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1.
Am J Med Genet A ; : e63900, 2024 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-39360520

RESUMEN

Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever-induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10-year-old male with recurrent episodes of acute flaccid paralysis involving upper and lower extremities in association with bulbar muscle weakness in the context of febrile illness, a phenotype reminiscent of recurrent periodic paralysis. The episodes started at the age of 3 years and have always been followed by full recovery within 1-2 weeks with no residual weakness. Whole exome sequencing revealed a homozygous c.2132C > T, p.(Pro711Leu) variant in HADHA. The variant leads to mildly reduced long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) and long-chain ketoacyl-CoA thiolase (LCKAT) enzyme activities and reduced MTP protein expression in patient's fibroblasts when cultured at 37°C. Enzyme activities and MTP protein expression diminished when fibroblasts were cultured at 40°C. This is the first published report of confirmed recurrent periodic paralysis as a manifestation of a thermosensitive form of MTP deficiency, and it calls for this condition to be considered when evaluating patients with recurrent periodic paralysis given therapeutic implications.

2.
Foot Ankle Orthop ; 9(3): 24730114241264557, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39280930

RESUMEN

Background: Both an open cheilectomy with a Moberg osteotomy and percutaneous cheilectomy have been successfully used to treat hallux rigidus and preserve motion.However, there have been no studies that have compared these 2 procedures using validated patient-reported outcomes such as the Patient Reported Outcome Measurement Information System. Methods: A retrospective review of hallux rigidus patients between January 2016 and July 2021 collected 48 percutaneous cheilectomy (PC) patients and 71 open cheilectomy with Moberg (OCM) patients. Preoperative and minimum 1-year postoperative PROMIS scores were collected. Results: The OCM and PC cohorts did not have significant differences in their postoperative PROMIS scores. Both cohorts had modest but significant improvements postoperatively in the physical function, pain interference, and pain intensity domains. The OCM group had a larger degree of improvement in physical function, pain interference, and pain intensity (P = .015, .011, .001, respectively). No significant difference was identified in the reoperation rate. Conclusion: Patients undergoing an OCM had worse preoperative PROMIS scores and a modestly greater change in patient-reported outcomes than patients undergoing a PC. Level of Evidence: Level III, retrospective review.

3.
Sci Rep ; 14(1): 17857, 2024 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-39090207

RESUMEN

Members of the Metal Tolerance Protein (MTP) family are critical in mediating the transport and tolerance of divalent metal cations. Despite their significance, the understanding of MTP genes in mustard (Brassica juncea) remains limited, especially regarding their response to heavy metal (HM) stress. In our study, we identified MTP gene sets in Brassica rapa (17 genes), Brassica nigra (18 genes), and B. juncea (33 genes) using the HMMER (Cation_efflux; PF01545) and BLAST analysis. For the 33 BjMTPs, a comprehensive bioinformatics analysis covering the physicochemical properties, phylogenetic relationships, conserved motifs, protein structures, collinearity, spatiotemporal RNA-seq expression, GO enrichment, and expression profiling under six HM stresses (Mn2+, Fe2+, Zn2+, Cd2+, Sb3+, and Pb2+) were carried out. According to the findings of physicochemical characteristics, phylogenetic tree, and collinearity, the allopolyploid B. juncea's MTP genes were inherited from its progenitors, B. rapa and B. nigra, with minimal gene loss during polyploidization. Members of the BjMTP family exhibited conserved motifs, promoter elements, and expression patterns across subgroups, consistent with the seven evolutionary branches (G1, G4-G9, and G12) of the MTPs. Further, spatiotemporal expression profiling under HM stresses successfully identified specific genes and crucial cis-regulatory elements associated with the response of BjMTPs to HM stresses. These findings may contribute to the genetic improvement of B. juncea for enhanced HM tolerance, facilitating the remediation of HM-contaminated areas.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Metales Pesados , Planta de la Mostaza , Filogenia , Proteínas de Plantas , Estrés Fisiológico , Planta de la Mostaza/genética , Metales Pesados/toxicidad , Regulación de la Expresión Génica de las Plantas/efectos de los fármacos , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Estrés Fisiológico/genética , Perfilación de la Expresión Génica , Biología Computacional/métodos
4.
J Plant Res ; 137(5): 939-950, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39069582

RESUMEN

Zinc (Zn) is an essential element for plants. Numerous proteins in different cellular compartments require Zn for their structure and function. Zn can be toxic when it accumulates in high levels in the cytoplasm. Therefore, Zn homeostasis at tissue, cell, and organelle levels is vital for plant growth. A part of the metal tolerance protein (MTP) / Cation Diffusion Facilitator (CDF) transporters functions as Zn transporters, exporting Zn from the cytosol to various membrane compartments. In Arabidopsis thaliana, MTP1, MTP2, MTP3, MTP4, MTP5, and MTP12 are classified as Zn transporters (Zn-CDF). In this study, we systematically analyzed the localization of GFP-fused Zn-CDFs in the leaf epidermal cells of Nicotiana benthamiana. As previously reported, MTP1 and MTP3 were localized to tonoplast, MTP2 to endoplasmic reticulum, and MTP5 to Golgi. In addition, we identified the localization of MTP4 to trans-Golgi Network (TGN). Since MTP4 is specifically expressed in pollen, we analyzed the localization of MTP4-GFP in the Arabidopsis pollen tubes and confirmed that it is in the TGN. We also showed the Zn transport capability of MTP4 in yeast cells. We then analyzed the phenotype of an mtp4 T-DNA insertion mutant under both limited and excess Zn conditions. We found that their growth and fertility were not largely different from the wild-type. Our study has paved the way for investigating the possible roles of MTP4 in metallating proteins in the secretory pathway or in exporting excess Zn through exocytosis. In addition, our system of GFP-fused MTPs will help study the mechanisms for targeting transporters to specific membrane compartments.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Tubo Polínico , Red trans-Golgi , Arabidopsis/genética , Arabidopsis/metabolismo , Arabidopsis/crecimiento & desarrollo , Red trans-Golgi/metabolismo , Proteínas de Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Tubo Polínico/crecimiento & desarrollo , Tubo Polínico/metabolismo , Tubo Polínico/genética , Zinc/metabolismo , Proteínas de Transporte de Catión/metabolismo , Proteínas de Transporte de Catión/genética , Nicotiana/genética , Nicotiana/metabolismo
5.
Foot Ankle Int ; : 10711007241264239, 2024 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-39075767

RESUMEN

BACKGROUND: Sesamoid pathology can lead to significant pain and disability both with activities of daily living and high-impact athletic movements. Sesamoidectomy is a widely used procedure for patients who fail conservative treatment measures. Traditional dorsal or plantar approaches for sesamoidectomy have shown to successfully alleviate pain, but complications were reported. A proposed alternative medial approach using a burr may provide many advantages compared with traditional approaches. This study presents patient outcomes and complications for this technique. METHODS: This was a retrospective chart review of patients undergoing sesamoidectomy (tibial, peroneal, or both) using a burr through a medial approach to the sesamoid metatarsal articulation. Data collected included patient demographics, radiographic analysis, and outcomes: Veterans Rand 12 Item Health Survey (VR-12), Foot and Ankle Ability Measure (FAAM), visual analog scale (VAS), patient satisfaction, and complications. RESULTS: Twenty-seven patients (29 feet) were included. The mean age was 38.4 years followed up for a mean of 30.9 months. VR-12 physical component improved from 35.98 ± 7.86 to 51.34 ± 8.01 (P < .001), FAAM ADL and sport improved from 58.33 ± 16.61 to 83.27 ± 18.28 (P < .001) and 26.37 ± 20.31 to 63.75 ± 29.74 (P < .001), respectively. Patient satisfaction with the treatment was 80.59% ± 27.06%. The overall complication rate was 11 (37.9%) whereas the overall reoperation rate was 4 (13.7%) of 29 feet. Complications included 1 arthrofibrosis, 1 flexor hallucis longus subacute rupture, and 1 asymptomatic hallux valgus. There were no sesamoid excision revisions. CONCLUSION: Sesamoidectomy using a medial approach with a burr provided significantly improved short-term functional outcomes, 80% patient satisfaction rate, with a relatively acceptable complications rate including 20% persistent pain. The medial approach is familiar to orthopaedic foot and ankle surgeons, provides adequate exposure, and eliminates the possibility of a painful plantar scar while avoiding disruption of the plantar plate, flexor hallucis brevis tendon, and ligamentous structures attached to the sesamoids. Larger studies with long-term follow-up from other centers are needed.

6.
J Clin Med ; 13(13)2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38999243

RESUMEN

Background: Arthroplasty is gaining more and more popularity in the treatment of osteoarthritis (OA) of the metatarsophalangeal I joint (MTP1). The aim of our study was to evaluate the early and long-term objective clinical and radiographic results, as well as the subjective results, of MTP1 arthroplasty in comparison to MTP1 arthrodesis among patients with OA and a valgus deformity of their MTP 1 joint. Methods: Patients with OA MTP1 were examined before surgery and in the 5-year period after surgery. The inclusion criteria for the study were OA of the MTP1 joint and a non-axial position of the toe in valgus between 20 and 40 degrees. Prostheses were created for the patients with higher demands for mobility of their MTP 1 joint and arthrodesis was carried out for those with lower expectations. The treatment outcomes were assessed by clinical examination, radiography, the AOFAS scale, the SEFAS scale, and using patient-related outcome measures (PROM). Results: A total of 39 people, 37 women and 2 men, aged 55 to 67 years old (average, 61 years old) participated in the study. During the follow-up period, there were no complications in the form of infection or a loosening of the implant after both arthroplasty and arthrodesis. The follow-up examination 60 months after the surgery showed an improvement in scores (>20 points) on both the AOFAS and SEFAS scales. All patients, after surgery, reported reduced pain. Conclusions: The use of a silicone prosthesis in the surgical treatment of degenerative changes in the MTPI joint, with appropriate indications and excluding cases with large hallux valgus, gives better results than arthrodesis.

7.
Foot Ankle Clin ; 29(3): 507-520, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39068025

RESUMEN

First metatarsophalangeal (MTP) joint fusion, or arthrodesis, has been a cornerstone treatment for advanced joint degeneration since the 1950s, benefiting not only older patients but also younger individuals. The procedure boasts favorable long-term outcomes and a low rate of revision when fusion is successful. However, complications such as interphalangeal arthritis may occur, and nonunion or malunion can necessitate revision. While the first MTP fusion provides significant relief, its applicability varies, underscoring the need for careful patient selection.


Asunto(s)
Artrodesis , Hallux Rigidus , Articulación Metatarsofalángica , Humanos , Artrodesis/métodos , Hallux Rigidus/cirugía , Hallux Rigidus/diagnóstico por imagen , Articulación Metatarsofalángica/cirugía , Resultado del Tratamiento
8.
Foot Ankle Clin ; 29(3): 529-540, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39068027

RESUMEN

Cheilectomy, a joint-conserving procedure, is often a first-line choice for treating early stages of hallux rigidus. Recent evidence has revealed its efficacy in treating more advanced stages. However, when degeneration is profound, first metatarsophalangeal (MTP) fusion remains the most appropriate strategy. Nevertheless, it is common for surgeons to proceed initially with cheilectomy, reserving joint fusion for subsequent considerations if cheilectomy fails. This article will explore the relationship between the 2 procedures and evaluate the research surrounding the effect of prior cheilectomy on first MTP joint arthrodesis.


Asunto(s)
Artrodesis , Hallux Rigidus , Articulación Metatarsofalángica , Humanos , Articulación Metatarsofalángica/cirugía , Artrodesis/métodos , Hallux Rigidus/cirugía , Hallux Rigidus/diagnóstico por imagen , Resultado del Tratamiento
9.
Foot Ankle Clin ; 29(3): 541-556, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39068028

RESUMEN

This article describes the etiology, clinical presentation, surgical management, and outcomes for treatment of the failed first metatarsophalangeal (MTP) joint arthroplasty. Failure following implant arthroplasty typically creates large osseous deficits and surgical management can be difficult. Salvage arthrodesis provides reliable joint stability while maintaining hallux length. Outcomes following conversion of a failed MTP joint arthroplasty to MTP joint arthrodesis have demonstrated consistent pain relief and high satisfaction: however, high rates of complication and nonunion have been reported. Bone graft may be necessary to fill large voids in the joint. Other revision options for failed arthroplasty have been described, but outcomes remain inconsistent and varied. Ultimately, conversion to MTP joint arthrodesis is the recommended intervention for treatment of the failed MTP arthroplasty implant, providing sufficient stability and pain relief.


Asunto(s)
Artrodesis , Articulación Metatarsofalángica , Reoperación , Humanos , Articulación Metatarsofalángica/cirugía , Artrodesis/métodos , Artrodesis/efectos adversos , Artroplastia de Reemplazo/efectos adversos , Insuficiencia del Tratamiento , Hallux Rigidus/cirugía , Hallux Rigidus/diagnóstico por imagen
10.
Adv Mater ; 36(33): e2406128, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38940075

RESUMEN

The 329-type bismuth (Bi)-based metal halide (MH) polycrystalline films have potential to be applied in the new generation of X-ray imaging technology owing to high X-ray absorption coefficients and excellent detection properties. However, the mutually independent [Bi2X9]3- units and numerous grain boundaries in the material lead to low carrier transport and collection capabilities, severe ion migration, large dark currents, and poor response uniformity. Here, a new multi-phenyl ring methyltriphenylphosphonium (MTP) is designed to optimize the energy band structure. For the first time, the coupling between the A-site cation and [Bi2X9]3- is realized, making it the main contributor to the conduction band minimum (CBM), getting rid of dilemma that carrier transport is confined to [Bi2X9]3-. Further, the preparation of MTP3Bi2I9 amorphous large-area wafer is achieved by melt-quenching; the steric hindrance effect improves stability, increases ion migration energy, and promotes response uniformity (14%). Moreover, the amorphous structure takes advantage of A-site cation participation in the conductivity, achieving a record sensitivity (7601 µC Gy-1 cm-2) and low dark current (≈0.11 nA) in the field of amorphous X-ray detection, and features low-temperature large-area preparation. Ultimately, designing amorphous array imaging devices that exhibit excellent response uniformity and potential imaging capabilities is succeeded here.

11.
Plant Physiol Biochem ; 212: 108740, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38797007

RESUMEN

The metal tolerance protein (MTP) gene family plays an essential role in the transport of heavy metals, however the function of the MTP family in transporting lead (Pb) was still unclear in plants. In this study, we identified and characterized 12 ZmMTPs in the whole genome of maize. These ZmMTP genes were divided into three subfamilies in evolution, namely Zn-CDF, Zn/Fe-CDF, Mn-CDF subfamilies, which showed diverse expression patterns in different tissues of maize. Using gene-based association analyses, we identified a Pb accumulation-related MTP member in maize, ZmMTP11, which was located in plasma membrane and had the potential of transporting Pb ion. Under the Pb treatment, ZmMTP11 showed a generally decreased expression relative to the normal conditions. Heterologous expressions of ZmMTP11 in yeast, Arabidopsis, and rice demonstrated that ZmMTP11 enhanced Pb accumulation in the cells without affecting yeast and plant growth under Pb stress. Remarkably, the increased Pb concentration in the plant roots did not cause changes in Pb content in the shoots. Our study provides new insights into the genetic improvement of heavy metal tolerance in plants and contributes to bioremediation of Pb-contaminant soils.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Plomo , Proteínas de Plantas , Zea mays , Plomo/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Zea mays/genética , Zea mays/metabolismo , Oryza/genética , Oryza/metabolismo , Raíces de Plantas/metabolismo , Raíces de Plantas/genética , Contaminantes del Suelo/metabolismo , Arabidopsis/genética , Arabidopsis/metabolismo , Familia de Multigenes , Filogenia
12.
Phytomedicine ; 129: 155511, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38723523

RESUMEN

BACKGROUND: Mitochondrial dysfunction associated with mitochondrial DNA mutations, enzyme defects, generation of ROS, and altered oxidative homeostasis is known to induce oral carcinogenesis during exposure to arecoline. Butein, a natural small molecule from Butea monosperma, possesses anti-inflammatory, anti-diabetic, and anti-cancer effects. However, the role of butein in the mitochondrial quality control mechanism has not been illuminated clearly. PURPOSE: This study aimed to explore the role of butein in preserving mitochondrial quality control during arecoline-induced mitochondrial dysfunction in oral cancer to curtail the early onset of carcinogenesis. METHODS: Cell viability was evaluated by MTT assay. The relative protein expressions were determined by western blotting. Immunofluorescence and confocal imaging were used to analyze the relative fluorescence and co-localization of proteins. Respective siRNAs were used to examine the knockdown-based studies. RESULTS: Butein, in the presence of arecoline, significantly caused a decrease in mitochondrial hyperpolarization and ROS levels in oral cancer cells. Mechanistically, we found an increase in COXIV, TOM20, and PGC1α expression during butein treatment, and inhibition of PGC1α blunted mitochondrial biogenesis and decreased the mitochondrial pool. Moreover, the fission protein MTP18, and its molecular partners DRP1 and MFF were dose-dependently increased during butein treatment to maintain mitochondria mass. In addition, we also found increased expression of various mitophagy proteins, including PINK1, Parkin, and LC3 during butein treatment, suggesting the clearance of damaged mitochondria to maintain a healthy mitochondrial pool. Interestingly, butein increased the activity of SIRT1 to enhance the functional mitochondrial pool, and inhibition of SIRT1 found to reduce the mitochondrial levels, as evident from the decrease in the expression of PGC1α and MTP18 in oral cancer cells. CONCLUSION: Our study proved that SIRT1 maintains a functional mitochondrial pool through PGC1α and MTP18 for biogenesis and fission of mitochondria during arecoline exposure and could decrease the risk of mitochondria dysfunctionality associated with the onset of oral carcinogenesis.


Asunto(s)
Arecolina , Chalconas , Mitocondrias , Neoplasias de la Boca , Coactivador 1-alfa del Receptor Activado por Proliferadores de Peroxisomas gamma , Especies Reactivas de Oxígeno , Sirtuina 1 , Humanos , Coactivador 1-alfa del Receptor Activado por Proliferadores de Peroxisomas gamma/metabolismo , Neoplasias de la Boca/inducido químicamente , Neoplasias de la Boca/tratamiento farmacológico , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Arecolina/farmacología , Línea Celular Tumoral , Especies Reactivas de Oxígeno/metabolismo , Chalconas/farmacología , Sirtuina 1/metabolismo , Supervivencia Celular/efectos de los fármacos
13.
J Lipid Res ; 65(5): 100540, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38570093

RESUMEN

Intestinal epithelial cells convert excess fatty acids into triglyceride (TAG) for storage in cytoplasmic lipid droplets and secretion in chylomicrons. Nuclear lipid droplets (nLDs) are present in intestinal cells but their origin and relationship to cytoplasmic TAG synthesis and secretion is unknown. nLDs and related lipid-associated promyelocytic leukemia structures (LAPS) were abundant in oleate-treated Caco2 but less frequent in other human colorectal cancer cell lines and mouse intestinal organoids. nLDs and LAPS in undifferentiated oleate-treated Caco2 cells harbored the phosphatidate phosphatase Lipin1, its product diacylglycerol, and CTP:phosphocholine cytidylyltransferase (CCT)α. CCTα knockout Caco2 cells had fewer but larger nLDs, indicating a reliance on de novo PC synthesis for assembly. Differentiation of Caco2 cells caused large nLDs and LAPS to form regardless of oleate treatment or CCTα expression. nLDs and LAPS in Caco2 cells did not associate with apoCIII and apoAI and formed dependently of microsomal triglyceride transfer protein expression and activity, indicating they are not derived from endoplasmic reticulum luminal LDs precursors. Instead, undifferentiated Caco2 cells harbored a constitutive pool of nLDs and LAPS in proximity to the nuclear envelope that expanded in size and number with oleate treatment. Inhibition of TAG synthesis did affect the number of nascent nLDs and LAPS but prevented their association with promyelocytic leukemia protein, Lipin1α, and diacylglycerol, which instead accumulated on the nuclear membranes. Thus, nLD and LAPS biogenesis in Caco2 cells is not linked to lipoprotein secretion but involves biogenesis and/or expansion of nascent nLDs by de novo lipid synthesis.


Asunto(s)
Gotas Lipídicas , Membrana Nuclear , Humanos , Células CACO-2 , Membrana Nuclear/metabolismo , Gotas Lipídicas/metabolismo , Animales , Ratones , Diferenciación Celular/efectos de los fármacos , Citidililtransferasa de Colina-Fosfato/metabolismo , Citidililtransferasa de Colina-Fosfato/genética , Ácido Oléico/farmacología , Ácido Oléico/metabolismo , Triglicéridos/metabolismo
14.
Micromachines (Basel) ; 15(3)2024 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-38542619

RESUMEN

When machining high-speed steels (HSS) with micro-wire electrical discharge machining (micro-WEDM), high surface quality is achieved as standard. The value of the roughness parameter Ra is less than 0.2 µm. However, the problem is the performance of the electroerosion process (MRR), which is low. This problem is related to the mechanical and physical properties of the HSS in combination with the setting of the main technological parameters (MTP). The proposed solution to eliminate this problem relies on the selection of proper procedures for the determination of optimization criteria in relation to Ra and MTP, with the inclusion of properties of the machined material. The solution consisted in the identification of four significant physical (ρ, κ) and mechanical (Rm, HRC) indicators of HSS properties, on the basis of which a suitable combination of the process output parameters Ra and MRR can be determined through established mathematical regression models using simulation and optimization. In the next step, the proper values of the MTP output process parameter settings, which correspond to the optimized output parameters Ra and MRR during machining of HSS by micro-WEDM technology, were then obtained by the same approach.

15.
PeerJ ; 12: e16901, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38436033

RESUMEN

Background: First metatarsophalangeal joint (MTP-1) arthrodesis is a commonly performed procedure in the treatment of disorders of the great toe. Since the incidence of revision after MTP-1 joint arthrodesis is not insignificant, a medial approach with a medially positioned locking plate has been proposed as a new technique. The aim of the study was to investigate the effect of the application of a lag screw on the stability and strength of first metatarsophalangeal joint arthrodesis with medial plate. Methods: The bending tests in a testing machine were performed for models of the first metatarsal bone and the proximal phalanx printed on a 3D printer from polylactide material. The bones were joined using the locking titanium plate and six locking screws. The specimens were divided into three groups of seven each: medial plate and no lag screw, medial plate with a lag screw, dorsal plate with a lag screw. The tests were carried out quasi-static until the samples failure. Results: The addition of the lag screw to the medial plate significantly increased flexural stiffness (41.45 N/mm vs 23.84 N/mm, p = 0.002), which was lower than that of the dorsal plate with a lag screw (81.29 N/mm, p < 0.001). The similar maximum force greater than 700 N (p > 0.50) and the relative bone displacements lower than 0.5 mm for a force of 50 N were obtained for all fixation techniques. Conclusions: The lag screw significantly increased the shear stiffness in particular and reduced relative transverse displacements to the level that should not delay the healing process for the full load of the MTP-1 joint arthrodesis with the medial plate. It is recommended to use the locking screws with a larger cross-sectional area of the head to minimize rotation of the medial plate relative to the metatarsal bone.


Asunto(s)
Artrodesis , Articulación Metatarsofalángica , Artrodesis/efectos adversos , Articulación Metatarsofalángica/cirugía , Placas Óseas , Tornillos Óseos , Extremidades
16.
Eur J Paediatr Neurol ; 49: 60-65, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38377647

RESUMEN

Fatty acid oxidation (FAO) disorders are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Acute symptoms arise during prolonged fasting, intercurrent infections, or intense physical activity. Metabolic crises are characterized by alteration of consciousness, hypoglycemic coma, hepatomegaly, cardiomegaly, arrhythmias, rhabdomyolysis, and can lead to death. In this retrospective and multicentric study, the data of 54 patients with FAO disorders were collected. Overall, 35 patients (64.8%) were diagnosed after newborn screening (NBS), 17 patients on clinical presentation (31.5%), and two patients after family screening (3.7%). Deficiencies identified included medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (75.9%), very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (11.1%), long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (3.7%), mitochondrial trifunctional protein (MTP) deficiency (1.8%), and carnitine palmitoyltransferase 2 (CPT 2) deficiency (7.4%). The NBS results of 25 patients were reviewed and the neurological outcome of this population was compared with that of the patients who were diagnosed on clinical presentation. This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.


Asunto(s)
Acil-CoA Deshidrogenasa/deficiencia , Cardiomiopatías , Carnitina O-Palmitoiltransferasa/deficiencia , Errores Innatos del Metabolismo Lipídico , Errores Innatos del Metabolismo , Proteína Trifuncional Mitocondrial/deficiencia , Tamizaje Neonatal , Rabdomiólisis , Humanos , Recién Nacido , Estudios Retrospectivos , Masculino , Femenino , Tamizaje Neonatal/métodos , Errores Innatos del Metabolismo Lipídico/diagnóstico , Errores Innatos del Metabolismo Lipídico/complicaciones , Bélgica/epidemiología , Lactante , Síndromes Congénitos de Insuficiencia de la Médula Ósea/complicaciones , Síndromes Congénitos de Insuficiencia de la Médula Ósea/diagnóstico , Acil-CoA Deshidrogenasa de Cadena Larga/deficiencia , Ácidos Grasos/metabolismo , Preescolar , Enfermedades Musculares/diagnóstico , Niño , Miopatías Mitocondriales/diagnóstico , Miopatías Mitocondriales/complicaciones , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/complicaciones , Enfermedades del Sistema Nervioso/etiología , Enfermedades del Sistema Nervioso/diagnóstico
17.
Physiol Rep ; 12(3): e15929, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38307709

RESUMEN

Diastolic dysfunction is a major cardiac dysfunction, and an important predisposing factor is age. Although exercise training is often used for the prevention and treatment of cardiovascular disease nowadays, little is currently known about whether exercise interventions associated with the slowing of cardiac aging are related to mtp-related pathways. In the present study, the UAS/Tub-Gal4 system was used to knockdown whole-body mtp expression levels in Drosophila, which underwent 2 weeks of endurance training. By conducting different assays and quantifying different indicators, we sought to investigate the relationship between mtp, exercise, and age-related diastolic dysfunction. We found that (1) Drosophila in the mtpRNAi youth group exhibited age-related diastolic dysfunction and had a significantly shorter mean lifespan. (2) Endurance exercise could improve diastolic dysfunction and prolong lifespan in aged Drosophila. (3) Endurance exercise could increase the expression levels of apolpp and Acox3, and decrease the levels of TC, LDL-C, and TG in the aged group. In summary, aging causes age-associated diastolic dysfunction in Drosophila, and systemic knockdown of mtp causes premature age-associated diastolic dysfunction in young Drosophila. Besides, endurance exercise improves age-related diastolic dysfunction and prolongs lifespan.


Asunto(s)
Envejecimiento , Drosophila melanogaster , Longevidad , Resistencia Física , Animales , Humanos , Envejecimiento/fisiología , Corazón/fisiología , Resistencia Física/fisiología , Drosophila melanogaster/fisiología
18.
Nat Prod Res ; : 1-5, 2024 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-38178602

RESUMEN

Hyperlipidaemia, characterised by elevated levels of lipids, particularly LDL-C, is a significant risk factor for atherosclerotic cardiovascular disease. While synthetic inhibitors of microsomal triglyceride transfer protein (MTP) have shown potential in lowering LDL-C, they are associated with adverse effects. This study explores a novel approach by screening natural products to identify plant extracts that down-regulate MTP gene expression, aiming to reduce hyperlipidaemia with fewer side effects. Modulating MTP expression, rather than direct inhibition, offers a promising avenue for lowering plasma lipids and mitigating cardiovascular risk. Various plant extracts were examined for their potential as MTP down-regulators, with Liquorice root and Pomegranate rind extracts demonstrating the highest efficacy. Additionally, the study assessed the total phenolic content of these extracts, revealing their -antioxidant capacity. This research provides a foundation for further investigation into bioactive molecules as potential anti-hyperlipidemic agents with improved safety profiles, addressing a critical need in cardiovascular disease prevention.

19.
Microbiol Resour Announc ; 13(2): e0113423, 2024 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-38270452

RESUMEN

We report a preliminary study of soil from the Central Deccan Plateau dry tropical deciduous forest in India using 16S rRNA gene amplicon sequencing. We report diverse taxa, e.g., Proteobacteria, Actinobacteria, Acidobacteria, Plactomycetes, Chloroflexi, Bacteroidetes, Verrucomicrobia, Gemmatimonadetes, Firmicutes, Crenarchaeota, Nitrospirae, Armatimonadetes, Elusimicrobia, Cyanobacteria, Chlamydiae, Chlorobi, Parvachaeota, Tenericutes, Euryarchaeota, Fibrobacteres, Calditrix, and Spirochaetes.

20.
Foot Ankle Spec ; : 19386400231218337, 2023 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-38130108

RESUMEN

BACKGROUND: First metatarsophalangeal (MTP) arthrodesis is a common surgical procedure for addressing hallux MTP pathology. In the setting of revision procedures with significant bone loss, porous titanium wedges may provide an alternative to structural bone autograft or allograft. OBJECTIVE: The purpose of this study is to report the clinical and radiographic outcomes achieved in first MTP interposition arthrodesis using porous titanium wedges. METHODS: A retrospective analysis of 9 patients with a mean age 65.4 years (45-82 years) who underwent first MTP interposition arthrodesis with the use of porous titanium wedges from February 2014 to September 2017 was performed. Outcomes were assessed using both plain-film radiographs and computed tomography (CT) scans, as well as patient-reported outcome measures, including Foot and Ankle Ability Measure (FAAM) (Sports and Activities of Daily Living), pain Visual Analogue Scale (VAS), and 36-Item Short Form Survey (SF-36). Average follow-up time was 34.2 months (14-72 months). RESULTS: At final follow-up, the average FAAM score was 91.1 ± 14.7 (75.1 ± 5.3 FAAM Activities of Daily Living; 17.9 ± 9.9 FAAM Sports). Average pain VAS score was 1.9 ± 1.7. Postoperative computed tomography (CT) imaging was obtained for 5 patients, all of which demonstrated good bony apposition or osseous integration of the wedge. Four patients underwent subsequent surgical procedures, including 3 isolated dorsal fixation revisions, and 1 complete MTP arthrodesis revision. CONCLUSION: To our knowledge, this study represents the first reported clinical and radiographic outcomes in patients undergoing first MTP interposition arthrodesis with use of porous titanium wedges. While we found this technique to be a viable alternative to bone grafting for this difficult problem, further research should focus on comparative data with other commonly performed operative techniques. LEVEL OF EVIDENCE: Level IV: Case series.

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