 levels, which declined over time. In conclusion, the results of this pilot study reveal that in patients with SSc a persistently enhanced immune response is established and maintained regardless of stimulus or disease duration.

Characteristics and course of patients with AA amyloidosis: single centre experience with 174 patients from Turkey.

This study aimed to evaluate the clinical, laboratory and genetic characteristics and outcomes of patients with AA amyloidosis. Patients followed up in a tertiary referral centre in Turkey with the diagnosis of inflammatory rheumatic diseases and immunohistologically proven AA amyloidosis were included in the study and retrospectively analysed. Among 184 patients with the diagnosis of AA amyloidosis, 174 (83 female, 91 male) were included in the analysis. The most common cause of AA amyloidosis was FMF (78.7%), and 91% of FMF-AA amyloidosis patients were carrying the p.M694V variant (74.1% homozygous). AA amyloidosis was identified earlier in patients with homozygous or compound heterozygous MEFV exon 10 variants compared with the heterozygous patients (27, 30 and 41 years, respectively). Patients with an estimated glomerular filtration rate <60 ml/min at admission had a higher frequency of progression to end-stage renal disease (P < 0.001). The overall mortality rate was 15.3% and it increased gradually in association with the amyloid burden (10% in patients with renal, 15% in renal + gastrointestinal and 43% in those with additional cardiac involvement). Renal findings responded completely to treatment in 31% of the patients, a partial response was observed in 4%, a stable course in 23.6% and progression in 38.5%. Amyloid storm was identified in nine patients and was found to be associated with increased mortality within 1 year. FMF patients still constitute the majority of AA amyloidosis patients in Turkey. The MEFV genotype and associated inflammatory load may affect the age of onset of AA amyloidosis, and earlier diagnosis and stricter follow-up and treatment may delay progression of the disease.

Left ventricular remodelling in rheumatic heart disease – trends over time and implications for follow-up in childhood

BackgroundRheumatic heart disease (RHD) is the most common form of acquired heart disease worldwide. In RHD, volume loading from mitral regurgitation leads to left ventricular (LV) dilatation, increased wall stress, and ultimately LV dysfunction. Improved understanding of LV dynamics may contribute to refined timing of intervention. We aimed to characterize and compare left ventricular remodelling between rheumatic heart disease (RHD) severity groups by way of serial echocardiographic assessment of volumes and function in children.MethodsChildren with RHD referred to Perth Children’s Hospital (formally Princess Margaret Hospital) (1987–2020) were reviewed. Patients with longitudinal pre-operative echocardiograms at diagnosis, approximately 12 months and at most recent follow-up, were included and stratified into RHD severity groups. Left ventricular (LV) echocardiographic parameters were assessed. Adjusted linear mixed effect models were used to compare interval changes.Results146 patients (median age 10 years, IQR 6–14 years) with available longitudinal echocardiograms were analysed. Eighty-five (58.2%) patients had mild, 33 (22.6%) moderate and 28 (19.2%) severe RHD at diagnosis. Mean duration of follow-up was 4.6 years from the initial diagnosis. Severe RHD patients had significantly increased end-systolic volumes (ESV) and end-diastolic volumes (EDV) compared to mild/moderate groups at diagnosis (severe versus mild EDV mean difference 27.05 ml/m2, p < 0.001, severe versus moderate EDV mean difference 14.95 ml/m2, p = 0.006). Mild and moderate groups experienced no significant progression of changes in volume measures. In severe RHD, LV dilatation worsened over time. All groups had preserved cardiac function.ConclusionsIn mild and moderate RHD, the lack of progression of valvular regurgitation and ventricular dimensions suggest a stable longer-term course. Significant LV remodelling occurred at baseline in severe RHD with progression of LV dilatation over time. LV function was preserved across all groups. Our findings may guide clinicians in deciding the frequency and timing of follow-up and may be of clinical utility during further reiterations of the Australia and New Zealand RHD Guidelines.

Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder: A clinical and histologic retrospective cohort study

Clonally restricted, non-epidermotropic, low-grade, CD8-positive T-cell infiltrates of the skin was recognized as a unique form of indolent CD8-positive lymphoproliferative disease in 2007 when it was first called primary cutaneous indolent CD8-positive lymphoid proliferation. More recently, the designation of primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder has been used. It is unique as a cutaneous lymphoproliferative disorder because of relative uniformity in its clinical presentation and histomorphology. It has been recognized as having an interesting predilection for the ear and acral sites, characteristically presenting as a solitary lesion. The basic morphology is one characterized by a non-epidermotropic, tumefactive infiltrate of well-differentiated, noncerebriform, atypical, small- to intermediate-sized lymphocytes that exhibit a specific phenotype characterized by CD8 and TIA positivity in concert with a distinct perinuclear Golgi staining pattern for CD68. The typical presentation is in the context of a solitary lesion, which can be treated surgically or with local irradiation. We describe in detail two very unusual cases that expand the clinical spectrum of this condition given the non-acral localization, the multiplicity of lesions to involve the trunk and extremities, and, in one case, the stable but recalcitrant course over 30 years. In addition, the second patient developed paraneoplastic dermatomyositis. We also retrospectively review our database for other cases that represent the entity of primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder and review the literature focusing on non-acral cases. Nomenclature evolution from its first recognition in 2007 to the present is discussed.

Proficiency of Clear Aligner Therapy: A Systematic Review and Meta-Analysis.

The aim of this study was to evaluate the efficacy and efficiency of orthodontic treatment using clear aligner therapy (CAT). This efficiency was measured using the Peer Assessment Rating (PAR) index, the American Board of Orthodontics (ABO) index, or the similarity between the final ClinCheck and the final scanned models. A search was done electronically between 1998 and 2021 using the Cochrane Library, PubMed, and Google Scholar databases. Three reviewers individually rated the articles. The ROBINS tool and the Cochrane risk of bias tool were used to evaluate the quality of observational research and randomized controlled trials, respectively. The degree of certainty for each selected outcome was evaluated using the grading of recommendations assessment, development, and evaluation (GRADE) approach.Six studies with a total of 166 participants were considered after the full texts of 61 potential reports were reviewed. This research included in the review covered the period from 1998 to 2021 in retrospect.According to the current systematic review and meta-analysis, transparent aligners had a successful outcome. In mild to moderate cases, aligner treatment appears to have a significant advantage in terms of efficiency (treatment time); nonetheless, insufficient evidence of efficacy was observed based on multiple cross-sectional investigations. When compared to traditional brackets, clear aligners provided a more stable course of treatment.

The possibilities of machine learning in determining the variants of the course of viral pneumonia associated with COVID-19 based on computed tomography data

Introduction. In acute COVID-19 respiratory infection caused by SARS-CoV-2 coronavirus (2019-nCov), lung damage has a different course, which has not been studied so far. The purpose of the study. To study the variants of the course of COVID-19 viral pneumonia (VP) based on the analysis of the dynamics of lung damage, quantified by computed tomography.Material and methods. Quantitative analysis of computed tomography (CT) data of the chest of 144 patients with VP was performed using the 3D Slicer software application. Cluster and comparative nonparametric analyses of the severity of lung damage (CT1, CT2, СТЗ, CT4) and the total volume of affected lungs (%) obtained during primary and two repeated CT studies (pCT, 1dCT and 2dCT) in the program "Statistica 12" were carried out.Results. With a stable course, the total volume of the affected lungs is constant, within one degree of severity: CT1 - in 23.6 %, CT2 - in 14.6 %, CT3 - in 5.6 %, CT4 - in 8.3 %. With a progressive course, the volume of lung damage gradually increases from minimum to maximum CT1-CT2-CT3 in 3.5 %, or increases to the maximum level on the second CT, remaining stable on the third study (CT2-CT3-CT3) - in 4.2 %. With a regredient course, the volume of lung damage varies from the maximum at the primary examination (pCT) to the minimum at the third (2dCT): gradually from CT4 through CT3 to CT2 in 4.2 %, or by one degree of severity CT3-CT2-CT2 in 9.7 %, CT3-CT3-CT2 in 9.0 %. With a progressive-regredient course, the volume of lung damage first reaches a maximum on 1dCT, a minimum on 2dCT - CT2-CT3-CT2 - in 17.4 %. An intragroup comparison of three repeated, dependent indicators of the total volume of the affected lungs and an intergroup comparison on pCT, 1dCT and 2dCT showed a dynamic statistically significant difference between them for variants of the course of VP (p &lt; 0.05).Conclusions. Cluster analysis of the total volume of affected lungs on a series of three CT studies in dynamics allowed us to identify 5 variants of the course of COVID-19 - stable - light, stable-severe, progressive, regredient, progressive-regredient.

P15.12.A BIUX2X2

Abstract BACKGROUND Brain metastases occur in 20-40% of cancer patients. In connection with the development of radiosurgical treatment, the problem of differential diagnosis of continued tumor growth and post-radiation changes becomes relevant. The main method of radiosurgical treatment of secondary lesions is the Gamma-Knife. Positron emission tomography with 11C-Meth and 18F-FET is an important method in monitoring the treatment of patients with secondary brain tumors. MATERIAL AND METHODS We examined 73 patients with brain metastases. Of these, 36.36% were patients with breast cancer, 39.39% were patients with lung cancer, 9.00% were patients with melanoma, 6.06% were patients with kidney cancer, 9.09% were other nosology, which corresponds to the data on the frequency of metastasis to the brain of various types of cancers. All patients underwent MRI with standard sequences (T1, T2, FLAIR, T1+C) and PET-CT with 18F-FET. PET-CT was performed according to the standard protocol: scanning 20 minutes after the INTRODUCTION of the radiopharmaceutical, scanning time 20 minutes. The evaluation of PET images was carried out by a semi-quantitative method - TBR max. RESULTS The mean age of patients with breast cancer was 54.5 ± 10.4, which significantly differs from the mean age of patients with lung cancer (65.9 ± 8.7) and the mean age of patients with other primary cancers (62.8 ± 8, 8) (Kruskal-Wallis test: H(2, N=66)=13.99052 p=.0009). Differences in TBR max and the number of metastases in these groups are not significant, as well as, according to the Kaplan-Meier analysis, differences in the duration of the relapse-free period. However, differences in the duration of the relapse-free period in the groups after a single ( Median, Q1; Q3) (12.9, 10.5; 24.4) or multiple (7.5, 3.5; 10.5) radiosurgical treatment are significant ( Gehan's Wilcoxon Test, Test statistic = 2.063905 p = .03903). Based on the analysis of the data obtained, it was found that the threshold value TBR max &amp;gt;=2.8 in 100% of cases indicates progression, TBR max &amp;lt;=1.7 indicates a stable course. Whereas TBR max in the range from 1.7 to 2.8 (in 33 people from the examined group, i.e. in 50% of all cases) may indicate both progression and post-radiation changes, as well as confirmed positive dynamics. CONCLUSION Thus, we confirmed that the numerical value of TBR max is a relative indicator. And when interpreting PET data, we cannot rely only on the TBR max value in the range from 1.7 to 2.8 for a confident judgment about the genesis of increased RP uptake in tumors. In the absence of other markers of the development of progression (for example, the appearance of new pathological foci), to assess the dynamics and confidently identify post-radiation changes, a repeat PET study should be prescribed after 2-3 months with a preliminary MRI with contrast enhancement.

Severe disease reactivation in seropositive neuromyelitis optica spectrum disorders patients after stopping eculizumab treatment

IntroductionNeuromyelitis optica spectrum disorders (NMOSD) is an autoimmune, inflammatory disease of the central nervous system affecting the optic nerves and spinal cord. Most NMOSD patients have autoantibodies against the astrocyte water channel protein aquaporin-4 (AQP4). Eculizumab treatment is used effectively and safely in AQP4-IgG+ NMOSD. Our study evaluated the prognosis and outcomes of all clinical trial (PREVENT) patients from Turkey who received eculizumab treatment for AQP4-IgG+ NMOSD. MethodClinical and demographic data of all patients enrolled in the PREVENT and OLE clinical trial in Turkey were analyzed during the study period and after the study ended. Clinical follow-up results were recorded in detail in patients who had to discontinue eculizumab treatment. ResultsThe study included 10 patients who participated in PREVENT and OLE. Seven patients completed the studies, three patients did not continue the study and were switched to other treatments. Only one of the seven patients was able to continue treatment after eculizumab was approved in AQP4-IgG+NMOSD. The other six patients could not continue treatment due to reimbursement conditions. Four of the six patients who could not continue eculizumab treatment experienced early relapse (within the first three months after stopping the drug). All of these patients had high disease activity before eculizumab and had never relapsed under eculizumab treatment over the long term. ConclusionEculizumab was used effectively and safely in Turkish AQP4-IgG+NMOSD patients with high disease activity. Disease reactivation and relapse may occur after discontinuation of eculizumab treatment in patients with a long-term stable course. In these cases, close monitoring for disease reactivation is recommended.

The impact of time length to Boolean remission for tight disease activity control after acquisition in rheumatoid arthritis patients

Clinical importance of time length from initiation under treat-to-target (T2T) strategy to acquisition of clinical remission (TL) in treating patients with rheumatoid arthritis (RA) on disease activity control, daily activities, and quality of life maintenance was investigated. In patients who achieved Boolean remission once or more, relationship between TL and patients’ background data at initiation, and relationship between TL and mean simplified disease activity score (SDAI), Health Assessment Questionnaire Disability Index (HAQ-DI) score, pain score with visual analog scale (PS-VAS), Sharp/van der Heijde Score (SHS) and quality of life score (QOLS) at the first remission and thereafter were evaluated statistically. Patients were divided into two groups whether TL was within 6 months or longer (G ≤ 6 and G > 6). Change of the parameters and Boolean remission rate (BRR) after the first remission between the two groups were compared statistically. In 465 patients, TL correlated significantly with the SDAI score, the HAQ score, PS-VAS, SHS, and the QOLS after the remission. The SDAI score and the BRR after the remission were significantly better in the G ≤ 6 than in the G > 6. TL is an important key to guarantee good and stable clinical course in treating under T2T.

ЭКСПЕРИМЕНТАЛЬНЫЕ ИССЛЕДОВАНИЯ ОЧИСТКИ СВАРОЧНОЙ ПРОВОЛОКИ ВЫСОКОВОЛЬТНЫМ ЭЛЕКТРОХИМИЧЕСКИМ МЕТОДОМ

This article presents the results of studies of the high-voltage electrochemical cathodic process of cleaning the welding wire from scale, rust and other contaminants, since the quality of the weld significantly depends on its condition. The es-sence of high-voltage electrochemical cleaning is described, according to which electrolyte is supplied to the treated surface of the workpiece by a narrow stream from the holes of the sprayer nozzle. The description of the experiments is given. The authors note the influence on the stable course of the cathodic process and the quality of cleaning of the electro-hydraulic and technological parameters of the process. They determined the absence of the welding wire hydrogenation, which is explained by the specificity of phase transformations in the near-cathode zone. Rational regimes for cleaning the welding wire are given.

Clinical Characteristics and Treatment Outcomes of Mycobacterium fortuitum Pulmonary Disease.

We evaluated the clinical characteristics and treatment outcomes of 35 patients diagnosed with Mycobacterium fortuitum-pulmonary disease (M. fortuitum-PD). Prior to treatment, all isolates were sensitive to amikacin and 73% and 90% were sensitive to imipenem and moxifloxacin, respectively. Approximately two-thirds of the patients (24 of 35) remained stable without antibiotic treatment. Of 11 patients requiring antibiotic treatment, the majority (81%, 9 of 11) achieved a microbiological cure with susceptible antibiotics. IMPORTANCE Mycobacterium fortuitum (M. fortuitum) is a rapidly growing mycobacterium that causes M. fortuitum-pulmonary disease (PD). It is common among individuals with preexisting lung conditions. Limited data exist regarding treatment and prognosis. Our study examined patients with M. fortuitum-PD. Two-thirds of them remained stable without antibiotics. Among those requiring treatment, 81% achieved a microbiological cure with suitable antibiotics. In many cases, M. fortuitum-PD follows a stable course without antibiotics, and when necessary, a favorable treatment response can be achieved with the appropriate antibiotics.

Experience of Surgical Treatment of Complex Forms of Ebstein’s Anomaly through the Method of Hemodynamic Correction

Ebstein’s anomaly (EA) is a rare and complex congenital heart disease, with a prevalence of 4 to 7 cases per 100,000 live births. At this stage of the development of EA surgery, significant progress has been made in our understanding and treatment of EA, but the question of the tactics of treating complex forms, especially in the period of infancy and early childhood, remains open. Due to significant phenotypic heterogeneity, the treatment of EA varies greatly from patient to patient and depends on many factors that require a comprehensive approach. The choice of the method of surgical correction directly depends on the anatomical features: the degree of dysplasia, rotation and displacement of the tricuspid valve, the degree of atrialization of the right ventricle, the combination with other congenital heart diseases, and the severity of hemodynamic disorders.&#x0D; The aim. To evaluate perioperative characteristics in patients with complex forms of EA, immediate and long-term results after hemodynamic correction.&#x0D; Materials and methods. In the period from 1996 to 2022, at the National Amosov Institute of Cardiovascular Surgery of the National Academy of Medical Sciences of Ukraine, one and a half ventricle repair was performed in 18 patients with complex forms of EA. There were 12 (67%) male patients, 6 (33%) female patients. The median age of the patients at the time of surgery was 30 months [3.5; 312]. The main diagnostic method in determining the defect and assessing the immediate and remote results was echocardiography and probing of the heart cavities. In order to qualitatively evaluate the perioperative, immediate and long-term results to determine the optimal tactics and terms of surgical intervention, prevention of possible complications, all the patients were divided into two age groups: I group up to 2.5 years including 9 patients (50%), II group older than 2.5 years including 9 patients (50%).&#x0D; Results. In the postoperative period, 2 (11%) deaths were noted in both groups. In all the deceased patients, the cause of death was acute heart failure and acute respiratory failure. The analysis of the postoperative period showed normal results in such a cohort of highly complex patients of both groups, but a more stable course was noted among patients of the I group, as indicated by statistically significant values for the duration of mechanical ventilation, stay in the intensive care unit, stay in the hospital, the average dose of sympathomimetic support and its duration, the total duration of exudation in the comparison groups.&#x0D; An uncomplicated course of the early postoperative period was observed in 8 (44%) patients. The remaining 10 (56%) patients of both groups had: I group, 3 (33%) patients: 7 complications; II group, 5 (55%) patients: 13 complications. In 5 patients (2 patients in I group and 3 patients in II group), attention-grabbing acute heart failure was observed, which required high doses and long-term sympathomimetic support, and in 2 patients caused death. The average observation period was 45 months [6; 190]. No deaths were observed during the observation period among 13 (72%) patients of both groups, contact was lost with 3 (17%) patients. There were no violations in the functioning of the right ventricle, but the recovery of the systolic function of the left ventricle occurred only in 8 (44%) patients.&#x0D; Tricuspid insufficiency was minimal in 5 (28%) patients, moderate in 6 (33%), severe in 2 (11%) patients.&#x0D; Conclusions. Determining the tactics of treatment of complex forms of EA is a serious problem in patients of various ages, especially in newborns and infants, due to pronounced dilatation and systolic dysfunction of the left ventricle, a sharp decrease in systemic output due to changes in the geometry of the left ventricle. The technique of hemiventricular correction shows very promising results and may become the technique of choice for patients with severe forms of EA and pronounced right ventricular insufficiency.

Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy, myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral pharmacological chaperone, was associated with a stabilization of cardiac biomarkers and a reduction in left ventricular mass index, as measured by echocardiography. A recent study, using cardiac magnetic resonance (CMR) as the gold standard, found a stable course of myocardial involvement after 18 months of treatment with migalastat. Our study aimed to provide long-term CMR data for the treatment with migalastat. Methods: A total of 11 females and four males with pathogenic amenable GLA mutations were treated with migalastat and underwent 1.5T CMR imaging for routine treatment effect monitoring. The main outcome was a long-term myocardial structural change, reflected by CMR. Results: After migalastat treatment initiation, left ventricular mass index, end diastolic volume, interventricular septal thickness, posterior wall thickness, estimated glomerular filtration rate, and plasma lyso-Gb3 remained stable during the median follow-up time of 34 months (min.: 25; max.: 47). The T1 relaxation times, reflecting glycosphingolipid accumulation and subsequent processes up to fibrosis, fluctuated over the time without a clear trend. No new onset of late gadolinium enhancement (LGE) areas, reflecting local fibrosis or scar formation of the myocardium, could be detected. However, patients with initially present LGE showed an increase in LGE as a percentage of left ventricular mass. The median α-galactosidase A enzymatic activity increased from 37.3% (IQR 5.88-89.3) to 105% (IQR 37.2-177) of the lower limit of the respective reference level (p = 0.005). Conclusion: Our study confirms an overall stable course of LVMi in patients with FD, treated with migalastat. However, individual patients may experience disease progression, especially those who present with fibrosis of the myocardium already at the time of therapy initiation. Thus, a regular treatment re-evaluation including CMR is needed to provide the optimal management for each patient.

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature.

Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

Post cholecystectomy Mirizzi syndrome: a rare complication of partial cholecystectomy as case report and review of literature

Post cholecystectomy Mirizzi syndrome (PCMS) is defined as obstruction of the CHD leading to obstructive jaundice in a patient who has undergone cholecystectomy due to remnant calculus in the cystic duct or due to compression by infundibulum of gall bladder. It is a rare condition with limited cases described in literature. Herein, we describe a case of PCMS due to retained calculus in the cystic duct 12 years after cholecystectomy in a 40 year old male who presented with a 2 month history of pain fever and jaundice recurrently. Patient was diagnosed using MRCP and CT and ERCP was done but the stone could not be retrieved and patient was managed surgically and had a stable and uneventful post-operative course. As per literature reviewed there have been only 65 reported cases of PCMS and thus limited knowledge about the condition is present. Herein, we reviewed the available literature with various possible management techniques and their outcomes and also why surgical line of treatment was chosen in this case with an open approach preferred. PCMS is a rare clinical condition that requires high index of suspicion for diagnosis and can be treated with minimally invasive as well as open approach with good results and resolution of symtptoms of the patient.

CT-defined pectoralis muscle mass and muscle density are associated with mortality in acute pulmonary embolism. A multicenter analysis

Computed tomography (CT) defined muscle mass can be used as a surrogate parameter for sarcopenia. The present study used thoracic CT to assess pectoralis muscle area and density as an imaging biomarker for prognosis of 30-day mortality in patients with acute pulmonary embolism (PE) METHODS: The clinical database was retrospectively screened for patients with thoracic CT in 3 centers. Pectoralis musculature was measured on axial slices of the thoracic CT at the level of T4 of contrast enhanced pulmonary angiography CT. Skeletal muscle area (SMA), skeletal muscle index (SMI), muscle density and gauge were calculated. Overall, 981 patients (440 female, 44.9%) with a mean age of 63.5±15.9 years were included into the study and 144 patients (14.6%) died within the 30-days period. Every pectoral muscle value was higher in survivors compared to non-survivors (exemplarily for SMI 9.9±3.5cm2/m2 versus 7.8±2.6cm2/m2, p<0.001). Moreover, 91 patients were defined as hemodynamically instable (9.3%). Comparable, every pectoral muscle parameter was higher in patients with hemodynamically stable course compared to instable course. Different muscle variables are related to 30-day mortality: SMA, OR=0.94 (95%CI= (0.92; 0.96), p<0.001); SMI, OR=0.78 (95%CI= (0.72; 0.84), p<0.001); muscle density, OR=0.96 (95%CI= (0.94; 0.97), p<0.001); muscle gauge OR=0.96 (95%CI= (0.94; 0.99), p<0.001). SMI and muscle density were independently associated with 30-days mortality: SMI, OR=0.81 (95%CI= (0.75; 0.88), p<0.001); muscle density: OR=0.96 (95%CI= (0.95; 0.98), p<0.001). Parameters of the pectoralis musculature are associated with 30-day mortality in patients with acute PE. These findings should lead to an independent validation study and ultimately to the inclusion into clinical routine as a prognostic factor.

A Penetrating Foreign Body with Sphenoid Sinus extension- A Case Report.

Introduction: Foreign bodies in the paranasal sinuses are rare and can result from high velocity trauma. Here, we report a case of a 12 year old child, who sustained a penetrating injury to the left eye with a tree branch while playing. On CT scan, the wooden foreign body was found to extend into sphenoid sinus. Patient was posted for removal of foreign body in emergency OT under antibiotic coverage. The foreign body was mobilised from surrounding structures and was removed by giving strong traction. Primary closure of the wound was done and patient recovered with a stable post-op course. Discussion: Prompt and complete removal of wooden foreign body in the paranasal sinus is important due to their close proximity to vital structures. Their location and nature can be difficult to diagnose as they can have diverse appearances on imaging. Conclusion: Foreign bodies in close proximity to the sphenoid sinus should be removed by a multi-specialist team with good knowledge of head and neck anatomy in a tertiary care centre to avoid complications.