RESUMEN
The visualization of sequence alignments with the addition of meaningful shading and annotation is critical to convey the importance of structural elements, domains, motifs, and individual residues. Hence, we have developed a JavaFX based software package (SlimShadey) with an intuitive graphical user interface that allows for the creation and visualization of features on sequence alignments, as well as trimming and editing of subsequences. SlimShadey will run without modification on Windows 7 (or higher) and will also run on OS X / macOS, most Linux distributions, and servers. SlimShadey features real-time shading and comparison of residues based on user-defined measures of conservation such as frequency, user-selected substitution matrices, composition-based consensus sequence, regular expressions, and hidden Markov models. The software also allows users to generate custom sequence logos, configurable publication quality images of alignments with shading and annotation, and shareable self-contained project files for collaboration. SlimShadey is an open source freely available Java program. Compiled .jar executables, source code, supplementary materials including the user manual, links to video tutorials, and all sample data are available through the URLS at availability.
RESUMEN
Introduction: Hereditary multiple exostoses (HME) Masada IIB has traditionally been treated by gradual ulnar lengthening with questionable efficacy in reducing the dislocated head. One-bone forearm (OBF) has been used as a reconstructive procedure in forearm deformities with very scarce literature for HME. The study aims to report short-term results of OBF as a definitive procedure for severe forearm deformities in Masada IIB patients with respect to clinical and radiological parameters. Materials and Methods: Four patients with HME Masada IIb were included in this retrospective study. All patients complained of forearm and wrist deformity with an abnormal bony protrusion restricting elbow motion. Indications for OBF were ulnar shortening > 3 cm, dysplastic proximal radius with convex radial head and restricted prono-supination. All patients were examined pre-operatively and post-operatively clinically and radiographically using the Peterson's outcome score. Results: The average age was 13 years (12-14 years). Pre-operative ulnar shortening, carpal slip percentage, and radial articular angle was 3.4 cm, 79.5%, and 47.5°, respectively. All radial heads were dislocated with convex articular surface restricting elbow extension and forearm prono-supination. At the latest follow-up, the mean elbow flexion was 110° with forearm in 10° supination. The mean carpal slip percentage, radial articular angle, and Peterson functional grade was 15%, 22.5°, and 8 points, respectively. The mean follow-up period was 30.25 months with no recurrence. Conclusion: We recommend one bone forearm as a definitive procedure in HME Masada IIB patients with severe forearm deformities with ulnar shortening > 3 cm and dysplastic proximal radius with a dislocated radial head, for faster return to function.
RESUMEN
H37Rv is the most widely used Mycobacterium tuberculosis strain, and its genome is globally used as the M. tuberculosis reference sequence. Here, we present Bact-Builder, a pipeline that uses consensus building to generate complete and accurate bacterial genome sequences and apply it to three independently cultured and sequenced H37Rv aliquots of a single laboratory stock. Two of the 4,417,942 base-pair long H37Rv assemblies are 100% identical, with the third differing by a single nucleotide. Compared to the existing H37Rv reference, the new sequence contains ~6.4 kb additional base pairs, encoding ten new regions that include insertions in PE/PPE genes and new paralogs of esxN and esxJ, which are differentially expressed compared to the reference genes. New sequencing and de novo assemblies with Bact-Builder confirm that all 10 regions, plus small additional polymorphisms, are also present in the commonly used H37Rv strains NR123, TMC102, and H37Rv1998. Thus, Bact-Builder shows promise as an improved method to perform accurate and reproducible de novo assemblies of bacterial genomes, and our work provides important updates to the primary M. tuberculosis reference genome.
Asunto(s)
Mycobacterium tuberculosis , Tuberculosis , Humanos , Mycobacterium tuberculosis/genética , Genoma Bacteriano/genética , Polimorfismo Genético , Tuberculosis/genéticaRESUMEN
BACKGROUND CONTEXT: The emergence of drug resistance has complicated the management of spinal tuberculosis (TB). While it is well known that the medical management of drug-resistant spinal TB is more difficult, the surgical outcomes of the same have not been studied sufficiently, particularly in children. PURPOSE: To analyze the surgical outcomes in a cohort of children treated for spinal TB, and to thus assess whether drug resistant (DR) disease is associated with poorer surgical outcomes. STUDY DESIGN/SETTING: Retrospective observational study. PATIENT SAMPLE: All children diagnosed and treated for tuberculous spondylodiscitis at a single center between January 2014 and June 2017. OUTCOME MEASURES: Surgical outcomes in terms of neurological status and kyphosis angle at final follow-up, and complication rates. METHODS: Radiographic and clinical data of children treated for spinal TB with minimum two-year follow-up were retrospectively analyzed. Data gathered included age, gender, level of spine affected, number of vertebrae involved, neurology (Frankel grade), microbiological reports, duration and type of anti-tuberculous therapy (ATT), details of Orthopaedic management and complications during treatment. In DR cases, the time from presentation to starting of second-line ATT was also assessed. Radiographs were reviewed to note the pre- and post-operative degree of kyphosis as well as the angle at final follow-up. Patients that developed major complications were compared statistically with those that did not. RESULTS: Forty-one consecutive children (mean age 8.5 ± 4.2 years, 20 boys, 21 girls) were treated for spinal TB with a mean follow-up of 31.2 ± 6.4 months. Fifteen were managed conservatively, of which only one had DR-TB. Of the 26 managed surgically, 13 were managed with first-line ATT and 13 required second-line ATT. Of this latter group, eight had microbiologically proven drug resistance, whereas five were switched to second-line therapy presumptively because of failure to show an adequate response to first-line regimen. At last follow-up, all children had completed the prescribed course of ATT and had been declared cured. Neurological improvement was seen in all but one patient; and at last follow-up, 18 children were Frankel E, seven were Frankel D, and one was Frankel B. 1The immediate post-operative Kyphosis angle averaged 24.38° ± 15.21°. However, six children showed a subsequent worsening of kyphosis, and the Kyphosis angle at last follow-up averaged 30.96° ± 23.92°. Five children had major complications requiring revision surgery; complications included wound dehiscence, vertebral collapse, screw pull-out and implant breakage. Significantly higher number of patients in the group with complications had required second-line ATT (p < .05). CONCLUSIONS: In a cohort of children treated surgically for spinal tuberculosis, a higher complication rate, and thus poor surgical outcomes, were found to be associated with drug resistant disease.
Asunto(s)
Cifosis , Fusión Vertebral , Tuberculosis de la Columna Vertebral , Niño , Preescolar , Resistencia a Medicamentos , Femenino , Humanos , Cifosis/diagnóstico por imagen , Cifosis/tratamiento farmacológico , Cifosis/cirugía , Masculino , Estudios Retrospectivos , Columna Vertebral/diagnóstico por imagen , Columna Vertebral/cirugía , Resultado del Tratamiento , Tuberculosis de la Columna Vertebral/diagnóstico por imagen , Tuberculosis de la Columna Vertebral/tratamiento farmacológico , Tuberculosis de la Columna Vertebral/cirugíaRESUMEN
BACKGROUND: Computed tomography (CT) images provided by the radiology department may be inadequate for planning screws for rigid craniovertebral junction (CVJ) instrumentation. Although many recommend using multiplanar reconstruction (MPR) in line with screw trajectories, this is not always available to all surgeons. The current study aims to present a step-by-step workflow for preoperative planning for pediatric CVJ anomalies. METHODS: Twenty-five consecutive children (<12 years) were operated for atlantoaxial instability between 2014 and 2019. Preoperative CT angiograms were transferred to an open-source software called Horos™. The surgeon manipulated images in this viewing software to determine an idealized path of screws. Three-dimensional volume rendering of the pathoanatomy was generated, and anomalies were noted. The surgeon compared the anatomical data obtained using Horos™ with that from the original imaging platform and graded it as; Grade A (substantial new information), Grade B (confirmatory with improved visualization and understanding), Grade C (no added information). The surgeon then executed the surgical plan determined using Horos™. RESULTS: Surgeries performed were occipitocervical (n = 18, 72%) and atlantoaxial fixation (n = 7, 28%) at a mean age of 7.2 years, with 72% of etiologies being congenital or dysplasias. In 18 (72%) patients, the surgeon noted substantial new information (Grade A) about CVJ anomalies on Horos™ compared to original imaging platform. Concerning planning for fixation anchors, the surgeon graded A in all patients (100%). In 4 (16%) patients, the surgery could not be executed precisely as planned. There were three (12%) complications; VA injury (n = 1), neurological worsening (n = 1), and loss of fixation (n = 1). CONCLUSION: In our experience, surgeon-directed imaging manipulation gives more anatomical information compared to studying original imaging planes and should be incorporated in the surgeon's preoperative workup. When image reformatting options are limited, open-source software like Horos™ may offer advantages.
RESUMEN
PURPOSE: To analyse the results of the Ponseti method in the treatment of non-idiopathic clubfeet and compare them with idiopathic clubfeet in a programme-based setting using a standardized protocol METHODS: We reviewed two groups of 782 children treated prospectively in our programme-based Clubfoot Clinic: group I comprised of 89 patients (146 feet) with non-idiopathic clubfoot and group II comprised of 693 patients (1032 feet) with idiopathic clubfoot. Both groups were compared on the basis of patient demographics, number of casts, tenotomy rate, success rate, rate of recurrences, and the need for additional secondary procedures. RESULTS: Non-idiopathic clubfeet had a higher incidence of bilateral involvement (p = 0.0093) and affected both males and females equally (p = 0.002) as compared with idiopathic clubfeet. Non-idiopathic clubfeet (group I) required significantly more casts (6.75 ± 4.2) compared with idiopathic clubfeet (4.23 ± 4.14), had a higher rate of Achilles tenotomy (90.4% vs 75%, p < 0.0001), and had a lower initial correction rate compared with idiopathic clubfeet (92.5% vs 100%, p < 0.0001). There was a significant difference in the recurrence rates between the two groups, as 42.5% of non-idiopathic feet (38 patients) relapsed compared with 10.2% (71 patients) in the idiopathic group (p < 0.0001). Most recurrences in group I were amenable to re-casting, with only nine patients (14 non-idiopathic clubfeet) requiring extensive soft tissue releases. The final success rate in the non-idiopathic group at a mean follow-up of 5.8 years (2-8 years) was 87.7%. CONCLUSIONS: We recommend the use of the Ponseti method as an effective treatment for non-idiopathic clubfeet associated with neuromuscular and syndromic conditions.
Asunto(s)
Tendón Calcáneo , Pie Equinovaro , Tendón Calcáneo/cirugía , Moldes Quirúrgicos , Niño , Pie Equinovaro/epidemiología , Pie Equinovaro/terapia , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Recurrencia , Estudios Retrospectivos , Tenotomía , Resultado del TratamientoRESUMEN
PURPOSE: Sprengel shoulder, Klippel-Feil syndrome and congenital scoliosis are associated conditions. Cervical myelopathy in a child due to a concomitant omovertebral bar causing posterior cord compression and a hypermobile cervical disc protrusion adjacent to fused cervical segments causing anterior compression at the same level is very rare. We report the presentation, findings, surgical management and results of treatment in such a child. METHODS: A 9-year-old girl with Sprengel shoulder presented with cervical myelopathy (Frankel D). Imaging revealed a bony omovertebral bar connected to the left scapula compressing the spinal cord posteriorly through a lamina defect at C5 resulting in significant cervical stenosis. A hypermobile disc protrusion adjacent to congenitally fused segments resulted in anterior compression at the same level. She was treated surgically with cervical laminectomy and instrumented fusion, excision of the omovertebral bar and modified Woodward procedure for the left Sprengel shoulder. RESULTS: At 2 year follow-up, she had improved neurologically (Frankel E) and there was improved shoulder symmetry and abduction. MRI showed resolution of cervical stenosis. Although there was no significant progression of congenital scoliosis, it will need to be monitored. CONCLUSIONS: Cervical myelopathy due to an omovertebral bar and cervical disc protrusion in a child with Klippel-Feil syndrome and Sprengel shoulder is a rare presentation and can be treated with a single posterior approach addressing both pathologies.
Asunto(s)
Síndrome de Klippel-Feil , Compresión de la Médula Espinal , Enfermedades de la Médula Espinal , Niño , Femenino , Humanos , Síndrome de Klippel-Feil/complicaciones , Síndrome de Klippel-Feil/diagnóstico por imagen , Síndrome de Klippel-Feil/cirugía , Escápula , Hombro , Compresión de la Médula Espinal/diagnóstico por imagen , Compresión de la Médula Espinal/etiología , Compresión de la Médula Espinal/cirugía , Enfermedades de la Médula Espinal/complicaciones , Enfermedades de la Médula Espinal/diagnóstico por imagenRESUMEN
Patellar instability is common in the second decade, and genu valgum is a risk factor for patellar instability. In skeletally immature patients, genu valgum can be gradually corrected using less-invasive, well-established, growth-modulation techniques. For skeletally immature patients with patellar instability and genu valgum, it would be desirable to address both instability and deformity. We describe our technique of physeal-respecting medial patellofemoral ligament reconstruction in skeletally immature patients using hamstring autograft and simultaneous transphyseal screw hemiepiphysiodesis to gradually correct genu valgum. The medial patellofemoral ligament reconstruction technique features posteromedial hamstring graft harvest, single patellar tunnel fixation without implant, and femoral attachment just below the distal femoral physis. The technique of growth modulation features percutaneous insertion of a single transphyseal screw through the distal medial femoral physis without interference with medial patellofemoral ligament graft placement. Our preliminary results have been encouraging with successful correction of genu valgum and satisfactory patellar stabilization without growth disturbances.
RESUMEN
BACKGROUND: Various treatment modalities are available for the correction of crouch gait, ranging from hamstring lengthening to a combination of soft-tissue and bony procedures. We report the results of distal femoral extension osteotomy (DFEO) fixed with 90° pediatric condylar locking compression plate (LCP) and patellar tendon advancement (PTA) for crouch gait in children with cerebral palsy. MATERIALS AND METHODS: A total of 26 patients (52 knees) with a mean age of 14.36 years (range 11.6-20 years) who presented with crouch gait were treated with DFEO and PTA. Patients were analyzed prospectively using clinical (knee flexion deformity, knee range of motion, extensor lag), functional (modified Ashworth, Tardieu scores, muscle strength, gross motor functional classification system [GMFCS], functional mobility scale [FMS], gross motor functional measure [GMFM]) and radiological (Koshino Index) outcome measures and followed up at a mean of 22 months (range 12-53 months). RESULTS: There was an improvement in all outcome measures postoperatively, with improved function and independence. The mean knee flexion deformity improved significantly from 20.7° ± 6.59 to 0.67° ± 2.62, mean muscle strength of quadriceps improved from 3.01 ± 0.5 to 3.5 ± 0.54 and mean extensor lag improved from 20° ± 7.14 to 4.13° ± 4.16. The mean Koshino Index improved from 1.4 ± 0.16 to 1.0 ± 0.08. The mean GMFM-D improved from 15.58 ± 6.2 to 26.31 ± 5.8 and mean FMS for 5 m improved from 2.9 ± 1.09 to 3.6 ± 0.84, indicating significant improvement in household ambulation. There were four complications; transient peroneal nerve palsy in 3 patients, which recovered completely and 1 superficial wound dehiscence. There was no loss of fixation, tendon pull-out or deep infection. CONCLUSION: The combined procedure of DFEO and PTA can correct knee flexion deformity, restore knee extensor strength, and improve function in patients with crouch gait. The pediatric condylar LCP provides stable fixation to allow early mobilization and faster rehabilitation.
RESUMEN
The Ponseti method is well-established for the treatment of clubfoot in younger babies; however, its effectiveness in older children is still unclear. The aim of our study was to report our results of the 'traditional' Ponseti method in the management of clubfoot in children of walking age. A total of 56 (81 clubfeet) children with a mean age of 3.16±2.35 years (1-10 years) were divided into two groups: group I consisted of 12 (18 clubfeet) patients with a mean age of 3.36±2.7 years (range: 1-8.4 years) who presented with an untreated clubfoot whereas group II consisted of 44 (63 clubfeet) patients with a mean age of 3.19±2.34 years (range: 1-10 years) who presented with a recurrent clubfoot. All children underwent the standard manipulation and casting technique described by Ponseti, including a percutaneous tenotomy of the Tendo Achilles. The bracing protocol was modified appropriately. All feet corrected with a mean of 7.36 (3-17) casts in group I and 4.49 (1-12) casts in group II. All children in group I and 70.45% in group II underwent a percutaneous Tendo Achilles tenotomy. There was a statistically significant change between the pretreatment and post-treatment Pirani scores in both groups. Nineteen (30.86%) patients underwent relapse at a mean follow-up of 2.84±1.25 years (1.2-5.4 years), who were treated by re-casting, bracing and tibialis anterior tendon transfer. The Ponseti method is effective even in walking age children upto the age of 10 years with a good success rate, although approximately one-third of the clubfeet relapsed and needed further treatment. No modifications to the standard casting protocol are required. Despite a high relapse rate, a supple, plantigrade and pain-free foot is achievable without the need for extensive soft-tissue surgeries or bony procedures. The Ponseti method lends itself well to developing a nation-wide program for clubfoot treatment in countries with limited resources. Level of Evidence: Level III.
Asunto(s)
Moldes Quirúrgicos/tendencias , Pie Equinovaro/diagnóstico por imagen , Pie Equinovaro/cirugía , Procedimientos de Cirugía Plástica/tendencias , Caminata/fisiología , Niño , Preescolar , Pie Equinovaro/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Prospectivos , Procedimientos de Cirugía Plástica/métodos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
CASE: Congenital aplasia or hypoplasia of the patella by itself is a rare condition; to our knowledge, it has been associated with aplasia of the quadriceps mechanism only 3 times in the literature. We describe a 5-year-old boy who had bilateral fixed flexion deformity of the knee as well as bilateral hypoplasia of the patella and quadriceps mechanism; he never had been able to stand upright and walk. We present the clinical and radiographic features, the surgical details, and the successful outcome after treatment. CONCLUSION: Corrective femoral osteotomies with soft-tissue reconstruction to provide active knee extension provided a satisfactory outcome. At the last follow-up, the child was walking without support and had good active knee extension.
Asunto(s)
Deformidades Congénitas de las Extremidades Inferiores/cirugía , Procedimientos Ortopédicos/métodos , Rótula/anomalías , Músculo Cuádriceps/anomalías , Preescolar , Humanos , MasculinoRESUMEN
CASE: We report the case of a patient with a long-standing and progressive forearm deformity, secondary to underlying hereditary multiple exostoses (HME). A salvage surgery was performed with excision of the pathologic parts of the radius and the ulna, followed by the creation of a 1-bone forearm. CONCLUSION: One of the common manifestations of HME is forearm deformity due to abnormal ossification and osteochondromas that affect the radius and/or the ulna. Progressive deformity can lead to increasing pain, joint instability, limited motion, and functional decline. Neglected or recalcitrant deformities pose a treatment challenge. At 1.5 years after surgery, the patient had a satisfactory outcome with a fully functional, pain-free forearm in a fixed, neutral position.
Asunto(s)
Exostosis Múltiple Hereditaria/complicaciones , Antebrazo/anomalías , Antebrazo/cirugía , Adolescente , Exostosis Múltiple Hereditaria/cirugía , Humanos , Masculino , Procedimientos Ortopédicos/métodosRESUMEN
Alcohol use disorder (AUD) or alcoholism is a chronic relapsing disorder. Our knowledge of alcoholism hinges on our understanding of its effects on the brain. This review will center on the effects of alcohol in the lateral habenula (LHb), an epithalamic structure that connects the forebrain with the midbrain and encodes aversive signaling. Like many addictive drugs, alcohol has both rewarding and aversive properties. While alcohol's euphoric property is believed to be important for the initiation of drinking, increasing evidence suggests that alcohol's negative affect plays a critical role in excessive drinking and alcohol dependence. During withdrawal and abstinence, alcoholics often experience anxiety and depressions, both of which have been implicated in relapse drinking. This review focuses on the recent accumulation of knowledge about the effects of acute and chronic alcohol exposure on the activity of and synaptic transmissions on LHb neurons, as well as the effects of manipulation of LHb function on alcohol consumption and related behaviors. Recent evidence highlights a critical role for the LHb in AUD and related psychiatric ailments. Multidisciplinary work in animals collectively suggests that LHb function and activity, including M-type potassium channels and glutamatergic transmission are altered by acute and repeated chronic alcohol exposure. We will also discuss how functional, pharmacological, and chemogenetic manipulation of the LHb affects ethanol drinking and psychiatric disorders occurring in animals withdrawn from chronic alcohol exposure. Conceivable mechanisms behind these effects and their potential as targets for therapies will also be discussed.
Asunto(s)
Consumo de Bebidas Alcohólicas/metabolismo , Alcoholismo/metabolismo , Ácido Glutámico/fisiología , Habénula/metabolismo , Canales de Potasio/fisiología , Animales , Etanol/administración & dosificación , Etanol/toxicidad , Habénula/efectos de los fármacos , Humanos , Red Nerviosa/efectos de los fármacos , Red Nerviosa/metabolismoRESUMEN
Ethanol's aversive property may limit it's use, but the underlying mechanisms are no well-understood. Emerging evidence suggests a critical role for the lateral habenula (LHb) in the aversive response to various drugs, including ethanol. We previously showed that ethanol enhances glutamatergic transmission and stimulates LHb neurons. GABAergic transmission, a major target of ethanol in many brain regions, also tightly regulates LHb activity. This study assessed the action of ethanol on LHb GABAergic transmission in rat brain slices. Application of ethanol accelerated spontaneous action potential firing of LHb neurons, and LHb activity was increased by the GABAA receptor antagonist gabazine, and ethanol-induced acceleration of LHb firing was further increased by gabazine. Additionally, ethanol potentiated GABAergic transmission (inhibitory postsynaptic currents, IPSCs) with an EC50 of 1.5 mM. Ethanol-induced potentiation of IPSCs was increased by a GABAB receptor antagonist; it was mimicked by dopamine, dopamine receptor agonists, and dopamine reuptake blocker, and was completely prevented by reserpine, which depletes store of catecholamine. Moreover, ethanol-induced potentiation of IPSCs involved cAMP signaling. Finally, ethanol enhanced simultaneously glutamatergic and GABAergic transmissions to the majority of LHb neurons: the potentiation of the former being greater than that of the latter, the net effect was increased firing. Since LHb excitation may contribute to aversion, ethanol-induced potentiation of GABAergic inhibition tends to reduce aversion.