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1.
BMC Surg ; 24(1): 230, 2024 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-39135196

RESUMO

AIM: This study aims to compare the clinical and radiographic outcomes after complete versus incomplete removal of granulation tissue (GT) during modified minimally invasive surgical technique (M-MIST) for management of periodontitis patients with deep pockets associated with infra-bony defects. METHODOLOGY: Ten patients with a total of 14 deep non-resolving pockets (≥ 5 mm) associated with a vertical infra-bony defect were recruited for this study. They were randomized into 2 groups; a test group with incomplete removal of GT and a control group with complete removal of GT. Clinical parameters of clinical attachment level (CAL), residual probing depth (rPD) and buccal recession (Rec.) were recorded every 3 months. Radiographic periapicals were taken at baseline, 6 and 9 months. The significance level was set to 0.05. RESULTS: None of the results showed statistical significance between the 2 groups (p > 0.05). The test group showed less CAL gain (2 ± 0.87 mm, p = 0.062), more reduction in rPD (3.1 ± 0.96 mm, p = 0.017) and more recession (0.857 ± 0.26 mm, p = 0.017) than control group CAL gain (2.4 ± 0.58 mm, p = 0.009), rPD reduction (2.9 ± 0.3 mm, p = 0.001) and recession (0.5 ± 0.34 mm, p = 0.203) respectively. Control group had linear reduction in depth defect (DD) (0.68 ± 0.287, p = 0.064) compared to an increase in DD in test group (-0.59 ± 0.5, p = 0.914). CONCLUSIONS: No statistical significance were observed in healing parameters between complete removal of GT in M-MIST and incomplete (partial) removal of GT of deep pockets with infra-bony defects both clinically and radiographically. Further studies with larger samples are needed to confirm the results.


Assuntos
Tecido de Granulação , Procedimentos Cirúrgicos Minimamente Invasivos , Humanos , Masculino , Feminino , Tecido de Granulação/cirurgia , Tecido de Granulação/patologia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Pessoa de Meia-Idade , Adulto , Resultado do Tratamento , Perda do Osso Alveolar/cirurgia , Bolsa Periodontal/cirurgia
2.
Ann Pediatr Cardiol ; 17(2): 101-108, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39184123

RESUMO

Introduction: The study aims to assess the procedural outcomes and follow-up after transcatheter closure of ventricular septal defects (VSDs) in children utilizing the Konar-MF™ occluder (Lifetech Scientific, Shenzhen, PRC) device. Materials and Methods: Clinical features, demographic characteristics, and follow-up findings of children undergoing percutaneous VSD device closure were retrospectively analyzed from the medical records. Results: Fifty-seven patients underwent VSD closure using the Konar-MF occluder between January 2019 and April 2023. Median age and body weight of patients were 36 (5-216) months and 12.5 (3.8-42) kg, respectively. The mean size of the defect on the left ventricular side was 6.5 ± 2.4 mm on echocardiography; the mean pulmonary artery pressure was 19.1 ± 9.7 mmHg. Three patients with severe pulmonary hypertension had successful device closure. The most used device size was 8 mm × 6 mm. The initially chosen device was upsized in 4 (7.01%) patients and downsized in 1 (1.7%) patient. Forty-five patients (78.9%) had device closure through the retrograde route. The procedure was successful in 53 (93.0%) patients. Immediate shunt occlusion was achieved in 86.8% of patients. Major complications, namely, embolization (1) and moderate aortic regurgitation (1) in two patients were successfully managed by surgery. One patient with severe tricuspid regurgitation has been on close follow-up. There was no mortality. Late complications such as valve regurgitation or rhythm disturbance were not identified on a median follow-up of 6 (1.5-47) months. Conclusion: Transcatheter VSD closure using a Konar-MF occluder device is safe and effective, even in smaller children. The ability to deliver both anterogradely and retrogradely is a unique advantage.

3.
Artigo em Inglês | MEDLINE | ID: mdl-39181793

RESUMO

This article discusses different options and best practices for sample types and sample collection devices for downstream genotyping in today's sophisticated animal husbandry systems. Best practices for sample collection, shipping, and submission of samples are shown and an overview of techniques for laboratory analysis is provided. The ultimate goal is to facilitate the generation of useful and meaningful results for the client.

4.
Res Sq ; 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-39108474

RESUMO

Composite cranial defects have individual functional and aesthetic ramifications, as well as societal burden, while posing significant challenges for reconstructive surgeons. Single-stage composite reconstruction of these deformities entail complex surgeries that bear many short- and long-term risks and complications. Current research on composite scalp-cranial defects is sparse and one-dimensional, often focusing solely on bone or skin. Thus, there is an unmet need for a simple, clinically relevant composite defect model in rodents, where there is a challenge in averting healing of the skin component via secondary intention. By utilizing a customizable (3D-printed) wound obturator, the scalp wound can be rendered non-healing for a long period (more than 6 weeks), with the cranial defect patent. The wound obturator shows minimal biotoxicity and will not cause severe endocranium-granulation adhesion. This composite defect model effectively slowed the scalp healing process and preserved the cranial defect, embodying the characteristics of a "chronic composite defect". In parallel, an autologous reconstruction model was established as the positive control. This positive control exhibited reproducible healing of the skin within 3 weeks with variable degrees of osseointegration, consistent with clinical practice. Both models provide a stable platform for subsequent research not only for composite tissue engineering and scaffold design but also for mechanistic studies of composite tissue healing.

5.
Expert Opin Pharmacother ; 25(11): 1525-1540, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39109526

RESUMO

INTRODUCTION: Randomized clinical trials (RCTs) have suggested that BTK inhibitors (BTKis) might increase infectious disease (ID) risk. Systematic analysis of this topic as derived from RCTs and clinical practice is needed. AREAS COVERED: An extensive Medline, Embase, and Cochrane search of peer-reviewed sources reporting on ID morbidity in patients on BTKis was performed (1 January 2014 - 31 December 2013). Contribution of intrinsic immune defects in indolent B-cell lymphomas to this morbidity was carefully considered. EXPERT OPINION: Patients with indolent B-cell lymphomas display a wide range of innate and adaptive immune defects. In addition, BTKi use is linked with an increased signal of upper respiratory tract infections (URTIs) and pneumonias, mainly grade 1-2. These agents also increase the risk of rare invasive fungal infections (IFIs), mainly due to Cryptococcus and Aspergillus spp. with a peak within several months after the start of therapy. More than half of these IFIs are fatal. Research suggests a similar ID risk across 1st, 2nd and 3rd generations of BTKis, all causing B-cell dysfunction due to BTK inhibition, along with off-target functional neutrophil/macrophage alterations. Expanding the knowledge base on ID morbidity in patients on BTKis would facilitate timely diagnosis and treatment, and improve clinical outcomes.


Assuntos
Tirosina Quinase da Agamaglobulinemia , Linfoma de Células B , Inibidores de Proteínas Quinases , Humanos , Tirosina Quinase da Agamaglobulinemia/antagonistas & inibidores , Linfoma de Células B/tratamento farmacológico , Inibidores de Proteínas Quinases/efeitos adversos , Inibidores de Proteínas Quinases/uso terapêutico , Ensaios Clínicos Controlados Aleatórios como Assunto , Antineoplásicos/efeitos adversos , Antineoplásicos/uso terapêutico
6.
Sci Rep ; 14(1): 19864, 2024 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-39191831

RESUMO

Printed Circuit Boards (PCBs) are the foundational component of electronic devices, and the detection of PCB defects is essential for ensuring the quality control of electronic products. Aiming at the problem that the existing PCB plug-in solder defect detection algorithms cannot meet the requirements of high precision, low false alarm rate, and high speed at the same time, this paper proposes a method based on spatial convolution pooling and information fusion. Firstly, on the basis of YOLOv3, an attention-guided pyramid structure is used to fuse context information, and multiple convolutions of different size are used to explore richer high-level semantic information; Secondly, a coordinated attention network structure is introduced to calibrate the fused pyramidal feature information, highlighting the important feature channels, and reducing the adverse impact of redundant parameters generated by feature fusion; Finally, the ASPP (Atrous Spatial Pyramid Pooling) structure is implemented in the original Darknet53 backbone feature extraction network to acquire multi-scale feature information of the detection targets. With these improvements, the average detection accuracy of the enhanced network has been elevated from 94.45 to 96.43%. This experiments shows that the improved network is more suitable for PCB plug-in solder defect detection applications.

7.
Artigo em Inglês | MEDLINE | ID: mdl-39189127

RESUMO

PURPOSE: The purpose of this study is to assess the association between sagittal tibial tuberosity-trochlear groove (sTT-TG) distance and patellofemoral chondral lesion size in patients undergoing cartilage restoration procedures. METHODS: A retrospective cohort analysis of patients who underwent an osteochondral allograft transplantation or matrix-induced autologous chondrocyte implantation in the patellofemoral compartment, from 2010 to 2020, were included if they had patellofemoral high-grade lesions, magnetic resonance imaging (MRI) and minimum 2-year follow-up. The preoperative sTT-TG distance was measured independently on axial T2-weighted MRI sequences by two authors, each at least two weeks apart. Intraoperative lesion size was reported according to operative report measurements by the attending surgeon. An interclass correlation coefficient (ICC) was calculated to assess intra- and inter-rater reliability, and categorical data analysis and linear regression models were used to assess the relationship between sTT-TG and lesion size. RESULTS: A total of 80 patients (50 females) with a mean age of 31.5 ± 10.4 years, body mass index of 27.0 ± 5.9 kg/m2 and follow-up of 61.5 ± 21.4 months were included. A total of 107 lesions were present: 63 patients with unipolar (patella = 41, trochlea = 22) and 22 with bipolar lesions. The mean MRI defect size was 1.6 ± 1.0 cm2 and the mean intraoperative defect size was 3.8 ± 2.4cm2. Intra- (ICC: 0.99,0.98) and inter-rater reliability (ICC: 0.96) were excellent for both MRI defect size and sTT-TG measurements. The mean sTT-TG was -4.8 ± 4.9 mm and was significantly inversely related to MRI defect size (-0.45, p < 0.01), intraoperative patellar lesion size (-0.32, p = 0.01), total lesion area (-0.22, p = 0.04), but not trochlear lesion size (-0.09, p = 0.56). Multivariable regression demonstrated a more negative sTT-TG remained an independent variable correlated with larger MRI-measured patellofemoral defect sizes and intraoperative patellar lesions. CONCLUSION: A more negative sTT-TG was an independent variable correlated with larger patellofemoral lesions in patients undergoing patellofemoral cartilage restoration. LEVEL OF EVIDENCE: Level III, Diagnostic.

8.
Proc (Bayl Univ Med Cent) ; 37(5): 862-865, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39165818

RESUMO

To date, no significant association has been reported between atrial septal defects (ASD) and cardiac myxomas. This study reports a 56-year-old woman with cardiac myxoma following transcatheter closure of ASD. She presented with a 3-month history of recurrent dizziness, vertigo, palpitations, and generalized weakness after undergoing ASD occlusion a year earlier. Echocardiography and cardiac computed tomography scans identified a large, mobile mass (7.2 cm × 2.8 cm) in the left atrium, protruding through the mitral valve. The patient underwent median sternotomy and pericardiotomy, and the histopathological examination confirmed the diagnosis of atrial myxoma. The current case illustrates the challenges in determining whether an atrial mass is a benign myxoma or a dangerous thrombus. While there is no definitive link between the implantation of an ASD closure device and the formation of a myxoma, the emergence of this tumor is a potential occurrence.

9.
Artigo em Inglês | MEDLINE | ID: mdl-39166760

RESUMO

OBJECTIVES: Collagen membranes are extensively used for guided bone regeneration procedures, primarily for horizontal bone augmentation. More recently, it has been demonstrated that collagen membranes promote bone regeneration. Present study aimed at assessing if structural modifications of collagen membranes may enhance their osteoconductive capacity. METHODS: Twenty-four adult Wistar rats were used. Bilateral calvaria defects with a diameter of 5 mm were prepared and covered with prototypes of collagen membranes (P1 or P2). The P1 membrane (positive control) presented a lower onset temperature of protein denaturation and a higher solubility than the P2 membrane (test). The contralateral defects were left uncovered (NC). After 1 and 4 weeks, the animals were euthanized. A microcomputed tomography analysis of the harvested samples was performed within and above the bony defect. Undecalcified ground sections were subjected to light microscopy and morphometric analysis. RESULTS: Bone formation was observed starting from the circumferential borders of the defects in all groups at 1-week of healing. The foci of ossification were observed at the periosteal and dura mater sites, with signs of collagen membrane mineralization. However, there was no statistically significant difference between the groups. At 4 weeks, remnants of the collagen fibers were embedded in the newly formed bone. In the P2 group, significantly more bone volume, more new bone, and marrow spaces compared to the NC group were observed. Furthermore, the P2 group showed more bone volume ectocranially then the P1 group. CONCLUSIONS: Bone formation subjacent to a P2 membrane was superior than subjacent to the P1 membrane and significantly better compared to the control. Modifications of the physico-chemical properties may enhance the osteoconductive competence of collagen membranes, supporting bone formation outside the bony defects.

10.
ACS Nano ; 2024 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-39167730

RESUMO

Regulating the coordination environment of Fe-Nx sites is an efficient but challenging approach for promoting the intrinsic catalytic activity of single-atom Fe/N-codoped carbon (Fe-N-C) toward the oxygen reduction reaction (ORR). Herein, low-coordination Fe-N3 sites coupled with carbon vacancies (Fe-N3/CV) are directionally constructed in Fe-N-C via pyrolysis of a metal-organic framework (MOF) precursor with N3-Zn-O-Fe moieties, which are delicately prefabricated by chemically anchoring Fe3+ onto a H2O-etching induced linker-missing Zn-N3 site in the MOF precursor. The optimized Fe-N-C with the Fe-N3/CV sites displays a high ORR half-wave potential of 0.92 V (vs RHE), which is attributed to the optimized electronic structure and binding strengths of the active Fe center toward the ORR intermediates stemming from the synergy of the asymmetric configuration of Fe-N3 as well as the adjacent carbon vacancies. This work could be enlightening for the design and construction of high-activity coupling sites in metal and nitrogen-codoped carbon catalysts.

11.
ACS Nano ; 18(33): 22533-22547, 2024 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-39115190

RESUMO

Organic-inorganic hybrid metal halide perovskite solar cells have been considered as one of the most promising next-generation photovoltaic technologies. Nevertheless, perovskite defects and Li+ ionic migration will seriously affect the power conversion efficiency and stability of the formal device. Herein, we designed two crown ether derivatives (PC12 and PC15) with different cavity diameters, which selectively bind to different metal cations. It is found that PC15 in perovskite precursor solution can actively regulate the nucleation and crystallization processes and passivate the uncoordinated Pb2+ ions, while PC12 at the interface between the perovskite layer and hole-transporting layer can effectively inhibit the migration of Li+ ions and reduce nonradiative recombination losses. Therefore, PC12 and PC15 can act as "lubricant" and defect passivators, as well as inhibitors of ion migration, when they are synergistically applied at the surface and bulk of perovskite layer. Consequently, the optimized device achieved a champion efficiency of 24.8% with significantly improved humidity, thermal, and light stability.

12.
J Med Case Rep ; 18(1): 387, 2024 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-39153999

RESUMO

BACKGROUND: Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects. Concurrent presence of cleft in mitral valve leaflet with atrial septal defect and ventricular septal defect is relatively rare. Echocardiography, especially transesophageal echocardiography, is essential in diagnosing cleft mitral valve leaflet and related congenital heart defects, providing critical, detailed imagery for accurate assessment. This study presents a young female patient whose anterior mitral cleft, along with atrial septal defect and ventricular septal defect, was revealed through three-dimensional transesophageal echocardiography. CASE PRESENTATION: A 25-year-old Iranian female, experiencing progressive dyspnea and diminished physical capacity over 3 months, was referred to our hospital. Initial examination and transthoracic echocardiography indicated severe mitral regurgitation. Further evaluation with transesophageal echocardiography corroborated these findings and identified a cleft in the anterior mitral valve leaflet, coupled with mild left ventricular enlargement and significant left atrial enlargement. The complexity of the patient's condition was heightened by the diagnosis of cleft mitral valve leaflet in conjunction with atrial septal defect and ventricular septal defect, showing the complex nature of congenital defects. CONCLUSION: This case emphasizes the critical role of transthoracic echocardiography in diagnosing cleft of mitral valve leaflet and associated cardiac anomalies, showcasing its superiority over transthoracic echocardiography for detailed visualization of cardiac structures. The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. Future research should aim to refine diagnostic methodologies to enhance patient outcomes for cleft of mitral valve leaflets and related congenital conditions.


Assuntos
Ecocardiografia Tridimensional , Ecocardiografia Transesofagiana , Comunicação Interatrial , Comunicação Interventricular , Insuficiência da Valva Mitral , Valva Mitral , Humanos , Feminino , Ecocardiografia Transesofagiana/métodos , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/complicações , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/complicações , Adulto , Ecocardiografia Tridimensional/métodos , Insuficiência da Valva Mitral/diagnóstico por imagem , Valva Mitral/diagnóstico por imagem , Valva Mitral/anormalidades
14.
J Cardiol Cases ; 30(2): 31-34, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39156213

RESUMO

An 82-year-old man with a secundum atrial septal defect (ASD) underwent transcatheter closure. The patient had a wide area of aortic and superior rim deficiency, with left ventricular diastolic dysfunction and moderate mitral regurgitation. These findings suggested the risk of both cardiac erosion and increased left atrial pressure after closure. To avoid cardiac erosion, a GORE® CARDIOFORM ASD (GCA) occluder (W.L. Gore & Associates, Flagstaff, AZ, USA) was considered an appropriate device in this patient. However, the possibility of excessively high left atrial pressure due to complete defect closure was a concern. Thus, we created a 4.5-mm fenestration using a surgical punch in the fabric membrane of a 44-mm GCA. The device was deployed in an appropriate position, and no significant elevation of pulmonary capillary wedge pressure was observed. One month after the closure, marked improvement in clinical symptoms and continuous flow through the fenestration were observed. This novel fenestration technique may contribute to expansion of the indications for transcatheter ASD closure in patients who require a GCA owing to an anatomically high risk of erosion accompanied by left ventricular diastolic dysfunction. Learning objective: In elderly patients with left ventricular diastolic dysfunction, transcatheter atrial septal defect (ASD) closure is difficult because rapid resolution of an ASD shunt can cause an increase in left atrial pressure. Previous reports described the creation of a fenestration in the closure device. The use of a GORE® CARDIOFORM ASD (GCA) occluder can reduce the erosion risk; however, creating a stable fenestration is difficult. We developed a novel technique to create a stable fenestration in a GCA.

15.
Cureus ; 16(7): e64876, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39156369

RESUMO

Cardiac masses pose significant diagnostic and therapeutic challenges in clinical practice. A 73-year-old male with a history of atrial fibrillation and percutaneous atrial septal defect (ASD) closure presented with an asymptomatic right atrial mass detected during routine transthoracic echocardiography follow-up. The mass measured 17 mm, with highly echoic peripheral areas and a heterogenous, low-echoic interior. The patient was asymptomatic and had no fever, embolic, or neurological symptoms. Multimodal imaging, including contrast-enhanced computed tomography, magnetic resonance imaging, and transesophageal echocardiography, revealed a mobile nodular mass in the right atrium (RA); however, the results of each modality were not consistently suggestive of a specific disease. The presumptive diagnosis of thrombus was made based on the change and variability of echocardiographic findings over time and the response to antithrombotic medications. Anticoagulant therapy with edoxaban led to the complete resolution of the mass, confirming the diagnosis of a thrombus. This case highlights the importance of multimodal imaging and temporal changes in findings in the diagnosis and management of RA masses and underscores the need for careful thrombotic risk assessment in patients with a history of atrial fibrillation, ASD, and cardiac procedures.

16.
Cureus ; 16(7): e64915, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39156437

RESUMO

Polydactyly, which is the presence of an extra appendage on the hand or the foot, is a common congenital anomaly encountered in children. It may be an isolated finding or found in conjunction with other congenital anomalies and syndromes. Polydactyly can occur in the hands or the feet. In the hand, it may occur as radial polydactyly (pre-axial polydactyly) or ulnar polydactyly (post-axial polydactyly (PAP)). Depending upon the side of occurrence, it may be medial, that is, toward the little finger (called ulnar polydactyly) or lateral, that is, toward the thumb (called radial polydactyly). On the feet, the extra digit can either be present on the side of the great toe (called tibial polydactyly) or on the side of the little toe (called fibular polydactyly). In both the upper and the lower limbs, affection of the central three digits is called central polydactyly. Central tetrapolydactyly, which is the presence of an extra appendage on all four limbs, is much more rarely encountered. This case report describes a 15-month-old female child who presented with findings of six digits on all four limbs and deviation of the left angle of mouth since birth. Her echocardiography showed a large atrial septal defect measuring 7 mm, with a left-to-right shunt. This is the first such case reported from all over the world from a tertiary care hospital with the aforementioned findings. Polydactyly, a very common congenital anomaly, should not be ignored in pediatric settings. It is important to diagnose associated features such as congenital heart diseases (CHDs), genitourinary abnormalities, and orofacial abnormalities to facilitate timely surgical correction and help improve the quality of life of those affected.

17.
Adv Sci (Weinh) ; : e2407294, 2024 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-39159137

RESUMO

Single-atom catalysts (SACs) with edge-located metal active sites exhibit superior oxygen reduction reaction (ORR) performance due to their narrower energy gap and higher electron density. However, controllably designing such active sites to fully reveal their advantages remains challenging. Herein, rich edge-located Fe-N4 active sites anchored in hierarchically porous carbon nanofibers (denoted as e1-Fe-N-C) are fabricated via an in situ zinc-assisted thermal etching strategy. The e1-Fe-N-C catalyst demonstrates superior alkaline ORR activity compared to counterparts with fewer edge-located Fe-N4 sites and commercial Pt/C. Density functional theory calculations show that the accumulation of more negative charges near the Fe-N and the formation of partially reduced Fe state in the edge-located Fe-N4 sites reduce the energy barrier for the ORR process. Additionally, the unique hierarchically porous structures with mesopores and macropores facilitate full utilization of the active sites and enhance long-range mass transfer. The zinc-air battery (ZAB) assembled with e1-Fe-N-C has a peak power density of 198.9 mW cm-2, superior to commercial Pt/C (152.3 mW cm-2). The present strategy by facile controlling the amount of the zinc acetate template systematically demonstrates the superiority of edge-located Fe-N4 sites, providing a new design avenue for rational defect engineering to achieve high-performance ORR.

18.
Adv Sci (Weinh) ; : e2405187, 2024 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-39159133

RESUMO

Defect engineering is a key chemical tool to modulate the electronic structure and reactivity of nanostructured catalysts. Here, it is reported how targeted introduction of defect sites in a 2D palladium metallene nanostructure results in a highly active catalyst for the alkaline oxygen reduction reaction (ORR). A defect-rich WOx and MoOx modified Pd metallene (denoted: D-Pd M) is synthesized by a facile and scalable approach. Detailed structural analyses reveal the presence of three distinct atomic-level defects, that are pores, concave surfaces, and surface-anchored individual WOx and MoOx sites. Mechanistic studies reveal that these defects result in excellent catalytic ORR activity (half-wave potential 0.93 V vs. RHE, mass activity 1.3 A mgPd-1 at 0.9 V vs. RHE), outperforming the commercial references Pt/C and Pd/C by factors of ≈7 and ≈4, respectively. The practical usage of the compound is demonstrated by integration into a custom-built Zn-air battery. At low D-Pd M loading (26 µgPd cm-2), the system achieves high specific capacity (809 mAh gZn -1) and shows excellent discharge potential stability. This study therefore provides a blueprint for the molecular design of defect sites in 2D metallene nanostructures for advanced energy technology applications.

19.
Orphanet J Rare Dis ; 19(1): 301, 2024 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-39152504

RESUMO

BACKGROUND: Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and more rare cases. It is noteworthy that most cases of various microdeletions are characterized by phenotypic signs of neuropsychological developmental disorders, which, however, have a different genetic origin. The localization of the microdeletions, the genes included in the region, as well as the structural features of the sequences of these genes have a cumulative influence on the phenotypic characteristics of the individuals for each specific case and the severity of the manifestations of disorders. The consideration of these features and their detailed analysis is important for a correct and comprehensive assessment of the disease. RESULTS: The article describes a clinical case of 7p22.3 microdeletion in a patient with congenital heart defect and neurological abnormalities - epilepsy, combined with moderate mental and motor developmental delay. CONCLUSIONS: Through detailed genetic analyses, we are improving the clinical description of the rare 7p22.3 microdeletion and thus creating a basis for future genetic counseling and research into targeted therapies.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 7 , Epilepsia , Cardiopatias Congênitas , Feminino , Humanos , Masculino , Cromossomos Humanos Par 7/genética , Deficiências do Desenvolvimento/genética , Epilepsia/genética , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Transtornos do Neurodesenvolvimento/genética , Lactente , Linhagem
20.
Clin Genet ; 2024 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-39155385

RESUMO

All reported ABL1 gain of function and loss of function (LOF) variants, impact both isoforms 1a and 1b. Our findings suggest that LOF variants affecting solely ABL1 isoform 1b may lead to a distinct autosomal recessive new phenotype.

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