Partial Defect Research Articles

Long-term Assessment of Speech and Swallowing Function in Laryngopharyngeal Cancer Patients After J-Flap Reconstruction.

A novel J-shaped anterolateral thigh (ALT) flap reconstruction technique had been developed to simultaneously restore swallowing and speech functions in patients following total laryngopharyngectomy. This study aimed to assess the outcomes and surgical complications in patients who underwent J-flap reconstruction over time. Patients who underwent J-shaped ALT flap phonatory tube reconstruction were enrolled. Surgical morbidities and outcomes were evaluated every 3 months postsurgery for 12 months or death. Of the 36 patients, 13 underwent circumferential pharyngeal wall resection (circumferential defect group, CD group), and 23 underwent partial resection (partial defect group, PD group). After 12 months, 97% of the patients resumed oral intake without reliance on a nasogastric tube (NG tube), and 50% achieved fluent speech using the reconstructed phonatory tube. The CD group showed a higher rate of delayed healing (30.77% vs. 0%, p=0.005). The PD group exhibited significantly greater percentages of individuals consuming solid food at both the 3- and 12-month intervals than the CD group (81.0% vs. 23.1% and 78.9% vs. 40%, respectively). : This study examined the evolution of speech and swallowing functions over time following J-flap voice tube reconstruction. Regardless of whether the defect was circumferential or partial, using a J-shaped ALT flap phonatory tube effectively restored both speech and swallowing functions, offering long-lasting benefits.

Case of colon perforation due to segmental absence of intestinal musculature accompanied by cancer treated with colonic resection and anastomosis

BackgroundSegmental absence of intestinal musculature (SAIM) is a partial defect of intestinal muscularis propria without diverticulum. Many reports indicate that the increase in intestinal pressure caused by enemas or endoscopic examinations leads to bowel perforation, but there are few reports involving malignant tumors. Moreover, few reports have had good outcomes after performing one-stage intestinal anastomosis.Case presentationA 60-year-old male came to the office with right-side abdominal pain, and was diagnosed with acute generalized peritonitis caused by ascending colon perforation. Emergency laparotomy was performed, and oval and smooth perforation at the ascending colon was observed, which caused ascites with feces. In addition, there was a tumor on the distal side. The terminal ileum was not dilated, so the cause of the perforation was more likely the SAIM-related thin intestinal wall rather than increased internal intestinal pressure due to obstruction of the tumor. Therefore, a right hemicolectomy with functional end-to-end anastomosis (FEEA) between the ascending colon and ileum was performed, rather than creating a stoma. On pathological examination, the resected bowel segments had a partial defect of intestinal muscularis propria around the perforation, leading to the diagnosis of SAIM. The patient had a favorable postoperative course without anastomotic issues and was discharged safely.ConclusionsThis case implies that initial intestinal anastomosis can be performed without creating a stoma when SAIM is suspected from the shape of the perforation and proximal intestine. This case report suggests surgeons should keep SAIM in mind during operations for colon perforations.

Applying 3D-Printed Porous Ti6Al4V Prostheses to Repair Osteomyelitis-Induced Partial Bone Defects of Lower Limbs: Finite Element Analysis and Clinical Outcomes.

The clinical management of partial bone defects in lower limbs, particularly those resulting from osteomyelitis, remains a significant challenge. This study aimed to systematically evaluate the effectiveness of 3D-printed porous Ti6Al4V prostheses in addressing osteomyelitis-induced partial bone defects. We established a comprehensive protocol for utilizing 3D-printed prostheses for bone defect repair, encompassing 3D simulation of prosthesis implantation and internal fixation, finite element analysis (FEA), and clinical implementation. Mimics software facilitated simulation of fixation patterns and screw lengths. FEA modeled bone defects in the distal metaphyseal femur and distal diaphyseal tibia to assess changes in stress conduction pre- and post-prosthesis implantation. The clinical study involved eight patients (average age: 56.3 years) with an average defect length of 14.9 cm. Postoperative outcomes were evaluated using X-rays and the Lower Extremity Functional Scale (LEFS). FEA demonstrated that the implanted prostheses effectively shared stress and reduced the load on residual bone in both models, thus lowering the risk of fractures under external forces. The average follow-up period was 24.5 months, with patients initiating weight-bearing activities on average 7.8 days post-surgery. Serial postoperative X-rays demonstrated long-term stability of the prostheses, with progressive bone regeneration around and integration with the prostheses. While two patients experienced infection recurrence requiring prosthesis removal and debridement, the remaining six showed significant improvement in LEFS scores, increasing from 31.5 preoperatively to 61.0 at the last follow-up. 3D-printed porous Ti6Al4V prostheses effectively restore anatomical integrity and optimize stress conduction in lower limbs, resulting in substantial functional recovery. This innovative approach shows promise for wider clinical adoption and warrants further investigation in medical practice.

PECULIARITIES OF TEACHING THE DISCIPLINE "ORTHOPEDIC DENTISTRY, INCL. IMPLANTATION" SPP DENTISTRY AT MILITARY CONDITION

In the conditions of rapid development of modern dentistry, the providing of high-quality dental services is extremely important and requires the presence of qualified specialists. Therefore, their acquisition of professional competences should take place starting from the student ranks. Educational discipline "Orthopedic dentistry, incl. implantation" OPP Dentistry is studied by students during 3-5 courses and ensures that students acquire integral, general and professional competencies for the future provision of high-quality dental consultations and services with the use and application of modern aesthetic orthopedic structures for the replacement of partial and complete defects of the dentition, as well as elimination of pathology, which contributes to the occurrence of defects in the hard tissues of the teeth. In addition, the process of examining patients in order to establish a diagnosis and draw up a treatment plan is important. Therefore, the application of the latest teaching methods includes a combination of both theoretical knowledge and practice and consolidation of acquired and properly mastered practical skills. The education of foreign students is of great importance, which, in connection with military actions and constant air alerts caused by the danger caused by the activity of enemy strategic aviation taking place in our country, is conducted in a mixed format (online for students who are at home (by border) and offline for foreign students living and studying in Ukraine) using innovative multimedia teaching methods. The constant and continuous development of modern technologies in the field of stomatology also requires the introduction of the latest training tools and methods associated with the use of modern methods and technological support. All these challenges today are combined with student education, which takes place under martial law and requires a special approach. Therefore, it is important to provide education seekers with proper professional and safe learning conditions, which will make it possible to fully and comprehensively provide a comprehensive complex of both theoretical and practical training of future dental specialists. Thanks to the Armed Forces of Ukraine and the clear consolidation and mutual cooperation of teachers and students, the learning process not only does not stop, but also continues to develop productively, making it possible to provide and provide a sufficient amount of professional competences under the condition of simultaneous and parallel objective control of the acquisition and consolidation of appropriate level of knowledge of students of all courses and areas of dentistry. The purpose of the study is directed to the organization and implementation of the latest teaching methods with the maximum use of modern equipment and methods while respecting life safety. Materials and methods. The Department of Orthopedic Dentistry of the Ivano-Frankivsk National Medical University implements the educational program "Orthopedic Dentistry, incl. implantation" SPP Dentistry in military time conditions, aimed at students' acquisition of integral, general and professional competencies for the future provision of high-quality dental services. Research results. They indicate the need to introduce the latest actions and methods of training in connection with the constant development of modern technologies in the branch of dentistry. The conclusions of this study indicate the presence of feedback from students who is interested and stimulated by a new approach in studying, combined with real clinical cases and modern methods of their treatment and orthopedic treatment.

Evaluation of mid-term outcomes of partial and intermediate atrioventricular canal defect surgery.

The risk factors for reoperation and mortality after partial and intermediate atrioventricular canal defect repair are unclear. This study assessed the mid-term outcomes and risk factors for reoperation and mortality after partial and intermediate atrioventricular canal defect surgery. Ninety-seven patients who underwent primary repair of intermediate (n = 45) or partial (n = 52) atrioventricular canal defect between 2005 and 2019 were included in this single-centre study. The median age was 5 years (2.7-8.9 years). The median follow-up time was 32 months (1.6-90.8 months). The estimated freedom from reoperation at 1, 5, and 10 years was 97%, 91%, and 73%, respectively.In multivariable analyses, post-operative left atrioventricular valve regurgitation of grade II or higher (odds ratio [OR]: 5.3, 95% confidence interval [CI]: 1.8-15.5, p = 0.01) and post-operative residual intracardiac shunt (OR: 11.6, 95% CI: 1.6-85.8, p = 0.02) were risk factors for reoperation.In multivariable analyses, perioperative reoperation (OR: 93.4, 95% CI: 3.9-218.7, p = 0.01) and the need for right atrioventricular valve repair (OR: 11.2, 95% CI: 1.0 - 123.3, p = 0.04) were risk factors for mortality. Mortality was higher in patients under 2.6 years of age. For patients undergoing repair of partial or intermediate atrioventricular canal defect, those with post-operative left atrioventricular valve regurgitation of grade II or higher and post-operative residual intracardiac shunt have an increased reoperation risk. Higher mortality can be expected after a perioperative reoperation, and in patients requiring right atrioventricular valve repair during the index procedure.

Distraction of longitudinally split fragments using the Ilizarov method: a series of clinical cases of treating partial bone defects

Background. The Ilizarov method is a recognized technique for treating severe skeletal injuries, allowing for a comprehensive restoration of both bone and soft tissue components. Despite the fact that bone lengthening and transport are widely known techniques, distraction of a longitudinally split fragment is still used extremely rarely. The aim of the study is to describe a series of clinical cases involving patients operated on using this technique. Methods. We present a series of observations of five patients who underwent distraction of a longitudinally split fragment using the Ilizarov method between January 2006 and December 2022. Clinical information was obtained from case histories, all surgical interventions were documented. Postoperative examination was performed using radiography. Results. A case series demonstrates the successful application of this technique for reconstruction of partial bone defects resulting from trauma or osteomyelitis. The study included five patients (4 men and 1 woman) who underwent surgery 4.8-34.0 months after trauma for a partial defect of the proximal tibia ranging from 4 to 8 cm in length. Distraction was performed in different directions along the sagittal and longitudinal axes. The time of external fixation ranged from 3.5 to 4.8 months, the external fixation index ranged from 0.49 to 1.22. The ASAMI (Association for the Study and Application of the Methods of Ilizarov) functional score at the follow-up examination was excellent in all five patients. The ASAMI bone tissue assessment showed excellent results in all patients, except for one patient with residual equinus (good result). No other complications were reported. Conclusions. The Ilizarov method provides a minimally invasive and comprehensive approach to the elimination of partial bone defects, affecting simultaneously the skeletal and soft tissue components. Due to the longitudinal splitting during fragment transport and distraction osteogenesis, this method promotes bone and tissue regeneration and helps to avoid a volumetric bone defect and more complex segmental bone transport. Moreover, the role of transverse transport of the tibial cortex increases in the treatment of peripheral arterial diseases.

Short-to-Mid-Term Outcomes of Ipsilateral Femoral Head Autograft Combined with Uncemented Total Hip Replacement for Partial Periacetabular Defects Following Tumor Resection.

Periacetabular tumors, especially in young to middle-aged patients with invasive benign tumors or low-grade malignant tumors involving type II or II + III, present significant challenges due to their rarity and the complexity of the anatomical and biomechanical structures involved. The primary difficulty lies in balancing the need to avoid unfavorable oncological outcomes while maintaining postoperative hip joint function during surgical resection. This study aimed to evaluate the effectiveness and reliability of a surgical method involving partial weight-bearing acetabular preservation combined with the use of an uncontaminated femoral head autograft to reconstruct the segmental bone defect after intra-articular resection of the tumorous joint, providing a solution that ensures both oncological safety and functional preservation of the hip joint in these patients. We conducted a retrospective study with a follow-up period of at least 36 months. From January 2010 to October 2020, we reviewed 20 cases of patients under 60 year of age with periacetabular invasive benign tumors or primary low-grade malignant tumors. All patients underwent reconstruction of the tumorous joint using autologous femoral head grafts. Data collected included patient age, gender, tumor type, preoperative and postoperative visual analog scale (VAS) scores, Musculoskeletal Tumor Society (MSTS) scores, Harris Hip Scores (HHS), patient survival rates, postoperative tumor recurrence, and surgical complications. To analyze the data, we utilized various statistical methods, including descriptive statistics to summarize patient demographics and clinical characteristics, and paired sample t-tests to compare preoperative and postoperative scores. The study included 20 patients, and a total median follow-up was 83 months. Their pathologic diagnoses comprised 13 giant cell tumors (GCTs), 5 chondrosarcomas, one chondroblastoma, and 1 leiomyosarcoma. Postoperatively, the median differences in vertical and horizontal center of rotation (COR) were 3.8 and 4.0 mm. Median limb length discrepancy (LLD) postoperatively was 5.7 mm (range, 2.3-17.8 mm). Two patients (10%) experienced delayed wound healing, resolved with antibiotics and early surgical debridement. One patient experienced dislocation 3 months postoperatively, which was promptly addressed under general anesthesia without further dislocation. Through multiplanar osteotomy with limited margins, femoral head autograft, and uncemented total hip replacement for pelvic segmental bone defects in selected patients in type II or II + III appears to be an encouraging limb-sparing surgery worthy of consideration for carefully selected patients.

Edge De-epithelialization for Reducing Pharyngocutaneous Fistula in Patch Free Flap Reconstructions for Salvage Total Laryngectomy Defects: A Case-Control Study.

The leakage of saliva through the deep neck region from a pharyngocutaneous fistula could cause devastating complications, including vascular ruptures leading to mortality. While a partial pharyngoesophageal defect is created after total laryngectomy, a patch pattern of hypopharyngeal reconstruction is required, for which a fasciocutaneous free flap is usually applied. If radiotherapy fails to cure pharyngeal cancer, salvage total laryngectomy (STL) is needed. However, postradiation tissues tend not to heal well, and the incidence of pharyngocutaneous fistula therefore increases. We proposed an edge-epithelialization method to address this problem and conducted a retrospective study for comparison. The inclusion criteria were patients with head and neck cancer who underwent total laryngectomy that immediately required patch free flap reconstruction at a single medical center (January 2012-December 2021). Receipt of presurgical radiotherapy, hospitalization duration, and the presence of postoperative complications were recorded. The included patients were separated into two groups: Group A (edge de-epithelialization not adopted) (n=79) and Group B (edge de-epithelialization adopted) (n=51). Forty-four and twenty-two patients in Groups A and Group B, respectively, received preoperative radiotherapies and simultaneous STL and fasciocutaneous free flap reconstructions. The incidence of pharyngocutaneous fistula was significantly lower in Group B (p=0.0145). This phenomenon was the same for patients who underwent preoperative radiotherapy only (p=0.0470) but not for patients who did not receive preoperative radiotherapy (p=0.2363). Edge de-epithelialization is an effective method for reducing pharyngocutaneous fistula formation in patch free flap reconstructions after STLs.

Deviation parameters of intraoral scanning with and without artificial markers versus conventional impression of total, partial and congenital nasal defects: A pilot non-randomized clinical trial

PurposeThis pilot clinical trial aimed to investigate accuracy of intra-oral scanning (IOS) with and without artificial reference markers in capturing total, subtotal and congenital nasal defects. Basic proceduresThirteen patients with 3 types of nasal defects were selected and digitally scanned using an IOS with (ScM) and without artificial markers (Sc). Patients were grouped as follows; Group T (total nasal defect), Group P (partial/subtotal nasal defect), Group C (congenital defect). Silicone impressions of the defects were made and poured to get a model that was scanned using a Desktop scanner (Imp). The standard tessellation language (STL) files obtained from IOS were registered and compared to each other using a processing software. RMS, positive and negative average values were used to report deviations between the scans. Kruskal Wallis test was used to study the effect of defect type, while Friedmann was used to study the effect of impression technique. Results were considered significant at P≤.05. Main findingsAll deviation values showed statistically significant differences among the 3 studied nasal defects and among the 3 investigated impression techniques. The smallest deviation values were recorded in Sc-ScM of congenital defects (RMS= 0.13±0.04, +average=0.08±0.01, -average=-0.09±0.02), while the largest deviation values were recorded in IMP-Sc in the total defects (RMS= 0.38±0.05, +average=0.29±0.04, -average=-0.29±0.04). ConclusionsWithin the limitations of this study, it was concluded that the nasal defect type and the use of artificial markers during scanning affect the deviation parameters of the obtained scan. The combined effect of the studied parameters calls for the use of markers in when scanning total nasal defects.

Minimally Invasive Surgical Repair of Simple Congenital Heart Defects Using the Right Vertical Infra-Axillary Thoracotomy Approach.

To evaluate the safety and efficacy of surgical repair for patients diagnosed with simple congenital heart defects (CHD) using the minimally invasive right vertical infra-axillary minithoracotomy (RVIAT) approach. We retrospectively reviewed the clinical data of consecutive patients who underwent minimally invasive RVIAT for repair of CHD between August 2019 and August 2022. There were 382 patients who underwent 8 primary procedures and were included in this study. The median age of the patients was 16.2 (interquartile range [IQR], 7.2 to 41.9) months, and the median weight of the patients was 8.8 (IQR, 6.5 to 14) kg. The preoperative diagnoses were as follows: ventricular septal defect, atrial septal defect, partial anomalous pulmonary venous return, partial atrioventricular septal defect, cor triatriatum, complete atrioventricular septal defect, and myxoma. The mean aortic cross-clamp time, bypass time, and operation time were 45.4 ± 19.3 min, 65.6 ± 23.1 min, and 154.5 ± 29.7 min, respectively. There was no in-hospital mortality or conversion to median sternotomy. Two patients (0.5%) required early reoperation; 1 due to postoperative bleeding and 1 for permanent pacemaker implantation. Other complications included trivial residual shunts (23 of 382, 6%), pleural effusion (3 of 382, 0.8%), pneumothorax (0.8%), and wound infection (4 of 382, 1%). There were 2 late noncardiac deaths. Late reoperation was performed on 1 patient with progressive aortic valve regurgitation who required aortic valvuloplasty. RVIAT is a minimally invasive approach that can be safely performed on patients with simple CHDs. RVIAT may be a good alternative approach for median sternotomy and cardiac intervention.

Peculiarities of oral microbiota in patients with small and medium-sized dental defects and chronic periodontitis of moderate severity

BACKGROUND: Сhronic generalised periodontitis is one of the most widespread pathologies of the dento-mandibular system. To date, even if there is evidence of bacterial etiology, no biological markers have been developed to qualitatively assess the possibility of inflammation of periodontal tissues or its pathomorphosis to a more severe stage. AIMS: Study of peculiarities of oral microbiota in patients with acquired defects of dental rows in chronic generalised periodontitis of medium severity. MATERIALS AND METHODS: The study participants were 88 people with small/medium dental defects with no clinical signs of periodontal tissue inflammation (the first group) and chronic generalised periodontitis of medium severity (the second group). In order to assess the dental status, an index assessment of periodontal tissues and the intensity of tooth decay was carried out, and the degree of tooth mobility was determined. Using microbiological methods, biomaterial from the mucous membrane of the denture bed tissues was studied with determination of microorganisms composition. DNA of periodontal pathogens was detected and quantified by polymerase-chain reaction. Statistical analysis was performed using the Shapiro-Wilk criterion, t-criterion and χ2 criterion. RESULTS: The mean values of CFE and PMA indices in group 2 patients were 1.5 and 5.7 times higher, respectively, than in group 1. When analysing the composition of microorganisms in biological material from patients with chronic generalised periodontitis of moderate severity, Neisseria spp. were statistically significantly more common (p=0.002), Candida spp. (p=0.035), Enterobacterales (p=0.001), Enterococcus spp. (p=0.03) and statistically significantly lower Corynebacterium spp. (p=0.001) and S. salivarius (p=0.001). In the presence of partial defects of tooth rows in patients, the stated microorganisms formed persistent communities, the nature of symbiotic relations in which determined the clinical manifestations of inflammatory changes in the soft tissues of the periodontium. CONCLUSIONS: The increased incidence of Candida spp. and Enterobacterales in patients with acquired dental defects and periodontal soft tissue inflammation, as well as the formation of persistent relationships between them and antagonistic effects on oral autochthonous bacteria, is of interest for the development of targeted antimicrobial therapy in preparation for dental prosthetic treatment.

Partial Upper Lip Reconstruction Using Fujimori Flap: A Case Report

The Fujimori gate flap is known and used for the reconstruction of defects resulting from oncologic surgery. This case report describes the use of this flap to reconstruct the upper lip of a patient who had a defect following lip carcinoma, resulting in a loss of 2/3 of the upper lip tissue. The case involves a 34-year-old woman presenting a partial lip defect after upper lip carcinoma. She underwent a unilateral gate flap procedure, which allowed the authors to reconstruct the three levels of skin, muscle, and mucosa. Following surgery, no complications were observed. The patient was followed up at three months and a year later. She was able to speak and chew without any trouble after the flap restored oral competency. The patient’s treatment objectives, which included regaining oral competency and achieving an acceptable aesthetic result, were met thanks to the use of the Fujimori gate flap in this case. Compared to the use of other local, regional, or remote flaps, the flap also provides good color matching. The Fujimori flap ensures the restoration of the oral sphincter, in contrast to the typical flaps used to reconstruct the upper and lower lip, thereby promoting oral competence.

AC breakdown and decomposition products detection characteristics of eco-friendly insulating medium in gas insulated switchgear

Gas Insulated Switchgear (GIS) was a crucial electrical equipment that provides the safety and security of power systems, and finding the eco-friendly alternatives of sulphur hexafluoride (SF6) as insulating medium in GIS has been an urgent demand in past decades. However, few studies reported the specific dielectric strength under various electrodes and partial discharge (PD) decomposition products detection of applying the eco-friendly gas in GIS. In this paper, the insulation properties among C4F7N/CO2 mixtures, dry air and CO2 were explored under the reduced-scale gas-insulated experimental device. The relationship between AC breakdown voltage and gas pressure was gained under the different electrodes and gap distances, and 0.6 MPa 7% C4F7N/93% CO2, 0.9 MPa dry air, 0.9 MPa CO2 all possess the capacity to be the insulating medium in eco-friendly gas insulated switchgear. Furthermore, the partial discharge experimental was also carried out to realize the decomposition products detection of dry air, which designs three common defect types including metal protrusion defects, air gap defects, and metal contamination defects. The decomposition products detection result shows that the contains of CO2, CO, and NO2 linearly increase with the increasing applied voltages and times, and the partial discharge defects are distinguished according to the ratios of c(CO2 + CO)/c(NO2) and c(CO2)/c(CO). The results can provide the basis for the further development of eco-friendly gas insulated switchgear.

The spectrum of clinical, hormonal findings in children with congenital adrenal hyperplasia in Isfahan province; a 20-year review.

Congenital adrenal hyperplasia is an autosomal recessive disorder caused by complete or partial defects in one of the several steroidogenic enzymes involved in synthesizing of cortisol from cholesterol in the adrenal gland. Prompt and proper treatment of the disease would reduce symptoms and the level of androgens in patients. The present study aimed to evaluate the demographic characteristics and clinical findings of these patients. This retrospective investigation was conducted in 146 patients with congenital adrenal hyperplasia participated. Their clinical and paraclinical findings were accurately recorded in the file and extracted from the records. Among all 146 patients, 119(81.5 %) was 21-OH Deficiency type;11-OH Deficiency type was 13(8.9 %), 10(6.8 %) was 3β-HSD type, StAR was 2(1.4 %) and 17 alpha(α)-hydroxylase Deficiency was 2(1.4 %). The mean age of disease onset in these patients was 2.45±1.16 years. Macropenis was the most frequent clinical finding in 39 cases of 64 boys (60.9 %), and Clitoromgaly was the most clinical presentation in 40 cases of 82 girls (48.7 %). The levels of testosterone, dehydroepiandrosterone sulfate, and 17-OHP significantly decreased in the last visit compared to the initial diagnosis. Based on the clinical findings in every infant or child with ambiguous genitalia, macropenis, clitoromegaly, hirsutism, and premature pubarche, we should consider congenital adrenal hyperplasia. Prompt and proper treatment and disease control would reduce symptoms and the level of androgens in patients.

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype-phenotype correlation in patients with THD and candidate variants in DUOX2. A total of 31 (19.38%) patients from the Catalan Neonatal Screening Program presented with variants in DUOX2 that could explain their phenotype. Fifteen (48.39%) patients were compound heterozygous, 10 (32.26%) heterozygous, and 4 (12.90%) homozygous. In addition, 8 (26.67%) of these patients presented variants in other genes. A total of 35 variants were described, 10 (28.57%) of these variants have not been previously reported in literature. The most frequent variant in our cohort was c.2895_2898del/p.(Phe966SerfsTer29), classified as pathogenic according to reported functional studies. The final diagnosis of this cohort was permanent THD in 21 patients and transient THD in 10, according to reevaluation and/or need for treatment with levothyroxine. A clear genotype-phenotype correlation could not be identified; therefore, functional studies are necessary to confirm the pathogenicity of the variants.

Transformer partial discharge location technology based on gradient oil temperature

IntroductionThe traditional partial discharge localization improvement strategy mainly starts from the intelligent algorithm, but fails to consider the influence of core winding and oil temperature on partial discharge positioning.MethodsThis paper also considers the influence of the iron core winding and oil temperature. Through finite element simulation, a transformer model was established to analyze the propagation characteristics of ultrasonic signals generated by partial discharge under the interference of gradient oil temperature and winding. The chaotic firefly-particle swarm hybrid algorithm is proposed, and through the calculation of Shubert’s multi-peak function. Finally, a partial discharge defect platform based on gradient oil temperature was built to verify the chaotic firefly-particle swarm hybrid localization algorithm.ResultsThe ultrasonic velocity generated by partial discharge in transformers cannot be fixed, and it is suggested that ultrasonic sensors should be installed near the center of the top of the transformer. The proposed algorithm can be better optimized in the case of multiple local extreme points. Under gradient oil temperature experiments, the algorithm achieves positioning errors less than 100 and 55 mm for cases with and without winding obstruction, respectively, with average positioning errors of 74.2 and 35.2 mm.DiscussionThe positioning method in this paper can provide a technical reference for the partial discharge positioning of transformers in actual operation.

Fabrication of a definitive obturator for a patient with partial maxillectomy defect following post-covid mucormycosis: A case report

Mucormycosis was a rapidly progressing and life-threatening fungal infection. After surgery, we should anticipate seeing more individuals with orofacial abnormalities given the total number of cases and the orofacial region's primary involvement in the previous COVID-19 pandemic. Thus, in order to improve the quality of life for individuals suffering from mucormycosis, maxillofacial prosthetic rehabilitation is of paramount importance. Postoperative maxillary defects can be rehabilitated through surgical and prosthetic procedures. An obturator was utilized as a part of prosthetic management to facilitate efficient deglutition and articulation. It also provides support for the facial soft tissue to restore the midfacial contour in cases of palatal defects. This case report describes about the fabrication of a definitive palatal obturator for a patient with postsurgical maxillary defect wearing interim obturator made of polymethyl methacrylate (PMMA). Food impaction and irritation of the fitting surface over the tissue defect, resulting in erythema to the tissue surface and discomfort of using interim obturator. With the remaining teeth and tissues serving as support, the definitive obturator made of cobalt and chromium was made. With no degradation in the prosthesis, the follow-up showed satisfactory outcomes.

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Biallelic WARS2 pathogenic variants responsible for partial defect in aminoacylation, have recently been reported in subjects presenting with late-onset phenotypes combining dopa-responsive early-onset dystonia parkinsonism with altered DaTSCAN and progressive myoclonus ataxia. Here, we present the case of a 39-year-old male with childhood-onset progressive dopa-responsive dystonia parkinsonism, prominent psychiatric features and ataxia whose genome sequencing identified a p.(Arg36Ter) nonsense variant and a hypomorphic p.(Trp13Gly) missense variant, allowing the diagnosis of WARS2-related disease. The p.(Trp13Gly) missense variant has previously been reported in individuals with less severe phenotypes than those carrying biallelic WARS2 loss-of-function variants. Among these individuals, two subjects had similar genetic backgrounds and almost identical clinical history to our patient. Our report brings additional proof that the p.(Trp13Gly) variant acts as a hypomorphic allele, offering insight on a genotype-phenotype correlation in WARS2-related disorders.

Mid-term outcomes of minimally invasive surgery for partial atrioventricular septal defect in children

Objective: This study aims to describe the mid-term outcomes of minimally invasive surgery for partial atrioventricular septal defect in children. Summary: Partial atrioventricular septal defect is one of the three types of atrioventricular septal defect, accounting for about 3.5% of congenital heart disease. Traditionally, complete repair has been performed via sternotomy. However, with the advancement of minimally invasive surgical techniques in treating congenital heart conditions, we conducted this study to assess the feasibility and mid-term outcomes of this approach. Subjects and methods: This descriptive study spanned from January 2018 to December 2023, involving 30 patients diagnosed with partial atrioventricular septal defect who underwent minimally invasive complete repair. The cohort comprised 12 males and 18 females, with an average age of 18 months and average weight of 10.3 kg. The mean diameter of the primary atrial septal defect was 15 mm. Eight patients (26.7%) exhibited moderate to severe mitral regurgitation, and the average pulmonary artery pressure was 37 mmHg. Results: The average durations of cardiopulmonary bypass and aortic cross-clamp were 82 minutes and 58 minutes, respectively. None of the patients required sternotomy. The average time of artificial ventilator post-surgery was 6.9 hours, with a mean hospital stay of 7.6 days. Postoperative echocardiography showed promising results: complete closure of atrial septal defect, with 90% of patients having absent or mild mitral valve regurgitation, only 10% experienced moderate mitral valve regurgitation. The average follow-up period was 38 months, during which there were no postoperative fatalities. One patient required reoperation due to severe mitral regurgitation from an anterior cleft. Conclusion: Minimally invasive surgery for partial atrioventricular septal defect in children can be safely performed, yielding favorable mid-term outcomes during follow-up.

Early outcomes of minimal invasive surgery via the axillary approach for complex congenital heart disease at the Cardiovascular Center - E hospital

Objective: This study aims to outline the initial outcomes of implementing minimally invasive surgery via the right axillary approach to completely repair complex congenital heart diseases. Summary: Minimally invasive surgical techniques have gained widespread adoption in managing simple congenital heart diseases such as atrial septal defect, ventricular septal defect, partial atrioventricular septal defect, cor triatriatum, and partial anomalous pulmonary venous return. Postoperative results have demonstrated equivalence, if not superiority, to traditional sternotomy procedures while offering enhanced cosmetic benefits. However, for more intricate congenital heart conditions such as tetralogy of Fallot (TOF), complete atrioventricular septal defect (CAVSD), and Ebstein syndrome, this study evaluates the early outcomes of employing minimally invasive surgery via the right axillary approach, a technique that remains relatively uncommon globally. Our study seeks to assess the initial outcomes of this approach in managing complex congenital heart diseases. Subjects and methods: descriptive method based on a series of cases. From April 2023 to December 2023, 45 patients diagnosed with complex congenital heart disease underwent minimally invasive surgery utilizing the axillary approach. This cohort comprised 40 patients with tetralogy of Fallot, 3 patients with complete atrioventricular septal defect, and 2 patients with Ebstein syndrome. Results: All procedures were technically successful, without requiring sternotomy. The cardiopulmonary bypass times for the TOF, complete AVSD, and Ebstein syndrome groups were 81 minutes, 91 minutes, 96 minutes, respectively. Corresponding aortic cross - clamp times were 70 minutes, 72 minutes, and 74 minutes. There were no postoperative fatalities or significant complications. Postoperative echocardiographic evaluations demonstrated favorable outcomes. Conclusion: Minimally invasive surgery via the axillary approach for managing complex congenital heart diseases yields promising early results and offers notable cosmetic advantages.