ABSTRACT
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by a varying degree of severity that correlates with the reduction of SMN protein levels. Motor neuron degeneration and skeletal muscle atrophy are hallmarks of SMA, but it is unknown whether other mechanisms contribute to the spectrum of clinical phenotypes. Here, through a combination of physiological and morphological studies in mouse models and SMA patients, we identify dysfunction and loss of proprioceptive sensory synapses as key signatures of SMA pathology. We demonstrate that SMA patients exhibit impaired proprioception, and their proprioceptive sensory synapses are dysfunctional as measured by the neurophysiological test of the Hoffmann reflex (H-reflex). We further show that loss of excitatory afferent synapses and altered potassium channel expression in SMA motor neurons are conserved pathogenic events found in both severely affected patients and mouse models. Lastly, we report that improved motor function and fatigability in ambulatory SMA patients and mouse models treated with SMN-inducing drugs correlate with increased function of sensory-motor circuits that can be accurately captured by the H-reflex assay. Thus, sensory synaptic dysfunction is a clinically relevant event in SMA, and the H-reflex is a suitable assay to monitor disease progression and treatment efficacy of motor circuit pathology.
ABSTRACT
BACKGROUND: The insertion torque of dental implants will depend on a combination of different factors such as bone density, the design of the implant and the drilling protocol used. However, it is not clear how the interaction of these factors affects the final insertion torque and which drilling protocol should be used in each clinical situation. The aim of this work is to analyse the influence of bone density, implant diameter and implant length on the insertion torque using different drilling protocols. MATERIAL AND METHODS: An experimental study was carried out in which the maximum insertion torque was measured, in standardised polyurethane blocks (Sawbones Europe AB) of four densities, for M12 Oxtein dental implants (Oxtein, Spain) with diameters of 3.5, 4.0, 4.5 and 5mm, and lengths of 8.5mm, 11.5mm and 14.5mm. All these measurements were carried out following four drilling protocols, a standard protocol, adding a bone tap, cortical drill or conical drill. In this way, a total of 576 samples were obtained. For the statistical analysis, the table of confidence intervals, mean, standard deviation and covariance was carried out, in total and grouped by the parameters used. RESULTS: The insertion torque for D1 bone obtained very high levels, reaching 77 6.95 N/cm, these values improved with the use of conical drills. In D2 bone, the mean torque obtained was 37.89± 13.70N/cm, with values within the standard. In D3 and D4 bone significantly low torques were obtained with values of 14.97± 4.40N/cm and 9.88± 4.16N/cm (p>0.001) respectively. CONCLUSIONS: In D1 bone, conical drills must be incorporated in drilling to avoid excessive torque, while in D3 and D4 bone, these would be contraindicated, as they drastically decrease the insertion torque, which may compromise the treatment.
Subject(s)
Dental Implants , Humans , Dental Implantation, Endosseous/methods , Bone Density , Torque , Bone and BonesABSTRACT
BACKGROUND: The coronavirus pandemic has impacted health systems worldwide, with Spain being one of the most affected countries. However, little is known about the extent to which the effects of staying home, social distancing, and quarantine measures have influenced the epidemiology of patients with maxillofacial trauma. The aim of this study was to analyze the impact of the coronavirus pandemic on the incidence, demographic patterns, and characteristics of maxillofacial fractures in the largest hospital in southern Spain. MATERIAL AND METHODS: Data from patients who underwent surgery for maxillofacial fractures during the first year of the pandemic between 16 March 2020 and 14 March 2021 (pandemic group) were retrospectively compared with a control group during the equivalent period of the previous year (pre-pandemic group). The incidence was compared by weeks and by lockdown periods of the population. Demographic information, aetioloy, fracture characteristics, treatment performed, and days of preoperative stay were evaluated. Descriptive and bivariate statistics were calculated (p<0.05). RESULTS: During the first year of the pandemic, there was a 35.2% reduction in maxillofacial fractures (n=59) compared to the pre-pandemic year (n=91, p=0.040). A significant drop was detected during the total home lockdown period of the population (p=0.028). In the pandemic group, there was a reduction in fractures due to interpersonal aggressions, an increase in panfacial fractures, a significant increase in other non-facial injuries associated with polytrauma (p=0.037), a higher number of open reduction procedures with internal fixation, and a significantly longer mean preoperative stay (p=0.016). CONCLUSIONS: The first pandemic year was associated with a decline in the frequency of maxillofacial trauma and a change in the pattern and characteristics of fractures. Inter-annual epidemiological knowledge of maxillofacial fractures may be useful for more efficient planning of resource allocation and surgical practice strategy during future coronavirus outbreaks and population lockdowns.
Subject(s)
Coronavirus , Fractures, Bone , Maxillofacial Injuries , Fractures, Bone/epidemiology , Humans , Maxillofacial Injuries/epidemiology , Maxillofacial Injuries/etiology , Maxillofacial Injuries/surgery , Pandemics , Retrospective Studies , Spain/epidemiologyABSTRACT
To evaluate and compare outcomes and complications associated with reconstruction of the temporomandibular joint (TMJ), we prospectively analysed the data of 70 patients who had their joints replaced with stock prostheses during the period 2004-14 and who had been followed up for five years. We used two types of stock prostheses: the metal-on-metal Christensen system (CS), and the ultra-high-molecular-weight-polyethylene-on-metal Biomet® system (BS). Data were collected at 3, 6, 12, 24, 36, 48, and 60 months postoperatively and compared with preoperative measurements. Five years after the replacement there was an increase in mean (SD) mouth opening from 2.0 (0.6) to 4.0 (0.5cm) (p=0.012) in the CS, and from 2.5 (1.0) cm to 4.1 (0.6) cm (p=0.018) in the BS. The mean (SD) reductions in visual analogue pain scores were from 6.9 (1.6) to 2.0 (1.4) (p=0.001) in the CS, and 6.5 (1.4) to 1.5 (1.1) (p=0.001) in the BS. There were no significant differences in improvements in mouth opening or reduction in pain between the two groups. However, there were differences in the number of implants that failed, which led to removal and replacement of 2/14 prostheses in the CS group and 3/77 in the BS group (p=0.06). The results supported the placement of stock prostheses, as evidenced by a low incidence of complications and adverse events, and a long-term improvement in function and reduction in pain in the TMJ. The BS group had significantly fewer prosthetic failures than the CS group.
Subject(s)
Arthroplasty, Replacement , Joint Prosthesis , Temporomandibular Joint Disorders/surgery , Humans , Postoperative Complications , Prospective Studies , Prosthesis Design , Range of Motion, Articular , Temporomandibular Joint/surgery , Treatment OutcomeABSTRACT
The formation of ore deposits has been extensively studied from a shallow crust perspective. In contrast, the association of mineral systems with deep crustal structure of their host terranes remains relatively undisclosed, and there is evidence that processes throughout the lithosphere are coupled for their evolution. The current debate centers on the control of the regional deep crustal architecture in focusing and transferring fluids between geochemical reservoirs. Defining such architecture is not unequivocal, and involves combining indirect information in order to constrain its physical properties and evolution. Herein, based on evidence from satellite gravity, constrained by airborne potential field data (gravity and magnetics), we provide an example on how the lithosphere geometry controlled the location of copper and gold systems in the world-class Archean Carajás Mineral Province (Amazonian Craton, South America). Validation with information from passive seismic (wave speeds, crustal and lithospheric thickness) and geochronologic data (model, crystallization ages, and Neodymium isotope ratio determinations) portrays a significantly enlarged, poly-phase, Archean crust that exerted geometric control on the location of the mineral systems within and adjacent to the province during tectonic quiescence and switches. This new geologic scenario impacts the understanding of the Amazonian Craton. Synergy between multi-source data, as experimented here, can provide robust models efficiently and, conceivably, help to unveil similar terrains elsewhere.
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No disponible
Subject(s)
Humans , Male , Female , Infant , Vitamin D/therapeutic use , Rickets/prevention & control , Dietary Supplements , Prescription Drugs/therapeutic use , Medication AdherenceABSTRACT
No disponible
Subject(s)
Humans , Female , Adolescent , Thyroid Neoplasms/diagnosis , Carcinoma, Medullary/diagnosis , Multiple Endocrine Neoplasia/diagnosis , Early Detection of Cancer/methodsABSTRACT
No disponible
Subject(s)
Humans , Respiratory Tract Infections/drug therapy , Anti-Bacterial Agents/therapeutic use , Outcome and Process Assessment, Health CareABSTRACT
This study evaluates the changes in quality of life (QoL) from pre-treatment to 3 years after commencement of treatment and its relation to therapeutic variables in patients with oral and oropharyngeal carcinoma. QoL was assessed using the EORTC QLQ-C30 questionnaires and the EORTC head and neck cancer specific module QLQ-H&N35. QoL data were obtained prior to treatment and 1 and 3 years after treatment began. Of 128 patients, 69 completed all the questionnaires over the course of 3 years. Variable deterioration of QoL scores was detected before treatment. Most of the parameters worsened significantly after treatment and during the first year, and improved by the third year. Patients who underwent surgical treatment combined with adjuvant radiotherapy and chemotherapy generally showed worse scores and needed a long time to recover from the disease and the treatment adverse effects. This long-term prospective study performed using the EORCT questionnaires in a homogeneous group of patients with oral and oropharyngeal carcinoma may allow better understanding of the impact of treatment and the changes in QoL that occur.
Subject(s)
Carcinoma, Squamous Cell/psychology , Carcinoma, Squamous Cell/surgery , Mouth Neoplasms/psychology , Mouth Neoplasms/surgery , Oral Surgical Procedures/psychology , Quality of Life , Activities of Daily Living , Adult , Aged , Aged, 80 and over , Carcinoma, Squamous Cell/drug therapy , Carcinoma, Squamous Cell/radiotherapy , Chemotherapy, Adjuvant/adverse effects , Emotional Intelligence , Female , Humans , Male , Middle Aged , Mouth Neoplasms/drug therapy , Mouth Neoplasms/radiotherapy , Neoplasm Staging , Oropharyngeal Neoplasms/drug therapy , Oropharyngeal Neoplasms/psychology , Oropharyngeal Neoplasms/radiotherapy , Oropharyngeal Neoplasms/surgery , Prospective Studies , Radiotherapy, Adjuvant/adverse effects , Surveys and QuestionnairesABSTRACT
Quality of life (QoL) is an important aspect in the clinical assessment and management of patients with cancer. The aim of the present study was to evaluate QoL at the time of diagnosis in patients with oral and oropharyngeal cancer and to establish the influence of variables such as gender, age, tumor location and tumor staging. The authors studied 149 patients with oral and oropharyngeal cancer for 2 years. QoL was measured using the EORTC QLQ-C30 and its specific modules for head and neck cancer QLQ-H&N 35. Variable deterioration of QoL was observed before therapy. The emotional domain showed the greatest alterations, while pain was the most remarkable symptom variable. QoL seems to be associated with gender (female patients obtained worse scores in most of the functional scales), age (patients < 65 years scored better), tumor location (orpharyngeal tumors showed worse prognosis) and tumor staging (early stages obtained better scores than advances ones). Many patients with oral and oropharyngeal cancer show poor QoL before initiating treatment. The present study of a homogeneous group of patients is the first carried out in Spain following the EORTC QLQ-C30 questionnaire and its results may serve for future reference. These results are similar to those obtained in populations from the north and centre of Europe.
Subject(s)
Mouth Neoplasms/psychology , Oropharyngeal Neoplasms/psychology , Quality of Life/psychology , Sickness Impact Profile , Adult , Age Factors , Aged , Aged, 80 and over , Chi-Square Distribution , Cost of Illness , Female , Humans , Male , Middle Aged , Severity of Illness Index , Sex Factors , Spain , Statistics, NonparametricABSTRACT
A second-order multivariate calibration approach, based on a combination of PARAFAC with time-resolved room temperature phosphorescence (RTP), has been applied to resolve a binary mixture of Phenanthrene and 1,10-Phenanthroline, as model compounds. The RTP signals were obtained in aqueous beta-cyclodextrin solutions, in the presence of several heavy atom containing compounds. No deoxygenation was necessary to obtain the phosphorescence signals, which adds simplicity to the method. The resolution of the model compounds was possible in base to the differences in the delay-time of the RTP signals of the investigated analytes, opening a new approach for second-order data generation and subsequent second order multivariate calibration.
Subject(s)
Luminescent Measurements/methods , Phenanthrenes/analysis , Phenanthrolines/analysis , Complex Mixtures/analysis , Luminescent Measurements/standards , Solutions , beta-CyclodextrinsSubject(s)
Hepatitis B virus/isolation & purification , Lymphoma, B-Cell , Splenic Neoplasms , Blood/virology , Female , Humans , Lymphoma, B-Cell/diagnosis , Lymphoma, B-Cell/pathology , Lymphoma, B-Cell/surgery , Lymphoma, B-Cell/virology , Middle Aged , Spleen/pathology , Splenectomy , Splenic Neoplasms/diagnosis , Splenic Neoplasms/pathology , Splenic Neoplasms/surgery , Splenic Neoplasms/virology , Splenomegaly/etiology , Treatment Outcome , Viral LoadABSTRACT
Primary intraosseous hemangioma, though rarely affect the bones of the orbit, should be considered in the differential diagnosis when a patient presents an enlarging mass fixed to the bone in the orbit or signs of progressive painless proptosis. Assessing the exact site and extent of the hemangioma by means of a CT scan and MRI and establishing the vascular origin of the lesion, is critical in the therapeutical planning, since an inadequate management may result in a severe hemorrhage. Progressive proptosis and contour deformity require surgical treatment. Two cases of patients with primary intraosseus hemangioma of the supra-lateral orbital rim are reported. A bony healthy margin excision was performed, followed by immediate reconstruction of the orbit with calvarial bone grafts fixed with resorbable plates. After three-year follow-up there have not been evidence of local recurrence, and the functional and aesthetic results obtained have been very satisfactory.
Subject(s)
Hemangioma/pathology , Orbit/pathology , Orbital Neoplasms/pathology , Adult , Hemangioma/diagnosis , Hemangioma/surgery , Humans , Male , Middle Aged , Orbit/surgery , Orbital Neoplasms/diagnosis , Orbital Neoplasms/surgery , Plastic Surgery ProceduresABSTRACT
El hemangioma intraóseo primario, aunque rara vez afecta a los huesos de la órbita, se debe tener encuenta en el diagnóstico diferencial en aquellos pacientes que presenten una masa fija en la órbita o signos de proptosis progresiva no dolorosa. Para el planteamiento terapéutico es crítico valorar la localización exacta y la extensión de la lesión mediante TC y RNM, y establecer si tiene un origen vascular, pues un manejo inadecuado puede dar lugar a una hemorragia severa. El tratamiento quirúrgico se indica ante una proptosis progresiva o una deformidad estética. Se presentan dos casos de pacientes con hemangiomas primarios intraóseos del reborde supralateral de la órbita. Se realizó una extirpación con un margen óseo sano y se reconstruyó la órbita de forma inmediata mediante injertos de calota fijados con placas reabsorbibles. En el seguimiento a 3años no ha habido evidencia de recurrencia local, y los resultados funcionales y estéticos obtenidos han sido muy satisfactorios
Primary intraosseous hemangioma, though rarely affect the bones of the orbit, should be considered in the differential diagnosis when a patient presents an enlarging mass fixed to the bone in the orbit or signs of progressive painless proptosis. Assessing the exact site and extent of the hemangioma by means of a CT scan and MRI and establishing the vascular origin of the lesion, is critical in the therapeutical planning, since an inadequate management may result in a severe hemorrhage. Progressive proptosis and contour deformity require surgical treatment. Two cases of patients with primary intraosseus hemangioma of the supra-lateral orbital rim are reported. A bony healthy margin excision was performed, followed by immediate reconstruction of the orbit with calvarial bone grafts fixed with resorbable plates. After three-year follow-up there have not been evidence of local recurrence, and the functional and aesthetic results obtained have been very satisfactory
Subject(s)
Humans , Male , Adult , Middle Aged , Orbital Neoplasms/diagnosis , Orbital Neoplasms/surgery , Hemangioma/diagnosis , Hemangioma/surgery , Plastic Surgery ProceduresABSTRACT
No disponible