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1.
Eur J Neurol ; 28(2): 691-706, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33043569

RESUMEN

Restless legs syndrome (RLS) is one of the most common neurological disorders. It describes an irresistible urge to move the legs, mostly manifested in the evening and at night, which can lead to severe sleep disturbance. As part of the European Brain Council (EBC)-led Value-of-Treatment project, this study aimed at capturing the socioeconomic impact of RLS related to the inadequate diagnosis and treatment across different European healthcare settings. The economic burden of RLS was estimated using the published EBC framework of analysis in three separate European Union healthcare systems (France, Germany, and Italy). The RLS care pathway was mapped to identify the unmet needs of patients. Based on specific patient stories, the economic impact of correctly diagnosing RLS and changing between inadequate and target treatment was calculated using appropriate scenario analysis. RLS proved to be a significant personal and social burden, when epidemiological data, high prevalence of RLS, and its need for treatment are combined. By looking at the savings emerging from the provision of optimal care management (timely and correct diagnosis, evidence-based therapy, avoidance of therapy-related complications such as augmentation), the authors foresee substantial economic savings with the achievement of adequate diagnosis and treatment of RLS. Education about RLS is urgently needed for all subspecialties involved in RLS patient care as well as the general public. Equally important, the search for new causal treatment strategies should be intensified to reduce suffering and substantial societal cost.


Asunto(s)
Síndrome de las Piernas Inquietas , Trastornos del Sueño-Vigilia , Francia/epidemiología , Alemania , Humanos , Síndrome de las Piernas Inquietas/diagnóstico , Síndrome de las Piernas Inquietas/epidemiología , Síndrome de las Piernas Inquietas/terapia , Factores Socioeconómicos
2.
Neurol Sci ; 40(3): 447-456, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30539345

RESUMEN

OBJECTIVE: Narcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the "Associazione Italiana Narcolettici e Ipersonni" is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians. MATERIALS AND METHODS: A multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened. The project was accomplished in three phases. Phase 1: Sleep experts shaped clinical pictures of narcolepsy in pediatric and adult patients. On the basis of these pictures, Red Flags were drafted. Phase 2: Representatives of the scientific societies and patients filled in a form to identify barriers to the diagnosis of narcolepsy. Phase 3: The panel produced suggestions for the implementation of Red Flags. RESULTS: Red Flags were produced representing three clinical pictures of narcolepsy in pediatric patients ((1) usual sleep symptoms, (2) unusual sleep symptoms, (3) endocrinological signs) and two in adult patients ((1) usual sleep symptoms, (2) unusual sleep symptoms). Inadequate knowledge of symptoms at onset by medical doctors turned out to be the main reported barrier to diagnosis. CONCLUSIONS: This report will hopefully enhance knowledge and awareness of narcolepsy among non-specialists in sleep medicine in order to reduce the diagnostic delay that burdens patients in Italy. Similar initiatives could be promoted across Europe.


Asunto(s)
Comunicación Interdisciplinaria , Narcolepsia/diagnóstico , Narcolepsia/epidemiología , Derivación y Consulta/normas , Adulto , Factores de Edad , Niño , Diagnóstico Tardío/estadística & datos numéricos , Diagnóstico Diferencial , Humanos , Italia , Narcolepsia/fisiopatología , Médicos
3.
J Intellect Disabil Res ; 62(7): 593-603, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29682828

RESUMEN

BACKGROUND: Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1. METHOD: The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indices, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened. RESULTS: Based on results using traditional transformation of raw scores into weighted scores, a very high percentage of subtests with weighted score of 1 occurred in the Down syndrome sample, with a floor effect and without any statistically significant difference between four core Wechsler Intelligence Scale for Children-Fourth Edition indices. The results, using traditional transformation, confirm a deep cognitive impairment of those with Down syndrome. Conversely, using the new statistical method, it is immediately apparent that the variability of the scores, both on subtests and indices, is wider with respect to the traditional method. CONCLUSION: Children with Down syndrome show a greater ability in the Verbal Comprehension Index than in the Working Memory Index.


Asunto(s)
Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/diagnóstico , Síndrome de Down/complicaciones , Escalas de Wechsler/estadística & datos numéricos , Adolescente , Niño , Trastornos del Conocimiento/psicología , Síndrome de Down/psicología , Femenino , Humanos , Italia , Masculino , Psicometría , Reproducibilidad de los Resultados
4.
Eur J Neurol ; 24(2): 334-340, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27905666

RESUMEN

BACKGROUND AND PURPOSE: The sleep-onset rapid eye movement (REM) period (SOREMP), the hallmark of narcolepsy, may be a specific state and not the simple anticipation of REM sleep. METHODS: We analyzed the electroencephalographic spectral content in untreated patients with narcolepsy type 1 (NT1) during the sleep-onset period (SOP) and during nocturnal REM sleep in two consecutive nocturnal recordings from 31 patients with NT1 (mean age 34 ± 15 years, 18 males) and a single nocturnal recording from 36 controls (mean age 38 ± 13 years, 21 males). The SOP was defined as the first 10 min starting at the beginning of the first epoch of any sleep stage, and further divided into two consecutive 5-min periods (SOP-1 and SOP-2); 1 min of artifact-free quiet wakefulness after lights-off was identified as well as 5 min of REM sleep in the middle of the night and another 5 min during the last REM sleep period. Electroencephalographic spectral analysis was performed using the C3/A2 channel. RESULTS: The SOP-1 and, more strikingly, SOP-2 had significantly less delta and sigma activity in patients with NT1 in the SOREMP condition versus both controls and patients with NT1 without SOREMP. SOP-2 also showed less theta and alpha activity. Conversely, sigma and beta activity were more represented during SOREMP compared with the nocturnal REM period in patients with NT1. CONCLUSIONS: The analysis of the SOP supports the concept that SOREMP is a different state compared with both nocturnal REM sleep and non-REM sleep onset.


Asunto(s)
Electroencefalografía , Narcolepsia/fisiopatología , Sueño REM , Adulto , Artefactos , Ritmo Delta , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polisomnografía , Fases del Sueño , Vigilia , Adulto Joven
5.
Acta Neurol Scand ; 135(2): 219-224, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27027974

RESUMEN

OBJECTIVE: To assess sleep characteristics and the occurrence of abnormal muscle activity during sleep, such as REM sleep without atonia (RSWA), REM sleep behavior disorder (RBD), and periodic leg movements during sleep (PLMS), in patients with amyotrophic lateral sclerosis (ALS). METHODS: A total of 41 patients with ALS and 26 healthy subjects were submitted to clinical interview and overnight video-polysomnography. RESULTS: A total of 22 patients with ALS (53.6%) reported poor sleep quality. Polysomnographic studies showed that patients with ALS had reduced total sleep time, increased wakefulness after sleep onset, shortened REM and slow-wave sleep, and decreased sleep efficiency, compared to controls. Polysomnographic abnormalities were not different in patients reporting good or poor sleep and were not correlated to clinical and demographic variables. The PLMS index was significantly higher in patients with ALS than in healthy subjects, and 22 patients (53.6%) showed a PLMS index > 15/h, vs 4 (15.4%) controls (P < 0.001). Finally, two patients with ALS (4.9%) had RBD, and two more patients presented RSWA (4.9%), whereas no controls showed abnormalities of REM sleep. CONCLUSION: Patients with ALS frequently present abnormalities of sleep that can be documented both at the clinical interview and at the polysomnographic evaluation, including insomnia, fragmented sleep, and increased PLMS. Moreover, abnormalities of REM sleep can be found in some of these patients.


Asunto(s)
Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/epidemiología , Síndrome de Mioclonía Nocturna/diagnóstico , Síndrome de Mioclonía Nocturna/epidemiología , Trastorno de la Conducta del Sueño REM/diagnóstico , Trastorno de la Conducta del Sueño REM/epidemiología , Fases del Sueño/fisiología , Anciano , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Polisomnografía/métodos
6.
Eur J Neurol ; 22(10): 1337-54, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26255640

RESUMEN

In recent years, evidence has emerged for a bidirectional relationship between sleep and neurological and psychiatric disorders. First, sleep-wake disorders (SWDs) are very common and may be the first/main manifestation of underlying neurological and psychiatric disorders. Secondly, SWDs may represent an independent risk factor for neuropsychiatric morbidities. Thirdly, sleep-wake function (SWF) may influence the course and outcome of neurological and psychiatric disorders. This review summarizes the most important research and clinical findings in the fields of neuropsychiatric sleep and circadian research and medicine, and discusses the promise they bear for the next decade. The findings herein summarize discussions conducted in a workshop with 26 European experts in these fields, and formulate specific future priorities for clinical practice and translational research. More generally, the conclusion emerging from this workshop is the recognition of a tremendous opportunity offered by our knowledge of SWF and SWDs that has unfortunately not yet entered as an important key factor in clinical practice, particularly in Europe. Strengthening pre-graduate and postgraduate teaching, creating academic multidisciplinary sleep-wake centres and simplifying diagnostic approaches of SWDs coupled with targeted treatment strategies yield enormous clinical benefits for these diseases.


Asunto(s)
Investigación Biomédica/tendencias , Neurología/tendencias , Psiquiatría/tendencias , Trastornos del Sueño-Vigilia/fisiopatología , Sueño/fisiología , Humanos
7.
Mol Psychiatry ; 18(4): 461-70, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22430674

RESUMEN

Recently, several genome-wide association studies (GWASs) have led to the discovery of nine new loci of genetic susceptibility in Alzheimer's disease (AD). However, the landscape of the AD genetic susceptibility is far away to be complete and in addition to single-SNP (single-nucleotide polymorphism) analyses as performed in conventional GWAS, complementary strategies need to be applied to overcome limitations inherent to this type of approaches. We performed a genome-wide haplotype association (GWHA) study in the EADI1 study (n=2025 AD cases and 5328 controls) by applying a sliding-windows approach. After exclusion of loci already known to be involved in AD (APOE, BIN1 and CR1), 91 regions with suggestive haplotype effects were identified. In a second step, we attempted to replicate the best suggestive haplotype associations in the GERAD1 consortium (2820 AD cases and 6356 controls) and observed that 9 of them showed nominal association. In a third step, we tested relevant haplotype associations in a combined analysis of five additional case-control studies (5093 AD cases and 4061 controls). We consistently replicated the association of a haplotype within FRMD4A on Chr.10p13 in all the data set analyzed (OR: 1.68; 95% CI: (1.43-1.96); P=1.1 × 10(-10)). We finally searched for association between SNPs within the FRMD4A locus and Aß plasma concentrations in three independent non-demented populations (n=2579). We reported that polymorphisms were associated with plasma Aß42/Aß40 ratio (best signal, P=5.4 × 10(-7)). In conclusion, combining both GWHA study and a conservative three-stage replication approach, we characterised FRMD4A as a new genetic risk factor of AD.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Enfermedad de Alzheimer/genética , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Haplotipos/genética , Enfermedad de Alzheimer/sangre , Péptidos beta-Amiloides/sangre , Estudios de Casos y Controles , Humanos , Polimorfismo de Nucleótido Simple/genética
8.
Neurol Sci ; 35(9): 1329-48, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25037740

RESUMEN

Clinical assessment and management of sleep disturbances in patients with mild cognitive impairment and dementia has important clinical and social implications. Poor sleep results in an increased risk of morbidities and mortality in demented patients and is a source of stress for caregivers. Sleep disturbances show high prevalence in mild cognitive impairment and dementia patients and they are often associated one to another in the same patient. A careful clinical evaluation of sleep disorders should be performed routinely in the clinical setting of individuals with cognitive decline. The Sleep Study Group of the Italian Dementia Research Association (SINDem) reviewed evidence from original research articles, meta-analyses and systematic reviews published up to December 2013. The evidence was classified in quality levels (I, II, III) and strength of recommendations (A, B, C, D, E). Where there was a lack of evidence, but clear consensus, good practice points were provided. These recommendations may not be appropriate for all circumstances and should therefore be adopted only after a patient's individual characteristics have been carefully evaluated.


Asunto(s)
Disfunción Cognitiva/complicaciones , Demencia/complicaciones , Evaluación de Resultado en la Atención de Salud/normas , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/terapia , Humanos , Italia , Evaluación de Resultado en la Atención de Salud/métodos
9.
Musculoskelet Surg ; 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38829480

RESUMEN

Intra-articular injection-based therapy is often used aside conservative treatment and lifestyle modifications to manage knee osteoarthritis (KO) patients. Conventional injections contain steroids and hyaluronic acid, while more recently multipotential adult stem cell, platelet-rich plasma (PRP), and platelet lysate (PL) injections have been used to promote cartilage regeneration or repair. The aim of the current study is to analyse current evidence on PL injections for the treatment of KO and to determine if these are effective and how these perform compared to other injection regimens. The databases of Scopus, Embase, PubMed, Web of Science, and Cochrane Library were searched on 30 June 2023. Risk of bias was assessed using the SYRCLE tool for animal studies and Cochrane RoB 2 as well as ROBINS-I tool for human studies. Studies were included if these were in English, any year, and regarded animals with osteoarthritis (OA) or human adult patients with OA. In vitro trials and non-adult human studies were excluded. Results on OA symptom stage and severity, and pain were recorded. The research retrieved three human studies (n = 48, n = 25, n = 58) and four animal studies: one rabbit, two studies, and one rat study. PL was found to decrease KO symptoms at follow-up ≤ 1 year with respect to baseline levels and when compared to hyaluronic acid or platelet-rich plasma. Symptoms returned 6 months-1 year after the final administration, with studies showing peak efficacy at approximately 6 months. Animal studies showed clinical improvements, reduction of lameness, and partial effect on the cartilage regeneration of the seven studies, two had a high risk of bias, four were associated to some concerns, and one had low risk. A major source of bias in these studies was the use of questionnaires and scoring that could be subject to interpretation. Overall, PL was well-tolerated and showed efficacy comparable to PRP; when pain control was assessed, it showed similar efficacy compared to hyaluronic acid. These findings may support its use in clinical trials to confirm these initial findings; future research should also focus on the comparison with other non-surgical treatments, on a more detail of the potential regenerative properties, and to optimise the treatment schedule.

10.
Musculoskelet Surg ; 107(2): 143-157, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36197592

RESUMEN

PURPOSE: Patella maltracking is among the most frequent causes of poor outcomes and early failure after total knee arthroplasty (TKA), with an incidence that ranges from 1 to 20%. Even if there is agreement between authors regarding the preoperative and intraoperative management of patella maltracking in TKA, less clear are postoperative conducts. The purpose of this systematic review is to summarize and compare surgical techniques used to treat patella maltracking after TKA. METHODS: A systematic review of the literature was performed with a primary search on Medline through PubMed. The PRISMA 2009 flowchart and checklist were used to edit the review. Screened studies had to provide clinical, functional and radiological results and complications of the proposed treatment to be included in the review. RESULTS: A total of 21 articles were finally included. Three main types of surgical procedures and other minor techniques have been identified to manage patella maltracking after TKA. The choice of the proper technique to use in the specific case depends on several factors, first of all the malpositioning of the prosthetic components. CONCLUSION: Patella maltracking after TKA represents a frequent and challenging problem for orthopedic surgeons. Treatments described in the literature are often able to correct an abnormal patellar tracking; nevertheless, authors report variable percentages of residual knee pain and dissatisfaction in re-treated patients. Therefore, it would be desirable to prevent the maltracking condition at the time of primary arthroplasty, using proper surgical precautions.


Asunto(s)
Artroplastia de Reemplazo de Rodilla , Humanos , Artroplastia de Reemplazo de Rodilla/métodos , Rótula/diagnóstico por imagen , Rótula/cirugía , Articulación de la Rodilla/cirugía , Radiografía
11.
Musculoskelet Surg ; 2023 May 26.
Artículo en Inglés | MEDLINE | ID: mdl-37237144

RESUMEN

PURPOSE: Total knee replacement (TKR) failure represents a hard challenge for knee surgeons. TKR failure can be managed in revision with different constraint, related with soft and bone knee damages. The choice of the right constraint for every failure cause represents a not summarized entity. The purpose of this study is identifying distribution of different constraints in revision TKR (rTKR) for failure cause and the overall survival. METHODS: A registry study based on the Emilia Romagna Register of the Orthopaedic Prosthetic Implants (called RIPO) was performed with a selection of 1432 implants, in the period between 2000 and 2019. Selection implants including primary surgery constraint, failure cause and constraint revision for every patient, and divided for constraint degrees used during procedures (Cruciate Retaining-CR, Posterior Stabilized-PS, Condylar Constrained Knee-CCK, Hinged). RESULTS: The most common cause of primary TKR failure was aseptic loosening (51,45%), followed by septic loosening (29,12%). Each type of failure was managed with different constraint, the most used was CCK in the most of failure causes, such as to manage aseptic and septic loosening in CR and PS failure. Overall survival of TKA revisions has been calculated at 5 and 10 years for each constraint, with a range of 75.1-90.0% at 5 years and 75.1-87.5% at 10 years. CONCLUSION: Constraint degree in rTKR is typically higher than primary, CCK is the most used constraint in revision surgery with an overall survival of 87.5% at 10 years.

12.
Musculoskelet Surg ; 2023 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-37338752

RESUMEN

PURPOSE: Pigmented Villonodular Synovitis (PVNS) is a proliferative disease arising from the synovial membrane, mainly affects large joints such as the knee (almost 80% of total). Prostheses implanted in PVNS osteoarthritis show a higher revision rate when compared to primary osteoarthritis, due to the recurrence of disease and the overall surgical complications. The purpose of this systematic review is to summarize and compare indications, clinical and functional outcomes, disease-related and surgical-related complications of total knee arthroplasty in PVNS osteoarthritis. MATERIALS AND METHODS: A systematic review of the literature was performed with a primary search on Medline through PubMed. The PRISMA 2009 flowchart and checklist were used to edit the review. Screened studies had to provide preoperative diagnosis, previous treatments, main treatment, concomitant strategies, mean follow-up, outcomes and complications to be included in the review. RESULTS: A total of 8 articles were finally included. Most of papers reported the use of non-constrained design implants, mainly posterior stabilized (PS) and in case of PVNS with extensive joint involvement implants with higher degree of constraint to obtain a fulfilling balancing. Recurrence of PVNS has been indicated as the major complication, followed by aseptic loosening of the implant and difficult post-operative course with an increased risk of stiffness. CONCLUSION: Total knee arthroplasty represents a valid treatment for patients with PVNS end-stage osteoarthritis, with good clinical and functional results, even in longer follow-up. It would be advisable a multidisciplinary management and a meticulous rehabilitation and monitoring following the procedure, to reduce the emergence of recurrence and overall complications.

13.
Musculoskelet Surg ; 107(4): 431-437, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37314642

RESUMEN

INTRODUCTION: Total hip arthroplasty (THA) is a successful surgery, but despite the advancements in anesthesiology and orthopedics, sometimes blood transfusions are required to manage the anemia due to the blood loss, involving a substantial number of patients. The aim of this retrospective comparative study is to define how the choice of the surgical approach, either direct anterior (DA) or posterolateral (PL), may influence the postoperative blood loss and the need for transfusion in THA. MATERIALS AND METHODS: Data collection was carried out retrospectively of THAs performed between 2016 and 2021 on primary hip osteoarthritis treated by DA or with PL approach. Clinical and perioperative anesthetic data were collected. Preoperative hemoglobin levels were compared with the lowest detected level by calculating ΔHb (hemoglobin decrease). Then, data from the two groups were cross-checked: duration of surgery, whether premedication with tranexamic acid, duration of the hospitalization, rate of need for hemotransfusions, and amount of blood transfused. The two samples were subdivided into subgroups according to age, BMI, tranexamic acid prophylaxis, and chronic treatment with drugs that alter coagulative properties. RESULTS: Time of surgery was longer for patients treated with DA access (mean DA: 78.8 min; mean PL: 74.8 min; p: 0.05; 95% CI), but the length of hospitalization was shorter for patients treated with DA group with a mean time of 6.23 days versus 7.12 days for the PL group (p < 0.01). DA THA resulted advantageous mainly in patients between 66 and 75 years, showing a reduced postoperative transfusion requirement in the postoperative period (DA: 13.43%-mean: 1.33 units; PL: 26.82%-mean: 1.18 units; p: 0.044, 95% CI). Patients that assume blood-altering drugs showed a higher transfusion rate (p < 0.01), but comparison of the two subgroups showed that the choice of the surgical approach did not significantly affect the transfusion rate in these patients (p: 0.512). Prophylaxis with tranexamic acid reduced the transfusion rate (p < 0.01). CONCLUSION: Patients treated by minimally invasive direct anterior approach undergo a significantly shorter hospitalization. From the analysis of patient's subgroups those aged between 66- and 75-years benefit from the DA approach mainly for the minor blood loss with less frequent transfusion requirement.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Ácido Tranexámico , Humanos , Anciano , Artroplastia de Reemplazo de Cadera/métodos , Ácido Tranexámico/uso terapéutico , Estudios Retrospectivos , Pérdida de Sangre Quirúrgica/prevención & control , Hemoglobinas
14.
Mol Psychiatry ; 16(9): 903-7, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21556001

RESUMEN

Apolipoprotein E (APOE) dependent lifetime risks (LTRs) for Alzheimer Disease (AD) are currently not accurately known and odds ratios alone are insufficient to assess these risks. We calculated AD LTR in 7351 cases and 10 132 controls from Caucasian ancestry using Rochester (USA) incidence data. At the age of 85 the LTR of AD without reference to APOE genotype was 11% in males and 14% in females. At the same age, this risk ranged from 51% for APOE44 male carriers to 60% for APOE44 female carriers, and from 23% for APOE34 male carriers to 30% for APOE34 female carriers, consistent with semi-dominant inheritance of a moderately penetrant gene. Using PAQUID (France) incidence data, estimates were globally similar except that at age 85 the LTRs reached 68 and 35% for APOE 44 and APOE 34 female carriers, respectively. These risks are more similar to those of major genes in Mendelian diseases, such as BRCA1 in breast cancer, than those of low-risk common alleles identified by recent GWAS in complex diseases. In addition, stratification of our data by age groups clearly demonstrates that APOE4 is a risk factor not only for late-onset but for early-onset AD as well. Together, these results urge a reappraisal of the impact of APOE in Alzheimer disease.


Asunto(s)
Enfermedad de Alzheimer/genética , Apolipoproteína E3/genética , Apolipoproteína E4/genética , Predisposición Genética a la Enfermedad/genética , Herencia/genética , Factores de Edad , Anciano , Alelos , Enfermedad de Alzheimer/epidemiología , Estudios de Casos y Controles , Femenino , Francia/epidemiología , Genotipo , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Estados Unidos/epidemiología
15.
Dement Geriatr Cogn Disord ; 33(1): 50-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22415141

RESUMEN

BACKGROUND/AIMS: Sleep disturbances are common in the elderly and in persons with cognitive decline. The aim of this study was to describe frequency and characteristics of insomnia, excessive daytime sleepiness, sleep-disordered breathing, REM behavior disorder and restless legs syndrome in a large cohort of persons with mild cognitive impairment or dementia. METHODS: 431 consecutive patients were enrolled in 10 Italian neurological centers: 204 had Alzheimer's disease, 138 mild cognitive impairment, 43 vascular dementia, 25 frontotemporal dementia and 21 Lewy body dementia or Parkinson's disease dementia. Sleep disorders were investigated with a battery of standardized questions and questionnaires. RESULTS: Over 60% of persons had one or more sleep disturbances almost invariably associated one to another without any evident and specific pattern of co-occurrence. Persons with Alzheimer's disease and those with mild cognitive impairment had the same frequency of any sleep disorder. Sleep-disordered breathing was more frequent in vascular dementia. REM behavior disorder was more represented in Lewy body or Parkinson's disease dementia. CONCLUSION: A careful clinical evaluation of sleep disorders should be performed routinely in the clinical setting of persons with cognitive decline. Instrumental supports should be used only in selected patients.


Asunto(s)
Disfunción Cognitiva/epidemiología , Demencia/epidemiología , Trastornos del Sueño-Vigilia/epidemiología , Anciano , Disfunción Cognitiva/complicaciones , Estudios de Cohortes , Estudios Transversales , Demencia/complicaciones , Depresión/epidemiología , Depresión/etiología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Escolaridad , Femenino , Humanos , Italia/epidemiología , Masculino , Pruebas Neuropsicológicas , Polisomnografía , Síndromes de la Apnea del Sueño/epidemiología , Síndromes de la Apnea del Sueño/etiología , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/etiología , Trastornos del Sueño-Vigilia/etiología
16.
Acta Neurol Scand ; 125(5): 319-25, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-21718253

RESUMEN

OBJECTIVE: Restless legs syndrome (RLS) might represent a condition at risk of cardiovascular (and cerebrovascular) disease; the role of sleep periodic leg movements, sleep deprivation, and presence of common risk factors for heart disease in these patients remains to be determined. The aim of this study was to evaluate the eventual presence of risk factors for cerebrovascular disease in RLS. MATERIALS & METHODS: Eighty-seven consecutive patients affected by idiopathic RLS were included in this study together with 81 controls. Blood count, chemistry, and kidney function tests were obtained. We detected subjects suffering from diabetes mellitus, kidney diseases, heart diseases, disk herniation, neuropathy, blood diseases, liver diseases, artery diseases, dyslipidemia, or hypertension. Polysomnography was recorded in 66 patients, and cerebral neuroimaging was obtained in 59 patients with RLS. RESULTS: None of the differences in blood test parameters was statistically significant; however, hypertension was found to be more frequent in controls and dyslipidemia was more frequent in patients with RLS, but this was explained by its higher frequency in patients also affected by obstructive sleep apnea. A diagnosis of cerebrovascular disease was posed for 14 patients with RLS (16.1%), but no predictive factor for its presence was found at the binomial logistic regression. CONCLUSION: Our findings argue against the presence of an altered lipid metabolism as a risk factor for the development of cerebrovascular disease in patients with RLS, even if they do support the idea that cerebrovascular disease might be frequent in this condition.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Trastornos Cerebrovasculares/epidemiología , Síndrome de las Piernas Inquietas/epidemiología , Apnea Obstructiva del Sueño/epidemiología , Anciano , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/diagnóstico , Trastornos Cerebrovasculares/sangre , Trastornos Cerebrovasculares/diagnóstico , Comorbilidad/tendencias , Dislipidemias/sangre , Dislipidemias/diagnóstico , Dislipidemias/epidemiología , Femenino , Humanos , Hipertensión/sangre , Hipertensión/diagnóstico , Hipertensión/epidemiología , Masculino , Persona de Mediana Edad , Síndrome de las Piernas Inquietas/sangre , Síndrome de las Piernas Inquietas/fisiopatología , Factores de Riesgo , Apnea Obstructiva del Sueño/sangre , Apnea Obstructiva del Sueño/diagnóstico
17.
Musculoskelet Surg ; 2022 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-35947326

RESUMEN

Little evidences are available in the literature concerning the outcomes of total knee replacement (TKR) in poliomyelitis patients with severe knee deformities or degeneration. Encouraging results have been reported concerning the use of constrained implants, i.e., rotating hinge knee prosthesis (RHK), compared to less constrained ones. The purpose of this paper is to report our experience with rotating hinge total knee replacement, using only RHK prosthesis, to determine functional results, complications, and survival of TKR in poliomyelitis patients. We performed a retrospective chart review of 14 patients with a history of knee osteoarthritis following poliomyelitis that underwent primary TKR, for a total of 15 surgical procedure (one bilateral case). Preoperative and postoperative clinical measurements have been conducted for all patients using the Knee Society Score (KSS). Hip-knee angle, recurvatum knee angle, and Insall-Salvati index were evaluated with full weight-bearing panoramic view X-ray preoperatively and postoperatively. The 2-year postoperative clinical KSS significantly improved from the preoperative scores. The average clinical KSS improved from 32,9 (range 3-48) preoperatively to 77,4 (range 60-88) postoperatively (P value < 0.005). The average functional KSS improved from 32,5 (range 10-60) preoperatively to 59,4 (range 30-95) postoperatively (P value < 0.005). TKR is a successful treatment in improving knee function and patient's quality of life. Using constrained implants, especially rotating hinge implants in polio patients with a quadriceps muscle weakness, could be a good alternative to maintain a physiological kinematics and reducing the revision rate due to knee instability.

18.
Eur J Neurol ; 17(11): 1326-38, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20443977

RESUMEN

The aim of this review is to provide data on sleep disturbances in three categories of neurodegenerative disorders: synucleinopathies, tauopathies, and other diseases (this heterogeneous group includes also spinocerebellar degeneration and amyotrophic lateral sclerosis). Analysing and knowing sleep disorders in neurodegenerative diseases may offer important insights into the pathomechanism of some of these diseases and calls attention to the still insufficiently known 'sleep neurology'. The identification of sleep disorders in some neurodegenerative conditions may make their diagnosis easier and earlier; for example, rapid eye movements sleep behaviour disorder may precede any other clinical manifestation of synucleinopathies by more than 10 years.


Asunto(s)
Enfermedades Neurodegenerativas/complicaciones , Trastornos del Sueño-Vigilia/etiología , Humanos , Imagen por Resonancia Magnética , Enfermedades Neurodegenerativas/clasificación , Polisomnografía/métodos , Trastornos del Sueño-Vigilia/diagnóstico
19.
G Ital Med Lav Ergon ; 31(3 Suppl B): B42-8, 2009.
Artículo en Italiano | MEDLINE | ID: mdl-20518227

RESUMEN

The object of this task is to study the individual and contextual variables' influence on individual capacity to cope the work accident consequences. The instruments used are: Impact of Event Scale (IES), Coping Orientation to Problems Experienced (COPE) and General Self-Efficacy (GSE). Sample consisted of 112 subjects with a mean age of 53 years, divided between Lazio (48%) and Sicily (52%) e with degree of worker invalidity inclusive among 30% and 100%. The results showed the indicative effect of the contextual variable "region" on intrusive symptoms; the indicative effect of the individual variable "years spent by work-accident" on scales Active coping, Humour, and factor Coping problem oriented; the indicative effect of the individual variable "degree of worker invalidity" on scale Acceptance; the indicative effect of the contextual variable "concomitant job to the accident" on scale Focus on and venting emotions; the indicative effect of the individual variable "degree of education" on scales Planning, Behavioral disengagement, Mental disengagement and factor Coping problem oriented and the GSE total score. Our investigation underlines work accident as potentially traumatic event for its unpredictability characterises and it suggests a few of coping strategies which are used frequently by work invalid to cope the event. This research is a way to turn the attention on the health and to encourage a great conscience of the factors which influence the way according to which workers-invalid cope the event of accident.


Asunto(s)
Accidentes de Trabajo/psicología , Adaptación Psicológica , Personas con Discapacidad , Autoeficacia , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
20.
Eur Respir J ; 32(6): 1656-62, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19043012

RESUMEN

Periodic leg movements during sleep (PLMS) are repetitive jerks of the lower limbs. Their occurrence can be isolated or part of various sleep disorders, such as restless legs syndrome (RLS), narcolepsy and obstructive sleep apnoea. Dopamine agonists are very effective in suppressing PLMS in RLS from the first night of administration. PLMS are often associated with cortical and autonomic arousals and may contribute to sleep disruption. Herein, a case of association between PLMS, Cheyne-Stokes respiration (CSR) and severe insomnia is described. Repeated polysomnographic studies demonstrated a clear synchronisation between PLMS and hyperventilation episodes, and the complete recovery of CSR, sleep quality and PLMS during nocturnal ventilation. In the same patient, pharmacological treatment with a dopamine agonist was ineffective on both PLMS and CSR. These results suggest that periodic leg movements during sleep coupled with central breathing events, similar to those observed in conjunction with obstructive events, may have a different origin in terms of neurotransmitter and pathway implicated, compared with periodic leg movements during sleep in restless legs syndrome, and are resolved by treatment of the respiratory abnormalities.


Asunto(s)
Respiración de Cheyne-Stokes/fisiopatología , Pierna/fisiopatología , Movimiento , Síndrome de las Piernas Inquietas/fisiopatología , Agonistas de Dopamina/metabolismo , Humanos , Extremidad Inferior/fisiopatología , Masculino , Persona de Mediana Edad , Músculos/patología , Polisomnografía/métodos , Sueño , Trastornos del Inicio y del Mantenimiento del Sueño/patología
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