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1.
J Endocrinol Invest ; 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38630213

RESUMO

AIM: This guideline (GL) is aimed at providing a clinical practice reference for the management of adult patients with overweight or obesity associated with metabolic complications who are resistant to lifestyle modification. METHODS: Surgeons, endocrinologists, gastroenterologists, psychologists, pharmacologists, a general practitioner, a nutritionist, a nurse and a patients' representative acted as multi-disciplinary panel. This GL has been developed following the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. A systematic review and network meta-analysis was performed by a methodologic group. For each question, the panel identified potentially relevant outcomes, which were then rated for their impact on therapeutic choices. Only outcomes classified as "critical" and "important" were considered in the systematic review of evidence. Those classified as "critical" were considered for clinical practice recommendations. Consensus on the direction (for or against) and strength (strong or conditional) of recommendations was reached through a majority vote. RESULTS: The present GL provides recommendations about the role of both pharmacological and surgical treatment for the clinical management of the adult patient population with BMI > 27 kg/m2 and < 40 kg/m2 associated with weight-related metabolic comorbidities, resistant to lifestyle changes. The panel: suggests the timely implementation of therapeutic interventions in addition to diet and physical activity; recommends the use of semaglutide 2.4 mg/week and suggests liraglutide 3 mg/day in patients with obesity or overweight also affected by diabetes or pre-diabetes; recommends semaglutide 2.4 mg/week in patients with obesity or overweight also affected by non-alcoholic fatty liver disease; recommends semaglutide 2.4 mg/week as first-line drug in patients with obesity or overweight that require a larger weight loss to reduce comorbidities; suggests the use of orlistat in patients with obesity or overweight also affected by hypertriglyceridemia that assume high-calorie and high-fat diet; suggests the use of naltrexone/bupropion combination in patients with obesity or overweight, with emotional eating; recommends surgical intervention (sleeve gastrectomy, Roux-en-Y gastric bypass, or metabolic gastric bypass/gastric bypass with single anastomosis/gastric mini bypass in patients with BMI ≥ 35 kg/m2 who are suitable for metabolic surgery; and suggests gastric banding as a possible, though less effective, surgical alternative. CONCLUSION: The present GL is directed to all physicians addressing people with obesity-working in hospitals, territorial services or private practice-and to general practitioners and patients. The recommendations should also consider the patient's preferences and the available resources and expertise.

2.
Clin Neurol Neurosurg ; 197: 106180, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32877767

RESUMO

OBJECTIVES: Cavernous malformations (CM) are low-flow vascular lesions that can cause significant symptoms and neurological deficits. Different intraoperative surgical approaches have been developed. Aim of the present investigation is the comparison between the trans-sulcal approach (TS) and the trans-parenchymal neuronavigation-assisted approach (TPN) in a surgical series from two neurosurgical centers. The technique and clinical outcomes are discussed, with a specific focus on seizure outcome. PATIENTS AND METHODS: Clinical and radiological data from two neurosurgical centers ("A. Gemelli" Hospital in Rome and A.O.U. Città della Salute e della Scienza in Turin) were retrospectively reviewed in order to evaluate the different outcome of TS and TPN approach for cavernous malformation treatment. RESULTS: A total of 177 patients underwent surgical intervention for supratentorial CM, 130 patients with TPN approach and 47 with TS approach. TS approach was associated with higher rate of seizure in early post-operative period both in epileptic patients (p < 0,001) and in patients without history of seizures before surgery (p = 0,002). Moreover, length of incision (p < 0,001), area of craniotomy (p < 0,001) and corticectomy (p < 0,001) were bigger in TS than in TPN approach. Brain contusion (p < 0,001) and fluid collection (p < 0,001) were more likely to be discovered after TS approach. CONCLUSIONS: TPN is a valuable approach for resection of CM. Minor complications are significantly lower in TPN approach when compared with TS approach. In addition, it is associated with lower rate of early post-operative seizure and shorter length of stay.


Assuntos
Neoplasias do Sistema Nervoso Central/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Procedimentos Neurocirúrgicos/métodos , Adulto , Craniotomia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
3.
Ann Biomed Eng ; 48(10): 2466-2483, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32472365

RESUMO

Obesity is one of the main health concerns worldwide. Bariatric Surgery (BS) is the gold standard treatment for severe obesity. Nevertheless, unsatisfactory weight loss and complications can occur. The efficacy of BS is mainly defined on experiential bases; therefore, a more rational approach is required. The here reported activities aim to show the strength of experimental and computational biomechanics in evaluating stomach functionality depending on bariatric procedure. The experimental activities consisted in insufflation tests on samples of swine stomach to assess the pressure-volume behaviour both in pre- and post-surgical configurations. The investigation pertained to two main bariatric procedures: adjustable gastric banding (AGB) and laparoscopic sleeve gastrectomy (LSG). Subsequently, a computational model of the stomach was exploited to validate and to integrate results from experimental activities, as well as to broad the investigation to a wider scenario of surgical procedures and techniques. Furthermore, the computational approach allowed analysing stress and strain fields within stomach tissues because of food ingestion. Such fields elicit mechanical stimulation of gastric receptors, contributing to release satiety signals. Pressure-volume curves assessed stomach capacity and stiffness according to the surgical procedure. Both AGB and LSG proved to reduce stomach capacity and to increase stiffness, with markedly greater effect for LSG. At an internal pressure of 5 kPa, outcomes showed that in pre-surgical configuration the inflated volume was about 1000 mL, after AGB the inflated volume was slightly lower, while after LSG it fell significantly, reaching 100 mL. Computational modelling techniques showed the influence of bariatric intervention on mechanical stimulation of gastric receptors due to food ingestion. AGB markedly enhanced the mechanical stimulation within the fundus region, while LSG significantly reduced stress and strain intensities. Further computational investigations revealed the potentialities of hybrid endoscopic procedures to induce both reduction of stomach capacity and enhancement of gastric receptors mechanical stimulation. In conclusion, biomechanics proved to be useful for the investigation of BS effects. Future exploitations of the biomechanical methods may largely improve BS reliability, efficacy and penetration rate.


Assuntos
Cirurgia Bariátrica/instrumentação , Cirurgia Bariátrica/métodos , Modelos Biológicos , Estômago/fisiologia , Animais , Fenômenos Biomecânicos , Engenharia Biomédica , Ingestão de Alimentos , Desenho de Equipamento , Laparoscopia , Estimulação Física , Suínos
4.
J Endocrinol Invest ; 43(2): 209-217, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31452114

RESUMO

PURPOSE: Growth hormone deficiency (GHD) is the most prevalent hypothalamic-pituitary (HP) disorder found in childhood cancer survivors (CCS). The published studies assessing GHD in CCS concluded that recombinant human GH (rhGH) does not restore final height (FH) to that predicted from mid-parental height (MPH). Thus, wider analyses on final height outcomes after rhGH in CCS are needed. METHODS: Retrospective study on final height (FH) in 87 CCS treated with rhGH. Patients were divided into: Group A (n =48) who underwent cranial radiotherapy or had non-irradiated tumours of HP area, and B (n =39) who were treated with craniospinal or total body irradiation (TBI). 19/87 patients with central precocious/early puberty also received GnRH analogues. RESULTS: Height (HT) gain after 1 and 2 years of rhGH was 0.38 ± 0.35 SDS and 0.18 ± 0.30 SDS, respectively (P < 0.0001); mean FH was in the normal range (- 0.85 ± 1.34 SDS), though not significantly different from HT SDS at baseline. 67% overall failed to reach MPH especially in Group B (P < 0.0001). However, height loss (HT SDS-MPH SDS) at FH improved or remained stable compared to baseline in 26/45 patients (58%). On stepwise regression analysis, major determinants of FH were HT at baseline (P < 0.0001) and delay before start of rhGH (P = 0.012). There was no significant difference in FH when GnRHa was added to rhGH. CONCLUSION: rhGH and GnRH analogues therapy, when indicated, though failing to induce catch-up growth, prevented further height loss leading to a FH within the normal range but still below MPH, this latter being statistically significant in children who received craniospinal and TBI.


Assuntos
Estatura/efeitos dos fármacos , Sobreviventes de Câncer , Nanismo Hipofisário/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Maturidade Sexual/efeitos dos fármacos , Adolescente , Estatura/fisiologia , Criança , Pré-Escolar , Nanismo Hipofisário/epidemiologia , Feminino , Hormônio do Crescimento Humano/farmacologia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Maturidade Sexual/fisiologia , Adulto Jovem
5.
Eur J Neurol ; 26(1): 5-17, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30035844

RESUMO

Clinical practice in dystonia has greatly evolved in recent years; a synthetic review on patient management is provided here. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures or both. A recent classification has innovated clinical practice and serves as guidance for clinical assessment: Axis I describes clinical features, whereas Axis II indicates etiology. Dystonia presents with different syndromic aggregations with varied somatic involvement and some common features. There are five recognizable physical signs of dystonia: two main signs (dystonic postures and movements) and three additional signs (gestes antagonistes or tricks, mirror dystonia and overflow dystonia). There is still no validation of diagnostic criteria for the different dystonia syndromes, and many cases with mild phenomenology remain undiagnosed. Patients with dystonia also present non-motor features that are variably combined with the movement disorder. The features of the most common inherited and acquired dystonia syndromes are reviewed here. There is clear evidence of genetic-environmental interaction in the determinism of dystonia. The diagnostic process is guided by clinical examination and based on specific laboratory examinations. Symptomatic treatments are available for dystonia: botulinum neurotoxin injections are the primary choice for most focal dystonia syndromes; deep brain stimulation is useful in some generalized and non-generalized syndromes. Additional treatment strategies are currently being assessed.


Assuntos
Distonia/diagnóstico , Distonia/terapia , Distonia/epidemiologia , Distonia/genética , Humanos
6.
Obes Surg ; 28(11): 3714-3716, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30182333

RESUMO

Laparoscopic sleeve gastrectomy (LSG) is the most performed surgical procedure worldwide. Long-term outcomes report that up to 30% of patients require revisional surgery and re-sleeve gastrectomy (rLSG) is one of the revisional procedures available. The aim was to update the outcomes of a cohort of rLSG at 52 months. This study reports the 52-month follow-up of a cohort of 19 patients previously published after 24-month follow-up. Sixteen patients completed the follow-up. Nine patients complained of GERD symptoms after 36 months. Five patients were converted to laparoscopic RYGB. Two patients were converted to a laparoscopic BPD-DS for weight regain 4 patients are asymptomatic with stable weight. On the basis of our disappointing results, it can be said that rLSG is not currently offered as revisional procedure in both centers.


Assuntos
Cirurgia Bariátrica/métodos , Gastrectomia/efeitos adversos , Obesidade Mórbida/cirurgia , Reoperação/métodos , Cirurgia Bariátrica/efeitos adversos , Seguimentos , Refluxo Gastroesofágico/etiologia , Humanos , Laparoscopia , Reoperação/efeitos adversos , Estudos Retrospectivos , Falha de Tratamento , Redução de Peso
7.
Neurol Sci ; 39(5): 975, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29687311

RESUMO

In the original article, Gina Ferrazzano was affiliated to Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.The corrected affiliation should be: Neuromed Institute IRCCS, Pozzilli, IS, Italy.

8.
Eur J Neurol ; 25(2): 275-283, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29053896

RESUMO

BACKGROUND AND PURPOSE: The quality of clinical practice guidelines on dystonia has not yet been assessed. Our aim was to appraise the methodological quality of guidelines worldwide and to analyze the consistency of their recommendations. METHODS: We searched for clinical practice guidelines on dystonia diagnosis/treatment in the National Guideline Clearinghouse, PubMed, National Institute for Health and Care Excellence, Guidelines International Network and Web of Science databases. We also searched for guidelines on homepages of international neurological societies. We asked for guidelines from every Management Committee member of the BM1101 Action of the Cooperation between Science and Technology European framework and every member of the International Parkinson and Movement Disorders Society with special interest in dystonia. RESULTS: Fifteen guidelines were evaluated. Among guidelines on treatment, only one from the American Academy of Neurology could be considered as high quality. Among guidelines on diagnosis and therapy, the guideline from the European Federation of Neurological Societies was recommended by the appraisers. Clinical applicability and reports of editorial independence were the greatest shortcomings. The rigor of development was poor and stakeholder involvement was also incomplete in most guidelines. Discrepancies among recommendations may result from the weight given to consensus statements and expert opinions due to the lack of evidence, as well as inaccuracy of disease classification. CONCLUSIONS: The quality of appraised guidelines was low. It is necessary to improve the quality of guidelines on dystonia, and the applied terminology of dystonia also needs to be standardized.


Assuntos
Distonia/diagnóstico , Distonia/terapia , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/terapia , Guias de Prática Clínica como Assunto/normas , Humanos
9.
Vet Microbiol ; 208: 8-17, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28888654

RESUMO

PROBLEM ADDRESSED: Shiga toxin-producing Escherichia coli (STEC) are a group of bacteria responsible for food-associated diseases. Clinical features include a wide range of symptoms such as diarrhea, hemorrhagic colitis and the hemolytic uremic syndrome (HUS), a life-threatening condition. OBJECTIVE: Our group has observed that animals naturally colonized with STEC strains of unknown serotype were not efficiently colonized with E. coli O157:H7 after experimental infection. In order to assess the basis of the interference, three STEC strains were isolated from STEC persistently-colonized healthy cattle from a dairy farm in Buenos Aires, Argentina. METHODS AND RESULTS: The three isolated strains are E. coli O22:H8 and carry the stx1 and stx2d genes. The activatable activity of Stx2d was demonstrated in vitro. The three strains carry the adhesins iha, ehaA and lpfO113. E. coli O22:H8 formed stronger biofilms in abiotic surface than E. coli O157:H7 (eae+, stx2+) and displayed a more adherent phenotype in vitro towards HeLa cells. Furthermore, when both serotypes were cultured together O22:H8 could reduce O157:H7 adherence in vitro. When calves were intragastrically pre-challenged with 108 CFU of a mixture of the three STEC strains and two days later challenged with the same dose of the strain E. coli O157:H7 438/99, the shedding of the pathogen was significantly reduced. CONCLUSIONS: These results suggest that E. coli O22:H8, a serotype rarely associated with human illness, might compete with O157:H7 at the bovine recto-anal junction, making non-O157 carrying-calves less susceptible to O157:H7 colonization and shedding of the bacteria to the environment.


Assuntos
Aderência Bacteriana/fisiologia , Doenças dos Bovinos/microbiologia , Infecções por Escherichia coli/veterinária , Escherichia coli Shiga Toxigênica/fisiologia , Animais , Antibacterianos/farmacologia , Biofilmes , Bovinos , Chlorocebus aethiops , Farmacorresistência Bacteriana , Infecções por Escherichia coli/microbiologia , Escherichia coli O157 , Feminino , Regulação Bacteriana da Expressão Gênica , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Escherichia coli Shiga Toxigênica/genética , Células Vero , Virulência , Fatores de Virulência/genética , Fatores de Virulência/metabolismo
10.
Neurol Sci ; 38(8): 1505-1508, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28478496

RESUMO

The study aimed to evaluate safety and efficacy of shifting stimulation settings from constant-voltage (CV) to constant-current (CC) programming in patients with Parkinson's disease (PD) and chronic subthalamic nucleus deep brain stimulation (STN DBS). Twenty PD patients with chronic STN DBS set in CV programming were shifted to CC and followed for 3 months; the other stimulation settings and the medication regimen remained unchanged. Side effects, motor, non-motor, executive functions, and impedance were assessed at baseline and during follow-up. No adverse events were observed at time of shifting or during CC stimulation. Motor and non-motor measures remained unchanged at follow-up despite impedance decreased. Compared to baseline, inhibition processes improved at follow-up. The shifting strategy was well tolerated and the clinical outcome was maintained with no need to adjust stimulation settings or medications notwithstanding a decrease of impedance. Improvement of inhibition processes is a finding which needed further investigation.


Assuntos
Estimulação Encefálica Profunda/métodos , Doença de Parkinson/terapia , Feminino , Seguimentos , Humanos , Inibição Psicológica , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Estatísticas não Paramétricas , Núcleo Subtalâmico/fisiologia
11.
Neurol Sci ; 38(5): 819-825, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28215037

RESUMO

The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.


Assuntos
Distonia/diagnóstico , Distonia/epidemiologia , Sistema de Registros , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Distonia/fisiopatologia , Distonia/psicologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Adulto Jovem
12.
Eur J Neurol ; 24(4): 552-560, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28186378

RESUMO

The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. Eligible studies were identified after a systematic literature review of the effects of bilateral GPi-DBS in isolated dystonia. Absolute and percentage changes from baseline in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor and disability scores were pooled, and associations between treatment effect and patient characteristics were explored using meta-regression. In total, 24 studies were included in the meta-analysis, comprising 523 patients. The mean absolute and percentage improvements in BFMDRS motor score at the last follow-up (mean 32.5 months; 24 studies) were 26.6 points [95% confidence interval (CI), 22.4-30.8] and 65.2% (95% CI, 59.6-70.7), respectively. The corresponding changes in disability score at the last follow-up (mean 32.9 months; 14 studies) were 6.4 points (95% CI, 5.0-7.8) and 58.6% (95% CI, 50.3-66.9). Multivariate meta-regression of absolute scores indicated that higher BFMDRS motor and disability scores before surgery, together with younger age at time of surgery, were the main factors associated with significantly better DBS outcomes at the latest follow-up. Reporting of safety data was frequently inconsistent and could not be included in the meta-analysis. In conclusion, patients with isolated inherited or idiopathic dystonia significantly improved after GPi-DBS. Better outcomes were associated with greater dystonia severity at baseline. These findings should be taken into consideration for improving patient selection for DBS.


Assuntos
Estimulação Encefálica Profunda/métodos , Distonia/terapia , Distúrbios Distônicos/terapia , Globo Pálido/fisiopatologia , Humanos , Resultado do Tratamento
13.
Eur J Neurol ; 23(4): 772-9, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26826067

RESUMO

BACKGROUND AND PURPOSE: Dystonia is difficult to recognize due to its large phenomenological complexity. Thus, the use of experts in dystonia is essential for better recognition and management of dystonia syndromes (DS). Our aim was to document managing strategies, facilities and expertise available in various European countries in order to identify which measures should be implemented to improve the management of DS. METHODS: A survey was conducted, funded by the Cooperation in Science and Technology, via the management committee of the European network for the study of DS, which is formed from representatives of the 24 countries involved. RESULTS: Lack of specific training in dystonia by general neurologists, general practitioners as well as other allied health professionals was universal in all countries surveyed. Genetic testing for rare dystonia mutations is not readily available in a significant number of countries and neurophysiological studies are difficult to perform due to a lack of experts in this field of movement disorders. Tetrabenazine is only readily available for treatment of dystonia in half of the surveyed countries. Deep brain stimulation is available in three-quarters of the countries, but other surgical procedures are only available in one-quarter of countries. CONCLUSIONS: Internationally, collaboration in training, advanced diagnosis, treatment and research of DS and, locally, in each country the creation of multidisciplinary teams for the management of dystonia patients could provide the basis for improving all aspects of dystonia management across Europe.


Assuntos
Distúrbios Distônicos/terapia , União Europeia/estatística & dados numéricos , Clínicos Gerais/estatística & dados numéricos , Neurologia/estatística & dados numéricos , Distúrbios Distônicos/tratamento farmacológico , Clínicos Gerais/educação , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Humanos , Neurologia/educação
14.
15.
Eur J Neurol ; 23(1): 45-52, 2016 01.
Artigo em Inglês | MEDLINE | ID: mdl-25664595

RESUMO

BACKGROUND AND PURPOSE: Tauroursodeoxycholic acid (TUDCA) is a hydrophilic bile acid that is produced in the liver and used for treatment of chronic cholestatic liver diseases. Experimental studies suggest that TUDCA may have cytoprotective and anti-apoptotic action, with potential neuroprotective activity. A proof of principle approach was adopted to provide preliminary data regarding the efficacy and tolerability of TUDCA in a series of patients with amyotrophic lateral sclerosis (ALS). METHODS: As a proof of principle, using a double-blind placebo controlled design, 34 ALS patients under treatment with riluzole who were randomized to placebo or TUDCA (1 g twice daily for 54 weeks) were evaluated after a lead-in period of 3 months. The patients were examined every 6 weeks. The primary outcome was the proportion of responders [those subjects with improvement of at least 15% in the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R) slope during the treatment period compared to the lead-in phase]. Secondary outcomes included between-treatment comparison of ALSFRS-R at study end, comparison of the linear regression slopes for ALSFFRS-R mean scores and the occurrence of adverse events. RESULTS: Tauroursodeoxycholic acid was well tolerated; there were no between-group differences for adverse events. The proportion of responders was higher under TUDCA (87%) than under placebo (P = 0.021; 43%). At study end baseline-adjusted ALSFRS-R was significantly higher (P = 0.007) in TUDCA than in placebo groups. Comparison of the slopes of regression analysis showed slower progression in the TUDCA than in the placebo group (P < 0.01). CONCLUSIONS: This pilot study provides preliminary clinical data indicating that TUDCA is safe and may be effective in ALS.


Assuntos
Esclerose Lateral Amiotrófica/tratamento farmacológico , Fármacos Neuroprotetores/farmacologia , Avaliação de Resultados em Cuidados de Saúde , Riluzol/uso terapêutico , Ácido Tauroquenodesoxicólico/farmacologia , Adulto , Idoso , Método Duplo-Cego , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fármacos Neuroprotetores/administração & dosagem , Fármacos Neuroprotetores/efeitos adversos , Projetos Piloto , Ácido Tauroquenodesoxicólico/administração & dosagem , Ácido Tauroquenodesoxicólico/efeitos adversos
16.
Clin Genet ; 89(4): 501-506, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26497935

RESUMO

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction (IUGR) <10th percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

18.
Biomed Res Int ; 2015: 290679, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26167480

RESUMO

Escherichia coli O157:H7 is the main causative agent of haemolytic uremic syndrome. Cattle are the main reservoir of these bacteria, and have been shown to develop immune response to colonization. Our aim was to investigate the faecal shedding pattern of E. coli O157:H7 in calves challenged intragastrically with either 10(8) or 10(10) CFU, as well as the ability of specific preexisting antibodies to reduce shedding of the pathogen. Shedding was analysed by direct counting as well as enrichment of rectoanal mucosal swabs. Statistical analysis was performed using a linear model for repeated measures with and without the inclusion of preexisting antibodies against the carboxy-terminal fraction of intimin-γ (γ-intimin C280) as a covariable. Results suggest that there is a statistical difference in the area under the shedding curves between both doses for 14 as well as 28 days after challenge (p = 0.0069 and 0.0209, resp.). This difference is increased when the prechallenge antibodies are taken into account (p = 0.0056 and 0.0185). We concluded that the bacterial dose influences shedding on calves experimentally challenged and that preexisting antibodies against E. coli O157:H7 γ-intimin C280 could partially reduce faecal excretion.


Assuntos
Derrame de Bactérias/imunologia , Infecções por Escherichia coli , Escherichia coli O157 , Proteínas de Escherichia coli/imunologia , Interações Hospedeiro-Patógeno/imunologia , Fosfoproteínas/imunologia , Animais , Anticorpos Antibacterianos/sangue , Bovinos , Doenças dos Bovinos/imunologia , Doenças dos Bovinos/microbiologia , Modelos Animais de Doenças , Infecções por Escherichia coli/imunologia , Infecções por Escherichia coli/microbiologia , Infecções por Escherichia coli/veterinária , Escherichia coli O157/química , Escherichia coli O157/imunologia , Escherichia coli O157/patogenicidade , Masculino
19.
Eur J Neurol ; 22(3): 426-e32, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25382808

RESUMO

BACKGROUND AND PURPOSE: There is increasing evidence that deep brain stimulation (DBS) of the globus pallidus internus (GPi) is effective in patients with idiopathic or inherited generalized dystonia. There is comparatively less experience about the effects of GPi DBS on acquired dystonia, particularly dystonia due to cerebral palsy (DCP). Clinical and demographic outcome predictors for DBS in dystonia syndromes are also poorly defined. Our aim was to examine the efficacy and safety of GPi DBS for the treatment of generalized DCP. METHODS: Fifteen patients with DCP up to 6.2 years after DBS surgery were studied. Only mild limb spasticity or mild static brain magnetic resonance imaging abnormalities were acceptable for inclusion. Dystonia severity and disability were assessed by the Burke-Fahn-Marsden dystonia rating scale (BFMDRS), and health-related quality of life was assessed by the Short Form General Health Survey (SF-36) scale. The amount of energy delivered was calculated, and adverse events and side effects were collected. RESULTS: At last follow-up, BFMDRS motor score improved on average by 49.5%, and the disability score improved by 30%. Health-related quality of life improved in most patients. Age at implant, age at onset and disease duration did not correlate to outcome, whilst higher pre-operative dystonia severity and occurrence of spasticity were associated with poorer outcome. The patients received a stable amount of energy after the first 2 years post-implant and throughout all the observation period. There were few serious adverse events or side effects. CONCLUSIONS: The outcome was encouraging in the majority of DCP patients, with a stable outlook and a good safety profile.


Assuntos
Paralisia Cerebral/complicações , Estimulação Encefálica Profunda/métodos , Distonia/terapia , Globo Pálido , Adolescente , Adulto , Distonia/etiologia , Feminino , Seguimentos , Globo Pálido/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
20.
Lasers Med Sci ; 30(2): 707-12, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23917414

RESUMO

Some lasers have demonstrated to provide effective disinfection when used as adjunctive device to the conventional treatment. The aim of this in vitro study was to determine the effectiveness of the erbium, chromium:yttrium scandium gallium garnet (Er, Cr:YSGG) laser by measuring its bactericidal effect inside the root canal experimentally colonized with Enterococcus faecalis. The laser was tested at different irradiation times (30 and 60 s) and energy of impulses (75 and 25 mJ). A total of 52 single-rooted extracted human teeth were endodontically prepared with rotary instrumentation. All were sterilized and inoculated with a suspension of E. faecalis (105 bacteria/ml). The teeth were randomized into three treatment (group 1, group 2, and group 3) and one control groups. In all groups, teeth were chemically irrigated with 5.25% sodium hypochlorite and 17% ethylenediaminetetraacetic acid. Groups 1 and 2 were also irradiated at 30 and 60 s, respectively, with an Er, Cr:YSGG laser at 75 mJ. Teeth of group 3 were treated with laser for 60 s at 25 mJ. Samples were processed to detect the presence of E. faecalis. For all groups, a bactericidal effect was observed. The use of laser at 75 mJ with an irradiation time of 30 and 60 s eliminated a percentage of 92.3 and 100% of E. faecalis, respectively. In the control group, a reduction of 92.3% was observed. Lower percentage of reduction (46.1%) was obtained in teeth treated with laser at 25 mJ for 60 s. No statistical differences were observed between the groups (P = 0.543, Fisher's exact test). The results indicated a bactericidal effect of Er, Cr:YSGG laser irradiation at the settings used in this study. The highest bactericidal effect of this laser was observed at 60 s of irradiation time, using an energy pulse of 75 mJ.


Assuntos
Cavidade Pulpar/cirurgia , Desinfetantes/química , Enterococcus faecalis , Infecções por Bactérias Gram-Positivas/cirurgia , Lasers de Estado Sólido/uso terapêutico , Cárie Dentária/cirurgia , Desinfecção/métodos , Érbio , Humanos , Lasers , Modelos Dentários , Doenças Periodontais/cirurgia , Tratamento do Canal Radicular/métodos , Hipoclorito de Sódio/química , Raiz Dentária/cirurgia
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