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OBJECTIVE: Post-COVID-19 is a syndrome defined by signs and symptoms present until 12 weeks after COVID-19, lasting for more than 8 weeks, not explained by an alternative diagnosis. The present study aimed to assess whether the cardiovascular risk (CVR) of patients with COVID-19 correlates with symptoms and changes in respiratory function parameters in post-COVID-19. The association between CVR and the severity of acute disease was also considered. PATIENTS AND METHODS: Between 21/04/21-01/09/21, we enrolled 1,782 consecutive patients with COVID-19. We divided these subjects into (i) 4 levels, based on the severity of COVID-19 (home care; hospitalized/no oxygen therapy; hospitalized/oxygen therapy; hospitalized/NIV-ICU), (ii) 2 levels, according to CVR calculated with the European Society of Cardiology SCORE tables (low-intermediate risk; high or very high risk). All subjects underwent a 3-month follow-up considering post-COVID-19 symptoms. RESULTS: In post-COVID-19 patients, high or very-high CVR was associated with (i) increased risk of hospitalization for COVID-19 (p<0.0001), (ii) higher prevalence of severe clinical manifestations and ICU admission (p<0.0001), (iii) development of post-COVID-19 (p<0.0001) and (iv) increased risk of a larger post-COVID-19 burden of disease. CONCLUSIONS: We found a statistically significant association between CVR, severity of COVID-19, and post-COVID-19 syndrome three months after the end of acute disease.
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COVID-19 , Doenças Cardiovasculares , Humanos , Síndrome de COVID-19 Pós-Aguda , SARS-CoV-2 , Doença Aguda , Doenças Cardiovasculares/epidemiologia , Fatores de Risco , Fatores de Risco de Doenças CardíacasRESUMO
Since the 11th of March 2020 when the World Health Organization declared the novel COVID-19 outbreak a global pandemic, it registered officially over 5 million deaths worldwide. According to the course of the pandemic, governments encouraged best practices and then ruled out temporary restrictions on daily lives. In this scenario, non-essential labor-intensive sectors were forced to put on hold operations producing massive temporary layoffs. In gradually restoring the economic activities, governments passed several laws to passively mitigate the pathogen transmission in indoor working environments. However, several COVID19-related injuries were filled by manufacturing companies. According to the outlined conditions, this paper proposes an original and advanced hardware and software architecture to prevent the COVID19 transmission in indoor production environments. The aim is to increase the safety of whichever indoor productive workplace through a contact tracing approach. Indoor positioning systems due to their ability to accurately track the movement of tagged entities compose the hardware part. For this purpose, human operatives are equipped with adequate wearable sensors. Raw data acquired are properly mined through advanced algorithms to quantitatively assess the degree of safety of any working setting. Indeed, having as a reference the epidemiological evidence the software part defines an innovative risk index along two correlated dimensions. While the first defines the risk of any worker getting infected during the shift, the other one expresses the degree of COVID19-safety of the shop floor defined by the displacements of the anchors. Benefitting from these targeted and quantitative hints, plant supervisors may redesign the production settings to lower the chances of COVID19 infection. This innovative digital framework is validated in a real case study in the North of Italy which performs manual mechanical processing for the automotive industry.
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OBJECTIVE: The role of inflammatory markers as neutrophil-to-lymphocyte ratio (NLR), monocyte-to-high-density lipoprotein-cholesterol ratio (MHR), and platelet-to-lymphocyte ratio (PLR) in cardiovascular diseases has been widely investigated in recent years. In the context of lower extremity arterial disease (LEAD), this association has been mainly studied in the advanced stages. The aim of our study was to investigate the role of these inflammatory markers in all stages of LEAD, including early ones, using ultrasonography as diagnostic tool, together with ankle-brachial index (ABI) determination. PATIENTS AND METHODS: In this cross-sectional observational study, we enrolled 240 patients undergoing ultrasonographic evaluation of the lower limb arteries and ABI determination because of symptoms suggestive of LEAD or presence of known cardiovascular risk factors. RESULTS: In our study population, we found that ultrasonographic categories of LEAD were associated with NLR, but not with MHR and PLR. CONCLUSIONS: These results confirm that a specific pattern of inflammation can be found in all stages of LEAD, including early ones.
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Extremidade Inferior/diagnóstico por imagem , Doença Arterial Periférica/diagnóstico por imagem , Ultrassonografia , Idoso , Índice Tornozelo-Braço , Estudos Transversais , Feminino , Humanos , Contagem de Linfócitos , MasculinoRESUMO
BACKGROUND: Arterial hyperflow to haemorrhoids has been implicated as a possible pathophysiological co-factor in haemorrhoidal disease. The purpose of this study was to investigate how transanal haemorrhoidal dearterialization (THD) can influence haemodynamic parameters at the level of the haemorrhoidal piles. METHODS: Patients with grade III haemorrhoids selected for THD between July and December 2018 were evaluated using endoanal ultrasonography and colour Doppler imaging at the level of internal haemorrhoids before and 1 year after the surgical procedure. Peak systolic velocity, pulsatility index, resistivity index, acceleration time, and end-diastolic velocity were measured, and preoperative and postoperative values compared. Symptom severity was measured using a symptom-based questionnaire (score range 0-20). RESULTS: Of 21 patients treated, 17 completed the study. Compared with preoperative values, postoperative peak systolic velocity (mean(s.d.) 18.7(1.1) versus 10.3(0.4) cm/s; P < 0.05), pulsatility index (5.5(0.3) versus 2.8(0.4); P < 0.050), and resistivity index (1.0(0.2) versus 0.8(0.5); P < 0.050) decreased significantly, whereas acceleration time increased significantly (65.6(3.6) versus 83.3(4.7) cm/s2; P < 0.050); end-diastolic velocity did not change (1.9(0.2) versus 2.0(0.4); P = 0.753). Symptoms disappeared or had improved significantly in all patients by 1 year after surgery. The mean(s.d.) total symptom severity score decreased from 15.8(1.1) to 1.2(1.6) (P < 0.001). CONCLUSION: THD affects the main haemodynamic parameters at the level of internal haemorrhoids and is associated with a decrease in arterial hyperflow.
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Canal Anal/irrigação sanguínea , Canal Anal/cirurgia , Hemorroidas/cirurgia , Reto/irrigação sanguínea , Reto/cirurgia , Adulto , Canal Anal/diagnóstico por imagem , Feminino , Hemodinâmica , Hemorroidectomia , Hemorroidas/diagnóstico por imagem , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Reto/diagnóstico por imagem , Resultado do Tratamento , Ultrassonografia DopplerRESUMO
Anderson-Fabry disease (FD) is a rare genetic, progressive, and multi-systemic condition, with X-linked inheritance. This is caused by pathogenic variants in the GLA gene, coding for the lysosomal enzyme called alpha-galactosidase A (aGLA), responsible for the cleavage of globotriaosylceramide (Gb3). The reduced or absent activity of aGLA causes the intracellular accumulation of Gb3, particularly in smooth and endothelial muscle cells, which causes cellular dysfunction. The main organs involved are the central nervous system, heart, and kidneys. However, being a ubiquitous enzyme, FD disease must be considered a systemic disease involving the peripheral nervous system, ocular and audio-vestibular systems. Also, the vascular district is damaged but the pathophysiology of vasculopathy in FD is not yet entirely understood. In literature, many vascular diagnostic tests were used to evaluate this specific involvement in FD, i.e., carotid intima media thickness (cIMT), arterial stiffness (AS), flow-mediated dilation (FMD) and atherosclerotic plaques; evaluation of vascular calcifications in FD patients is not presently available. In this review, we examined the current available literature on vascular aspects in FD. Moreover, we presented our global vascular evaluation, based on Radio Frequency Duplex Ultrasound (RF-DU), plaques, and vascular calcifications, to apply to FD patients.
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Artérias/patologia , Doença de Fabry/diagnóstico , Artérias/metabolismo , Doença de Fabry/metabolismo , Humanos , alfa-Galactosidase/genética , alfa-Galactosidase/metabolismoRESUMO
AIM: Small fibre neuropathy (SFN) diagnosis represents a challenge for neurologists. The diagnostic gold standard is intraepidermal nerve fibre (IENF) density, but in about 10-20% of patients with symptoms/signs and abnormalities on functional tests, it remains within normal range. We propose an adjunctive parameter to improve the efficiency of skin biopsy diagnosis. METHODS: We recruited 31 patients with SFN symptoms/signs, normal nerve conduction study, abnormal quantitative sensory testing and normal IENF density. We also included 31 healthy controls and 31 SFN patients with reduced IENF density as control groups. RESULTS: We measured the distance between consecutive IENFs in the three groups. Mean inter-fibre distances did not differ between patients with normal counts and healthy controls (66.7 ± 14.5 µm vs. 76.7 ± 13.4 µm; P = 0.052), while the relative standard deviation was significantly (P < 0.001) higher in patients (79.3 ± 29.9) compared to controls (51.6 ± 12.2). Using ROC analysis, we identified an inter-fibre distance of 350 µm as the measure that better differentiated patients from controls (AUC = 0.85, sensitivity: 74%, specificity: 94%). At least one such segment was also observed in all patients with reduced IENF count. CONCLUSION: Irregular spatial distribution is an SFN intrinsic feature preceding actual nerve loss. The presence of a stretch of denervated epidermis longer than 350 µm is a parameter able to increase the diagnostic efficiency of skin biopsy.
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Pele/inervação , Pele/patologia , Neuropatia de Pequenas Fibras/diagnóstico , Adulto , Idoso , Biópsia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologiaRESUMO
BACKGROUND AND PURPOSE: The aim was to identify the clinical and diagnostic investigations that may help to support a diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients not fulfilling the European Federation of Neurological Societies and Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria. METHODS: The data from patients with a clinical diagnosis of CIDP included in a national database were retrospectively reviewed. RESULTS: In all, 535 patients with a diagnosis of CIDP were included. This diagnosis fulfilled the EFNS/PNS criteria in 468 patients (87.2%) (definite in 430, probable in 33, possible in three, while two had chronic immune sensory polyradiculopathy). Sixty-seven patients had a medical history and clinical signs compatible with CIDP but electrodiagnostic studies did not fulfill the EFNS/PNS criteria for CIDP. These patients had similar clinical features and frequency of abnormal supportive criteria for the diagnosis of CIDP compared to patients fulfilling EFNS/PNS criteria. Two or more abnormal supportive criteria were present in 40 (61.2%) patients rising to 54 (80.6%) if a history of a relapsing course as a possible supportive criterion was also included. Increased cerebrospinal fluid proteins and response to immune therapy most frequently helped in supporting the diagnosis of CIDP. Response to therapy was similarly frequent in patients fulfilling or not EFNS/PNS criteria (87.3% vs. 85.9%). CONCLUSIONS: Patients with a clinical diagnosis of CIDP had similar clinical findings, frequency of abnormal supportive criteria and response to therapy compared to patients fulfilling EFNS/PNS criteria. The presence of abnormal supportive criteria may help in supporting the diagnosis of CIDP in patients with a medical history and clinical signs compatible with this diagnosis but non-diagnostic nerve conduction studies.
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Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Bases de Dados Factuais , Humanos , Condução Nervosa , Nervos Periféricos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Estudos RetrospectivosAssuntos
COVID-19/sangue , Ferritinas/sangue , Síndrome do Desconforto Respiratório/sangue , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , COVID-19/epidemiologia , Feminino , Humanos , Modelos Logísticos , Contagem de Linfócitos , Masculino , Pessoa de Meia-Idade , Neutrófilos , Síndrome do Desconforto Respiratório/epidemiologia , Síndrome do Desconforto Respiratório/virologia , Fatores de Risco , SARS-CoV-2 , Índice de Gravidade de DoençaRESUMO
Objective: The aim of the study was to investigate endothelial function in treatment-naïve polymyalgia rheumatica (PMR) patients and its modification during steroid therapy, in relation to changes in clinical and laboratory parameters.Method: This prospective observational study involved patients with a new diagnosis of PMR according to provisional American College of Rheumatology/European League Against Rheumatism 2012 criteria, who were naïve to steroid therapy, and control subjects matched for age, gender, and comorbidities. All participants underwent clinical and vascular ultrasound evaluations at baseline and after 1, 3, 6, and 12 months of steroid therapy. For the study of endothelial function, we evaluated the brachial artery reactivity, which has emerged as the most well-established technique used in adults, by assessing flow-mediated dilatation (FMD), which measures the endothelium-dependent vasodilatation.Results: Sixteen newly diagnosed PMR patients were compared with a population of 16 matched controls. FMD values in all subjects showed an inverse correlation with the values of erythrocyte sedimentation rate and C-reactive protein. At baseline, the FMD of PMR patients was significantly lower than controls and remained significantly lower with respect to controls until the sixth month of therapy, despite a clinical improvement already being evident after 1 month of therapy.Conclusions: PMR is characterized by an important chronic subclinical inflammatory component. This pilot study demonstrates that affected patients show endothelial dysfunction that slowly responds to steroid therapy. Further studies are needed to investigate the clinical relevance of these observations and, in particular, to monitor the cardiovascular risk profile of PMR patients.
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Aterosclerose/etiologia , Artéria Braquial/fisiopatologia , Endotélio Vascular/fisiopatologia , Polimialgia Reumática/complicações , Vasodilatação/fisiologia , Idoso , Aterosclerose/diagnóstico , Aterosclerose/fisiopatologia , Artéria Braquial/diagnóstico por imagem , Endotélio Vascular/diagnóstico por imagem , Feminino , Seguimentos , Glucocorticoides/uso terapêutico , Humanos , Masculino , Projetos Piloto , Polimialgia Reumática/tratamento farmacológico , Polimialgia Reumática/fisiopatologia , Estudos Prospectivos , Ultrassonografia Doppler em CoresRESUMO
BACKGROUND AND PURPOSE: The role of lifestyle and dietary habits and antecedent events has not been clearly identified in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Information was collected about modifiable environmental factors and antecedent infections and vaccinations in patients with CIDP included in an Italian CIDP Database. Only patients who reported not having changed their diet or the lifestyle habits investigated in the study after the appearance of CIDP were included. The partners of patients with CIDP were chosen as controls. Gender-matched analysis was performed with randomly selected controls with a 1:1 ratio of patients and controls. RESULTS: Dietary and lifestyle data of 323 patients and 266 controls were available. A total of 195 cases and 195 sex-matched controls were used in the analysis. Patients eating rice at least three times per week or eating fish at least once per week appeared to be at decreased risk of acquiring CIDP. Data on antecedent events were collected in 411 patients. Antecedent events within 1-42 days before CIDP onset were reported by 15.5% of the patients, including infections in 12% and vaccinations in 1.5%. Patients with CIDP and antecedent infections more often had an acute onset of CIDP and cranial nerve involvement than those without these antecedent events. CONCLUSIONS: The results of this preliminary study seem to indicate that some dietary habits may influence the risk of CIDP and that antecedent infections may have an impact on the onset and clinical presentation of the disease.
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Comportamento Alimentar , Estilo de Vida , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/epidemiologia , Adulto , Criança , Bases de Dados Factuais , Feminino , Humanos , Infecções/complicações , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
BACKGROUND: Neuroblastoma (NB) is a paediatric tumour of the sympathetic nervous system. Half of all cases are defined high-risk with an overall survival less than 40% at 5 years from diagnosis. The lack of in vitro models able to recapitulate the intrinsic heterogeneity of primary NB tumours has hindered progress in understanding disease pathogenesis and therapy response. METHODS: Here we describe the establishment of 6 patient-derived organoids (PDOs) from cells of NB tumour biopsies capable of self-organising in a structure resembling the tissue of origin. RESULTS: PDOs recapitulate the histological architecture typical of the NB tumour. Moreover, PDOs expressed NB specific markers such as neural cell adhesion molecules, NB84 antigen, synaptophysin (SYP), chromogranin A (CHGA) and neural cell adhesion molecule NCAM (CD56). Analyses of whole genome genotyping array revealed that PDOs maintained patient-specific chromosomal aberrations such as MYCN amplification, deletion of 1p and gain of chromosome 17q. Furthermore, the PDOs showed stemness features and retained cellular heterogeneity reflecting the high heterogeneity of NB tumours. CONCLUSIONS: We were able to create a novel preclinical model for NB exhibiting self-renewal property and allowing to obtain a reservoir of NB patients' biological material useful for the study of NB molecular pathogenesis and to test drugs for personalised treatments.
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Doenças do Sistema Nervoso Autônomo/genética , Doenças do Sistema Nervoso Autônomo/patologia , Modelos Biológicos , Neuroblastoma/genética , Neuroblastoma/patologia , Organoides/patologia , Doenças do Sistema Nervoso Autônomo/metabolismo , Biomarcadores Tumorais/metabolismo , Biópsia , Criança , Pré-Escolar , Cromogranina A/metabolismo , Aberrações Cromossômicas , Amplificação de Genes/genética , Humanos , Lactente , Proteína Proto-Oncogênica N-Myc/genética , Neuroblastoma/metabolismo , Organoides/metabolismo , Receptores Acoplados a Proteínas G/metabolismo , Sinaptofisina/metabolismoAssuntos
Hipo-Hidrose/etiologia , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/fisiopatologia , Glândulas Salivares/patologia , Azatioprina/uso terapêutico , Feminino , Humanos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Metilprednisolona/uso terapêutico , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: Most studies on atherosclerotic processes include peripheral arterial disease diagnosis only if patients report symptoms suggestive of peripheral arterial disease and/or an instrumental demonstration of lower limbs perfusion deficit is provided, rather than the sole presence of atherosclerotic lesions localized at lower limbs, this attitude leading to ignore early stages of the disease. To overcome these limitations, we have proposed a new ultrasonographic semiquantitative score to better identify all disease stages. The aim of this study is to compare ultrasonography versus ankle-brachial index in the association between peripheral arterial disease and cardiovascular risk factors. PATIENTS AND METHODS: This cross-sectional observational study included subjects undergoing lower limbs evaluation through ultrasonography and ankle-brachial index determination because of symptoms suggestive of peripheral arterial disease or presence of known cardiovascular risk factors. Associations between ultrasonography and ankle-brachial index with cardiovascular risk factors were assessed by first fitting logistic regression models and then comparing the respective areas under the Receiver Operating Characteristic and 95% confidence intervals. RESULTS: The areas under the Receiver Operating Characteristic for each cardiovascular risk factors were consistently larger in magnitude for ultrasonography compared with ankle-brachial index, this comparison being statistically significant for age, male gender, smoking status, hypertension, diabetes mellitus and previous cardiovascular events. CONCLUSIONS: Our study demonstrates that ultrasonography is a better method to screen peripheral arterial disease respect to ankle-brachial index in order to identify all disease stages. These findings are useful in particular when including peripheral arterial disease as organ damage marker in cardiovascular risk stratification.
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Índice Tornozelo-Braço , Doenças Cardiovasculares/diagnóstico , Doença Arterial Periférica/diagnóstico , Ultrassonografia , Adulto , Idoso , Doenças Cardiovasculares/complicações , Sistema Cardiovascular , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença Arterial Periférica/complicações , Fatores de RiscoRESUMO
Casertana is an endangered autochthonous pig breed (raised in south-central Italy) that is considered to be the descendant of the influential Neapolitan pig population that was used to improve British breeds in the 19th century. Casertana pigs are characterized by a typical, almost complete, hairless phenotype, even though a few Casertana pigs are normal haired. In this work, using Illumina PorcineSNP60 BeadChip data, we carried out a genome-wide association study and an FST analysis with this breed by comparing animals showing the classical hairless phenotype (n = 81) versus pigs classified as haired (n = 15). Combining the results obtained with the two approaches, we identified two significant regions: one on porcine chromosome (SSC) 7 and one on SSC15. The SSC7 region contains the forkhead box N3 (FOXN3) gene, the most plausible candidate gene of this region, considering that mutations in another gene of the same family (forkhead box N1; Foxn1 or FOXN1) are responsible for the nude locus in rodents and alopecia in humans. Another potential candidate gene, rho guanine nucleotide exchange factor 10 (ARHGEF10), is located in the SSC15 region. FOXN3 and ARHGEF10 have been detected as differentially expressed in androgenetic and senescent alopecia respectively. This study on an autochthonous pig breed contributes to shed some light on novel genes potentially involved in hair development and growth and demonstrates that local animal breeds can be valuable genetic resources for disclosing genetic factors affecting unique traits, taking advantage of phenotype variability segregating in small populations.
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Cruzamento , Fenótipo , Sus scrofa/genética , Animais , Feminino , Fatores de Transcrição Forkhead/genética , Estudos de Associação Genética/veterinária , Cabelo , Itália , Masculino , Polimorfismo de Nucleotídeo Único , Fatores de Troca de Nucleotídeo Guanina Rho/genéticaRESUMO
BACKGROUND AND PURPOSE: We aimed to test the clinical utility of the leg:thigh intraepidermal nerve-fiber (IENF) density ratio as a parameter to discriminate between length-dependent small-fiber neuropathy (SFN) and small-fiber sensory ganglionopathy (SFSG) in subjects with signs and symptoms of small-fiber pathology. METHODS: We retrospectively evaluated thigh and leg IENF density in 314 subjects with small-fiber pathology (173 with distal symmetrical length-dependent SFN and 141 with non-length-dependent SFSG). A group of 288 healthy subjects was included as a control group. The leg:thigh IENF density ratio was calculated for all subjects. We used receiver operating characteristic curve analyses to assess the ability of this parameter to discriminate between length-dependent SFN and SFSG, and the decision curve analysis to estimate its net clinical benefit. RESULTS: In patients with neuropathy, the mean IENF density was 14.8 ± 6.8/mm at the thigh (14.0 ± 6.9/mm in length-dependent SFN and 15.9 ± 6.7/mm in patients with SFSG) and 7.5 ± 4.5/mm at the distal leg (5.4 ± 3.2/mm in patients with length-dependent SFN and 10.1 ± 4.6/mm in patients with SFSG). The leg:thigh IENF density ratio was significantly (P < 0.01) lower in patients with length-dependent SFN (0.44 ± 0.23) compared with patients with SFSG (0.68 ± 0.28). The area under the curve of the receiver operating characteristic analysis to discriminate between patients with length-dependent SFN and SFSG was 0.79. The decision curve analysis demonstrated the clinical utility of this parameter. CONCLUSIONS: The leg:thigh IENF ratio represents a valuable tool in the differential diagnosis between SFSG and length-dependent SFN.
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Fibras Nervosas/patologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Pele/patologia , Neuropatia de Pequenas Fibras/diagnóstico , Adulto , Idoso , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/patologia , Estudos Retrospectivos , Neuropatia de Pequenas Fibras/patologiaRESUMO
BACKGROUND AND PURPOSE: The aim of our study was to describe, by a case-control and cross-sectional design, the correlation between clinical impairment and age in Charcot-Marie-Tooth type 1A (CMT1A) patients. METHODS: Seventy CMT1A patients and 70 sex- and age-matched healthy controls were enrolled. Motor performance was assessed through the 10-m walk test, the 6-min walk test and the 9-hole peg test of the dominant and non-dominant side, and muscle strength was measured by using the Medical Research Council score. In the CMT1A group, disability and quality of life were evaluated using the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and the Short Form 36 (SF-36) questionnaire. Cross-sectional relationships between age and all clinical measures were analyzed and differences in the slopes between cases and controls were calculated. The occurrence of a structural change in the age-related progression of clinical measures was explored. RESULTS: The deterioration of motor performance correlated with age in both groups with a greater slope in CMT1A patients than controls. The deterioration of CMTNS and SF-36 correlated with age in the CMT1A group. The deterioration of all clinical measures with the exception of the SF-36 questionnaire showed a structural change at the 50th year of age. The rate of deterioration was no different between patients and controls until 50 years of age, whereupon it became significantly greater in CMT1A patients. CONCLUSION: Our study supports that the disease progression in CMT1A patients is an age-related process and the 50th year of age represents a critical moment after which the clinical decline becomes faster.
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Doença de Charcot-Marie-Tooth/fisiopatologia , Progressão da Doença , Atividade Motora/fisiologia , Força Muscular/fisiologia , Desempenho Psicomotor/fisiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: The aim of this review is to explore the evidence about the association among celiac disease (CD), atherosclerosis (AS) and cardiovascular (CV) diseases, and the role of inflammation in this connection. MATERIALS AND METHODS: A systematic literature search was conducted using PubMed, EMBASE, and Cochrane Library for the association among CD, AS and CV diseases. RESULTS: Several studies reported the association of CD with accelerated AS, as evidenced by the alterations of a number of parameters indicative of subclinical AS, as increased carotid artery intima-media thickness, endothelial dysfunction and increased arterial stiffness. In addition, recent evidence reported an increase of CV diseases prevalence in CD patients respect to controls, many of which including ischemic diseases as acute myocardial infarction and angina pectoris, as well as death from ischemic heart disease, and, more rarely, stroke for cerebrovascular involvement. Other not-ischemic CV diseases associated with CD are represented by dilated cardiomyopathy, atrial fibrillation, and myocarditis. CONCLUSIONS: On the basis of the reported association among CD, AS and CV diseases, we suggest to perform a more detailed CV risk assessment in all CD patients than what is currently being achieved in clinical practice, in order to scan and treat modifiable CV risk factors in these patients. In particular, we suggest to resort to instrumental techniques to detect AS in the subclinical stage, in order to prevent AS development and CV diseases in CD patients.
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Aterosclerose/etiologia , Autoimunidade , Doenças Cardiovasculares/etiologia , Doença Celíaca/complicações , Inflamação/complicações , Humanos , Fatores de RiscoRESUMO
This study evaluates the prevalence of sarcopenia among older people admitted to a rehabilitation unit after hip fracture and the association between sarcopenia and functional outcomes. The results show that sarcopenia had a negative impact on functional recovery. The assessment of sarcopenia among older adults receiving rehabilitation programs is crucial. INTRODUCTION: Sarcopenia is a highly prevalent geriatric syndrome associated with adverse outcomes, including falls, disability, institutionalization, and mortality. Few studies assessed sarcopenia among older adults receiving rehabilitation programs. METHODS: Patients aged 70 years or more consecutively admitted to in-hospital rehabilitation programs that had suffered from hip fracture entered the study. Sarcopenia was defined according to the Foundation for National Institutes of Health (FNIH) criteria. Multivariable linear regression models were used to analyze the association between the sarcopenia and functional recovery. RESULTS: The recruited population was composed of 127 patients, with a mean age of 81.3 ± 4.8 years, predominantly females (64.6%). Using the criteria proposed by the FNIH, patients with a diagnosis of sarcopenia were 43 (33.9%). After adjustment for potential confounders, participants with sarcopenia had a significant increased risk of incomplete functional recovery compared with non-sarcopenic patients (OR 3.07, 95% CI 1.07-8.75). Compared with participants without sarcopenia, those with sarcopenia showed lower Barthel index scores at the time of discharge from the rehabilitation unit (69.2 versus 58.9, respectively; p < 0.001) and after 3 months of follow-up (90.9 versus 80.5, respectively; p = 0.02). CONCLUSIONS: These findings support the systematic assessment of sarcopenia among older adults receiving rehabilitation programs to assist in the development of personalized treatment plans aimed at improving functional outcomes.
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Fraturas do Quadril/complicações , Fraturas do Quadril/reabilitação , Sarcopenia/complicações , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Indicadores Básicos de Saúde , Fraturas do Quadril/fisiopatologia , Hospitalização , Humanos , Masculino , Recuperação de Função Fisiológica , Centros de Reabilitação , Sarcopenia/fisiopatologia , Resultado do TratamentoRESUMO
AIMS: To assess cutaneous sensory and autonomic nerves and the vascular bed in amyotrophic lateral sclerosis (ALS). METHODS: We enrolled 41 patients (M = 20, aged 63.5 ± 11.8 years), and 41 age- and gender-matched healthy volunteers (M = 20, aged 63.5 ± 11.8 years). Disease severity and sensory and autonomic symptoms were scored using dedicated rating scales. Skin biopsies obtained from thigh, leg and fingertip were processed using indirect immunofluorescence. Intraepidermal nerve fibres, Meissner corpuscles (MCs), intrapapillary myelinated endings, cholinergic and noradrenergic pilomotor nerves and dermal vessels were quantified on confocal images. Intraepidermal nerve fibres, pilomotor nerves and vessels were also assessed on distal leg skin samples of 10 spinal cord injury patients to compare our findings with those of a chronic hypomobility condition. RESULTS: Compared to healthy controls skin biopsies showed: (i) non-length-dependent loss of intraepidermal nerve fibres (P < 0.01) and loss of MCs (P < 0.01); (ii) reduced (P < 0.01) density of pilomotor nerves involving cholinergic and noradrenergic fibres and (iii) a reduced (P < 0.01) vascular bed. Autonomic nerve and dermal vessel densities were higher in patients with higher disease progression rate (P < 0.01). Moreover, we observed signs of nerve regeneration coexisting with nerve degeneration and increased complexity of the dermal vessels. In patients with posttraumatic spinal cord injury, the density of intraepidermal nerve fibres, pilomotor nerves and of the vascular bed did not differ from controls (P > 0.05). CONCLUSIONS: We demonstrated a cutaneous sensory and autonomic denervation in ALS and a previously undescribed relationship between autonomic and vascular involvement that appeared to be linked to the disease progression rate.
Assuntos
Esclerose Lateral Amiotrófica/patologia , Vias Autônomas/patologia , Vasos Sanguíneos/patologia , Células Receptoras Sensoriais/patologia , Adulto , Idoso , Biópsia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Degeneração Neural/patologia , Pele/patologiaRESUMO
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A. METHODS: Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot-Marie-Tooth Examination Score (CMTES). RESULTS: NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES. CONCLUSIONS: This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length-dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients.