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1.
Cir Esp (Engl Ed) ; 102 Suppl 1: S45-S60, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38851317

RESUMO

The revolution that we are seeing in the world of surgery will determine the way we understand surgical approaches in coming years. Since the implementation of minimally invasive surgery, innovations have constantly been developed to allow the laparoscopic approach to go further and be applied to more and more procedures. In recent years, we have been in the middle of another revolutionary era, with robotic surgery, the application of artificial intelligence and image-guided surgery. The latter includes 3D reconstructions for surgical planning, virtual reality, holograms or tracer-guided surgery, where ICG-guided fluorescence has provided a different perspective on surgery. ICG has been used to identify anatomical structures, assess tissue perfusion, and identify tumors or tumor lymphatic drainage. But the most important thing is that this technology has come hand in hand with the potential to develop other types of tracers that will facilitate the identification of tumor cells and ureters, as well as different light beams to identify anatomical structures. These will lead to other types of systems to assess tissue perfusion without the use of tracers, such as hyperspectral imaging. Combined with the upcoming introduction of ICG quantification, these developments represent a real revolution in the surgical world. With the imminent implementation of these technological advances, a review of their clinical application in general surgery is timely, and this review serves that aim.


Assuntos
Previsões , Verde de Indocianina , Cirurgia Assistida por Computador , Humanos , Cirurgia Assistida por Computador/métodos , Cirurgia Assistida por Computador/tendências , Procedimentos Cirúrgicos Robóticos/métodos , Procedimentos Cirúrgicos Robóticos/tendências , Imagem Óptica/métodos , Corantes Fluorescentes
2.
J Abdom Wall Surg ; 3: 12562, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38764701

RESUMO

Purpose: To describe and compare a peritoneal closure technique using cyanoacrylate glue (Glubran 2®, GEM, Cardiolink SL) with a microdroplet device (Glutack®, GEM, Cardiolink SL) in laparoscopic transabdominal preperitoneal repair (TAPP) of inguinal hernia with the routinely used barbed suture peritoneal closure (V-Lock 3.0, Covidien France). Materials and methods: From January to August 2022, 60 patients undergoing TAPP repair for uni- or bilateral inguinal hernia were randomized into one of two groups. One using as mesh fixation and peritoneal closure the Glutack® device with Glubran 2® cyanoacrylate glue (Glu-close group) and the other using mesh fixation with cyanoacrylate and peritoneal closure with V-lock 3.0 (Sut-close group), with a follow-up of 12 months. Demographic variables, operative time, peritoneal closure time, main surgical findings and main intra- and postoperative complications were analyzed prospectively. Results: 63 patients were included with no losses to follow-up. The mean operative time was 34 min (range 58.25) for the glu-close group and 40 (range 64.25) for the sut-close group, with no conversion (0%) for either group. The mean flap closure time was 1.18 min (SD 24 0.19) for the glu-close group and 3.24 min (SD 0.78) for the sut-close group, with statistically significant differences (p < 0.001). The intraoperative complication rate was 0 for the glu-close group and 0 for the sut-close group, with no significant difference. The median hospital stay was 0.8 days (range, 0-1) for both groups. The median duration of follow-up was 12 months and none had hernia recurrence. The postoperative VAS score at the first and second check-up at 1 month and 3 months was 2.83 (SD 1.341) and 0.60 (SD 0.621) in the sut-close group and 1.03 (0.984) and 0.24 (SD 0.435) in the glue-close group, with significant differences (p < 0.001 and p < 0.012). Conclusion: The data demonstrated by the study are that the glue can be used safely to close the peritoneum and that the method provides a small, statistically significant but not clinically relevant reduction in the time to close the peritoneal flap, as well as in postoperative pain after surgery in short and medium term.

3.
Antibiotics (Basel) ; 13(5)2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38786157

RESUMO

The heterogenicity of antimicrobial resistance genes described in clinically significant bacterial isolates and their potential role in reducing the efficacy of classically effective antibiotics pose a major challenge for global healthcare, especially in infections caused by Gram-negative bacteria. We analyzed 112 multidrug-resistant (MDR) isolates from clinical samples in order to detect high resistance profiles, both phenotypically and genotypically, among four Gram-negative genera (Acinetobacter, Escherichia, Klebsiella, and Pseudomonas). We found that 9.8% of the total selected isolates were classified as extensively drug-resistant (XDR) (six isolates identified as A. baumannii and five among P. pneumoniae isolates). All other isolates were classified as MDR. Almost 100% of the isolates showed positive results for blaOXA-23 and blaNDM-1 genes among the A. baumannii samples, one resistance gene (blaCTX-M) among E. coli, and two genetic determinants (blaCTX-M and aac(6')-Ib) among Klebsiella. In contrast, P. aeruginosa showed just one high-frequency antibiotic resistance gene (dfrA), which was present in 68.42% of the isolates studied. We also describe positive associations between ampicillin and cefotaxime resistance in A. baumannii and the presence of blaVEB and blaGES genes, as well as between the aztreonam resistance phenotype and the presence of blaGES gene in E. coli. These data may be useful in achieving a better control of infection strategies and antibiotic management in clinical scenarios where these multidrug-resistant Gram-negative pathogens cause higher morbidity and mortality.

7.
Ann Surg ; 279(1): 24-28, 2024 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-37641981

RESUMO

OBJECTIVE: To evaluate the safety, efficacy, and cost-effectiveness of outpatient appendectomy in patients with uncomplicated acute appendicitis. BACKGROUND: Given that acute appendicitis is the most common cause of acute abdomen, the introduction of outpatient appendectomy protocols could significantly improve the effectiveness and sustainability of health care systems. METHODS: A total of 300 patients were enrolled from October 2018 to June 2021 in the PENDI-CSI randomized clinical trial: 149 were assigned to the outpatient surgery (OPS) group and 151 to the inpatient surgery (IPS) group, followed by 1 month postoperatively. All patients were aged older than 14 years and had uncomplicated acute appendicitis. Exclusion criteria were pregnancy, neoplasms, inflammatory bowel disease, and high anesthetic risk (ASA IV). The OPS group was discharged from the postanesthesia care unit while the IPS group was admitted. RESULTS: In total, 128 patients in the OPS group (85.9%) were discharged without admission. Predictors whether patients in the OPS group had to be admitted were aged over 31 years [relative risk (RR): 2.42 (1.04-5.65)], hypertension [RR: 6.21 (3.22-11.97)], anesthetic risk II-III [RR: 2.63 (1.17-5.94)], previous abdominal surgery [RR: 3.34 (1.55-7.20)], postoperative pain with visual analog scale >6 [RR: 4.28 (2.67-6.86)], and postoperative fear [RR: 2.2 (1.04-4.67)]. There were no differences in terms of complications, readmissions, and reinterventions, and the perceived quality was similar in both groups. The outpatient modality produced savings of €1 034.97 per patient ( P < 0.001). CONCLUSIONS: Outpatient appendectomy is safe and effective for uncomplicated acute appendicitis. Patient-perceived quality is similar to that of IPS, although it successfully reduces hospital costs compared with inpatient appendectomy.


Assuntos
Anestésicos , Apendicite , Humanos , Idoso , Apendicite/cirurgia , Apendicite/tratamento farmacológico , Análise Custo-Benefício , Procedimentos Cirúrgicos Ambulatórios , Apendicectomia/métodos , Doença Aguda , Resultado do Tratamento , Antibacterianos/uso terapêutico
9.
An Acad Bras Cienc ; 95(4): e20191385, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38088699

RESUMO

Non-target species from agricultural areas might be exposed to sublethal pesticide concentrations favoring survival and reproduction of the resistance individuals. The objective of this study was to evaluate chlorpyrifos toxicity and detoxification enzymatic activities on three species (Hyalella curvispina, Heleobia parchappii and Girardia tigrina) from a drain channel with history of insecticide contamination (EF) and the Neuquén river (NR) in Argentina. Chlorpyrifos toxicity on amphipods (H. curvispina) and planarians (G. tigrina) from NR was about six- and two-fold higher than that of their counterparts from EF. Mean carboxylesterases (CarE) activities determined in the three species from NR were significantly different from EF, whereas mean glutathione-S-transferase (GST) activities were no significantly different. Finally, planarians from EF showed significantly higher mean 7-ethoxycoumarine O-deethylase (ECOD) activity than those from NR. Amphipods from both sites displayed similar ECOD activities. The present results suggest that chlorpyrifos resistance in amphipods from EF is not conferred by increased detoxification.


Assuntos
Anfípodes , Clorpirifos , Inseticidas , Praguicidas , Poluentes Químicos da Água , Humanos , Animais , Clorpirifos/toxicidade , Poluentes Químicos da Água/toxicidade , Poluentes Químicos da Água/análise , Inseticidas/toxicidade , Agricultura
10.
Onco Targets Ther ; 16: 891-904, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37927328

RESUMO

Purpose: To determine whether galectin-9 gene (LGALS9) expression is correlated with cervical cancer progression, clinicopathological characteristics, and overall survival. To determine the biological processes and the abundance of tumour infiltrating immune cells related to the expression of LGALS9. Patients and Methods: The study was conducted in two phases: 1) The expression level of LGALS9 was determined using the data of 193 squamous cell carcinoma (SCC) samples from The Cancer Genome Atlas (TCGA) database. Biological processes and tumour infiltrating cells associated to LGALS9 expression were evaluated using gene set enrichment analysis (GSEA) and tumour immune estimation resource (TIMER). 2) Independently, galectin-9 was identified in 40 SCC samples by immunohistochemistry and optical density quantified using ImagePro® software. Results: The LGALS9 gene showed increased expression in cervical cancer samples. A higher expression level in SCC was related to better overall survival and to early clinical stages. GSEA showed that tumours with higher expression of LGALS9 were enriched in immune pathways such as interferon_alpha_response, and complement, the analysis of TIMER database showed a positive correlation between the expression level of LGALS9 and the abundance of tumour infiltrating immune cells. In addition, higher expression of galectin-9 was found in biopsies of SCC patients at early clinical stages, showing a trend of better survival. Conclusion: Higher expression levels of LGALS9 and galectin-9 in SCC were related to early clinical stages and better prognosis. GSEA and TIMER analysis suggested that galectin-9 could play an antitumor role in cervical SCC.

11.
J Wound Ostomy Continence Nurs ; 50(6): 484-488, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37966076

RESUMO

PURPOSE: This aim of this study was to compare the impact on hospital stay and short-term overall complications prior to and following the introduction of an outpatient preoperative ostomy education program to an existing inpatient ostomy education program. DESIGN: A comparison cohort study. SUBJECTS AND SETTING: One hundred thirty-eight consecutive patients undergoing ostomy surgery were included. One group (n = 65, 47%) was given an experimental preoperative ostomy education intervention, along with standard care including a postoperative educational intervention during the initial hospital course. A second group (n = 73, 53%) received the same standardized education in the postoperative period. Data were collected from a single tertiary center located in Seville, Spain, during a 12-month period between July 2014 and June 2015. METHODS: Data were collected in 2 phases. Data from participants undergoing postoperative (standard) education were collected retrospectively. Data for the group receiving preoperative education were collective prospectively. Outcome variables were postoperative length of stay, surgical complications (severity was assessed by the Clavien-Dindo grading system), subsequent interventions, and readmission rates. RESULTS: Analysis indicated no differences between the average length of postoperative hospital stay (12.32 days in the preoperative education group vs 12.76 days in the postoperative education group, P = .401). In contrast, overall complications, mortality, and readmission rates were significantly higher in the preoperative education program group (P = .027, P = .047, and P = .046, respectively). CONCLUSIONS: Delivering a standardized educational intervention during the preoperative period versus postoperative education delivery during the ostomy surgery hospital course did not reduce length of stay. Analysis indicated that overall complications, mortality, and readmission rates were significantly higher in the preoperative education program group but we hypothesize that intervening factors may have influenced these outcomes.


Assuntos
Estomia , Complicações Pós-Operatórias , Humanos , Estudos de Coortes , Estudos Retrospectivos , Complicações Pós-Operatórias/prevenção & controle , Cuidados Pré-Operatórios , Tempo de Internação
12.
Cir Esp (Engl Ed) ; 101 Suppl 1: S11-S18, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37951466

RESUMO

The repair of inguinal hernia is one of the most frequently performed surgeries in General Surgery units. The laparoscopic approach for these hernias will be clearly considered as the gold standard, based on its advantages over the open approach. There are no clear advantages of the transabdominal preperitoneal approach (TAPP) over the totally preperitoneal approach (TEP), although it has been shown to be more reproducible, presenting a shorter learning curve, although it presents more possibilities of developing trocar site hernias. Laparoscopic TAPP could be superior to TEP in the following indications: incarcerated hernias, emergencies, previous preperitoneal surgery, previous Pfanestiel-type incision, recurrent hernias, inguinoscrotal hernias and obese, being also a better alternative for females. Robotic TAPP is a safe approach with similar results to laparoscopy; however, it is related to an increase in costs and operating time. The value of this technology for the repair of complex hernias (multiple recurrences, inguino-scrotal or after previous preperitoneal surgery) remains to be determined, since they represent a certain challenge for the conventional laparoscopic approach. On the other hand, robotic repair of inguinal hernias may be a way to reduce the learning curve before addressing complex ventral hernias. Finally, artificial intelligence applied to the laparoscopic approach to inguinal hernia will undoubtedly have a significant impact in the future especially to determine the best the indications for this approach, on the performance of a safer technique, on the correct selection of meshes and fixation mechanisms, and on learning curve.


Assuntos
Hérnia Inguinal , Laparoscopia , Feminino , Humanos , Hérnia Inguinal/cirurgia , Resultado do Tratamento , Inteligência Artificial , Laparoscopia/métodos , Previsões
13.
Cureus ; 15(9): e45449, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37859900

RESUMO

Osteochondroma is the most common benign bone tumor. It can be classified as isolated or multiple. While the majority of osteochondromas are asymptomatic and found incidentally, they can become symptomatic during adolescence or adulthood due to mechanical irritation, nerve compression, spinal cord compression, or vascular injury. In this article, we present a case of a 14-year-old patient who experienced spontaneous hemothorax caused by bleeding from a diaphragmatic laceration incurred by a costal exostosis on the right eighth rib. A preoperative chest CT scan revealed a bony projection from the rib and bloody effusion in the thoracic cavity, highlighting the possibility of bloody pleural effusion due to costal exostosis. It is important to note that costal osteochondromas are a rare cause of thoracic injury and can lead to laceration of the lung, diaphragm, and/or pericardium. Surgical intervention should be considered for symptomatic rib osteochondroma, and we advocate for prophylactic surgical removal of intrathoracic exostosis even in asymptomatic patients, in order to prevent potential complications.

14.
Theor Appl Genet ; 136(11): 235, 2023 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-37878079

RESUMO

KEY MESSAGE: NIRS of wheat grains as phenomic predictors for grain yield show inflated prediction ability and are biased toward grain protein content. Estimating the breeding value of individuals using genome-wide marker data (genomic prediction) is currently one of the most important drivers of breeding progress in major crops. Recently, phenomic technologies, including remote sensing and aerial hyperspectral imaging of plant canopies, have made it feasible to predict the breeding value of individuals in the absence of genetic marker data. This is commonly referred to as phenomic prediction. Hyperspectral measurements in the form of near-infrared spectroscopy have been used since the 1980 s to predict compositional parameters of harvest products. Moreover, in recent studies NIRS from grains was used to predict grain yield. The same studies showed that phenomic prediction can outperform genomic prediction for grain yield. The genome is static and not environment dependent, thereby limiting genomic prediction ability. Gene expression is tissue specific and differs under environmental influences, leading to a tissue- and environment-specific phenome, potentially explaining the higher predictive ability of phenomic prediction. Here, we compare genomic prediction and phenomic prediction from hyperspectral measurements of wheat grains for the prediction of a variety of traits including grain yield. We show that phenomic predictions outperform genomic prediction for some traits. However, phenomic predictions are biased toward the information present in the predictor. Future studies on this topic should investigate whether population parameters are retained in phenomic prediction as they are in genomic prediction. Furthermore, we find that unbiased phenomic prediction abilities are considerably lower than previously reported and recommend a method to circumvent this issue.


Assuntos
Fenômica , Melhoramento Vegetal , Humanos , Genômica , Fenótipo , Produtos Agrícolas , Grão Comestível , Triticum/genética
15.
Colorectal Dis ; 25(10): 2033-2042, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37712246

RESUMO

AIM: This study aimed to assess technical aspects and clinical results of a new minimally invasive technique in parastomal hernia (PSH) repair, full endoscopic retromuscular access, after 2 years of follow-up. METHODS: Data from consecutive patients requiring minimally invasive ventral PSH repair were collected from 2019 to 2022. The inclusion criteria were patients aged between 18 and 80 years old with symptomatic PSH. Demographics and perioperative and postoperative data were collected. Postoperative pain and functional recovery were compared with preoperative data. RESULTS: Twelve patients with symptomatic PSH were included. The mean PSH defect area was 16.2 cm2 and the mean midline defect was 8.7 cm2 . No intra-operative complications or conversion to open surgery were detected. One patient (8%) required postoperative readmission due to partial bowel obstruction symptoms that required catheterization of the stoma. Pain significantly worsened after the first postoperative day compared to preoperative data but improved after the first postoperative month compared to the first postoperative week and after the 90th postoperative day compared to the first postoperative month, with significant differences. Significant restriction improvement was identified when 30 days after surgery data were compared to preoperative data and when the 180th postoperative day results were compared to 30 days after surgery. The average follow-up was 29 months. During the follow-up no clinical or radiological recurrence was observed. CONCLUSION: This paper shows low rate of intra- and postoperative complications with significant improvement in terms of pain activities restriction compared to preoperatory. After 29 months follow-up, no recurrence was identified, confirming that this approach offers good mid-term results.


Assuntos
Hérnia Ventral , Hérnia Incisional , Laparoscopia , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Colostomia/efeitos adversos , Colostomia/métodos , Seguimentos , Hérnia Ventral/cirurgia , Estudos Prospectivos , Herniorrafia/métodos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Laparoscopia/métodos , Dor Pós-Operatória , Telas Cirúrgicas/efeitos adversos , Hérnia Incisional/etiologia , Hérnia Incisional/cirurgia
17.
Theor Appl Genet ; 136(7): 164, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-37392221

RESUMO

KEY MESSAGE: A major yellow rust resistance QTL, QYr.nmbu.6A, contributed consistent adult plant resistance in field trials across Europe, China, Kenya and Mexico. Puccinia striiformis f. sp. tritici, causing wheat yellow rust (YR), is one of the most devastating biotrophic pathogens affecting global wheat yields. Owing to the recent epidemic of the PstS10 race group in Europe, yellow rust has become a reoccurring disease in Norway since 2014. As all stage resistances (ASR) (or seedling resistances) are usually easily overcome by pathogen evolution, deployment of durable adult plant resistance (APR) is crucial for yellow rust resistance breeding. In this study, we assessed a Nordic spring wheat association mapping panel (n = 301) for yellow rust field resistance in seventeen field trials from 2015 to 2021, including nine locations in six countries across four different continents. Nine consistent QTL were identified across continents by genome-wide association studies (GWAS). One robust QTL on the long arm of chromosome 6A, QYr.nmbu.6A, was consistently detected in nine out of the seventeen trials. Haplotype analysis of QYr.nmbu.6A confirmed significant QTL effects in all tested environments and the effect was also validated using an independent panel of new Norwegian breeding lines. Increased frequency of the resistant haplotype was found in new varieties and breeding lines in comparison to older varieties and landraces, implying that the resistance might have been selected for due to the recent changes in the yellow rust pathogen population in Europe.


Assuntos
Basidiomycota , Triticum , Adulto , Humanos , Triticum/genética , Estudo de Associação Genômica Ampla , Melhoramento Vegetal , Noruega , Europa (Continente)
18.
Euro Surveill ; 28(24)2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37318762

RESUMO

BackgroundAppropriate vaccination strategies have been key to controlling the outbreak of mpox outside endemic areas in 2022, yet few studies have provided information on mpox vaccine effectiveness (VE).AimTo assess VE after one dose of a third-generation smallpox vaccine against mpox when given as post-exposure prophylaxis (PEP) within 14 days.MethodsA survival analysis in a prospective cohort of close contacts of laboratory-confirmed mpox cases was conducted from the beginning of the outbreak in the region of Madrid in May 2022. The study included contacts of cases in this region diagnosed between 17 May and 15 August 2022. Follow up was up to 49 days. A multivariate proportional hazard model was used to evaluate VE in the presence of confounding and interaction.ResultsInformation was obtained from 484 close contacts, of which 230 were vaccinated within 14 days of exposure. Of the close contacts, 57 became ill during follow-up, eight vaccinated and 49 unvaccinated. The adjusted effectiveness of the vaccine was 88.8% (95% CI: 76.0-94.7). Among sexual contacts, VE was 93.6% (95% CI: 72.1-98.5) for non-cohabitants and 88.6% (95% CI: 66.1-96.2) for cohabitants.ConclusionPost-exposure prophylaxis of close contacts of mpox cases is an effective measure that can contribute to reducing the number of cases and eventually the symptoms of breakthrough infections. The continued use of PEP together with pre-exposure prophylaxis by vaccination and other population-targeted prevention measures are key factors in controlling an mpox outbreak.


Assuntos
Mpox , Humanos , Estudos Prospectivos , Espanha/epidemiologia , Eficácia de Vacinas , Surtos de Doenças/prevenção & controle
19.
Pediatr Radiol ; 53(10): 2048-2053, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37341725

RESUMO

BACKGROUND: Fibrous hamartoma of infancy is a benign tumor that typically arises within the first 2 years of life in the subcutaneous and lower dermal layers. Diagnosis can be challenging as it is a rare tumor, and the imaging appearance is not well known. OBJECTIVE: To describe the imaging features in 4 cases of fibrous hamartoma of infancy focusing on ultrasound (US) and magnetic resonance (MR) findings. MATERIALS AND METHODS: In this retrospective IRB-approved study, informed consent was waived. We searched patient charts for histopathology-confirmed fibrous hamartoma of infancy diagnosis between November 2013 and November 2022. We found four cases, three boys and one girl, and the mean age was 1.4 years (5 months-3 years). The lesions were located in the axilla, posterior elbow, posterior neck, and lower back. All four patients underwent ultrasound evaluation of the lesion, and two patients also underwent MRI evaluation. The imaging findings were reviewed by consensus by two pediatric radiologists. RESULTS: US imaging revealed subcutaneous lesions with variably defined hyperechoic regions and intervening hypoechoic bands resulting in a linear "serpentine" pattern or a "multiple semicircle" pattern. MR imaging evidenced heterogeneous soft tissue masses, localized in the subcutaneous fat, and showed hyperintense fat interspersed with hypointense septations on both T1- and T2-weighted images. CONCLUSION: Fibrous hamartoma of infancy has a suggestive appearance on US with heterogeneous, echogenic subcutaneous lesions with intervening hypoechoic portions, in parallel or circumferential arrangement that can be seen as a serpentine or semicircular pattern. On MRI, interspersed macroscopic fatty components show high signal intensity on T1- and T2-weighted images and reduced signal on fat-suppressed inversion recovery images, with irregular peripheral enhancement.


Assuntos
Hamartoma , Neoplasias Cutâneas , Masculino , Criança , Feminino , Humanos , Lactente , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Hamartoma/diagnóstico por imagem , Pescoço
20.
Bone Res ; 11(1): 25, 2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37193680

RESUMO

Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild increase in cortical and cancellous femoral bone mass. However, consequences of absence of FMR1 in bone of young/aged male/female mice and the cellular basis of the skeletal phenotype remain unknown. We found that absence of FMR1 results in improved bone properties with higher bone mineral density in both sexes and in 2- and 9-mo mice. The cancellous bone mass is higher only in females, whereas, cortical bone mass is higher in 2- and 9-mo males, but higher in 2- and lower in 9-mo female FMR1-knockout mice. Furthermore, male bones show higher biomechanical properties at 2mo, and females at both ages. Absence of FMR1 increases osteoblast/mineralization/bone formation and osteocyte dendricity/gene expression in vivo/ex vivo/in vitro, without affecting osteoclasts in vivo/ex vivo. Thus, FMR1 is a novel osteoblast/osteocyte differentiation inhibitor, and its absence leads to age-, site- and sex-dependent higher bone mass/strength.

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