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1.
Genes Dev ; 34(13-14): 989-1001, 2020 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-32499401

RESUMEN

Polymerases and exonucleases act on 3' ends of nascent RNAs to promote their maturation or degradation but how the balance between these activities is controlled to dictate the fates of cellular RNAs remains poorly understood. Here, we identify a central role for the human DEDD deadenylase TOE1 in distinguishing the fates of small nuclear (sn)RNAs of the spliceosome from unstable genome-encoded snRNA variants. We found that TOE1 promotes maturation of all regular RNA polymerase II transcribed snRNAs of the major and minor spliceosomes by removing posttranscriptional oligo(A) tails, trimming 3' ends, and preventing nuclear exosome targeting. In contrast, TOE1 promotes little to no maturation of tested U1 variant snRNAs, which are instead targeted by the nuclear exosome. These observations suggest that TOE1 is positioned at the center of a 3' end quality control pathway that selectively promotes maturation and stability of regular snRNAs while leaving snRNA variants unprocessed and exposed to degradation in what could be a widespread mechanism of RNA quality control given the large number of noncoding RNAs processed by DEDD deadenylases.


Asunto(s)
Proteínas Nucleares/metabolismo , Procesamiento de Término de ARN 3'/genética , Estabilidad del ARN/genética , ARN Nuclear Pequeño/genética , Línea Celular , Núcleo Celular/metabolismo , Eliminación de Gen , Células HeLa , Humanos , Proteínas de Transporte Nucleocitoplasmático/metabolismo , Fosfoproteínas/metabolismo , ARN Nuclear Pequeño/biosíntesis
2.
Proc Natl Acad Sci U S A ; 121(3): e2315259121, 2024 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-38194449

RESUMEN

Competing exonucleases that promote 3' end maturation or degradation direct quality control of small non-coding RNAs, but how these enzymes distinguish normal from aberrant RNAs is poorly understood. The Pontocerebellar Hypoplasia 7 (PCH7)-associated 3' exonuclease TOE1 promotes maturation of canonical small nuclear RNAs (snRNAs). Here, we demonstrate that TOE1 achieves specificity toward canonical snRNAs through their Sm complex assembly and cap trimethylation, two features that distinguish snRNAs undergoing correct biogenesis from other small non-coding RNAs. Indeed, disruption of Sm complex assembly via snRNA mutations or protein depletions obstructs snRNA processing by TOE1, and in vitro snRNA processing by TOE1 is stimulated by a trimethylated cap. An unstable snRNA variant that normally fails to undergo maturation becomes fully processed by TOE1 when its degenerate Sm binding motif is converted into a canonical one. Our findings uncover the molecular basis for how TOE1 distinguishes snRNAs from other small non-coding RNAs and explain how TOE1 promotes maturation specifically of canonical snRNAs undergoing proper processing.


Asunto(s)
Exonucleasas , ARN Nuclear Pequeño , ARN Nuclear Pequeño/genética , ARN , Mutación , Control de Calidad
3.
Plant J ; 2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39040005

RESUMEN

The outcome of certain plant-virus interaction is symptom recovery, which is accompanied with the emergence of asymptomatic tissues in which the virus accumulation decreased dramatically. This phenomenon shows the potential to reveal critical molecular factors for controlling viral disease. MicroRNAs act as master regulators in plant growth, development, and immunity. However, the mechanism by which miRNA participates in regulating symptom recovery remains largely unknown. Here, we reported that miR172 was scavenged in the recovered tissue of tobacco mosaic virus (TMV)-infected Nicotiana tabacum plants. Overexpression of miR172 promoted TMV infection, whereas silencing of miR172 inhibited TMV infection. Then, TARGET OF EAT3 (TOE3), an APETALA2 transcription factor, was identified as a downstream target of miR172. Overexpression of NtTOE3 significantly improved plant resistance to TMV infection, while knockout of NtTOE3 facilitated virus infection. Furthermore, transcriptome analysis indicated that TOE3 promoted the expression of defense-related genes, such as KL1 and MLP43. Overexpression of these genes conferred resistance of plant against TMV infection. Importantly, results of dual-luciferase assay, chromatin immunoprecipitation-quantitative PCR, and electrophoretic mobility shift assay proved that TOE3 activated the transcription of KL1 and MLP43 by binding their promoters. Moreover, overexpression of rTOE3 (the miR172-resistant form of TOE3) significantly reduced TMV accumulation compared to the overexpression of TOE3 (the normal form of TOE3) in miR172 overexpressing Nicotiana benthamiana plants. Taken together, our study reveals the pivotal role of miR172/TOE3 module in regulating plant immunity and in the establishment of recovery in virus-infected tobacco plants, elucidating a regulatory mechanism integrating plant growth, development, and immune response.

4.
Proc Natl Acad Sci U S A ; 119(9)2022 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-35217624

RESUMEN

An increased incidence of chilblains has been observed during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic and attributed to viral infection. Direct evidence of this relationship has been limited, however, as most cases do not have molecular evidence of prior SARS-CoV-2 infection with PCR or antibodies. We enrolled a cohort of 23 patients who were diagnosed and managed as having SARS-CoV-2-associated skin eruptions (including 21 pandemic chilblains [PC]) during the first wave of the pandemic in Connecticut. Antibody responses were determined through endpoint titration enzyme-linked immunosorbent assay and serum epitope repertoire analysis. T cell responses to SARS-CoV-2 were assessed by T cell receptor sequencing and in vitro SARS-CoV-2 antigen-specific peptide stimulation assays. Immunohistochemical and PCR studies of PC biopsies and tissue microarrays for evidence of SARS-CoV-2 were performed. Among patients diagnosed and managed as "covid toes" during the pandemic, we find a percentage of prior SARS-CoV-2 infection (9.5%) that approximates background seroprevalence (8.5%) at the time. Immunohistochemistry studies suggest that SARS-CoV-2 staining in PC biopsies may not be from SARS-CoV-2. Our results do not support SARS-CoV-2 as the causative agent of pandemic chilblains; however, our study does not exclude the possibility of SARS-CoV-2 seronegative abortive infections.


Asunto(s)
COVID-19/complicaciones , Eritema Pernio/inmunología , Adulto , COVID-19/epidemiología , Eritema Pernio/epidemiología , Eritema Pernio/virología , Connecticut/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , SARS-CoV-2/inmunología , Adulto Joven
5.
J Biol Chem ; 299(9): 105139, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37544646

RESUMEN

The levels of non-coding RNAs (ncRNAs) are regulated by transcription, RNA processing, and RNA degradation pathways. One mechanism for the degradation of ncRNAs involves the addition of oligo(A) tails by non-canonical poly(A) polymerases, which then recruit processive sequence-independent 3' to 5' exonucleases for RNA degradation. This pathway of decay is also regulated by three 3' to 5' exoribonucleases, USB1, PARN, and TOE1, which remove oligo(A) tails and thereby can protect ncRNAs from decay in a manner analogous to the deubiquitination of proteins. Loss-of-function mutations in these genes lead to premature degradation of some ncRNAs and lead to specific human diseases such as Poikiloderma with Neutropenia (PN) for USB1, Dyskeratosis Congenita (DC) for PARN and Pontocerebellar Hypoplasia type 7 (PCH7) for TOE1. Herein, we review the biochemical properties of USB1, PARN, and TOE1, how they modulate ncRNA levels, and their roles in human diseases.


Asunto(s)
Exorribonucleasas , ARN no Traducido , Humanos , Disqueratosis Congénita/fisiopatología , Exorribonucleasas/genética , Exorribonucleasas/metabolismo , Neutropenia/fisiopatología , Estabilidad del ARN/genética , ARN no Traducido/genética , Mutación con Pérdida de Función
6.
Cardiovasc Diabetol ; 23(1): 200, 2024 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-38867292

RESUMEN

OBJECTIVES: There is currently limited understanding of the relationship between copeptin, the midregional portion of proadrenomedullin (MRproADM) and the midregional fragment of the N-terminal of proatrial natriuretic peptide (MRproANP), and arterial disorders. Toe brachial index (TBI) and aortic pulse wave velocity (aPWV) are established parameters for detecting arterial disorders. This study evaluated whether copeptin, MRproADM, and MRproANP were associated with TBI and aPWV in patients with type 2 diabetes with no history of cardiovascular disease (CVD). METHODS: In the CARDIPP study, a cross-sectional analysis of 519 patients with type 2 diabetes aged 55-65 years with no history of CVD at baseline, had complete data on copeptin, MRproADM, MRproANP, TBI, and aPWV was performed. Linear regression analysis was used to investigate the associations between conventional CVD risk factors, copeptin, MRproADM, MRproANP, TBI, and aPWV. RESULTS: Copeptin was associated with TBI (ß-0.0020, CI-0.0035- (-0.0005), p = 0.010) and aPWV (ß 0.023, CI 0.002-0.044, p = 0.035). These associations were independent of age, sex, diabetes duration, mean 24-hour ambulatory systolic blood pressure, glycated hemoglobin A1c, total cholesterol, estimated glomerular filtration rate, body mass index, and active smoking. CONCLUSIONS: Plasma copeptin may be a helpful surrogate for identifying individuals at higher risk for arterial disorders. TRIAL REGISTRATION:  ClinicalTrials.gov identifier NCT010497377.


Asunto(s)
Adrenomedulina , Biomarcadores , Diabetes Mellitus Tipo 2 , Glicopéptidos , Humanos , Glicopéptidos/sangre , Estudios Transversales , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/complicaciones , Masculino , Persona de Mediana Edad , Femenino , Biomarcadores/sangre , Anciano , Adrenomedulina/sangre , Factor Natriurético Atrial/sangre , Rigidez Vascular , Fragmentos de Péptidos/sangre , Análisis de la Onda del Pulso , Angiopatías Diabéticas/sangre , Angiopatías Diabéticas/diagnóstico , Angiopatías Diabéticas/fisiopatología , Precursores de Proteínas/sangre , Medición de Riesgo , Valor Predictivo de las Pruebas
7.
Am J Med Genet A ; 194(1): 46-52, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37608778

RESUMEN

We report compound heterozygous variants in TOE1 in siblings of Chinese origin who presented with dyskinesia and intellectual disabilities. Our report provides further information regarding the etiology and pathogenesis of pontocerebellar hypoplasia type 7 syndrome (PCH7). Clinical manifestations were obtained, and genomic DNA was collected from family members. Whole-exome and Sanger sequencing were performed to identify associated genetic variants. Bioinformatics analysis was conducted to identify and characterize the pathogenicity of the heterozygous variants. Following long-term rehabilitation, both siblings showed minimal improvement, and their condition tended to progress. Whole-exome sequencing revealed two unreported heterozygous variants, NM_025077: c.C553T (p.R185W) and NM_025077: c.G562T (p.V188L), in the TOE1 gene mapped to 1p34.1. Sanger sequencing confirmed that the two variants in the proband and her brother were inherited from their parents. The NM_025077: c.C553T (p.R185W) variant was inherited from the father, and the NM_025077: c.G562T (p.V188L) variant was inherited from the mother. Although the two variants in the TOE1 gene have not been reported previously, they were associated with PCH7 based on integrated analysis. Thus, our report contributes to our knowledge regarding the etiology and phenotype of PCH 7.


Asunto(s)
Enfermedades Cerebelosas , Discapacidad Intelectual , Humanos , Masculino , Femenino , Mutación , Discapacidad Intelectual/genética , China , Linaje , Proteínas Nucleares/genética
8.
Vasc Med ; 29(2): 153-162, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38469710

RESUMEN

INTRODUCTION: Maximal acceleration time of distal arteries of the foot (ATmax) is correlated to ankle-brachial index (ABI) and toe-brachial index (TBI), and seems very promising in diagnosing severe peripheral artery disease (PAD) and especially critical limb-threatening ischemia (CLTI). Our goal was to confirm the cut-off value of 215 ms to predict a toe pressure (TP) ⩽ 30 mmHg. METHODS: A 4-month retrospective study was conducted on patients addressed for suspicion of PAD. Demographic data, ABI, TBI, and Doppler ultrasound scanning parameters of the dorsal pedis and lateral plantar arteries (DPA and LPA) were recorded. RESULTS: A total of 137 patients with 258 lower limbs were included. ATmax was highly correlated to TBI (r = -0.89, p < 0.001). With the cut-off value of 215 ms, ATmax was effective to diagnose TP ⩽ 30 mmHg with a sensitivity of 93% [95% CI 77-99], a specificity of 96% [95% CI 92-98], a positive predictive value of 73% [95% CI 56-86], a negative predictive value of 99% [95% CI 97-100], and an area under the receiver operating characteristics curve of 0.99 [95% CI 0.98-1.00]. ATmax also showed promising results to rule out PAD in healthy patients. CONCLUSION: ATmax is a reliable diagnostic tool to diagnose low TP and could be a new easily performed hemodynamic criterion for diagnosis of CLTI.


Asunto(s)
Índice Tobillo Braquial , Enfermedad Arterial Periférica , Humanos , Estudios Retrospectivos , Enfermedad Arterial Periférica/diagnóstico por imagen , Arterias , Isquemia Crónica que Amenaza las Extremidades , Valor Predictivo de las Pruebas , Aceleración
9.
J Biomech Eng ; 146(4)2024 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-38183222

RESUMEN

This paper describes the development and evaluation of a novel, threshold-based gait event detection algorithm utilizing only one thigh inertial measurement unit (IMU) and unilateral, sagittal plane hip and knee joint angles. The algorithm was designed to detect heel strike (HS) and toe off (TO) gait events, with the eventual goal of detection in a real-time exoskeletal control system. The data used in the development and evaluation of the algorithm were obtained from two gait databases, each containing synchronized IMU and ground reaction force (GRF) data. All database subjects were healthy individuals walking in either a level-ground, urban environment or a treadmill lab environment. Inertial measurements used were three-dimensional thigh accelerations and three-dimensional thigh angular velocities. Parameters for the TO algorithm were identified on a per-subject basis. The GRF data were utilized to validate the algorithm's timing accuracy and quantify the fidelity of the algorithm, measured by the F1-Score. Across all participants, the algorithm reported a mean timing error of -41±20 ms with an F1-Score of 0.988 for HS. For TO, the algorithm reported a mean timing error of -1.4±21 ms with an F1-Score of 0.991. The results of this evaluation suggest that this algorithm is a promising solution to inertial based gait event detection; however, further refinement and real-time evaluation are required for use in exoskeletal control.


Asunto(s)
Marcha , Muslo , Humanos , Fenómenos Biomecánicos , Extremidad Inferior , Caminata , Algoritmos
10.
Vascular ; : 17085381241246309, 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38588174

RESUMEN

INTRODUCTION: Intermittent claudication includes a wide spectrum of peripheral artery disease ranging from asymptomatic with reduced perfusion to lifestyle-limiting atherosclerotic disease. The purpose of this study was to evaluate the management of claudicants with a low toe-brachial index (TBI). METHODS: This study was a retrospective review of consecutive patients that presented in 2015 with claudication and a low TBI (<0.6) monitored over 5 years. The patient demographics, co-morbidities, and vascular-related characteristics (ankle-brachial index, TBI, calcified vessels, and wounds) were collected. The patients were separated into two cohorts: diabetics and non-diabetics. The outcomes included progression to chronic limb threatening ischemia (CLTI), interventions (endovascular or open), minor amputations, major amputations, and mortality. RESULTS: A total of 184 patients with 356 limbs were identified as claudicants with a low TBI, and there were 103 diabetics with 81 non-diabetics. The ABI and TBI were similar between the diabetics and non-diabetics, but the diabetics had a significantly higher number of calcified vessels (p < .001) and progression to CLTI (p < .001). The time to revascularization and number of patients that had a revascularization procedure were similar between the two groups, and nearly half of the revascularization procedures were performed within the first 6 months. The major amputation rate trended higher in the diabetic population, and there was a statistically significantly higher rate of minor amputations in the diabetics over the 5 years (Log-rank, p < .001). There was no difference in 5-year survival between diabetics and non-diabetics, and the overall 5-year mortality was 34%. CONCLUSION: Patients presenting with claudication and low TBI, especially with diabetes, are at a higher risk to develop chronic limb threatening ischemia. Claudicants with a low TBI should have closer follow-up and more aggressive risk factor modification to reduce long-term mortality.

11.
J Hand Surg Am ; 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39217525

RESUMEN

PURPOSE: Parents of children with hypoplastic thumbs often reject the option of pollicization for various reasons and enquire about alternate choices. Our study aimed to assess the outcome in children who underwent nonvascularized toe phalanx transfer for Tonkin type 3B thumb hypoplasia and compare it with a similar cohort of children treated with pollicization. METHODS: At an average follow-up of 7 years for toe phalanx transfer and 6 years of pollicization, five children from each group were tested for thumb length, stability of the first carpometacarpal (CMC) joint, mobility, opposition, and donor-site morbidity. Parents were asked to report improvements in function and appearance. All cases were Tonkin type 3B thumb hypoplasia. RESULTS: The CMC joint was found to be stable in all children, and the Kapandji score was 6 in 3 children and 5 in 2 children with toe phalanx transfer compared to 9 in all children with pollicization. The average palmar abduction was 24°, and the average radial abduction was 36° in the toe phalanx transfer group compared to 40° and 45°, respectively, in children with pollicization. The average thumb length was 50.8% of the index finger's proximal phalanx in the toe phalanx group compared to 60 % in the pollicization group. The mean visual analog scale scores for the thumb's function and appearance were 6.8 and 6.4, respectively, compared to 9.2 and 8.8, respectively, in the pollicization group. No resorption was noted in the donor phalanx at a mean follow-up of 7 years with no donor-site morbidity other than mild shortening of the toes. CONCLUSIONS: We noted increased palmar abduction and radial abduction in the pollicization group. No resorption was noted in the donor toe phalanx at the longest follow-up of 9 years. Toe phalanx can be considered an alternative for those children in whom a five-finger hand is a priority. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

12.
J Hand Surg Am ; 49(4): 385.e1-385.e5, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38231171

RESUMEN

There is no standard technique for repairing degloving injuries of the fingertip. Nail bed flap transplantation is a common surgical technique to address this injury, but this procedure inevitably damages the donor site in the toe. This article describes a surgical technique that can restore the appearance of the injured fingernail and preserve the length and function of the injured finger without damaging the toenail.


Asunto(s)
Lesiones por Desenguantamiento , Traumatismos de los Dedos , Procedimientos de Cirugía Plástica , Humanos , Trasplante de Piel/métodos , Lesiones por Desenguantamiento/cirugía , Traumatismos de los Dedos/cirugía , Dedos del Pie/cirugía , Dermis/cirugía , Resultado del Tratamiento
13.
Sensors (Basel) ; 24(15)2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39123887

RESUMEN

Great toe strength (GTS) weakness is linked to declines in balance and mobility. Accurately assessing GTS, particularly great toe extension strength (GTES), is often neglected in clinical evaluations due to cumbersome and subjective methods. This study aims to characterize the force development curve output from the ToeScale and examine GTES variations with age, sex, BMI, and grip strength (GS) using traditional analyses and machine learning (ML). We conducted a pilot, cross-sectional feasibility study with convenience samples. We assessed GS using a hand-grip dynamometer and GTES using the ToeScale. The data analysis included descriptive statistics, correlations, independent samples t-tests, and accuracy and area under the curve (AUC) scores for three ML models. Thirty-one participants (males: 9; females: 22), 14 young (18-24 years) and 17 older (>65 years) adults, participated in the study. Males had significantly higher peak GTES than females in both age groups. The associations of GTES parameters with BMI and GS varied by age and sex. The ML model accuracies and AUC scores were low-moderate but aligned with traditional analyses. Future studies with larger samples and optimized ML models are needed.


Asunto(s)
Fuerza de la Mano , Dedos del Pie , Humanos , Masculino , Femenino , Dedos del Pie/fisiología , Adolescente , Fuerza de la Mano/fisiología , Adulto Joven , Anciano , Adulto , Estudios Transversales , Aprendizaje Automático , Fuerza Muscular/fisiología
14.
Int Orthop ; 48(3): 865-884, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37867166

RESUMEN

PURPOSE: This study conducts a comprehensive comparative analysis of bone pathologies between ancient Egypt and today. We aim to elucidate the prevalence, types, and potential aetiological factors influencing skeletal disorders in these two distinct temporal and cultural contexts. METHODS: The research employs a multidisciplinary approach, integrating osteological, paleopathological, and historical data to understand bone pathologies in mummies and the actual world. Applying radiographs and CT scans as noninvasive techniques has shed new light on past diseases such as fractures, dysplasia, osteoarthritis, surgery, and tuberculosis. Virtual inspection has almost replaced classical autopsy and is essential, especially when dealing with museum specimens. RESULTS: Findings indicate no significant disparities in the prevalence and types of bone pathologies through 4300 years of evolution. Moreover, this study sheds light on the impact of sociocultural factors on bone health. Examination of ancient Egypt's burial practices and associated cultural beliefs provides insights into potential behavioral and ritualistic influences on bone pathologies and the prevalence of specific pathologies in the past and present. CONCLUSION: This comparative analysis illuminates the dynamic of bone pathologies, highlighting the interplay of biological, cultural, and environmental factors. By synthesizing archeological and clinical data, this research contributes to a more nuanced understanding of skeletal health's complexities in ancient and modern societies, offering valuable insights for anthropological and clinical disciplines.


Asunto(s)
Momias , Ortopedia , Humanos , Antiguo Egipto , Momias/diagnóstico por imagen , Huesos , Radiografía
15.
J Foot Ankle Surg ; 2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39147358

RESUMEN

Persistent toe walking is associated with autism spectrum disorder. The true prevalence of persistent toe walking and odds of progression to surgery in children with and without autism remains unclear. This retrospective descriptive study identified patients ages 3 to 17 years who were enrolled in our healthcare system over a 2-year period. Using international classification of disease codes, we identified all children with autism and persistent toe walking, and excluded children with conditions that may independently cause toe walking. Data on Achilles lengthening surgeries, sex, race and body mass index was gathered. The toe walking prevalence amongst children with and without autism was calculated. Multivariable logistic regression analysis controlling for sex, race and body mass index was used to determine independent risk factors for persistent toe walking and surgery. Of the children who met inclusion criteria (N = 284,925), 4622 (1.6%) had persistent toe walking. Prevalence of persistent toe walking was higher amongst children with autism (6.3% vs 1.5%, p < .01), as were odds of persistent toe walking (OR 4.13, 95% CI 3.74 to 4.56, p < .01). Males and White patients had higher odds of persistent toe walking compared to females and patients of any other race, respectively (p < .01 for all). Although children with autism and toe walking had higher rates of surgery than their counterparts without autism (4.3% vs 2.6%, p = .04), this difference was not significant after controlling for sex, race and BMI (OR 1.59, 95% CI 0.95 to 2.69, p > .05).

16.
J Foot Ankle Surg ; 63(5): 598-602, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38909966

RESUMEN

Surgical methods for lateral ray polydactyly with brachydactyly of the foot include simple toe ablation and toe lengthening. However, there are few reports on comparative studies, and there is no standard treatment. We retrospectively investigated cases of lateral ray polydactyly with brachydactyly treated at our department and related facilities. In our study, the prevalence of Hirai-Togashi classification type IV was 8.8% (13/147 toes). Five patients did not request toe lengthening and underwent simple ablation, resulting in a shortened remaining toe in these 5 patients. The surgical methods for toe lengthening were pedicle bone grafting in 2 cases and on-top formation in 6 cases. Good results can be obtained in the most common phalangeal type cases, but care must be taken in cases with block-shaped metatarsal heads to avoid poor toe alignment.


Asunto(s)
Braquidactilia , Polidactilia , Dedos del Pie , Humanos , Polidactilia/cirugía , Estudios Retrospectivos , Masculino , Femenino , Dedos del Pie/anomalías , Dedos del Pie/cirugía , Braquidactilia/cirugía , Lactante , Preescolar , Resultado del Tratamiento , Trasplante Óseo/métodos
17.
J Foot Ankle Surg ; 63(1): 64-73, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37690498

RESUMEN

Radiographic measurements are frequently used to classify deformity and determine treatment options. Correlation coefficients can be used to determine inter- and intrarater reliability. Reliability is a required feature of any measurement if the measurement is to provide valid information. We calculated correlation coefficients for standard radiographic measurements used to categorize foot deformities: this was done for 52 sets of radiographs assessed by 5 raters. We aimed for generalizability, and kept rater instructions to match what was originally published for each measurement of interest with schematic illustration. Overall, our results mostly showed a lack of inter-rater reliability (correlation coefficients <0.4), and strong intrarater reliability (correlation coefficients >0.6), for 12 forefoot and 12 rearfoot radiographic measurements that are commonly used. The results of this investigation bring into question the routine use of radiographic measurements to categorize deformity, select treatments, and measure surgical outcomes, between surgeons, because the validity of these measurements appears to be threatened by weak inter-rater reliability. In order for these measurements to be considered useful, it may be necessary for surgeons to more rigorously define and practice making standard radiographic measurements.


Asunto(s)
Deformidades del Pie , Hallux Valgus , Humanos , Hallux Valgus/cirugía , Reproducibilidad de los Resultados , Pie/diagnóstico por imagen , Deformidades del Pie/diagnóstico por imagen , Deformidades del Pie/cirugía , Radiografía
18.
J Foot Ankle Surg ; 63(5): 513-516, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38777167

RESUMEN

First metatarsophalangeal arthrodesis is associated with high union rates but there is a wide range of union incidence reported. Whether the subchondral plate is completely resected, is not reported by individual studies and without meticulous care, there is often residual subchondral plate. The primary aim was to report our union rate following first metatarsophalangeal arthrodesis with complete resection of the subchondral plate, locking plate fixation and immediate protected weight bearing. A retrospective case study of 2 surgeons was performed from August 2016 to June 2023. Our study was unique in that all patients had complete resection of the subchondral plate to trabecular bone. One hundred seventeen feet were identified for analysis, in 112 patients following exclusion criteria. Patients were excluded if they had less than 3 months follow-up, revisional surgery or charcot. Demographic data and indications for the procedure were reported. A single construct locking plate with an interfragmentary compression screw through the plate was used in 37 feet and a locking plate with separate interfragmentary compression screw was used in 80 feet. We reported a nonunion incidence of 0.9% (n = 1) with a delayed union incidence of 0.9% (n = 1) and a broken hardware incidence of 0.9% (n = 1). Complete resection of subchondral plate with early weight bearing and locking plate fixation had a high union rate for first metatarsophalangeal arthrodesis. Our results compare favorably with union rates in the literature, where there is often residual subchondral plate.


Asunto(s)
Artrodesis , Placas Óseas , Articulación Metatarsofalángica , Humanos , Artrodesis/instrumentación , Artrodesis/métodos , Articulación Metatarsofalángica/cirugía , Estudios Retrospectivos , Femenino , Masculino , Persona de Mediana Edad , Anciano , Adulto , Hallux Valgus/cirugía , Anciano de 80 o más Años , Resultado del Tratamiento , Tornillos Óseos
19.
Int Wound J ; 21(7): e70002, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39041186

RESUMEN

Osteomyelitis (OM) in diabetic foot infection could have many presentations such as an infected ulcer spreading to the bone or superimposed to Charcot neuroarthropathy. However, the sausage toe as a diabetic OM presentation was very rarely investigated; therefore, this study aims to assess the prevalence and signs of this presentation along with treatment modalities and outcomes. This is a retrospective series of patients presenting a sausage toe on admission. Several methods were conducted to diagnose OM, and three treatment modalities were applied. Two groups were compared: acute and chronic sausage toes. Outcomes were defined as sausage toe prevalence, ulcer location, OM prevalence, and comparative treatment results. Out of 82 diabetic toe infection cases, 24 (30%) presented as 'sausage toe'. The side of the proximal interphalangeal joint of the lateral toes was the most frequent ulcer location (50%), mostly on the dorsal aspect followed by the side aspect. There were 15 (62.5%) acute cases and 9 (37.5%) chronic cases. MRI showed signs of OM in 21 (87.5%) cases and signs of septic arthritis in 3 (12.5%) cases. At the final follow-up, a successful treatment was recorded in five (20%) cases with antibiotics alone. Out of the 19 (42%) procedures, conservative surgery was performed successfully in 8 (58%) cases while amputation was needed in 11 (45.8%) cases. There was no significant difference in amputation frequency between acute and chronic groups. This is the first study documenting the sausage toe as a prevalent presentation of diabetic toe infection. The deformity is conclusive of deep infection with a very high osteomyelitis frequency. Surgery is often required for infection control and healing, mainly for chronic cases, and treatment outcomes did not differ between acute and chronic sausage toe groups. It could be beneficial to include this entity in the diabetic wound classification systems.


Asunto(s)
Pie Diabético , Osteomielitis , Dedos del Pie , Humanos , Estudios Retrospectivos , Masculino , Pie Diabético/epidemiología , Pie Diabético/terapia , Pie Diabético/diagnóstico , Femenino , Persona de Mediana Edad , Prevalencia , Anciano , Osteomielitis/epidemiología , Osteomielitis/terapia , Osteomielitis/diagnóstico , Adulto , Resultado del Tratamiento , Antibacterianos/uso terapéutico , Anciano de 80 o más Años
20.
Ann Dermatol Venereol ; 151(3): 103263, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39047654

RESUMEN

BACKGROUND: Toe-web (TW) intertrigo is a common disease of fungal or bacterial origin. Gram-negative bacterial (GNB) TW intertrigo consists of weeping, erosive, painful lesions that may be recurrent, leading to functional disability. Eczema is often associated with this condition. The management of intertrigo is poorly codified. OBJECTIVE: To evaluate the efficacy and safety of a standardized treatment plan using topical steroids in relation to the course and the frequency of recurrence of GNB-TW intertrigo. METHODS: We conducted a prospective open interventional multicentre study from June 2020 to June 2021. Standardised treatment using TCS together with follow-up via phone calls were performed over a 6-month period. In addition, a retrospective historical monocentric study was performed for patients with suspected TW-GNB intertrigo treated without standardized management. The primary endpoint was disease duration. We performed a Wilcoxon test to compare the median duration of GNB-TW intertrigo in both series. RESULTS: We included 13 patients in the prospective cohort and 14 in the retrospective cohort. In both cohorts, most patients were male with a median age of 59 years. The most frequent signs were fissures and exudates. Eczema was often associated (51.8%). Identified risk factors were psoriasis, local humidity, fungal intertrigo, vascular disease (arterial or venous insufficiency), and a history of multiple local treatments prior to diagnosis. Pseudomonas aeruginosa was the predominant pathogen (48.1%). Median durations of TW-GNB intertrigo were 56 days and 61 days. There was no significant difference in the median duration of the disease between the prospective and the retrospective cohorts (respectively61 days and 56 days; p > 0.58). Relapses were more frequent in the retrospective cohort (respectively 7.7% and 21.4%). CONCLUSION: GNB-TW intertrigo is a difficult-to-treat disease often associated with eczema. While topical corticosteroids (TCS) seem to be an effective and well-tolerated treatment they do not appear to reduce disease duration compared to other treatments.


Asunto(s)
Intertrigo , Humanos , Masculino , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Intertrigo/tratamiento farmacológico , Estudios Prospectivos , Anciano , Adulto , Dedos del Pie , Recurrencia , Infecciones por Bacterias Gramnegativas/tratamiento farmacológico , Eccema/tratamiento farmacológico
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