RESUMEN

BACKGROUND: During the last decade, arthroscopic procedures have been replacing open techniques in Haglund disease treatment because of their considerable advantages. Endoscopic calcaneoplasty is a technique that allows resection of posterosuperior calcaneal exostosis and retrocalcaneal bursitis. The objective of this article was to describe this technique and report its clinical and subjective outcome. METHODS: A retrospective study was performed of consecutive patients undergoing endoscopic Haglund resection surgery between July 2014 and March 2020 at a single academic institution. All patients were surveyed in person about the level of pain (visual analog scale), its location (central, lateral, medial or diffuse), its relation with rest, or physical activity. Clinical evaluation was assessed using the hindfoot scale designed by the American Orthopaedic Foot & Ankle Society (AOFAS). RESULTS: In this study, 14 endoscopic calcaneoplasties were performed in 14 patients, with an average follow-up of 40 months. The visual analog scale score improved from a preoperative average value of 9.07 to 1.8 after surgery (P > .0001). The AOFAS scale rose from 38.7 before surgery to 94.6 postoperative (P > .0001). Good subjective results were observed in 12 patients (85.7%), and all of them would have surgery again. There were no wound complications or infections. No patient required reoperation. CONCLUSION: In this relatively small cohort, we found that endoscopic calcaneoplasty was associated with good clinical and subjective results with few complications.

Asunto(s)

Calcáneo , Endoscopía , Humanos , Estudios Retrospectivos , Calcáneo/cirugía , Femenino , Masculino , Adulto , Persona de Mediana Edad , Endoscopía/métodos , Bursitis/cirugía , Resultado del Tratamiento , Exostosis/cirugía , Adulto Joven , Dimensión del Dolor , Artroscopía/métodos

RESUMEN

OBJECTIVE: In the presurgical evaluation of patients with drug-resistant epilepsy (DRE), occasionally, patients do not experience spontaneous typical seizures (STS) during a stereo-electroencephalography (SEEG) study, which limits its effectiveness. We sought to identify risk factors for patients who did not have STS during SEEG and to analyze the clinical outcomes for this particular set of patients. METHODS: We conducted a retrospective analysis of all patients with DRE who underwent depth electrode implantation and SEEG recordings between January 2013 and December 2018. RESULTS: SEEG was performed in 155 cases during this period. 11 (7.2%) did not experience any clinical seizures (non-STS group), while 143 experienced at least one patient-typical seizure during admission (STS group). No significant differences were found between STS and non-STS groups in terms of patient demographics, lesional/non-lesional epilepsy ratio, pre-SEEG seizure frequency, number of ASMs used, electrographic seizures or postoperative seizure outcome in those who underwent resective surgery. Statistically significant differences were found in the average number of electrodes implanted (7.0 in the non-STS group vs. 10.2 in STS), days in Epilepsy Monitoring Unit (21.8 vs. 12.8 days) and the number of cases that underwent resective surgery following SEEG (27.3% vs. 60.8%), respectively. The three non-STS patients (30%) who underwent surgery, all had their typical seizures triggered during ECS studies. Three cases were found to have psychogenic non-epileptic seizures. None of the patients in the non-STS group were offered neurostimulation devices. Five of the non-STS patients experienced transient seizure improvement following SEEG. SIGNIFICANCE: We were unable to identify any factors that predicted lack of seizures during SEEG recordings. Resective surgery was only offered in cases where ECS studies replicated patient-typical seizures. Larger datasets are required to be able to identify factors that predict which patients will fail to develop seizures during SEEG.

Asunto(s)

Epilepsia Refractaria , Epilepsia , Humanos , Estudios Retrospectivos , Resultado del Tratamiento , Electrodos Implantados/efectos adversos , Convulsiones/diagnóstico , Convulsiones/cirugía , Electroencefalografía , Epilepsia/cirugía , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/cirugía , Técnicas Estereotáxicas

RESUMEN

Calcaneal tendon injuries are extremely common in the general population and in orthopedics routine care. Its increasing incidence, which is motivated by an aging population, improved access to the health care system, increased prescription of continuous-use medication, erratic participation in sports and other factors, has had a direct impact on society. Consolidated treatment options for tendinopathies lack quality scientific support for many modalities. New therapies have emerged to enhance nonsurgical approach outcomes and to reduce the number of patients requiring surgery. Although these operative procedures provide good pain relief and functional outcomes, they are costly and may lead to complications.

RESUMEN

Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.

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Resumo Dois irmãos apresentaram características clínicas e bioquímicas do raquitismo, com suspeita clínica inicial de raquitismo hipofosfatêmico. Não houve melhora no início, portanto os irmãos foram reavaliados e, posteriormente, diagnosticados com raquitismo dependente de vitamina D (VDDR) tipo 1 devido a uma rara mutação no gene CYP27B1, que codifica a enzima 1a-hidroxilase. Ambos os irmãos melhoraram com a suplementação de calcitriol. A apresentação inicial do VDDR geralmente é confusa e a avaliação algorítmica ajuda no diagnóstico. Também apresentamos uma breve revisão da literatura, incluindo genética.

Asunto(s)

Humanos , Raquitismo Hipofosfatémico Familiar/diagnóstico , Raquitismo Hipofosfatémico Familiar/genética , 25-Hidroxivitamina D3 1-alfa-Hidroxilasa/genética , Vitamina D , Hermanos , Mutación

RESUMEN

Abstract Calcaneal tendon injuries are extremely common in the general population and in orthopedics routine care. Its increasing incidence, which is motivated by an aging population, improved access to the health care system, increased prescription of continuous-use medication, erratic participation in sports and other factors, has had a direct impact on society. Consolidated treatment options for tendinopathies lack quality scientific support for many modalities. New therapies have emerged to enhance nonsurgical approach outcomes and to reduce the number of patients requiring surgery. Although these operative procedures provide good pain relief and functional outcomes, they are costly and may lead to complications.

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Resumo As afecções que acometem o tendão calcâneo são extremamente comuns na população geral e no cotidiano da atenção ortopédica. Sua crescente incidência, motivada pelo envelhecimento da população, pela melhora no acesso à saúde, pelo aumento na utilização de drogas de uso contínuo, pela errática participação esportiva e outros fatores, tem causado impacto direto na sociedade. As tendinopatias, ainda que hoje respaldadas por tratamentos consolidados, carecem de suporte científico de qualidade para muitas das suas recomendações. Novas terapêuticas têm surgido com o objetivo de potencializar o resultado da abordagem não-operatória e diminuir a quantidade de pacientes que necessitam de uma cirurgia. Esses procedimentos operatórios apresentam uma boa resposta álgica e funcional dos pacientes, no entanto não são livres de complicações e dos altos custos que os cercam.

Asunto(s)

Dolor , Tendón Calcáneo , Deportes , Procedimientos Quirúrgicos Operativos , Envejecimiento , Enfermedad Aguda , Incidencia , Costos y Análisis de Costo , Atención a la Salud , Tendinopatía

RESUMEN

Background. The usual initial treatment for insertional Achilles tendinopathy is nonsurgical. Yet there is no standard conservative treatment for Achilles insertional tendinopathy. Shockwave therapy (SWT) has become a reliable option for the management of this illness over the past years. The aim of this study is to report the effectiveness of low-energy SWT associated with an eccentric strengthening protocol in 19 consecutive patients. Methods. This is a prospective study with 19 patients aged between 26 and 72 years diagnosed with insertional Achilles tendinopathy. The protocol consisted of SWT associated with eccentric exercises for 12 weeks. All patients were evaluated on the first day and after 24 weeks (final follow-up) with the Victorian Institute of Sports Assessment-Achilles (VISA-A) score, visual analogue scale (VAS), American Orthopaedic Foot and Ankle Society (AOFAS) questionnaire, and by algometry. At the last follow-up, patients were also assessed for adherence to the protocol, complications and final outcome (in their perception as success or fail). Results and Conclusion. Fifteen (79%) patients were fully adherent to the Alfredson protocol, and 13 (68%) patients considered the treatment protocol successful. At the last evaluation, patients demanded higher pressure on calcaneus to trigger pain (algometry 1), reported less pain when the algometer was applied with 3 kg (algometry 2), had less global pain (VAS), and had higher AOFAS and VISA-A scores. This study evidences that eccentric loading associated with SWT can dramatically improve patients' symptoms. We can conclude that eccentric loading associated with SWT is an effective treatment for Achilles insertional tendinopathy. Levels of Evidence: Therapeutic, Level III: Prospective cohort.

Asunto(s)

Tendón Calcáneo , Tratamiento con Ondas de Choque Extracorpóreas , Ondas de Choque de Alta Energía , Tendinopatía/terapia , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Resultado del Tratamiento

RESUMEN

Calcific insertional Achilles tendinopathy (CIAT) is a relatively common musculoskeletal entity that results in significant pain and disability, as well as posterior muscle group weakness. There is a lack of evidence criteria to support the timing of operative intervention, choice of procedures, or whether equinus requires treatment. The purpose of this study was to retrospectively review 45 patients (48 feet) who have undergone surgical management of CIAT with concomitant posterior muscle group weakness with the single heel rise testing. All patients underwent debridement and repair of the Achilles tendon with reattachment of the Achilles tendon to the calcaneus, ostectomy of the calcaneus, and flexor hallucis longus tendon transfer. Those patients with equinus also underwent gastrocnemius recession. The focus includes patient-reported satisfaction, time to return to normal shoe gear, and the incidence of revision surgery. The overall average of time to weightbearing was 4.3 weeks. After surgery, 73.3% (n = 33) of the 45 patients responded to the following question: "Would you have this surgery done again?" Of these patients, 93.9% (n = 31) responded "Yes" and 6.1% (n = 2) responded "Unsure." Of the same 33 patients, 84.8% (n = 28) responded that they were "Very Satisfied" with the procedure and 15.2% (n = 5) responded that they were "Satisfied." Twelve patients (26.7%) did not respond to either question. One of the 12 patients (8.3%) who did not respond had bilateral procedures. None of the patients experienced tendon rupture, deep vein thrombosis, or the need for revision surgery. Four patients (8%) experienced a superficial infection, whereas 1 patient (2%) had development of a deep infection. No correlations were found when looking at the relationship between body mass index and return to weightbearing/normal shoe gear with Spearman analysis.

Asunto(s)

Tendón Calcáneo/cirugía , Calcinosis/cirugía , Imagen por Resonancia Magnética/métodos , Satisfacción del Paciente , Tendinopatía/cirugía , Transferencia Tendinosa/métodos , Tendón Calcáneo/diagnóstico por imagen , Tendón Calcáneo/fisiopatología , Adulto , Anciano , Calcáneo/cirugía , Calcinosis/diagnóstico por imagen , Calcinosis/fisiopatología , Estudios de Cohortes , Terapia Combinada/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tempo Operativo , Osteotomía/métodos , Cuidados Posoperatorios/métodos , Cuidados Preoperatorios/métodos , Estudios Retrospectivos , Factores de Riesgo , Tendinopatía/diagnóstico por imagen , Tendinopatía/fisiopatología , Resistencia a la Tracción , Resultado del Tratamiento

RESUMEN

BACKGROUND: There is no consensus regarding the treatment of Achilles insertional tendinopathies. Eccentric training remains the main choice in the conservative treatment of this illness; however, the good results in the management of non-insertional Achilles tendinopathy were not replicated in the insertional condition. Low energy shock wave therapy has been described as an alternative to these patients, but has yet to be empirically tested. HYPOTHESIS: Shock wave therapy, adjunctive to the eccentric strengthening protocol, will improve measures of pain and function. DESIGN: Double blind, placebo-controlled, parallel groups, randomised clinical trial. MATERIALS AND METHODS: 93 patients with a diagnosis of chronic insertional tendinopathy, referred from primary or secondary healthcare services, will be assessed and enrolled in this study. They will be divided into two groups (randomised by sequentially numbered identical envelopes, which will be administered serially to participants), one containing the combination of low energy shock wave and eccentric exercises, as treatment and the other comprehending the exercises and the placebo treatment (an apparatus placed in the therapeutic head). The assessments will occur in 2, 4, 6, 12 and 24 weeks. Patients will be evaluated primarily by the Victorian Institute of Sport Assessment-Achilles questionnaire and secondarily by the visual analogue scale, Algometry, the American Orthopedic Foot and Ankle Society scale, the Foot and Ankle Outcome Score and the 12-item Short Form Health Survey. We will use comparison of two proportions via relative frequency analysis, the Pearson Correlation the χ2 test and the analysis of variance for statistical analyses. DISCUSSION: This study intends to demonstrate if the association of the eccentric exercise programme with the shock wave therapy can produce good results regarding the treatment of the Achilles insertional tendinopathy. In an attempt to prevent the high costs and complications associated with the surgical intervention, we will try to prove this combination as a viable therapeutic option in the conservative management of this prevalent condition. The strengths of the study are the design and the novelty of the combination of methods. The main limitation is the short follow-up course. ETHICS AND DISSEMINATION: The study is registered in the Clinical Trials database (protocol number: 8094833648737701) and was approved by the University Ethics Committee (number: 1373481). TRIAL REGISTRATION NUMBER: 8094833648737701 (NCT02757664); Pre-results.

Asunto(s)

Tendón Calcáneo , Tratamiento con Ondas de Choque Extracorpóreas/métodos , Entrenamiento de Fuerza/métodos , Tendinopatía/rehabilitación , Analgésicos/uso terapéutico , Enfermedad Crónica , Crioterapia , Método Doble Ciego , Humanos , Resultado del Tratamiento

RESUMEN

Agrobacterium-mediated gene transfer (AMT) is extensively employed as a tool in fungal functional genomics and accordingly, in previous studies we used AMT on a dikaryotic strain of the ectomycorrhizal basidiomycete Laccaria bicolor. The interest in this fungus derives from its capacity to establish a symbiosis with tree roots, thereby playing a major role in nutrient cycling of forest ecosystems. The ectomycorrhizal symbiosis is a highly complex interaction involving many genes from both partners. To advance in the functional characterization of fungal genes, AMT was used on a monokaryotic L. bicolor. A collection of over 1200 transgenic strains was produced, of which 200 randomly selected strains were analyzed for their genomic T-DNA insertion patterns. By means of insertional mutagenesis, a number of transgenic strains were obtained displaying differential growth features. Moreover, mating with a compatible strain resulted in dikaryons that retained altered phenotypic features of the transgenic monokaryon. The analysis of the T-DNA integration pattern revealed mostly similar results to those reported in earlier studies, confirming the usefulness of AMT on different genetic backgrounds of L. bicolor. Taken together, our studies display the great versatility and potentiality of AMT as a tool for the genetic characterization of L. bicolor.

Asunto(s)

Agrobacterium/genética , Laccaria/genética , Mutagénesis Insercional , Micorrizas/genética , Secuencia de Bases , Sitios de Unión/genética , Southern Blotting , ADN Bacteriano/genética , ADN de Hongos/genética , Proteínas Fúngicas/genética , Genoma Fúngico/genética , Análisis de Secuencia de ADN , Simbiosis , Transformación Genética

RESUMEN

Insertional mutagenesis is an important tool for functional genomics in Drosophila melanogaster. The insertion site in the KG00562 mutant fly line has been mapped to the CG8709 (herein named DmLpin) locus and to the 3’ of kermit (also called dGIPC). This mutant line presents a high lethality rate resulting from a gain of function. To obtain some insight into the biological role of the mutated locus, we have characterized the mutation and its relation to the high mortality of the KG00562 fly line. In this mutant, we did not detect one of the DmLpin transcripts, namely DmLpinK, but we did detect an unusual 2.3-kb mRNA (LpinK-w). Further investigation revealed that the LpinK-w transcript results from an aberrant splicing between the untranslated first exon of DmLpinK and the mini-white marker gene. Lack of DmLpinK or LpinK-w expression does not contribute to lethality, since heterozygous KG00562/Def7860 animals presented lethality rates comparable to those of the wild type. In contrast, the overexpression of kermit was associated with lethality of the KG00562 fly line. Significantly higher levels of kermit were detected in the Malpighian tubules of KG00562/+ flies that presented higher lethality rates than wild-type or KG00562/Def7860 animals, in which the lethality was rescued. In agreement with a recently reported study, our data support the hypothesis that misexpression of kermit/dGIPC could interfere with Drosophila development, with further investigations being needed in this direction.

Asunto(s)

Animales , Proteínas Portadoras/genética , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Expresión Génica/genética , Mutación/genética , Transcripción Genética/genética , Proteínas Portadoras/metabolismo , Proteínas de Drosophila/metabolismo , Túbulos de Malpighi/química , Fenotipo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transformación Genética

RESUMEN

Proper morphology is essential for the ability of Candida albicans to switch between yeast and hyphae and thereby sustain its virulence. Here we identified, by differential screening, a novel C. albicans AAA ATPase encoding gene, CaYLL34 (RIX7), with enhanced expression in hyphae. Phylogenetic analysis suggests that CaYLL34 belongs to a [quot ]VCP-like[quot ] subgroup of AAA ATPases essential for yeast viability and contains a bipartite nuclear localization signal. Inactivation of one copy of CaYLL34, by the URA-Blaster method, generated the heterozygous mutant strain M61. This strain has severe phenotypic alterations, such as a highly increased vacuole, abnormal cell shape and reduced growth in different conditions. Also, major pathogenicity factors are affected in M61, for instance, a significant decrease of hypha formation (>90%), surface biofilm adhesion (86%) and secreted aspartyl proteinase activity (76.5%). Our results show that the partial impairment of CaYll34p cellular levels is sufficient to affect the proper cellular morphology and pathogenicity factors and suggest that this protein is required for biogenesis of ribosomal subunits. Accordingly, we propose that the product of CaYLL34 could be tested as a novel target for antifungal drugs.

Asunto(s)

Adenosina Trifosfatasas/genética , Biopelículas/crecimiento & desarrollo , Candida albicans/genética , Ácido Aspártico Endopeptidasas/metabolismo , Proteínas de Saccharomyces cerevisiae/genética , Secuencia de Bases , Candida albicans/enzimología , Candida albicans/crecimiento & desarrollo , Hifa/enzimología , Hifa/genética , Hifa/crecimiento & desarrollo , Datos de Secuencia Molecular , Mutación , Filogenia , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADN