Successful Correction Research Articles

Prevalence, characteristics, and long-term outcomes of patients with mitral annular disjunction undergoing surgery for degenerative mitral regurgitation

Abstract Background Mitral valve prolapse (MVP) is associated with progressive mitral regurgitation (MR) requiring surgical repair. A subset of patients with MVP may also suffer from malignant ventricular arrhythmias (VAs), especially in the presence of mitral annular disjunction (MAD). Purpose To assess the prevalence, associated characteristics, and long-term outcomes of patients with MVP with and without MAD undergoing mitral valve surgery for degenerative MR. Methods Patients with MVP and moderate-to-severe or severe degenerative MR undergoing mitral valve surgery between 2010-2022 at a university hospital in Sweden were included. MAD length was measured on echocardiograms at end-systole from the insertion of the posterior leaflet on the detached mitral annulus to the border of the bulging left ventricle. Patient demographics and clinical outcomes were collected from medical records. The primary endpoint consisted of VAs, defined as sustained- or non-sustained ventricular tachycardia or high burden of premature ventricular complexes causing hospitalizations or ablation or identified at Holter monitoring. Other endpoints included sudden cardiac death, all-cause mortality, new onset postoperative atrial fibrillation, stroke, mitral valve reoperation, endocarditis, new or worsened heart failure, myocardial infarction and implantation of permanent pacemaker or cardiac defibrillator. Results Of 599 patients undergoing mitral valve surgery, 96 (16%) had preoperative MAD, with a median (Q1, Q3) MAD length of 8.0 (5.0-10.0) mm. Compared with patients without MAD, patients with MAD were younger (55 vs 63 years), more likely to be female (31% vs 17%), to have diffuse myxomatous valve disease (66% vs 25%) and bileaflet prolapse (57% vs 17%). Most patients underwent mitral valve repair (84% vs 80%). No patient had residual MAD after surgical repair. At a mean follow up time of 5.8 ± 3.5 years after mitral valve repair, VAs were more common in patients with pre-operative MAD (10% vs 2% (adjusted HR 4.52, 95% CI 1.57-13.0)) (Figure 1). There were no significant differences in the risks of other clinical outcomes. Conclusions MAD was associated with almost a 5-fold increased long-term risk of VAs after mitral valve repair despite successful anatomical correction of MAD. These findings highlight the importance of increased awareness of VAs in patients with MAD also after mitral valve surgery.

Anesthetic management of laparoscopically assisted fetoscopic surgery to correct spina bifida

Introduction. The growing incidence of intrauterine pathology in the fetus at the present stage dictates the need to develop and improve intrauterine surgical correction of defects in the fetus. Myelomeningocele (SPINA BIFIDA) is the most common and severe neural tube defect in the fetus, the severity of the neurological deficit is determined by the level of location and extent of the anomaly. By uniting doctors of various specialties (obstetricians-gynecologists, neonatologists, surgeons, anesthesiologists-resuscitators), the Clinic of the St. Petersburg State Pediatric Medical University effectively introduces methods of prenatal surgery.The objective was to demonstrate by clinical example the experience of successful fetoscopic correction of myeloneningocele to reduce maternal risks and injuries, to reduce risks aimed at protecting the tissues of the spinal cord of the fetus, as well as to reduce the need for postpartum correction of the defect in the fetus, to improve prognosis and risks of subsequent disability.Materials and methods. The article presents the first successful experience of minimally invasive laparoscopic correction of myelomeningocele in the fetus with the participation of the multidisciplinary team and the features of anesthesiological support of the method.Conclusion. Laparoscopic access, together with the optimal choice of anesthetic management in fetal surgery, allows not only to successfully correct the defect in myelomeningocele in the fetus, but also to significantly minimize and reduce the risks of injury to the mother, and also reduces the need for postpartum surgical treatment and reduce disability. Accumulation and improvement of experience, a multidisciplinary approach is the key to successful correction of intrauterine fetal pathology.

Anesthesia for Posterior Tracheopexy in Pediatric Patients.

Tracheobronchomalacia refers to an abnormally excessive collapse of the trachea and/or bronchi during exhalation. In the pediatric population, tracheobronchomalacia is increasingly recognized as a cause of morbidity and mortality. Historically, options for medical management and surgical intervention were limited, and patient outcomes were poor. Over the last decade, select US pediatric institutions have devoted significant resources to the establishment of dedicated surgery and anesthesia teams and the development of novel techniques for the successful identification, assessment, and surgical correction of tracheobronchomalacia in a highly complex subset of the pediatric population. The close communication, collaboration, and evolution of anesthesia techniques to meet the unique requirements of new surgical procedures have greatly improved patient safety and optimized outcomes. More than 800 cases have been performed across 2 US pediatric institutions using these techniques. This article reviews the posterior tracheopexy procedure, a newer but increasingly common surgery designed to address tracheobronchomalacia, and provides an overview of related anesthesia considerations and unique challenges. In addition, this article describes novel anesthesia techniques developed specifically to facilitate optimal diagnosis of tracheobronchomalacia and intraoperative management of posterior tracheopexy and similar airway surgeries. These include methods to safely enable 3-phase rigid dynamic bronchoscopy for accurate tracheobronchomalacia diagnosis, recurrent laryngeal nerve monitoring during cervical and thoracic surgical dissection, continuous intraoperative bronchoscopy to enable real-time images during airway reconstruction, and intraoperative assessment of airway repair adequacy to ensure successful correction of tracheobronchomalacia.

Stress Echocardiography in the Follow-Up of Young Patients with Repaired Aortic Coarctation.

Background: Aortic coarctation (CoA) is a congenital heart disease affecting 5-8% of patients, with long-term complications persisting despite successful correction. Stress echocardiography (SE) is increasingly used for evaluating cardiac function under stress, yet its role in repaired CoA remains under-explored. Objective: This study aimed to assess the predictive value of SE and myocardial strain in repaired CoA patients with a history of hypertension without significant gradients or with borderline gradients at rest. Methods: Between June 2020 and March 2024, we enrolled 35 consecutive CoA patients with successful repairs and either a history of hypertension or borderline Doppler gradients. Baseline and peak exercise echocardiographic measurements, including left ventricular mass index (LVMi) and global longitudinal strain (LVGLS), were recorded. Patients were followed for up to 4 years. Results: At baseline, the positive SE group had higher systolic blood pressure (SBP) and diastolic blood pressure (DBP) compared to the negative SE group. The positive SE group also exhibited significantly higher basal and peak trans-isthmic gradients. Positive SE was found in 45.7% of patients, with 68.7% of these requiring re-intervention during follow-up. A peak trans-isthmic gradient > 61 mmHg during exercise predicted recoarctation with 100% sensitivity and 71% specificity (AUC = 0.836, p < 0.004). Conclusions: SE identifies at-risk patients post-CoA repair, aiding in early intervention. A peak trans-isthmic gradient > 61 mmHg during exercise is a strong predictor of recoarctation. These findings support incorporating SE into routine follow-up protocols for CoA patients, particularly those with a history of hypertension and borderline gradients, to improve long-term outcomes and quality of life.

ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care

Abstract Introduction Anorectal malformations (ARMs) are complex congenital anomalies of the anorectal region, oftentimes also affecting the genitourinary system. Although successful surgical correction can often be achieved in the neonatal period, many children will experience functional problems in the long term. The European Reference Network for rare and complex urogenital conditions (eUROGEN) assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM. Methods The Dutch Quality Standard for ARM served as the foundation for the development of guidelines applicable on a European level. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from 7 European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected and recommendations were formed considering the current evidence and/or expert consensus. Results Lifelong follow-up, integration, and transition of care were assessed. A total of eight new studies were identified. The panel adapted 18 recommendations, adopted 6, and developed 6 de novo. Overall, the level of evidence was considered low. Conclusion Successful lifelong follow-up and transition of care require a dedicated team of pediatric and adult specialist and an individually tailored patient-centered approach. This guideline summarizes the best available evidence on follow-up of ARM patients and provides guidance for the development of structured transition programs.

Reversing the Effects of Tongue Thrusting Using Tongue Tamers

This case report presents the successful correction of a tongue thrusting habit in a 8-year-old patient using tongue tamers as the primary therapeutic intervention. The patient exhibited anterior open bite and misaligned dentition, both attributed to chronic tongue thrusting during swallowing and speech. A thorough clinical examination and orthodontic assessment confirmed the need for habit correction to prevent further malocclusion and aid in proper dental development. The treatment plan involved the placement of tongue tamers on the lingual surfaces of the maxillary anterior teeth, aimed at retraining the tongue to adopt a correct posture during swallowing. The patient was also provided with oral habit awareness exercises to reinforce the therapy. Follow-up evaluations at 3, 6, and 12 months revealed a significant reduction in tongue thrusting behavior, with a corresponding improvement in the patient’s dental alignment and closure of the anterior open bite. The successful outcome highlights the effectiveness of tongue tamers in correcting tongue thrusting when used in combination with patient cooperation and regular monitoring. This case supports the use of this minimally invasive intervention for habit correction in growing children, improving both functional and aesthetic dental outcomes.

Coarctation of aorta presenting as systemic hypertension in a young adult: A case report

A 33-year-old male who was under investigation for young onset hypertension for nine years had weak lower limb pulse and radio femoral delay on examination. Transthoracic echocardiogram revealed a bicuspid aortic valve, and a CT aortogram detected coarctation of the aorta at the junction of the aortic arch and descending thoracic aorta.Coarctation of the aorta is a rare secondary cause of hypertension in young. Symptoms of presentation may vary depending on the site and severity of coarctation. But the commonest presentation is hypertension in the upper extremity of the body. It could be associated with structural heart disease; the commonest is the bicuspid aortic valve. Treatment options for coarctation of the aorta include balloon angioplasty and surgical repair. Lifelong follow-up is needed in both treatment modalities, even after successful correction.

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders

Effective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology. In our study, we identified five distinct types of abnormal splice-causing mutations in patients with rare genetic disorders and developed a tailored antisense oligonucleotide for each mutation type using phosphorodiamidate morpholino oligomers with or without octa-guanidine dendrimers and 2′-O-methoxyethyl phosphorothioate. We observed variations in treatment effects and efficiencies, influenced by both the chosen chemistry and the specific nature of the aberrant splicing patterns targeted for correction. Our study demonstrated the successful correction of all five different types of aberrant splicing. Our findings reveal that effective correction of aberrant splicing can depend on altering the chemical composition of oligonucleotides and suggest a fast, efficient, and feasible approach for developing personalized therapeutic interventions for genetic disorders within short time frames.

Experience of accelerated ponseti method as a more convenient technique for newly diagnosed CTEV cases

The study's primary objective is to assess the effectiveness of this accelerated approach in achieving successful early correction of clubfoot deformity and improving the overall quality of life for these patients This is a prospective based hospital study where 50 patients (70 foot) taken into consideration. 50 patients randomised in two groups .one of which treated with conventional ponseti casting and other with accelerated ponseti casting. The mean days of plaster duration in accelerated casting group was 19.25 days as compared to 45.25 days in standard casting group (statistically significant, p&amp;#60;0.001). Also, Pirani score at the end of last follow up was comparable in both the groups. Tenotomy rate was slightly higher in accelerated casting group (88%) as compared to standard group (80%) which may be attributed to higher initial Pirani score in former (5.5) as compared to later (5.0). Clubfoot is socially stigmatized in underdeveloped nations; the early and optimistic outcome of the accelerated Ponseti casting procedure has a profound effect on parents as well as the orthopaedic surgeon treating them. The total length of the Ponseti casting treatment has been significantly shortened by the accelerated method without any complications.

Correction for X-Ray Scatter and Detector Crosstalk in Dark-Field Radiography.

Dark-field radiography, a new X-ray imaging method, has recently been applied to human chest imaging for the first time. It employs conventional X-ray devices in combination with a Talbot-Lau interferometer with a large field of view, providing both attenuation and dark-field radiographs. It is well known that sample scatter creates artifacts in both modalities. Here, we demonstrate that also X-ray scatter generated by the interferometer as well as detector crosstalk create artifacts in the dark-field radiographs, in addition to the expected loss of spatial resolution. We propose deconvolution-based correction methods for the induced artifacts. The kernel for detector crosstalk is measured and fitted to a model, while the kernel for scatter from the analyzer grating is calculated by a Monte-Carlo simulation. To correct for scatter from the sample, we adapt an algorithm used for scatter correction in conventional radiography. We validate the obtained corrections with a water phantom. Finally, we show the impact of detector crosstalk, scatter from the analyzer grating and scatter from the sample and their successful correction on dark-field images of a human thorax.

Poster 369: Medial and Lateral Posterior Tibial Slope in the Skeletally Immature: A Cadaveric Study

Objectives: Increased knee posterior tibial slope (PTS) angle is risk factor for primary and secondary ACL injury. Adult biomechanical research indicates that decreasing the PTS may reduce ACL injuries, and osteotomy techniques have been developed to alter tibia slope to reduce risk of re-injury. Pediatric and adolescent athletes have the highest rates of primary and secondary ACL injury, and many in this age group may have abnormal PTS angle. The purpose of this study was to evaluate PTS in medial and lateral tibial plateaus in large database of CT scans, and to develop normative PTS data in this age group. Methods: IRB approval was waived, as the specimens were donated for research, no genetic information was collected, and there were no plans for family contact. 83 pediatric knee CT scans, ranging from ages 1 to 12, were analyzed using OsiriX imaging software. The PTS was evaluated at two distinct points on sagittal CT sections: (1) At the medial tibia plateau and 2) lateral tibial plateau, both aligned with the central part of on a coronal view of the medial femoral and lateral femoral condyles respectively condyle. Results: The average medial PTS angle was 6.56° ± 3.84° and 6.81° ± 3.62° for the lateral PTS. There was not a significant statistical difference between the medial and lateral PTS (P = 0.6632, determined using an independent-samples t-test and analysis of variance). When plotting the age versus PTS, we observed a positive correlation with the medial PTS (R2 = 0.0385) and a negative correlation with the lateral PTS (R2 = 0.0393). Conclusions: The data demonstrate variability in medial and lateral pediatric PTS and provides normative values for pediatric PTS values. For pediatric patients undergoing ACL surgeries, consideration of increased PTS values that are associated with higher rates of recurrent ACL injury may influence surgical treatment techniques. Correction of increased PTS to lower ACL injury risk is performed in adults with major corrective osteotomy surgery, but such procedures have not been performed in children due to osteotomy-induced damage to growth plates. Due to open growth plates, pediatric patients may be treated with minimally invasive guide growth procedures to lower PTS, with minimal complication risk. Guided growth procedures have a long history of successful alignment correction in the coronal plane. Future animal and clinic studies may also demonstrate the safety and effectiveness of guided growth sagittal plane correction as applied to increased PTS. PTS developmental anatomy and its relationship to ACL injury is crucial for surgical advancements, including the use of low risk guided growth interventions to reduce PTS and ACL injury in pediatric patients with high risk of recurrent injury.

Spontaneous Reduction in the Intermetatarsal Angle in Distal First Metatarsal Osteotomies with No Lateral Head Displacement in Hallux Valgus.

The outcomes of first metatarsal (M1) distal osteotomies in hallux valgus (HV) can be improved, especially for intermetatarsal angle (IMA) correction, which is mainly based on lateral displacement of the M1 head (i.e., translation) through the osteotomy. Conversely, there is a spontaneous reduction in the IMA in first metatarsophalangeal joint (MTP1) arthrodesis. But we do not know whether this can be applied to distal osteotomies. We propose a distal osteotomy, called 3D chevron, which combines supination and varization of the M1 head. This might realign soft tissues around the MTP1, potentially leading to a spontaneous reduction in the IMA by an analogous mechanism to MTP1 fusion. Therefore, our study aimed to assess whether spontaneous reductions in IMAs exist in distal M1 osteotomies in the absence of lateral translations of M1 heads. A prospective continuous series of 25 3D chevrons was performed. Two groups were formed during surgery. Patients requiring no M1 head lateral displacement were included in the "successful correction without translation" group, and patients requiring M1 head lateral displacement were included in the "failed correction without translation" group. Radiographic analysis was performed preoperatively and at 1 year postoperatively. Twenty-two women and three men, with a mean age of 44.8 ± 14.2 years and a mean body mass index of 22.6 ± 4.1 kg/m2, underwent follow-up at one year after surgery. The "successful correction without translation" group was composed of HV with milder deformities (13/25 HVs, median preoperative IMA = 13 (IQR 2)) compared to the "failed correction without translation" group (median IMA = 16 (IQR 2.25) p < 0.001). Spontaneous reductions in IMAs were observed in the "successful correction without translation" group, with a median decrease in the IMA of 6 degrees (CI95%[5.5; 8.0]; p < 0.001) between preoperative and 1-year radiographs. Distal osteotomies allow for spontaneous reduction in the IMA in HV. First metatarsal head translation through an osteotomy should not be considered as the only procedure to correct IMAs in distal osteotomies.

Kite Versus Ponseti Method in the Treatment of Idiopathic Congenital Clubfoot: A Systematic Review and Meta-Analysis.

Kite and Ponseti methods are two popular manipulating methods for correcting the deformity of idiopathic congenital clubfoot. We aimed to compare the efficacy of Kite and Ponseti methods in the treatment of children with idiopathic congenital clubfoot. A search was launched on Medline/PubMed, Cochrane Central Register of Controlled Trials, the Web of Science, ProQuest, and Scopus without limits, from inception to May 1, 2024. The outcomes included the rates of initial correction and relapse (primary) as well as the number of casts and duration of treatment (secondary). Mean difference (MD) and risk ratio (RR) were calculated for numerical and dichotomous outcomes, respectively, with 95% confidence intervals (CIs). Nine studies were included. Meta-analysis showed the Ponseti method is significantly associated with a higher probability of correction (n = 6, RR = 1.23 [95% CI = 1.14, 1.32], p < 0.001) and a lower risk of relapse (n = 5, RR = 0.50 [95% CI = 0.36, 0.71], p < 0.001) compared to the Kite method. The Ponseti method utilized a lower number of casts (MD = -3.0 [95% CI = -5.8, -0.2], p = 0.04) and took a shorter duration (MD = -39.76 [95% CI = -67.22, -12.30], p = 0.02) than the Kite method. Evidence suggests that the Ponseti method results in better outcomes than the Kite method in terms of successful initial correction and lower relapse rates. However, the available studies showed varying degrees of risk of bias, and the length of follow-up was inadequate in some studies.

Quantitative analysis of temporal stability and instrument performance during field experiments of an airborne QCLAS via Allan–Werle-plots

Allan–Werle-plots are an established tool in infrared absorption spectroscopy to quantify temporal stability, maximum integration time and best achievable precision of a measurement instrument. In field measurements aboard a moving platform, however, long integration times reduce time resolution and smooth atmospheric variability. A high accuracy and time resolution are necessary as well as an appropriate estimate of the measurement uncertainty. In this study, Allan-Werle-plots of calibration gas measurements are studied to analyze the temporal characteristics of a Quantum Cascade Laser Absorption Spectrometer (QCLAS) instrument for airborne operation. Via least-squares fitting the individual noise contributions can be quantified and different dominant regimes can be identified. Through simulation of data according to the characteristics from the Allan-Werle-plot, the effects of selected intervals between in-flight calibrations can be analyzed. An interval of 30\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$30\\,$$\\end{document}min is found sufficient for successful drift correction during ground operation. The linear interpolation of the sensitivity increases the accuracy and lowers the measurement uncertainty from 1.1%\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$1.1\\,\\%$$\\end{document} to 0.2%\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$0.2\\,\\%$$\\end{document}. Airborne operation yields similar results during segments of stable flight but suffers from additional flicker and sinusoidal contributions. Simulations verify an appropriate interval of 30\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$30\\,$$\\end{document}min in airborne operation. The expected airborne measurement uncertainty is 2.45 ppbv.

In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model

X-linked adrenoleukodystrophy (ALD), an inherited neurometabolic disorder caused by mutations in ABCD1, which encodes the peroxisomal ABC transporter, mainly affects the brain, spinal cord, adrenal glands, and testes. In ALD patients, very long-chain fatty acids (VLCFAs) fail to enter the peroxisome and undergo subsequent β-oxidation, resulting in their accumulation in the body. It has not been tested whether in vivo base editing or prime editing can be harnessed to ameliorate ALD. We developed a humanized mouse model of ALD by inserting a human cDNA containing the pathogenic variant into the mouse Abcd1 locus. The humanized ALD model showed increased levels of VLCFAs. To correct the mutation, we tested both base editing and prime editing and found that base editing using ABE8e(V106W) could correct the mutation in patient-derived fibroblasts at an efficiency of 7.4%. Adeno-associated virus (AAV)-mediated systemic delivery of NG-ABE8e(V106W) enabled robust correction of the pathogenic variant in the mouse brain (correction efficiency: ∼5.5%), spinal cord (∼5.1%), and adrenal gland (∼2%), leading to a significant reduction in the plasma levels of C26:0/C22:0. This established humanized mouse model and the successful correction of the pathogenic variant using a base editor serve as a significant step towards treating human ALD disease.

A 20–YEAR FOLLOW–UP OF SUCCESSFUL SURGICAL MANAGEMENT OF DOUBLE–OUTLET RIGHT VENTRICLE WITH PULMONARY STENOSIS: A CASE REPORT

Abstract A 25–year–old man, suffering from worsening exertional dyspnea for 4 months, was referred to our Cardiology Unit. The patient was previously diagnosed with a late diagnosis of double outlet right ventricle (DORV), as well as pulmonary stenosis, VSD, and right–sided aortic arch for which he underwent a first surgical procedure around the age of 2 involving an intersternal anastomosis through a left lateral thoracotomy approach. A second intervention took place 2 years later for a radical correction of the anomaly through a median sternotomy. The patient had sporadic follow–up since then. A baseline ECG was performed, showing evidence of sinus rhythm, normal AV with a bifid P wave in lead II, slight RAD, incomplete RBBB, and asymmetric negative T waves from V1 to V3 and in aVL, and biphasic T waves in V4–V5. We performed an echocardiogram which showed: a dilated RA, a normal–sized LA, an apparently intact interatrial septum without evident shunts; a normal sized LV; EF 60%; a moderately dilated, hypertrophic and hypertrabeculated RV; FAC 33%; normal aortic flow; a minimal MR; a massive residual pulmonary insufficiency; a moderate TR; a dilatated pulmonary trunk; a normal–sized and collapsible IVC upon inspiration; PAPs of 70 mmHg; no pericardial effusion. A maximal exercise stress test appeared to be normal throughout. However, due to the severe pulmonary hypertension he was referred to our PH centre. While these patients are commonly affected by residual early or late left ventricular outflow tract obstruction, fortunately our patient was not. DORV is a relatively common congenital heart defect characterized by an abnormal connection between the ventricles and arteries, in which both the aorta and the pulmonary trunk are connected completely or predominantly to the right ventricle. The anatomical spectrum of this anomaly is quite large, and it can be associated with the presence of a VSD that often extends towards one or both of the arterial valves, allowing the flow of blood from the left ventricle to the aorta. An accurate diagnosis through echocardiography or CMR is essential in order to guide the surgical repair and the appropriate therapeutic approach for individuals affected by this anomaly. A successful surgical correction of DORV is essential, but it is important to be aware of the potential complications of post–operative PH (especially in patients with preoperative PH), which necessitates close surveillance and appropriate therapeutic management.

HEART FAILURE WITH PRESERVED EJECTION FRACTION (HFPEF) IN A PATIENT WITH RECENT TAVI AND NUMEROUS CORONARY FISTULAS OF THE LEFT CORONARY ARTERY DRAINING INTO THE VENTRICULAR CAVITY

Abstract Coronary fistula is a rare form of congenital heart disease and is defined as an abnormal connection between a coronary branch and a cardiac chamber or a large intrathoracic vessel without the interposition of the capillary circulation. The right coronary artery is the most common site of origin for coronary fistula. Other sites include the left anterior descending artery and left circumflex artery. The clinical presentation and the natural history can be extremely variable depending on the patient‘s age, fistula size, and anatomy. Small to medium–sized coronary fistulas may be asymptomatic. Large fistulas can manifest with angina pectoris due to myocardial ischemia secondary to the coronary steal phenomenon. Shunting through large fistulas can have hemodynamic consequences secondary to volume overload in the pulmonary or systemic circulation, leading to symptoms and signs of heart failure. We describe the case of an 83–year–old woman recently undergoing TAVI and suffering from primary myelofibrosis requiring periodic transfusions. Pre–TAVI coronary angiography showed coronary vessels free from significant hemodynamic lesions and multiple coronary–ventricular fistulas draining into the left ventricle. Total body aortic CT angiography did not reveal other abnormal vascular connections. One month after the aortic valve correction procedure, the patient presented with heart failure (HfpEF). At a recent follow–up visit, diuretic therapy was discontinued due to the successful correction of aortic valve disease and normal ejection fraction. Due to further anemization from the underlying hematologic condition, the patient underwent blood transfusion with worsening of dyspnea despite correction of hemoglobin levels. Discontinuation of diuretic therapy and transfusion of red blood cell units resulted in volume overload with worsening clinical condition. The presence of multiple coronary fistulas precluded an interventional approach, but therapeutic optimization and reintroduction of diuretic therapy restored the patient‘s hemodynamic compensation. Usually fistulas drain into the low–pressure venous circulation like right ventricle and right atrium. This case represents a rare instance of multiple left coronary fistulas draining into the left ventricle (only 3% of cases). Aortic valve correction may have further reduced left ventricular telediastolic pressures, worsening the shunt of coronary fistulas resulting in heart failure due to volume overload.

ВЛИЯНИЕ ВНУТРИКОРОНКОВОГО ОТБЕЛИВАНИЯ НА МИКРОТВЕРДОСТЬ ДЕНТИНА: КЛИНИЧЕСКИЙ СЛУЧАЙ С ОБЗОРОМ ЛИТЕРАТУРЫ

Aim. Analysis of literature sources about the effect of intracoronal bleaching on the microhardness of dentin, as well as demonstration of a clinical case of successful correction of tooth discoloration caused by endodontic sealant using the method of intracoronal bleaching with a one-year follow-up period. Materials and methods. A search of literature sources was carried out in the PubMed, Google Scholar, CyberLeninka databases on September 24, 2023 using keywords. Articles in English and Russian were selected for analysis. Inclusion criteria: original articles, in vitro and in situ studies, studies on extracted human teeth, studies that assessed dentin microhardness. As a result of the search, 11 sources were found in the PubMed database, 171 in the scientific electronic library e-library, and 2 in the CyberLeninka database. After eliminating duplication and assessing the inclusion/non-inclusion criteria, 7 literary sources remained. The presented clinical case demonstrates the successful correction of discoloration caused by endodontic sealant using intracoronal bleaching with 35 % hydrogen peroxide gel. Results. When analyzing the literature, laboratory studies revealed various conditions that make it possible to reduce the negative effect of the bleaching agent on dentin tissue, namely activation with an ultraviolet lamp, addition of a dye, and treatment with fluoride varnish after bleaching. In the clinical case, the desired shade was achieved in three bleaching procedures, then the existing defective restoration was replaced with a new shade-matching one. During the year of observation, there was no return of color, the aesthetic result was assessed as stable, the patient expressed high satisfaction with the result obtained. Conclusion. The intracoronal bleaching procedure can have a negative effect of varying severity on dentin microhardness. Identifying approaches that reduce this impact is a promising direction for future research. The clinical case demonstrates that intracoronal bleaching provides acceptable esthetic results and high patient satisfaction.

A hybrid approach to aortic aneurysm repair after surgical removal of the aortic coarctation in a patient with bicuspid aortic valve pathology: a clinical case

Today the aortic coarctation is considered one of the relatively most frequent congenital defects of the cardiovascular system, occuring with a frequency of 3 cases per 10,000 newborns. Despite fairly good results of radical correction, adverse long-term consequences may occur, such as persistent hypertension, recoarctation, aortic aneurysm, its dissection or even rupture. In this clinical case, a successful correction of a sac-shaped aneurysm of the aorta in adolescence was demonstrated after removal of the aortic coarctation together with bicuspid aortic valve replacement due to the combined valve disease with advantage of insufficiency.

Precise editing of pathogenic nucleotide repeat expansions in iPSCs using paired prime editor.

Nucleotide repeat expansion disorders, a group of genetic diseases characterized by the expansion of specific DNA sequences, pose significant challenges to treatment and therapy development. Here, we present a precise and programmable method called prime editor-mediated correction of nucleotide repeat expansion (PE-CORE) for correcting pathogenic nucleotide repeat expansion. PE-CORE leverages a prime editor and paired pegRNAs to achieve targeted correction of repeat sequences. We demonstrate the effectiveness of PE-CORE in HEK293T cells and patient-derived induced pluripotent stem cells (iPSCs). Specifically, we focus on spinal and bulbar muscular atrophy and spinocerebellar ataxia type, two diseases associated with nucleotide repeat expansion. Our results demonstrate the successful correction of pathogenic expansions in iPSCs and subsequent differentiation into motor neurons. Specifically, we detect distinct downshifts in the size of both the mRNA and protein, confirming the functional correction of the iPSC-derived motor neurons. These findings highlight PE-CORE as a precision tool for addressing the intricate challenges of nucleotide repeat expansion disorders, paving the way for targeted therapies and potential clinical applications.