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1.
Disabil Rehabil ; 45(24): 4048-4057, 2023 Dec.
Article in English | MEDLINE | ID: mdl-36866445

ABSTRACT

PURPOSE: The increased rate of surgical interventions point to the necessity to investigate the patient's experience from a biopsychosocial perspective. The aim of this study was to investigate the thoughts and concerns of patients undergoing spinal surgery for lumbar degenerative disease at the time of their discharge from hospital. METHODS: Semi-structured interviews were conducted with 28 patients. The questions investigated possible concerns associated to discharging them home. A content analysis was performed by a multidisciplinary group to identify the main themes that emerged from the interviews. RESULTS: The patients were satisfied with the surgeons' preoperative explanations and description of expected prognosis. However, they were disappointed with the lack of information at hospital discharge, in particular regarding practical and behavioral recommendations. The patients expressed clear concerns about being left alone to deal with possible complications or difficulties they may encounter when returning home. CONCLUSION: This study underlined the patients' need for a comprehensive psychological guidance and possibly a person of reference during the post-operative process. Discussing discharge with the patient was emphasized as an important issue to improve patients' compliance to the recovery process itself. Putting these elements into practice should help spine surgeons to manage better hospital discharge.IMPLICATIONS FOR REHABILITATIONA comprehensive discussion with the patient at the time of hospital discharge is clearly stressed as an important issue to improve patients' adherence to the recovery process.The patients complained of a lack of information when returning home, in particular regarding practical and behavioral recommendations.The patients expressed clear concerns about possible complications or difficulties they may encounter when returning home and they expressed their need to know whom they can contact for help if needed.A better understanding of the thoughts and concerns of patients undergoing spinal surgery at the time of their discharge from hospital should help spine surgeons to improve the management of hospital discharge and the post-operative recovery.


Subject(s)
Lumbar Vertebrae , Patient Discharge , Humans , Prognosis , Lumbar Vertebrae/surgery , Neurosurgical Procedures , Qualitative Research , Hospitals
2.
Annu Int Conf IEEE Eng Med Biol Soc ; 2022: 4044-4047, 2022 07.
Article in English | MEDLINE | ID: mdl-36085986

ABSTRACT

When deciding how to pre-process EEG data, researchers need to make a choice at each single step of the procedure among different possibilities, equally valid. Therefore, in this work, we illustrate how these decisions may affect the quality of the final cleaned data in an Action Observation/Motor Imagery protocol, using quantitative indices. In particular, we showed the effect of segmenting or not the data in epochs around the stimulus presentation time on the independent component analysis (ICA) used for artifact removal. For ICA analysis, we tested two algorithms (SOBI and Extended Infomax). Finally, three re-reference approaches (Common averaged reference-CAR, robust-CAR and reference electrode standardization technique - REST) were also applied and their effects compared. Results showed that the segmenting method has a prominent effect on the cleaning procedure and consequently on final EEG data quality. Extended Infomax is confirmed as the method of choice for the identification of the artifactual components and, finally, CAR and the REST re-referencing techniques led to similar good results.


Subject(s)
Electroencephalography , Signal Processing, Computer-Assisted , Algorithms , Artifacts , Electroencephalography/methods
3.
Annu Int Conf IEEE Eng Med Biol Soc ; 2022: 4809-4812, 2022 07.
Article in English | MEDLINE | ID: mdl-36086203

ABSTRACT

Action Observation Therapy (AOT) is a rehabilitation method which aims at stimulating motor memory by means of the repetitive observation of motor tasks presented through video-clips. Since sleep seems to have a positive effect on learning processes, it is reasonable to hypothesize that the delivery of AOT immediately before sleep hours could enhance the effects of motor training. The objective of the present work was to test the effect of AOT delivered before the sleep hours in terms of improvements in manual dexterity and changes in cortical activity through Electroencephalography (EEG) on healthy subjects. Specifically, EEG traces acquired on a treatment and on a control group before and after three weeks of training during the execution of a Nine Hole Peg Test were analyzed. The spectral analysis of brain signals showed an increased activation of the motor cortex on a subgroup of the treatment subjects. Moreover, a significantly higher involvement of frontal areas was observed in the treatment group.


Subject(s)
Electroencephalography , Motor Cortex , Brain/physiology , Humans , Learning/physiology , Sleep
4.
Eur Rev Med Pharmacol Sci ; 24(6): 2874-2885, 2020 03.
Article in English | MEDLINE | ID: mdl-32271405

ABSTRACT

OBJECTIVE: Analyzing the available evidence by comparing the role of arthroscopic surgery and conservative treatment in the management of degenerative meniscopathy. MATERIALS AND METHODS: A literature search was carried out on the PubMed, EMBASE, Scopus, and PEDro databases in May 2019 to identify all the randomized controlled trials (RCTs) comparing arthroscopic surgery to conservative management of painful but stable degenerated menisci. The quality of the RCTs was assessed using the Cochrane Risk of Bias Assessment. RESULTS: A total of 10 studies, including 1525 patients and dealing with conservative treatment vs. arthroscopic surgery were included in this review. In eight studies the effectiveness of exercise therapy was compared to surgery; in one study the effectiveness of intra-articular steroid injection was compared to surgery; in one study the effectiveness of placebo surgery was compared to partial meniscectomy. In all studies, no significant inter-group difference in terms of knee pain and knee function were observed at any follow-up evaluation. CONCLUSIONS: Degenerative meniscal tears, without symptoms of locking and catching, can be successfully managed by a proper regimen of physical therapy as a first line treatment. Surgical approach might be considered in case of poor response after conservative treatment.


Subject(s)
Arthroscopy , Meniscectomy , Steroids/therapeutic use , Tibial Meniscus Injuries , Humans , Randomized Controlled Trials as Topic , Steroids/administration & dosage , Tibial Meniscus Injuries/drug therapy , Tibial Meniscus Injuries/surgery
5.
Physiol Meas ; 40(5): 054005, 2019 06 04.
Article in English | MEDLINE | ID: mdl-30970334

ABSTRACT

OBJECTIVE: Indoor microclimate may affect students' wellbeing, cardiac autonomic control and cognitive performance with potential impact on learning capabilities. To assess the effects of classroom temperature variations on the autonomic profile and students' cognitive capabilities. APPROACH: Twenty students attending Humanitas University School, (14M, age 21 ± 3 years) underwent a single-lead ECG continuous recording by a portable device during a 2 h lecture when classroom temperature was set 'neutral' (20 °C-22 °C, Day 1) and when classroom temperature was set to 24 °C-26 °C (Day 2). ECGs were sent by telemetry to a server for off-line analysis. Spectral analysis of RR variability provided indices of cardiac sympathetic (LFnu), vagal (HF, HFnu) and cardiac sympatho-vagal modulation (LF/HF). Symbolic analysis of RR variability provided the percentage of sequences of three heart periods with no significant change in RR interval (0V%) and with two significant variations (2V%) reflecting cardiac sympathetic and vagal modulation, respectively. Students' cognitive performance (memory, verbal comprehension and reasoning) was assessed at the end of each lecture using the Cambridge Brain Sciences cognitive evaluation tool. MAIN RESULTS: Classroom temperature and CO2 were assessed every 5 min. Classroom temperatures were 22.4 °C ± 0.1 °C (Day 1) and 26.2 °C ± 0.1 °C (Day 2). Student's thermal comfort was lower during Day 2 compared to Day 1. HR, LF/HF and 0V% were greater during Day 2 (79.5 ± 12.1 bpm, 6.9 ± 7.1 and 32.8% ± 10.3%) than during Day 1 (72.6 ± 10.8 bpm, 3.4 ± 3.7, 21.4% ± 9.2%). Conversely, 2V% was lower during Day 2 (23.1% ± 8.1%) than during Day 1 (32.3% ± 11.4%). Short-term memory, verbal ability and the overall cognitive C-score scores were lower during Day 2 (10.3 ± 0.3; 8.1 ± 1.2 and 10.9 ± 2.0) compared to Day 1 (11.7 ± 2.1; 10.7 ± 1.7 and 12.6 ± 1.8). SIGNIFICANCE: During Day 2, a shift of the cardiac autonomic control towards a sympathetic predominance was observed compared to Day 1, in the presence of greater thermal discomfort. Furthermore, during Day 2 reduced cognitive performances were found.


Subject(s)
Autonomic Nervous System/physiology , Cognition/physiology , Heart/physiology , Students , Temperature , Universities , Electrocardiography , Female , Heart Rate , Humans , Male , Microclimate , Young Adult
6.
Eur Rev Med Pharmacol Sci ; 19(21): 4203-6, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26592848

ABSTRACT

Opioids are drugs of reference for the treatment of moderate to severe pain. Their proper use and a periodic assessment of the patient are crucial to prevent misuse. A multidisciplinary group suggests strategies for all stakeholders involved in the management of pain and suggests the importance of the doctor-patient relationship.


Subject(s)
Analgesics, Opioid/therapeutic use , Opioid-Related Disorders/prevention & control , Pain Management/standards , Physician-Patient Relations , Analgesics, Opioid/adverse effects , Expert Testimony , Humans , Opioid-Related Disorders/drug therapy , Pain/diagnosis , Pain/drug therapy , Pain Management/methods
7.
Eur J Pain ; 19(8): 1129-38, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25565607

ABSTRACT

BACKGROUND: Pain drawings (PDs) are an important component of the assessment of a patient with pain. The aim of this work is to present the test-retest reliability of a novel method of quantifying the extent and location of pain. Additionally, the association between PD variables and clinical features in patients with chronic neck pain (CNP) and chronic low back pain (CLBP) was explored. METHODS: Fifty-one patients with CLBP and 56 patients with CNP participated. Each patient shaded two consecutive PDs using a digital tablet. Software was developed to quantify the pain extent, to analyse the pain overlap between PDs and to produce pain frequency maps. Correlations were obtained between pain extent and clinical features including the level of pain intensity, disability, and psychological distress and cognitive function. RESULTS: The intraclass correlation coefficients for pain extent in CLBP and CNP were very high: 0.97 (95% CI: 0.95-0.98) and 0.92 (95% CI: 0.87-0.98), respectively. The Bland Altman showed a mean difference close to zero: 5.4% pixels in CNP group and 3% pixels in the CLBP group. Significant correlations were observed between pain extent and pain intensity in CLBP and CNP and pain extent and disability in CNP. There was no relation between pain extent and the level of distress or cognitive function. CONCLUSIONS: A novel method for the acquisition of PD was presented. Test-retest reliability of reporting pain extent and pain location was supported in people with CNP and CLBP. Future research is needed to establish psychometric properties of PD.


Subject(s)
Chronic Pain/diagnosis , Pain Measurement/methods , Adult , Aged , Chronic Pain/psychology , Cognition Disorders/etiology , Cognition Disorders/psychology , Disability Evaluation , Female , Humans , Low Back Pain/diagnosis , Low Back Pain/psychology , Male , Middle Aged , Neck Pain/diagnosis , Neck Pain/psychology , Psychometrics , Reproducibility of Results , Stress, Psychological/etiology , Stress, Psychological/psychology
8.
Nanoscale ; 7(7): 3263-9, 2015 Feb 21.
Article in English | MEDLINE | ID: mdl-25619890

ABSTRACT

We investigate, using scanning tunnelling microscopy, the adsorption of pentacene on Ni(111) at room temperature and the behaviour of these monolayer films with annealing up to 700 °C. We observe the conversion of pentacene into graphene, which begins from as low as 220 °C with the coalescence of pentacene molecules into large planar aggregates. Then, by annealing at 350 °C for 20 minutes, these aggregates expand into irregular domains of graphene tens of nanometers in size. On surfaces where graphene and nickel carbide coexist, pentacene shows preferential adsorption on the nickel carbide phase. The same pentacene to graphene transformation was also achieved on Cu(111), but at a higher activation temperature, producing large graphene domains that exhibit a range of moiré superlattice periodicities.

9.
Nutr Metab Cardiovasc Dis ; 25(2): 195-201, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25240689

ABSTRACT

BACKGROUND AND AIMS: We investigated the effect of berberine (BBR), an alkaloid showing antiatherogenic properties beyond the cholesterol lowering capacity, on macrophage cholesterol handling upon exposure to human serum and on macrophage responses to excess free cholesterol (FC) loading. METHODS AND RESULTS: Mouse and human macrophages were utilized as cellular models. Cholesterol content was measured by a fluorimetric assay; cholesterol efflux, cytotoxicity and membrane FC distribution were evaluated by radioisotopic assays. Monocyte chemotactic protein-1 (MCP-1) secretion was measured by ELISA; membrane ruffling and macropinocytosis were visualized by confocal microscopy. Exposure of cholesterol-enriched MPM to serum in the presence of 1 µM BBR resulted in a reduction of intracellular cholesterol content twice greater than exposure to serum alone (-52%; p < 0.01 and -21%; p < 0.05), an effect not mediated by an increase of cholesterol efflux, but rather by the inhibition of cholesterol uptake from serum. Consistently, BBR inhibited in a dose-dependent manner cholesterol accumulation in human macrophages exposed to hypercholesterolemic serum. Confocal microscope analysis revealed that BBR inhibited macropinocytosis, an independent-receptor process involved in LDL internalization. Macrophage FC-enrichment increased MCP-1 release by 1.5 folds, increased cytotoxicity by 2 fold, and induced membrane ruffling; all these responses were markedly inhibited by BBR. FC-enrichment led to an increase in plasma membrane cholesterol by 4.5 folds, an effect counteracted by BBR. CONCLUSION: We showed novel potentially atheroprotective activities of BBR in macrophages, consisting in the inhibition of serum-induced cholesterol accumulation, occurring at least in part through an impairment of macropinocytosis, and of FC-induced deleterious effects.


Subject(s)
Atherosclerosis/drug therapy , Berberine/pharmacology , Macrophages/drug effects , Animals , Anticholesteremic Agents/pharmacology , Cell Membrane/chemistry , Cell Membrane/drug effects , Cells, Cultured , Chemokine CCL2/blood , Chemokine CCL2/metabolism , Cholesterol/chemistry , Humans , Hypercholesterolemia/blood , Macrophages/metabolism , Mice , Mice, Inbred C57BL
10.
Cell Death Dis ; 5: e1130, 2014 Mar 20.
Article in English | MEDLINE | ID: mdl-24651433

ABSTRACT

The study of rare human syndromes characterized by radiosensitivity has been instrumental in identifying novel proteins and pathways involved in DNA damage responses to ionizing radiation. In the present study, a mutation in mitochondrial poly-A-polymerase (MTPAP), not previously recognized for its role in the DNA damage response, was identified by exome sequencing and subsequently associated with cellular radiosensitivity. Cell lines derived from two patients with the homozygous MTPAP missense mutation were radiosensitive, and this radiosensitivity could be abrogated by transfection of wild-type mtPAP cDNA into mtPAP-deficient cell lines. Further analysis of the cellular phenotype revealed delayed DNA repair, increased levels of DNA double-strand breaks, increased reactive oxygen species (ROS), and increased cell death after irradiation (IR). Pre-IR treatment of cells with the potent anti-oxidants, α-lipoic acid and n-acetylcysteine, was sufficient to abrogate the DNA repair and clonogenic survival defects. Our results firmly establish that mutation of the MTPAP gene results in a cellular phenotype of increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after exposure to ionizing radiation, suggesting a pathogenesis that involves the disruption of ROS homeostasis.


Subject(s)
DNA Breaks, Double-Stranded , DNA Repair/drug effects , DNA-Directed RNA Polymerases/genetics , Homozygote , Lymphocytes/radiation effects , Mitochondrial Proteins/genetics , Mutation, Missense , Amish/genetics , Antioxidants/pharmacology , Apoptosis/radiation effects , Cell Line , Cell Survival/radiation effects , Cytoprotection , DNA Breaks, Double-Stranded/drug effects , DNA-Directed RNA Polymerases/metabolism , Dose-Response Relationship, Radiation , Genotype , Humans , Kinetics , Lymphocytes/drug effects , Lymphocytes/enzymology , Lymphocytes/pathology , Mitochondrial Proteins/metabolism , Phenotype , Reactive Oxygen Species/metabolism , Transfection
11.
Mult Scler ; 20(7): 862-70, 2014 06.
Article in English | MEDLINE | ID: mdl-24166355

ABSTRACT

OBJECTIVES: To identify clinical predictors of effectiveness of a motor rehabilitation treatment in a cohort of multiple sclerosis (MS) patients. MATERIALS AND METHODS: We analysed 212 consecutive patients who underwent a short-term (3-7 weeks) intensive (two hours per day, five days per week), individualised, goal-oriented inpatient rehabilitation program. Activity limitation and impairment were measured on admission and discharge of the rehabilitation trial using the motor sub-items of the Functional Independence Measure (mFIM) and the Expanded Disability Status Scale (EDSS) score. Multivariate logistic regression models have been tested to evaluate the role of clinical baseline features on rehabilitation effectiveness. RESULTS: According to pre-defined outcome measures, 75.1% of MS patients improved in either activity limitation (≥5 points delta mFIM) or impairment (≥1.0 delta EDSS score if baseline EDSS was ≤5.5, or ≥0.5 if baseline EDSS was >5.5), and 35.4% of MS patients improved in both outcomes. A relapsing-remitting course of disease, a more severe baseline impairment and activity limitation level, a shorter disease duration and a less severe balance dysfunction were predictive of the effectiveness of rehabilitation. DISCUSSION: These data confirm that an intensive inpatient rehabilitation program is able to produce a short-term relevant improvement on clinical and functional outcome measures and suggest some clinical features which can be considered as potential predictors of the outcome of rehabilitative intervention.


Subject(s)
Exercise Therapy/methods , Mobility Limitation , Motor Activity , Multiple Sclerosis, Chronic Progressive/rehabilitation , Multiple Sclerosis, Relapsing-Remitting/rehabilitation , Adult , Aged , Combined Modality Therapy , Disability Evaluation , Female , Humans , Inpatients , Logistic Models , Male , Middle Aged , Multiple Sclerosis, Chronic Progressive/diagnosis , Multiple Sclerosis, Chronic Progressive/physiopathology , Multiple Sclerosis, Relapsing-Remitting/diagnosis , Multiple Sclerosis, Relapsing-Remitting/physiopathology , Multivariate Analysis , Odds Ratio , Patient Care Team , Patient Discharge , Recovery of Function , Severity of Illness Index , Time Factors , Treatment Outcome , Young Adult
12.
J Chromatogr A ; 1298: 95-102, 2013 Jul 12.
Article in English | MEDLINE | ID: mdl-23746372

ABSTRACT

A RP-HPLC method with pre-column derivatization was developed and validated for the simultaneous quantification of carnosine (Carn), acetylcarnitine taurinate (AC-Tau), asparagine (Asn), potassium aspartate (Asp) and for the determination of phosphoserine (p-Ser) in new and commercial alimentary supplements. The effect of complex matrices was evaluated by the study of the amino acid derivatization reaction with 2,4-dinitrofluorobenzene (DNFB) both in standard and placebo solutions. The reaction was carried out for 20 min at 70 °C in alkaline medium (pH10) for p-Ser analysis, whereas for 60 min in the case of Carn, AC-Tau, Asn and Asp analysis. The adducts have been separated on a Discovery RP Amide C16 (250 mm×4.6mm, i.d.) column using a mobile phase consisting of acetonitrile (ACN) and triethylammonium (TEA) phosphate buffer (pH 3, 0.05 M) under gradient elution conditions at a flow-rate of 0.8 mL/min. Detection was set at λ=360 nm. The validation parameters such as linearity, sensitivity, accuracy, precision and specificity were found to be highly satisfactory. Linear responses were observed by placebo solutions (determination coefficient ≤0.9996). Intra-day precision (relative standard deviation, RSD) was ≤1.06% for corrected peak area and ≤0.99% for retention times (tR) without significant differences between intra- and inter-day data. Recovery studies showed good results for all examined compounds (from 97.7% to 101.5%) with RSD ranging from 0.5% to 1.3%). The high stability of derivatized compound solutions at room temperature means an undoubted advantage of the method allowing the simultaneous preparation of a large number of samples and consecutive chromatographic analyses by the use of an autosampler. The developed method can be considered suitable for the quality control of new and commercial products.


Subject(s)
Acetylcarnitine/analysis , Asparagine/analysis , Aspartic Acid/analysis , Carnosine/analysis , Chromatography, High Pressure Liquid/methods , Phosphoserine/analysis , Reproducibility of Results
13.
Neurosci Lett ; 540: 37-42, 2013 Apr 12.
Article in English | MEDLINE | ID: mdl-23206748

ABSTRACT

Both motor imagery and action observation have been shown to play a role in learning or re-learning complex motor tasks. According to a well accepted view they share a common neurophysiological basis in the mirror neuron system. Neurons within this system discharge when individuals perform a specific action and when they look at another individual performing the same or a motorically related action. In the present paper, after a short review of literature on the role of action observation and motor imagery in motor learning, we report the results of a kinematics study where we directly compared motor imagery and action observation in learning a novel complex motor task. This involved movement of the right hand and foot in the same angular direction (in-phase movement), while at the same time moving the left hand and foot in an opposite angular direction (anti-phase movement), all at a frequency of 1Hz. Motor learning was assessed through kinematics recording of wrists and ankles. The results showed that action observation is better than motor imagery as a strategy for learning a novel complex motor task, at least in the fast early phase of motor learning. We forward that these results may have important implications in educational activities, sport training and neurorehabilitation.


Subject(s)
Imagination , Learning , Motion Perception , Movement , Adult , Animals , Association Learning , Biomechanical Phenomena , Brain/physiology , Female , Humans , Imitative Behavior , Male , Mirror Neurons/physiology , Models, Psychological , Practice, Psychological , Range of Motion, Articular , Serial Learning , Young Adult
14.
J Endocrinol Invest ; 35(7): 699-707, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22714057

ABSTRACT

The GH/IGF-I system plays a well-known hormonal role and its effects, mainly anabolic and insulin-sensitizing, are mediated through endocrine as well as paracrine/ autocrine mechanisms. This system includes the binding proteins, namely GH binding proteins and IGF-I binding proteins (IGFBP). As expected, this axis plays a key role in organism modification in consequence of a physical exercise. Physical activity, training, and exercise capacity chiefly involve anabolism process modifications of various tissues, in particular muscular adjustments. Numerous investigators found a correlation among the level of exercise tolerance, muscle strength or walking speed and IGF-I/IGFBP-3 concentrations. However, also inverse and absent correlations between circulating IGF-I concentrations and acute or chronic exercise responses have been reported. IGF-I is generally accepted as an important GH mediator with metabolic effects, through both endocrine and paracrine or autocrine mechanisms. GH is the main regulator of the hepatic synthesis of IGF-I and IGFBP-3, which is the most abundant IGF carrier in human plasma. Recently, it has been shown that the physical exercise stimulatory impact on skeletal muscles is mediated through an increased local IGF-I synthesis with an IGFPB involvement. An absent association of exercise performance and circulating IGF-I may indicate that exercise will exert muscle strength by predominately locally derived paracrine or autocrine mediators rather than endocrine circulating IGF-I. The present review considers the general aspects of the IGF/IGFPB system and the role of the IGF/IGFPB system in relation to physical exercise (type, duration, etc.) taking into account the training aspects.


Subject(s)
Exercise , Insulin-Like Growth Factor Binding Proteins/metabolism , Insulin-Like Growth Factor I/metabolism , Muscle, Skeletal/metabolism , Diet , Humans , Insulin-Like Growth Factor Binding Proteins/blood , Insulin-Like Growth Factor I/analysis , Liver/metabolism , Protein Isoforms/blood , Protein Isoforms/metabolism
15.
Neurology ; 78(9): 649-57, 2012 02 28.
Article in English | MEDLINE | ID: mdl-22345219

ABSTRACT

OBJECTIVE: To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research. METHODS: Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 C>A (p. A2067D) ATM mutation and mutations in DYT1 and DYT6. Clinical features of the individuals with dystonia who were harboring ATM mutations were compared with those of individuals without mutations. RESULT: Genetic analysis revealed a homozygous founder mutation in ATM in 13 members from 3 of the families, and no one harbored DYT6 or DYT1 mutations. Dystonia in ATM families mimicked other forms of early-onset primary torsion dystonia, especially DYT6, with prominent cervical, cranial, and brachial involvement. Mean age at onset was markedly younger in the patients with variant A-T (n = 12) than in patients with other dystonia (n = 23), (12 years vs 40 years, p < 0.05). The patients with A-T were remarkable for the absence of notable cerebellar atrophy on MRI, lack of frank ataxia on examination, and absence of ocular telangiectasias at original presentation, as well as the presence of prominent myoclonus-dystonia in 2 patients. Many also developed malignancies. CONCLUSION: Ataxia and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and myoclonus-dystonia.


Subject(s)
Ataxia Telangiectasia/genetics , Dystonic Disorders/genetics , Adolescent , Adult , Age of Onset , Ataxia Telangiectasia/complications , Canada , Child , Dystonia/etiology , Dystonia/genetics , Dystonic Disorders/etiology , Female , Genetic Testing , Humans , Male , Middle Aged , Mutation , Pedigree , Phenotype
16.
J Phys Condens Matter ; 24(10): 104018, 2012 Mar 14.
Article in English | MEDLINE | ID: mdl-22353725

ABSTRACT

A simple, but still three-dimensional, model describing the morphological stability of realistic SiGe islands on Si(001) is presented. The experimental evolution toward steeper islands with volume can be predicted for any average composition. Despite the use of elastic theory for stress relaxation under the assumption of a uniform SiGe distribution, and of a common mean surface energy of the faceted islands, the model seems to capture the essence of the energetic balance determining the morphological evolution with volume, with no fitting parameters. This is suggested by close comparison with molecular beam epitaxy data at three different temperatures (i.e. compositions). The good agreement also allows for interpreting the minor scattering of experimental data with temperature and provides a reliable tool for extracting the average Ge content from standard atomic force microscopy analysis.

17.
Dis Esophagus ; 24(8): 583-9, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21489043

ABSTRACT

Esophageal cancer surgery is traditionally performed by a number of open surgical approaches. Open approaches require thoracotomy and laparotomy. Developments in instrumentation and optics have allowed the use of minimally invasive approaches to esophageal cancer, which had been traditionally managed by open operation. Minimally invasive surgery (MIS) avoids thoracotomy and laparotomy and results in quicker return to normal functions and less morbidity. In this prospective study, we compared the immediate surgical and oncologic outcomes of patients who have undergone MIS with those who have had open surgery. From November 1, 2003 to March 30, 2006, 62 cases of carcinoma esophagus were operated in Surgical unit 3 (MIS unit) in the institute. Out of the 62 patients, 34 (54.8%) underwent minimally invasive esophagectomy (MIE), and the remaining 28 patients (45.2%) underwent open surgery. Both operations were done by the same team of surgeons. The groups were compared in terms of perioperative outcomes, morbidity, mortality, and adequacy of oncologic excision. The average duration for MIS was 312.35 min (60-480 min), which was more than that of open group surgery whose average duration was 261.96 min (60-360 min). This difference was found to be not significant (P < 0.110). The average blood loss was 275.74 mL (200-500 mL) in minimally invasive group compared with 312.50 (200-500 mL) in open group (P-value 0.33). Four patients (11.76%) in MIS group had been converted to open surgery. Average duration of hospitalization was 11.9 (4-24) days in MIS group compared with 12.19 (5-24) days in open group (P-value 0.282). Nine (26.47%) patients in MIS group had developed major or minor morbidity. Similarly, eight (28.57%) patients in open group had morbidity. One patient each expired in each group. The morbidity and mortality rates were not statistically significant. There were four leaks (11.76%) in MIS group and three leaks (10.71%) in open group (P-value 0.85). Regarding the extent of nodal clearance, an average number of 9.5 (0-19) nodes were removed in MIS group compared with an average of 7.26 (0-12) nodes in open group (P-value 0.05). Better visibility and magnification enabled more number of lymph nodes to be removed in MIS group. MIE is oncologically safe compared with open surgery. It has almost similar postoperative course, morbidity pattern, and duration of hospital stay as open surgery. Increased duration of procedure compared with open surgery is a disadvantage of MIS, especially in the early part of learning curve.


Subject(s)
Adenocarcinoma/surgery , Carcinoma, Squamous Cell/surgery , Developing Countries , Esophageal Neoplasms/surgery , Esophagectomy/methods , Laparoscopy , Thoracotomy , Adenocarcinoma/pathology , Adult , Aged , Blood Loss, Surgical , Carcinoma, Squamous Cell/pathology , Chi-Square Distribution , Disease-Free Survival , Esophageal Neoplasms/pathology , Female , Humans , India , Laparoscopy/adverse effects , Length of Stay , Lymph Node Excision , Male , Middle Aged , Postoperative Complications/etiology , Prospective Studies , Thoracotomy/adverse effects , Time Factors , Treatment Outcome
18.
Cell Death Differ ; 18(9): 1500-6, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21394101

ABSTRACT

Maintaining genomic integrity is critical to avoid life-threatening disorders, such as premature aging, neurodegeneration and cancer. A multiprotein cascade operates at sites of DNA double-strand breaks (DSBs) to recognize, signal and repair damage. RNF168 (ring-finger nuclear factor) contributes to this emerging pathway of several E3 ubiquitin ligases that perform sequential ubiquitylations on damaged chromosomes, chromatin modifications essential for aggregation of repair complexes at the DSB sites. Here, we report the clinical and cellular phenotypes associated with a newly identified homozygous nonsense mutation in the RNF168 gene of a patient with a syndrome mimicking ataxia-telangiectasia. The mutation eliminated both of RNF168's ubiquitin-binding motifs, thus blocking progression of the ubiquitylation cascade and retention of repair proteins including tumor suppressors 53BP1 and BRCA1 at DSB sites, consistent with the observed defective DNA damage checkpoints/repair and pronounced radiosensitivity. Rapid screening for RNF168 pathway deficiency was achieved by scoring patients' lymphoblastoid cells for irradiation-induced nuclear foci containing 53BP1, a robust assay we propose for future diagnostic applications. The formation of radiation-induced DSB repair foci was rescued by ectopic expression of wild-type RNF168 in patient's cells, further causally linking the RNF168 mutation with the pathology. Clinically, this novel syndrome featured ataxia, telangiectasia, elevated alphafetoprotein, immunodeficiency, microcephaly and pulmonary failure and has implications for the differential diagnosis of autosomal recessive ataxias.


Subject(s)
Ataxia Telangiectasia/genetics , Codon, Nonsense , Ubiquitin-Protein Ligases/genetics , Adolescent , Ataxia Telangiectasia/diagnosis , Ataxia Telangiectasia/metabolism , Ataxia Telangiectasia/physiopathology , BRCA1 Protein/genetics , BRCA1 Protein/metabolism , Diagnosis, Differential , Growth Disorders/genetics , Growth Disorders/physiopathology , Homozygote , Humans , Intracellular Signaling Peptides and Proteins/genetics , Intracellular Signaling Peptides and Proteins/metabolism , Male , Radiation Tolerance/genetics , Syndrome , Tumor Suppressor p53-Binding Protein 1 , Ubiquitin/genetics , Ubiquitin/metabolism , Ubiquitin-Protein Ligases/deficiency
19.
Scand J Med Sci Sports ; 21(2): 157-69, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21129038

ABSTRACT

Saliva contains cells and compounds, of local and non-local oral origin, namely inorganic, organic non-protein, protein/polypeptide, and lipid molecules. Moreover, some hormones, commonly assayed in plasma, such as steroids, are detectable in oral fluid and peptide/protein, and non-steroid hormones have been investigated. The sports practice environment and athletes' availability, together with hormone molecule characteristics in saliva and physical exercise behavior effects, confirm this body fluid as an alternative to serum. This review focuses on the relation between salivary steroids and psycho-physiological stress and underlines how the measurement of salivary cortisol provides an approach of self-report psychological indicator and anxiety change in relation to exercise performance. The correlation between salivary and plasma steroid hormone (cortisol, testosterone, and dehydroepiandrosterone (DHEA)) levels, observed during exercise, has been considered, underlining how the type, duration, and intensity of the exercise influence the salivary steroid concentrations in the same way as serum-level variations. Training conditions have been considered in relation to the salivary hormonal response. This review focuses on studies related to salivary hormone measurements, mainly steroids, in physical exercise. Saliva use in physical disciplines, as a real alternative to serum, could be a future perspective.


Subject(s)
Exercise/physiology , Hormones/metabolism , Saliva/metabolism , Hormones/physiology , Humans , Steroids/metabolism , Steroids/physiology , Stress, Physiological/physiology , Stress, Psychological/metabolism , Stress, Psychological/physiopathology
20.
Clin Nephrol ; 74(6): 485-90, 2010 Dec.
Article in English | MEDLINE | ID: mdl-21084054

ABSTRACT

Chronic periaortitis (CP) is a rare disease hallmarked by the presence of a periaortic retroperitoneal fibro-inflammatory tissue which can often cause obstructive uropathy. CP is isolated in most cases but it may also be associated with other sclerosing inflammatory and immune-mediated diseases. We here present the case of a patient who was initially diagnosed as having CP and subsequently developed membranous nephropathy and chronic sclerosing sialoadenitis of the right parotid gland. As these conditions were all characterized by either pronounced infiltration of IgG4-positive plasma cells or marked IgG4 tissue deposition, we hypothesize that they are part of the same disease spectrum, and discuss the immune-mediated pathogenetic mechanisms potentially shared by these conditions. In particular, we consider the role of Th2-mediated immune reactions and of immunogenetic factors such as HLA genotype as common determinants of these disorders.


Subject(s)
Glomerulonephritis, Membranous/complications , Parotid Diseases/complications , Retroperitoneal Fibrosis/complications , Aged , Biopsy , Chronic Disease , Fluorescent Antibody Technique , Genotype , Glomerulonephritis, Membranous/diagnosis , Glomerulonephritis, Membranous/immunology , Glucocorticoids/administration & dosage , HLA Antigens/genetics , HLA Antigens/immunology , Humans , Immunoglobulin G/analysis , Male , Microscopy, Confocal , Parotid Diseases/diagnosis , Parotid Diseases/immunology , Phenotype , Plasma Cells/immunology , Prednisone/administration & dosage , Retroperitoneal Fibrosis/diagnosis , Retroperitoneal Fibrosis/immunology , Sclerosis , Sialadenitis/complications , Sialadenitis/diagnosis , Sialadenitis/immunology , Th2 Cells/immunology , Tomography, X-Ray Computed , Treatment Outcome
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