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1.
Eur J Neurol ; : e16393, 2024 Jun 26.
Article in English | MEDLINE | ID: mdl-38924263

ABSTRACT

BACKGROUND AND PURPOSE: The aim was to investigate whether neurofilament light chain (NfL) and profilin-1 (PFN-1) might qualify as surrogate disease and treatment-response biomarkers by correlating their concentrations dynamic with clinical status in a cohort of 30 adult spinal muscular atrophy type 3 patients during nusinersen therapy up to 34 months. METHODS: Neurofilament light chain was measured in cerebrospinal fluid at each drug administration with a commercial enzyme-linked immunosorbent assay (ELISA); PFN-1 concentrations were tested in serum sampled at the same time points with commercial ELISA assays. Functional motor scores were evaluated at baseline, at the end of the loading phase and at each maintenance dose and correlated to biomarker levels. The concurrent effect of age and clinical phenotype was studied. RESULTS: Neurofilament light chain levels were included in the reference ranges at baseline; a significant increase was measured during loading phase until 1 month. PFN-1 was higher at baseline than in controls and then decreased during therapy until reaching control levels. Age had an effect on NfL but not on PFN-1. NfL was partially correlated to functional scores at baseline and at last time point, whilst no correlation was found for PFN-1. CONCLUSION: Cerebrospinal fluid NfL levels did not qualify as an optimal surrogate treatment biomarker in adult spinal muscular atrophy patients with a long disease duration, whilst PFN-1 might to a greater extent represent lower motor neuron pathological processes. The observed biomarker level variation during the first 2 months of nusinersen treatment might suggest a limited effect on axonal remodeling or rearrangement.

3.
Eur J Paediatr Dent ; 23(2): 131-136, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35722839

ABSTRACT

AIM: To investigate the effects of anticancer therapy on dental development and caries formation in Italian childhood cancer survivors compared to healthy controls. METHODS: A total of 52 children treated with chemotherapy and/or radiotherapy when younger than 10 years and in remission from at least 2 years, and 52 healthy age- and gender-matched children were consecutively enrolled in this cross-sectional study. All participants were examined for dental caries and enamel defects according to the decayed-missing-filled teeth (dmft/DMFT) index and the Aine rating scale. Panoramic radiographs were taken to estimate dental age and to assess dental abnormalities using the Höltta Defect Index. CONCLUSION: These children are at high risk for tooth developmental abnormalities and poor dental health and should be closely monitored by a specialist dentist.


Subject(s)
Anodontia , Dental Caries , Tooth Abnormalities , Child , Cross-Sectional Studies , DMF Index , Dentition , Humans , Prevalence
4.
Heliyon ; 8(5): e09338, 2022 May.
Article in English | MEDLINE | ID: mdl-35521507

ABSTRACT

In Nigeria, the inconsistency in maize production compared to the projected average output has grave implications considering the sharp increase in maize demand and its strategic importance in addressing economic welfare issues. Thus, emphasis is placed on improved agricultural technologies for increasing farming household's productivity and income. This study explored the determinant of complementary improved maize varieties (IMVs) and crop diversification (CD) adoption on smallholder maize farmers' welfare (measured by productivity and net farm income) in Ogun State, Nigeria, using a cross sectional data obtained from a multi-staged random sampling of 200 respondents. A multinomial endogenous switching regression (MESR), that correct for endogeneity and unnoticed heterogeneity was employed to analysed the data. The results from the analysis highlighted different socioeconomic characteristics, input variables, policy, and institutional variables as the determinants of the package adoption of IMVs and CD. Estimates of the average treatment effect (ATT) from the MESR model revealed that farmers who adopt IMVs and CD in combination or in isolation realised increased maize productivity and net farm income per hectare. However, farmers who adopt only IMVs achieved the highest welfare outcomes. These findings heighten that policies that stimulate IMVs adoption should be designed, prioritised and upscale to farming areas experiencing low yields to meet farmers' socioeconomic and livelihoods conditions.

5.
J Neurooncol ; 157(3): 551-559, 2022 May.
Article in English | MEDLINE | ID: mdl-35397759

ABSTRACT

PURPOSE: Lacosamide (LCM) is a third-generation anti-seizure medication (ASM) approved for focal onset epilepsy in patients aged ≥ 4.378 Previous studies have reported an efficacy of LCM as add-on treatment in brain tumor-related epilepsy (BTRE). To date, there are no studies in the literature focusing on lacosamide used in monotherapy to treat BTRE. In our retrospective study we investigated efficacy and tolerability of LCM in monotherapy in a multicenter national cohort of primary brain tumor patients. METHODS: We collected from 12 Italian Centers 132 patients with primary brain tumors who were treated with LCM in monotherapy. For each patient we evaluated seizure freedom at 3 and 6 months (primary endpoints), side effects and drop-out rate (secondary endpoints). RESULTS: Overall, LCM led to seizure freedom in 64.4% of patients at 3 months and 55% at 6 months. Patients who used two or more ASMs before LCM had a worse seizure control than patients in monotherapy with LCM as first choice. In 14 patients, we observed seizure control despite tumor progression on magnetic resonance (MRI). Multivariate analysis showed that gross-total resection at diagnosis was significantly associated with higher seizure freedom rate at 6 months. Side effects were mainly mild (grade 1-2 according to CTCAE classification) and drop-out rate was low (1.5%). Main side effects were dizziness and somnolence. CONCLUSIONS: This is the first study showing a good efficacy and tolerability of LCM when used in monotherapy in BTRE. Further prospective studies are needed to confirm these preliminary data, investigating also quality of life and neurocognitive functions.


Subject(s)
Brain Neoplasms , Drug-Related Side Effects and Adverse Reactions , Epilepsies, Partial , Epilepsy , Acetamides , Anticonvulsants/therapeutic use , Brain Neoplasms/complications , Brain Neoplasms/drug therapy , Epilepsies, Partial/complications , Epilepsies, Partial/drug therapy , Epilepsy/complications , Epilepsy/etiology , Humans , Lacosamide/therapeutic use , Quality of Life , Retrospective Studies , Seizures/drug therapy , Treatment Outcome
6.
Eur J Paediatr Dent ; 21(2): 110-114, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32567941

ABSTRACT

AIM: To investigate whether the daily use of a spray containing an aqueous extract of Triticum vulgare (TV), belonging to the family of Graminaceae, associated with supervised toothbrushing may improve gingival health in schoolchildren with mixed dentition. MATERIALS AND METHODS: Study design: Randomised, controlled, single-centre, examiner blind, parallel-group study. The study population included 57 schoolchildren with plaque-induced gingivitis randomly allocated to test (n = 29) and control (n = 28) group. Both groups were enrolled in a mechanical plaque control programme for a period of 2 weeks. The test group was also instructed to use a gluten free spray formulation of TV spray twice daily after toothbrushing. Evaluations of plaque index, modified gingivitis index (GI), salivary pH and whole stimulated saliva quantity took place at baseline and after 1 and 2 weeks of study product use. RESULTS: No side effects were observed. Plaque accumulation and GI statistically significantly improved compared with baseline in both groups (all P-values < 0.005), while salivary pH remained nearly unchanged. Between-group differences in index reduction were statistically significant only for GI favouring the test group (P = 0.013). STATISTICS: Repeated-measures ANOVA and the Friedman test were applied to evaluate the influence of time on quantitative variables within each treatment group. Differences between test and control groups were tested using the unpaired t test or the Mann-Whitney U-test with Bonferroni correction. CONCLUSIONS: This study found that TV in spray formulation is safe and effective in controlling gingival inflammation. Thus, it may be a potential adjuvant in the treatment of gingivitis in combination with mechanical plaque control in schoolchildren.


Subject(s)
Dental Plaque , Gingivitis , Child , Dental Plaque Index , Humans , Inflammation , Oral Sprays , Single-Blind Method , Toothbrushing , Triticum
7.
Hum Antibodies ; 28(3): 233-243, 2020.
Article in English | MEDLINE | ID: mdl-32333583

ABSTRACT

BACKGROUND: Hepatitis B virus infection is a global public health problem. The virus has infected more than one-third of the global population. It has been estimated that 360 million chronic carriers are living around the world with a high risk for developing cirrhosis, hepatic carcinoma and hepatic failure. OBJECTIVE: The aim of this study was to determine the prevalence of some hepatitis B markers among pregnant women attending antenatal clinic in Sokoto Specialist Hospital, Nigeria. METHODS: The hepatitis testing was carried out using the Skytec-Rapid Diagnostic HBV-5 rapid kit (Skytec-Rapid Diagnostic, USA). The kit is based on lateral flow chromatographic immunoassay for the qualitative detection of HBsAg, HBsAb, HBeAg, HBeAb, and HBcAb in human serum or plasma. Panel format can conveniently test for five targets at once and utilizes all markers to help distinguish between acute and chronic infections. RESULTS: Out of 117 pregnant women tested, 15 were positive for HBsAg (12.8%), 6 positive for HBsAb (5.1%), 1 for HBeAg (0.9%), 14 tested positive for HBeAb (12.0%), and 14 tested for HBcAb (12.0%). The prevalence of HBsAg, HBsAb, HBeAg, HBcAb and HBcAb was compared based on ethnicity. HBsAb was significantly higher among the Hausa ethnic group (p= 0.001). The prevalence of HBsAb, HBeAg, HBcAb and HBcAb was not affected by ethnicity (p> 0.05). The prevalence of HBsAg, HBsAb, HBeAg, HBcAb and HBcAb was compared based on age. Infection by the hepatitis B virus markers was higher among young adult and middle age groups. The difference was however not statistically significant (p> 0.05). The prevalence of HBsAg, HBsAb, HBeAg, HBcAb and HBcAb was compared based on the educational status, previous history of blood transfusion, jaundice, employment status and previous history of still births among the pregnant subjects. There were no statistically significant differences in the prevalence of Hepatitis B virus markers (p> 0.05). CONCLUSION: The study observed a high prevalence of various hepatitis B viral markers among pregnant women attending antenatal care in Specialist Hospital Sokoto. There is need for routine screening of all pregnant women and infants born to hepatitis B positive mothers. Government and non-governmental organizations should intensify efforts to enlighten the general population on the public health importance of the disease and the importance of hepatitis screening. There is also need for the development of a treatment protocol for the management of pregnant women positive for hepatitis B to prevent mother to child transmission. There is an urgent need for the implementation of evidenced-based best practice of providing universal vaccination against hepatitis B for all hepatitis B negative women of child bearing age in particular and all Nigerians in general.


Subject(s)
Hepatitis B , Pregnancy Complications, Infectious , Female , Hepatitis B Surface Antigens , Hepatitis B virus , Hospitals , Humans , Infant , Infectious Disease Transmission, Vertical , Middle Aged , Nigeria , Pregnancy , Pregnant Women , Prevalence , Young Adult
8.
Arq. bras. med. vet. zootec. (Online) ; 71(6): 1821-1828, Nov.-Dec. 2019. tab, graf, ilus
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1055122

ABSTRACT

O objetivo deste estudo foi verificar a capacidade de diferenciação das células-tronco da polpa dentária canina em células progenitoras neurais bem como quantificar obtenção e viabilidade celular, durante três passagens em cultura. As células foram extraídas da polpa dentária de dois cadáveres caninos, com aproximadamente dez meses de idade, que foram a óbito em decorrência de traumatismo automotivo. Após três subculturas, realizou-se avaliação da viabilidade celular por quantificação em câmara de Neubauer. A partir disso, induziu-se diferenciação neural em meio de cultura neurobasal (Gibco™), com células aderidas ao plástico ou suspensas em placas tratadas com agarose. Após sete e 14 dias em cultivo indutor, observou-se morfologia e perfil imunofenotípico utilizando citometria de fluxo e imunocitoquímica fluorescente. Aos 14 dias as células apresentaram alto grau de expressão para marcadores anti-nestina e anti-glial fibrillary acidic protein (anti-GFAP). Anteriormente, obteve-se ao 25º dia, média de 18x106 células viáveis indiferenciadas oriundas do tecido pulpar. Sugere-se que as células-tronco indiferenciadas da polpa dentária canina apresentem índices satisfatórios de diferenciação em células progenitoras neurais, aderidas ou suspensas em cultura. A polpa dentária dos dentes decíduos caninos, fornece células indiferenciadas viáveis em quantidade adequada.(AU)


The objective of this study was to verify the differentiation capacity of canine tooth pulp stem cells in neural progenitor cells as well as to quantify the attainment and viability during three culture passages. The cells were extracted from the dental pulp of two canine cadavers, with approximately ten months of age, which died due to automotive trauma. After three subcultures, cell viability evaluation was performed by Neubauer chamber quantification. Neural differentiation was induced in neurobasal culture medium (Gibco ™), with cells adhered to the plastic or suspended in agarose-treated plates. After seven and 14 days in inducer culture, morphology and immunophenotypic profile were observed using flow cytometry and fluorescent immunocytochemistry. At 14 days the cells had a high degree of expression for anti-nestin and anti-glial fibrillary acidic (anti-GFAP) markers. Previously, an average of 18x106 undifferentiated viable cells from the pulp tissue were obtained on the 25th day. It is suggested that the undifferentiated canine pulp stem cells present satisfactory differentiation indices in neural progenitor cells, adhered or suspended in culture. The dental pulp of deciduous canine teeth provides viable undifferentiated cells in adequate quantity.(AU)


Subject(s)
Animals , Dogs , Dental Pulp/ultrastructure , Neural Stem Cells , Cell- and Tissue-Based Therapy/veterinary , Demyelinating Diseases/veterinary , Flow Cytometry/veterinary
9.
Cereb Cortex ; 28(1): 167-183, 2018 01 01.
Article in English | MEDLINE | ID: mdl-27920095

ABSTRACT

In monkeys, motor outputs from premotor cortex (PM) involve cortico-cortical connections with primary motor cortex (M1). However, in humans, the functional organization of PM and its relationship with the corticospinal tract (CST) is still uncertain. This study was carried out in 21 patients undergoing intraoperative brain mapping prior to tumor resection. The left ventrolateral premotor cortex (vlPM-BA6) was identified preoperatively by functional magnetic resonance imaging, and then investigated intraoperatively using high frequency direct electrical stimulation (HF-DES) of the convexity of M1 and vlPM-BA6, with simultaneous recording of motor-evoked potentials (MEPs) from oro-facial, hand and arm muscles. The somatotopy, organization of evoked responses, latency of MEPs, and cortical excitability of vlPM-BA6 were compared with reference data from M1. vlPM-BA6 was found to be less excitable, with significantly longer MEP latencies than M1. In addition to the pure oro-facial and hand-arm muscle representation, a "transition oro-hand zone" was identified in vlPM-BA6. The longer latency of vlPM-BA6 MEPs suggests that human vlPM could act on spinal motoneurons either directly through more slowly conducting CST fibers or via less direct pathways through M1, brainstem, or spinal mechanisms. The results help in disclosing the very different roles of vlPM and M1 in motor control.


Subject(s)
Arm/physiology , Face/physiology , Hand/physiology , Motor Cortex/physiology , Muscle, Skeletal/physiology , Arm/physiopathology , Brain Mapping/methods , Brain Neoplasms/physiopathology , Brain Neoplasms/surgery , Electric Stimulation , Evoked Potentials, Motor , Face/physiopathology , Functional Laterality , Glioma/physiopathology , Glioma/surgery , Hand/physiopathology , Humans , Intraoperative Neurophysiological Monitoring , Motor Cortex/physiopathology , Motor Cortex/surgery , Movement/physiology , Muscle, Skeletal/physiopathology , Neural Pathways/physiology , Neural Pathways/physiopathology , Neural Pathways/surgery
10.
Neuropsychologia ; 116(Pt B): 194-204, 2018 07 31.
Article in English | MEDLINE | ID: mdl-28733246

ABSTRACT

Twenty-nine patients who underwent surgery for a temporal glioma, either in the left (16 patients) or right (13 patients) hemisphere, were administered standardized tests of unknown voice discrimination (UVD) and of famous voice recognition (VO-REC), which included tasks of familiarity evaluation, semantic identification and naming of famous voices. The UVD consisted of twenty stimuli, in which two audio files were consecutively presented; the subject was requested to judge whether the voices belonged to the same or different persons. In the VO-REC, patients were requested to recognize the voices of 40 very well known people; these voices were intermingled with the voices of 20 unknown people for a familiarity check, followed by identification and naming of persons recognized as familiar. We aimed at verifying the effect of laterality and intra-temporal site of lesion on familiarity assessment, false alarms, identification and naming of familiar people. As for the effect of lesion side, our results showed that patients with right temporal gliomas were significantly more impaired in voices discrimination and produced more false alarms than patients with a left glioma, who, in turn, were significantly more impaired in name retrieval than patients with a right temporal glioma. The high number of false alarms in patients with a right temporal glioma suggests that familiarity judgment was impaired. Regarding the neuroanatomical correlates of these different patterns of impairment, MRI data suggested that: (a) UVD disorders are due to lesions involving the whole right anterior temporal lobe and extending to lateral portions of the temporal and frontal lobes; (b) familiarity judgments (testified by an increased number of false alarms) are impaired in lesions restricted to the right anterior temporal lobe; (c) name retrieval deficits are found only in patients with left temporal lesions. UVD disorders were interpreted, at least in part, as due to an impairment of executive functions, resulting from a disconnection of the right temporal lobe from the frontal lobe control. A partly unexpected finding was that some patients with a right temporal tumour had a normal performance in famous voice recognition and identification, in spite of having severe voice discrimination disturbances. These unexpected results, in agreement with previous observation made in the visual (face) modality, are inconsistent with strictly hierarchical models of voice processing.


Subject(s)
Brain Neoplasms/complications , Functional Laterality/physiology , Glioma/complications , Memory Disorders/etiology , Recognition, Psychology/physiology , Temporal Lobe/pathology , Adult , Aged , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/pathology , Discrimination, Psychological , Famous Persons , Female , Glioma/diagnostic imaging , Glioma/pathology , Humans , Image Processing, Computer-Assisted , Magnetic Resonance Imaging , Male , Middle Aged , Names , Neuropsychological Tests , Retrospective Studies , Temporal Lobe/diagnostic imaging , Voice , Young Adult
11.
J Neurol ; 264(8): 1777-1784, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28695364

ABSTRACT

Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases". We distinguished patients with ocular myopathy as part of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy), and then PEO with isolated ocular myopathy from PEO-plus when PEO was associated with additional features of multisystemic involvement. Ocular myopathy was the most common feature in our cohort of mitochondrial patients. Among the 722 patients with a definite genetic diagnosis, ocular myopathy was observed in 399 subjects (55.3%) and was positively associated with mtDNA single deletions and POLG mutations. Ocular myopathy as manifestation of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy, n = 131) was linked to the m.3243A>G mutation, whereas the other "PEO" patients (n = 268) were associated with mtDNA single deletion and Twinkle mutations. Increased lactate was associated with central neurological involvement. We then defined, among the PEO group, as "pure PEO" the patients with isolated ocular myopathy and "PEO-plus" those with ocular myopathy and other features of neuromuscular and multisystem involvement, excluding central nervous system. The male proportion was significantly lower in pure PEO than PEO-plus. This study reinforces the need for research on the role of gender in mitochondrial diseases. The phenotype definitions here revisited may contribute to a more homogeneous patient categorization, useful in future studies and clinical trials.


Subject(s)
Ophthalmoplegia, Chronic Progressive External/genetics , Ophthalmoplegia, Chronic Progressive External/physiopathology , Adult , Age of Onset , DNA Polymerase gamma/genetics , DNA, Mitochondrial , Female , GTP Phosphohydrolases/genetics , Genetic Association Studies , Humans , Italy , Male , Mutation , Ophthalmoplegia, Chronic Progressive External/diagnosis , Ophthalmoplegia, Chronic Progressive External/epidemiology , Phenotype , Retrospective Studies , Young Adult
12.
Sci Rep ; 6: 29898, 2016 07 19.
Article in English | MEDLINE | ID: mdl-27432282

ABSTRACT

Irisin is processed from fibronectin type III domain-containing protein 5 (FNDC5). However, a controversy exists concerning irisin origin, regulation and function. To elucidate the relationship between serum irisin and FNDC5 mRNA expression levels, we evaluated plasma irisin levels and FNDC5 gene expression in the hypothalamus, gastrocnemius muscle and different depots of adipose tissue in models of altered metabolism. In normal rats, blood irisin levels diminished after 48-h fast and with leptin, insulin and alloxan treatments, and serum irisin concentrations increased in diabetic rats after insulin treatment and acute treatments of irisin increased blood insulin levels. No changes were observed during long-term experiments with different diets. We suggested that levels of circulating irisin are the result of the sum of the irisin produced by different depots of adipose tissue and skeletal muscle. This study shows for the first time that there are differences in FNDC5 expression depending on white adipose tissue depots. Moreover, a considerable decrease in visceral and epididymal adipose tissue depots correlated with increased FNDC5 mRNA expression levels, probably in an attempt to compensate the decrease that occurs in their mass. Hypothalamic FNDC5 expression did not change for any of the tested diets but increased with leptin, insulin and metformin treatments suggesting that the regulation of central and peripheral FNDC5/irisin expression and functions are different.


Subject(s)
Diabetes Mellitus, Experimental/genetics , Fibronectins/blood , Fibronectins/genetics , Obesity/genetics , Adipose Tissue/metabolism , Animals , Diabetes Mellitus, Experimental/blood , Diabetes Mellitus, Experimental/pathology , Diet , Fibronectins/metabolism , Humans , Hypothalamus/metabolism , Leptin/genetics , Leptin/metabolism , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Obesity/blood , Obesity/pathology , Rats , Tissue Distribution/genetics
13.
Orphanet J Rare Dis ; 11(1): 91, 2016 07 07.
Article in English | MEDLINE | ID: mdl-27387980

ABSTRACT

BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions. RESULTS: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps. CONCLUSION: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.


Subject(s)
Cardiac Myosins/metabolism , Muscular Diseases/diagnosis , Myosin Heavy Chains/metabolism , Adolescent , Adult , Aged , Cardiac Myosins/genetics , Child , Child, Preschool , Female , Genotype , Humans , Infant , Infant, Newborn , Lower Extremity/pathology , Magnetic Resonance Imaging , Male , Middle Aged , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscular Diseases/pathology , Mutation/genetics , Myosin Heavy Chains/genetics , Pedigree , Phenotype , Young Adult
14.
Eur J Neurol ; 23(6): 1134-6, 2016 06.
Article in English | MEDLINE | ID: mdl-27141859

ABSTRACT

BACKGROUND AND PURPOSE: Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype. METHODS: We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients. RESULTS: No relationship between polyG size or polyG/polyQ haplotypes and clinical phenotype was found. An independent negative correlation between polyQ-length and onset of weakness was confirmed (P < 0.001). CONCLUSIONS: The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.


Subject(s)
Muscular Atrophy, Spinal/genetics , Polymorphism, Single Nucleotide , Receptors, Androgen/genetics , Alleles , Haplotypes , Humans , Peptides/genetics , Phenotype , Poly G/genetics
15.
Int J Med Robot ; 12(3): 326-41, 2016 Sep.
Article in English | MEDLINE | ID: mdl-26230996

ABSTRACT

BACKGROUND: Cooperatively-controlled robotic assistance could provide increased positional accuracy and stable and safe tissue targeting tasks during open-skull neurosurgical procedures, which are currently performed free-hand. METHODS: Two enhanced torque-based impedance control approaches, i.e. a variable damping criterion and a force-feedback enhancement control, were proposed in combination with an image-based navigation system. Control systems were evaluated on brain-mimicking phantoms by 13 naive users and 8 neurosurgeons (4 novices and 4 experts). RESULTS: In addition to a 60% reduction of user effort, the combination of the proposed strategies showed comparable performances with respect to state-of-the-art admittance controller, thus satisfying the clinical accuracy requirements (below 1 mm), reducing the hand tremor (by a factor of 10) and the tissue's indentation overshooting (by 80%). CONCLUSION: Although the perceived reliability of the system should be improved, the proposed control was suitable to assist targeting procedures, such as brain cortex stimulation, allowing for accurate, stable and safe contact with soft tissues. Copyright © 2015 John Wiley & Sons, Ltd.


Subject(s)
Electric Impedance , Neurosurgical Procedures/methods , Skull/surgery , Torque , Evaluation Studies as Topic , Feasibility Studies , Humans , Robotic Surgical Procedures
16.
Minerva Anestesiol ; 81(4): 379-88, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25057931

ABSTRACT

BACKGROUND: The identification of risk factors associated with perioperative seizures would be of great benefit to the anesthesiologist in managing brain tumor patients undergoing craniotomy with intraoperative brain mapping. METHODS: A series of 316 supratentorial craniotomies for tumor resection, in which intraoperative brain mapping was used, were analyzed. From January 2005 to December 2010 the occurrence of intraoperative and immediate postoperative clinical seizures was prospectively recorded into a database. Demographic data, tumor characteristics, preoperative seizure control, intraoperative events and anesthetic management were evaluated as risk factors for intraoperative clinical seizures. Additionally, the association between intraoperative clinical seizures and immediate postoperative seizures was evaluated. In order to determine the best predictors of intraoperative and immediate postoperative clinical seizures, a multivariable analysis by logistic regression was performed. RESULTS: Younger age, location of the tumor in the frontal and parietal lobe, brain mapping conducted under general anesthesia and non physiologic values of arterial carbon dioxide (PaCO2) during brain mapping were independent positive risk factors for the development of intraoperative clinical seizures. Location of tumor in the frontal lobe, antiepileptic polytherapy, intraoperative seizures requiring pharmacologic treatment during brain mapping, and blood on postoperative CT scan were independent positive risk factors for the development of immediate postoperative seizures. CONCLUSION: Clinical seizures are common intraoperative and postoperative complications of supratentorial craniotomies with intraoperative brain mapping. The identification of those patients at higher risk of seizures may guide intraoperative and postoperative medical management.


Subject(s)
Brain Mapping/adverse effects , Craniotomy/adverse effects , Intraoperative Complications/epidemiology , Postoperative Complications/epidemiology , Seizures/epidemiology , Adult , Age Factors , Aged , Carbon Dioxide/blood , Female , Humans , Intraoperative Neurophysiological Monitoring , Male , Middle Aged , Perioperative Period , Retrospective Studies , Risk Factors , Seizures/etiology , Supratentorial Neoplasms/surgery
17.
Rev. esp. med. nucl. imagen mol. (Ed. impr.) ; 33(4): 234-236, jul.-ago. 2014. ilus
Article in English | IBECS | ID: ibc-125260

ABSTRACT

Carbon-11 methionine (11C-Methionine) is a radio-labeled amino acid currently utilized in Positron Emission Tomography (PET) for imaging primary and metastatic brain tumors. Its clinical use relies mostly on oncologic applications, but the tracer has the potential to investigate other non-malignant conditions. So far, very limited evidence concerns the use of 11C-Methionine in patients suffering from seizure; however, the tracer can find a proper utilization in this setting especially as a diagnostic complement to 18F-Fluorodeoxyglucose (18F-FDG). Herein we report the case of a 57-year-old patient presenting with epileptic crises secondary to a brain metastasis from bladder carcinoma, who was investigated in our institution with 11C-Methionine PET. The scan documented the disease recurrence in the left parietal lobe associated with a diffused tracer uptake in the surrounding cerebral circumvolutions, derived from the comitial status. After surgical removal of the metastatic lesion, the patient experienced a complete recovery of symptoms and no further onset of secondary seizure (AU)


La 11C-metionina es un aminoácido radiomarcado que se utiliza actualmente en la tomografía por emisión de positrones (PET) para obtener imágenes de tumores cerebrales primarios y metastáticos. Su aplicación clínica más extendida es la oncología, pero tiene el potencial de investigar otras situaciones no oncológicas. Hasta el momento existe una limitada evidencia del uso de 11C-metionina en pacientes con crisis convulsiva; sin embargo, el radiotrazador puede tener utilidad en este campo especialmente como complemento diagnóstico de la 18F-fluorodeoxiglucosa (18F-FDG). Presentamos el caso de un paciente de 57a˜nos de edad con crisis epilépticas secundarias a metástasis cerebrales de un carcinoma de vejiga que fue explorado en nuestra Institución con 11C-metionina PET. El estudio demostró la recidiva de la enfermedad en el lóbulo parietal izquierdo asociada con captación difusa en las circunvoluciones cerebrales de alrededor, derivada del status comicial. Después de la extirpación quirúrgica de la metástasis cerebral, el paciente experimentó una recuperación completa de los síntomas sin posterior inicio de crisis convulsivas secundarias (AU)


Subject(s)
Humans , Male , Middle Aged , Epilepsy/diagnosis , Methionine , Positron-Emission Tomography/methods , Brain Neoplasms , Fluorodeoxyglucose F18 , Neoplasm Metastasis , Urinary Bladder Neoplasms/pathology
18.
Rev Esp Med Nucl Imagen Mol ; 33(4): 234-6, 2014.
Article in English | MEDLINE | ID: mdl-24630372

ABSTRACT

Carbon-11 methionine ((11)C-Methionine) is a radio-labeled amino acid currently utilized in Positron Emission Tomography (PET) for imaging primary and metastatic brain tumors. Its clinical use relies mostly on oncologic applications, but the tracer has the potential to investigate other non-malignant conditions. So far, very limited evidence concerns the use of (11)C-Methionine in patients suffering from seizure; however, the tracer can find a proper utilization in this setting especially as a diagnostic complement to (18)F-Fluorodeoxyglucose ((18)F-FDG). Herein we report the case of a 57-year-old patient presenting with epileptic crises secondary to a brain metastasis from bladder carcinoma, who was investigated in our institution with (11)C-Methionine PET. The scan documented the disease recurrence in the left parietal lobe associated with a diffused tracer uptake in the surrounding cerebral circumvolutions, derived from the comitial status. After surgical removal of the metastatic lesion, the patient experienced a complete recovery of symptoms and no further onset of secondary seizure.


Subject(s)
Brain Neoplasms/diagnostic imaging , Epilepsy/diagnostic imaging , Methionine , Positron-Emission Tomography , Radiopharmaceuticals , Brain Neoplasms/metabolism , Brain Neoplasms/secondary , Epilepsy/etiology , Female , Humans , Methionine/pharmacokinetics , Middle Aged
19.
Auto Immun Highlights ; 5(3): 87-94, 2014 Dec.
Article in English | MEDLINE | ID: mdl-26000160

ABSTRACT

Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by inflammation of the skeletal muscle. Weakness, mainly affecting the proximal muscles, is the cardinal muscular symptom in IIM. In patients with dermatomyositis, peculiar skin lesions are observed. The assessment of patients with IIM includes clinical and laboratory evaluation, and clinimetric measurements. Different tools have been proposed to measure muscular and extramuscular disease activity and damage in patients with IIM. A core set of measurements to use in clinical practice was recently proposed. Among laboratory features the increase of serum creatine kinase (CK) is considered a hallmark of muscle inflammation/damage. However, subjects with persistent CK elevation, without any evidence of a definite myopathy, are often seen in clinical practice and need a careful assessment. Indeed, CK blood levels can also increase in non-myopathic conditions, e.g. in case of intense physical exercise, assumption of some drugs (statins), muscular dystrophy, muscular trauma or in case of neuro-muscular disorders which all should be considered in the diagnostic work-up. The assessment of patients with IIM and hyperCKemia will be discussed in this paper.

20.
J Neurosurg Sci ; 56(2): 137-43, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22617176

ABSTRACT

AIM: This work reports the analysis of the relationship between inferior fronto-occipital fasciculus (IFO), neoplastic lesions and surgical resection, in patients operated for gliomas located in the frontal, temporal and insular lobes of the dominant hemisphere. Aim of the study is evaluating the predictive value of inferior fronto-occipital fasciculus DTI-fiber tracking (FT) for determining the extent of resection preoperatively. METHODS: We selected 38 cases affected by lesions located in the frontal, temporal and insular lobes of the dominant hemisphere, which were related to the trajectory of the IFO. For each patient preoperative and postoperative MR images and DTI-FT were loaded into the neuronavigation system and merged; volumetric scan analysis was used for establishing tumor location and topography, as well as the volume of the lesion and of the residual tumor. All preoperative fiber tracking datasets were evaluated and the position of the tract (IFO) compared to the tumor was recorded. Postoperative MR scans were then compared with DTI-FT, in order to evaluate the correspondence between the resection boundaries and the trajectory of the fiber tract. RESULTS: Amongst the cases in which the IFO was inside the lesion, we found only incomplete resections (5 subtotal and 6 partial resections), while considering the cases in which the IFO was located outside the tumor, it was possible to perform a relevant (total/subtotal) resection in 18 of them (78%). CONCLUSION: FT of the inferior frontal-occipital fasciculus predicts the possibility and the extent of the resection for a frontal, temporal and/or insular lesion of the dominant hemisphere.


Subject(s)
Brain Neoplasms/pathology , Brain Neoplasms/surgery , Cerebral Cortex/surgery , Glioma/pathology , Glioma/surgery , Adult , Cerebral Cortex/pathology , Female , Humans , Image Processing, Computer-Assisted , Magnetic Resonance Imaging , Male , Middle Aged , Neurosurgical Procedures , Predictive Value of Tests
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