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1.
Epilepsy Behav ; 147: 109409, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37677907

RESUMO

Seizure frequency in treatment-resistant epilepsies seems to be decreased by cannabidiol (CBD), but contrasting data are available on its effect on sleep, behavior, and quality of life (QoL), and no data is reported on its effect on parental stress in patients with epilepsy (PWE). Thus, we conducted a retrospective study on a cohort of children and adults with drug-resistant epilepsy (DRE) who had been treated with highly purified, pharmaceutical-grade CBD to evaluate its effects on seizure frequency, QoL, behavior, parental stress, and sleep. Eighteen patients (12 adults and 6 children) were included in the cohort and followed for a median of 9 months. At the last follow-up (Tn), nine patients (50%) were considered CBD responders with at least a 50% decrease in seizure frequency. No serious adverse effects were found. No statistically significant differences were found concerning sleep, including daytime sleepiness, and no statistically significant effect was found on parental stress at Tn. An improvement was found for social interaction in quality of life (p < 0.05) for all patients. Our results demonstrate that CBD is a safe and effective antiseizure medication (ASM). CBD doesn't seem to affect sleep measures in adults and children or worsen daytime sleepiness. However, CBD improves specific QoL measures, which could indicate a possible use of CBD for other childhood disabilities. No impact of CBD was seen on parental stress, which could possibly be due to the limited follow-up or could mean that parental stress is not dependent on seizure frequency.


Assuntos
Canabidiol , Distúrbios do Sono por Sonolência Excessiva , Epilepsia Resistente a Medicamentos , Epilepsia , Criança , Adulto , Humanos , Canabidiol/uso terapêutico , Anticonvulsivantes/uso terapêutico , Qualidade de Vida , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Convulsões/induzido quimicamente , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/induzido quimicamente , Epilepsia/tratamento farmacológico , Sono , Distúrbios do Sono por Sonolência Excessiva/induzido quimicamente
2.
Eur J Neurol ; 27(12): 2604-2615, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32697863

RESUMO

BACKGROUND AND PURPOSE: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1-weighted and short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.


Assuntos
Distrofia Muscular Facioescapuloumeral , Humanos , Extremidade Inferior , Imageamento por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Distrofia Muscular Facioescapuloumeral/diagnóstico por imagem , Distrofia Muscular Facioescapuloumeral/genética
3.
Eur J Neurol ; 25(3): 602-605, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29284203

RESUMO

BACKGROUND AND PURPOSE: Juvenile- or adult-onset forms of severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated hereditary spastic paraplegia have rarely been described. METHODS: Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. RESULTS: Brain magnetic resonance imaging showed occipital white matter alterations, and electromyography documented a mixed polyneuropathy. Severe hyperhomocisteinemia (>150 µmol/L) associated with the characteristic amino acid profile suggested a diagnosis of severe MTHFR deficiency, confirmed by MTHFR direct sequencing. Treatment with betaine and vitamins benefitted patients' symptoms and diagnostic features. CONCLUSIONS: Severe MTHFR deficiency can be a rare, treatable cause of autosomal recessive complicated hereditary spastic paraplegia. Its screening should be part of the diagnostic flowchart for these disorders.


Assuntos
Homocistinúria/diagnóstico , Deficiência Intelectual/diagnóstico , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/diagnóstico , Paraplegia Espástica Hereditária/diagnóstico , Adulto , Feminino , Humanos , Masculino , Transtornos Psicóticos/diagnóstico , Irmãos , Adulto Jovem
4.
Allergy ; 71(3): 412-5, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26228482

RESUMO

HIV infection is a relative contraindication for allergic immunotherapy (AIT). In the last decade, highly active antiretroviral therapy (HAART) has improved the immune function and life expectancy in HIV-infected patients whose respiratory allergic incidence is similar to the general population. We evaluated the safety and clinical effectiveness of sublingual immunotherapy in a group of grass pollen-allergic HAART-treated HIV-positive patients. Thirteen patients received sublingual immunotherapy (SLIT) tablet (Oralair, Stallergenes©) and symptomatic therapy and were compared with nine patients receiving symptomatic therapy alone. Clinical benefits were evaluated by the analysis of total combined score (TCS), sum of symptom-medication score, and a quality of life (QoL) questionnaire. HIV viral load and peripheral TCD4 lymphocytes were analyzed at the beginning and at the end of the study. Clinical efficacy data showed a significant improvement in SLIT-treated patients compared to controls (TCS: P = 0.0001; QoL: P = 0.03). We did not observe any significant alteration of TCD4 cell counts and viral load (VL) in both groups. Our preliminary data showed that SLIT therapy in viro-immunological controlled HAART treated HIV positive patients was efficacious, safe and well tolerated.


Assuntos
Infecções por HIV/complicações , Rinite Alérgica Sazonal/complicações , Rinite Alérgica Sazonal/terapia , Imunoterapia Sublingual , Adulto , Alérgenos/administração & dosagem , Alérgenos/imunologia , Terapia Antirretroviral de Alta Atividade , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Infecções por HIV/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Rinite Alérgica Sazonal/epidemiologia , Rinite Alérgica Sazonal/imunologia , Imunoterapia Sublingual/métodos
5.
Vet Pathol ; 53(5): 941-61, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27381403

RESUMO

Veterinary pathologists commonly encounter lesions of blunt trauma. The development of lesions is affected by the object's mass, velocity, size, shape, and angle of impact and by the plasticity and mobility of the impacted organ. Scrape, impact, and pattern abrasions cause localized epidermal loss and sometimes broken hairs and implanted foreign material. Contusions are best identified after reflecting the skin, and must be differentiated from coagulopathies and livor mortis. Lacerations-traumatic tissue tears-may have irregular margins, bridging by more resilient tissue, deviation of the wound tail, crushed hairs, and unilateral abrasion. Hanging or choking can cause circumferential cervical abrasions, contusions and rupture of hairs, hyoid bone fractures, and congestion of the head. Other special forms of blunt trauma include fractured nails, pressure sores, and dog bites. Ocular blunt trauma causes extraocular and intraocular hemorrhages, proptosis, or retinal detachment. The thoracic viscera are relatively protected from blunt trauma but may develop hemorrhages in intercostal muscles, rib fractures, pulmonary or cardiac contusions or lacerations with subsequent hemothorax, pneumothorax, or cardiac arrhythmia. The abdominal wall is resilient and moveable, yet the liver and spleen are susceptible to traumatic laceration or rupture. Whereas extravasation of blood can occur after death, evidence of vital injury includes leukocyte infiltration, erythrophagocytosis, hemosiderin, reparative lesions of fibroblast proliferation, myocyte regeneration in muscle, and callus formation in bone. Understanding these processes aids in the diagnosis of blunt force trauma including estimation of the age of resulting injuries.


Assuntos
Patologia Legal , Patologia Veterinária , Ferimentos não Penetrantes/veterinária , Traumatismos Abdominais/diagnóstico , Traumatismos Abdominais/patologia , Traumatismos Abdominais/veterinária , Animais , Autopsia/veterinária , Contusões/diagnóstico , Contusões/patologia , Contusões/veterinária , Traumatismos Cranianos Fechados/diagnóstico , Traumatismos Cranianos Fechados/patologia , Traumatismos Cranianos Fechados/veterinária , Lacerações/diagnóstico , Lacerações/patologia , Lacerações/veterinária , Músculo Esquelético/lesões , Músculo Esquelético/patologia , Traumatismos Torácicos/diagnóstico , Traumatismos Torácicos/patologia , Traumatismos Torácicos/veterinária , Ferimentos não Penetrantes/diagnóstico , Ferimentos não Penetrantes/patologia
6.
J Wound Care ; 25(8): 443-50, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27523656

RESUMO

OBJECTIVE: Chronic ulcers are an intractable problem in many patients and are associated with impaired quality of life and high health-care costs. In an attempt to improve outcome, our centre began cleansing wounds with a novel spray acidoxidising solution (Nexodyn) with unique physicochemical features, pH <3.0; oxidation reduction potential >1000mV; and free chlorine content (>95% HClO). METHOD: A retrospective analysis was conducted in patients with numerous comorbidities and an unsatisfactory response to standard therapy. The solution was administered for six weeks and the patients' clinical course evaluated using standard measures of wound healing, pain and bioburden. RESULTS: We assessed 20 patients with a mean time since ulcer onset of 23.7 months. Complete resolution of the lesion was achieved in 25% of cases (p=0.005). In the group as a whole, wound size decreased significantly (11% mean reduction versus baseline; p=0.039). In the relatively short six-week observation period, significant reductions versus baseline were also observed in control of wound bioburden (p=0.005) and ulcer-related pain score (p<0.001). Furthermore, the wound bed preparation score suggests an improved wound microenvironment with better wound bed cleansing and the presence of granulation tissue. There were no adverse systemic effects of treatment nor adverse local effects in the wound bed or on healthy periwound skin. CONCLUSION: Encouraging initial results in a population refractory to standard management provide evidence that this new product may make a helpful contribution to the care of chronic ulcers. The integration of this cleansing solution into standard care contributes to the modulation of local microenvironmental responses that inhibit physiological healing processes while also contributing to the reduction of bacterial load.


Assuntos
Doença Crônica/tratamento farmacológico , Oxidantes/uso terapêutico , Úlcera por Pressão/tratamento farmacológico , Soluções/uso terapêutico , Úlcera Varicosa/tratamento farmacológico , Cicatrização/fisiologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
7.
J Wound Care ; 25(11): 670-678, 2016 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-27827280

RESUMO

OBJECTIVE: To collate clinical evidence on the use of a native collagen matrix dressing, consisting of a fibrillary collagen network, in patients with a variety of chronic wounds. METHOD: Patients whose wounds had not improved in the eight weeks before the beginning of the evalutaion were recruited. All participants had their dressings changed twice weekly and received standard adjunctive wound care as part of their treatment. Data, collected over a 4-week period, included: patient demographics, wound surface area measurements, Bates-Jensen score, level of wound pain, wound infection status, wound bed preparation staging score, depth of wound according to tissue type, and photographic imaging of patients' wounds. RESULTS: We recruited 19 patients with 20 wounds and a mean wound duration of 66.6 months (range: 4-480 months). There was a mean decrease in wound surface area of 29% (median reduction: 47%). A reduction in the Bates-Jensen score was demonstrated in 85% of cases. Wound pain reduced by 66.66% and the wound bed preparation score reduced in 16 wounds with four remaining static. No adverse events arose. CONCLUSION: This case series provides clinical evidence on the use of a native collagen matrix dressing in the management of hard-to-heal wounds that have previously received local standard therapy. The decrease in wound surface area together with other data indicating improved wound status suggests that a native collagen matrix dressing supports healing and improves quality of life through reduction in wound pain.


Assuntos
Antibacterianos/uso terapêutico , Curativos Hidrocoloides , Colágeno/uso terapêutico , Dor/tratamento farmacológico , Úlcera Varicosa/terapia , Cicatrização/fisiologia , Infecção dos Ferimentos/prevenção & controle , Idoso , Idoso de 80 Anos ou mais , Doença Crônica/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida
8.
Clin Exp Obstet Gynecol ; 42(6): 743-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26753476

RESUMO

PURPOSE OF INVESTIGATION: To evaluate the effect of soy isoflavones and inulin (SII) on hot flushes (HF) and quality of life in a clinical setting, the authors conducted an observational study. MATERIALS AND METHODS: The authors performed an observational, prospective, multicentric study on women in peri-/post-menopause treated or untreated with a product present on the Italian market, consisting in a mixture of calcium (500 mg), vitamin D3 (300 IU), inulin (3 g) and soy isoflavones (40 mg). RESULTS: A total of 135 patients, 75 (55.6%) in the SII group and 60 (44.4%) in the untreated group entered the study. After three months, the mean number of HF declined of 2.8 (SD 3.7) in the SII group and 0.0 in the untreated one. The corresponding values after six months were -3.7 (SD 2.7) in the SII group and -0.9 (SD 5.3) in the control group (p = 0.02). CONCLUSION: This observational trial suggests a possible beneficial effect of a dietary soy supplement containing 40 mg of isoflavone/day plus inulin in the management of menopausal symptoms such as hot flashes.


Assuntos
Fogachos/tratamento farmacológico , Inulina/administração & dosagem , Isoflavonas/administração & dosagem , Qualidade de Vida , Cálcio/administração & dosagem , Colecalciferol/administração & dosagem , Suplementos Nutricionais , Quimioterapia Combinada , Feminino , Fogachos/fisiopatologia , Humanos , Menopausa , Pessoa de Meia-Idade , Estudos Prospectivos , Glycine max , Resultado do Tratamento
9.
Neuroscience ; 536: 72-78, 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38000546

RESUMO

Autism is a neurodevelopmental disorder that is more frequently diagnosed in men. Nevertheless, through current diagnostic tools, women have also been found to be affected by this disorder, but in different ways. Few studies have been conducted regarding unique periods of life, such as motherhood. Yet, extant literature has already described the existence of a comorbidity between autism and postpartum depression. Thus, this study aimed to compare the maternal care sphere between two animal models of these diseases. Lactating rats were subdivided into three groups (n = 8 animals/group): 1) control dams; 2) maternal separation (MS) dams, separated from their litter for 3 h daily from lactating day (LD) 2-12 for postpartum depression induction; and 3) valproic acid (VPA) dams, which were the pups of dams treated with 400 mg/kg of VPA (i.p.) on gestational day 12.5 for autism induction. Maternal care tests were performed during lactation and, after weaning, dams were euthanized for the analysis of dopaminergic system on the prefrontal cortex. The results showed an impairment of maternal care of MS dams and an improvement of VPA dams, as well as alterations on dopaminergic system that corroborates the behavior data. These findings indicate that VPA dams express better maternal care, even with cognitive and socialization difficulties. This is probably due to a hyper-focus, as opposed to MS dams, which mimic the maternal care dysfunction expressed by women with postpartum depression.


Assuntos
Transtorno Autístico , Depressão Pós-Parto , Humanos , Masculino , Ratos , Animais , Feminino , Lactação , Privação Materna , Comportamento Materno/psicologia
10.
Eur J Neurol ; 20(12): 1553-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23865856

RESUMO

BACKGROUND AND PURPOSE: We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene. METHODS: Of the total number of 28 examined Finnish and Italian patients 23 underwent lower limb muscle imaging. RESULTS: At the early stages of the disease fatty degeneration in T1-weighed MRI sequences were observed in the soleus, adductor magnus, semimembranosus and biceps femoris muscles followed by medial gastrocnemius, adductor longus and later by vasti muscles of the quadriceps. Rectus femoris, lateral gastrocnemius, sartorius, gracilis and the anterolateral group of the lower leg muscles were spared until late senecence. The pattern of differential involvement could be identified at different stages of the disease process. CONCLUSIONS: Since the general clinical findings do not provide clues for diagnosis this distinct pattern of muscle involvement and pathognomonic imaging findings are highly relevant in the clinical setting. The pattern of muscle involvement is so typical that it can be used as a differential diagnostic tool for LGMD1D. The final diagnosis however requires molecular genetic confirmation.


Assuntos
Proteínas de Choque Térmico HSP40/genética , Chaperonas Moleculares/genética , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/patologia , Proteínas do Tecido Nervoso/genética , Adulto , Idoso , Feminino , Finlândia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem
12.
Nat Genet ; 1(5): 359-67, 1992 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-1284549

RESUMO

Large-scale deletions of mitochondrial DNA (mtDNA) are associated with a subgroup of mitochondrial encephalomyopathies. We studied seven patients with Kearns-Sayre syndrome or isolated ocular myopathy who harboured a sub-population of partially-deleted mitochondrial genomes in skeletal muscle. Variable cytochrome c oxidase (COX) deficiencies and reduction of mitochondrially-encoded polypeptides were found in affected muscle fibres, but while many COX-deficient fibres had increased levels of mutant mtDNA, they almost invariably had reduced levels of normal mtDNA. Our results suggest that a specific ratio between mutant and wild-type mitochondrial genomes is the most important determinant of a focal respiratory chain deficiency, even though absolute copy numbers may vary widely.


Assuntos
DNA Mitocondrial/genética , Síndrome de Kearns-Sayre/genética , Miopatias Mitocondriais/genética , Miopatias Mitocondriais/patologia , Músculos Oculomotores/patologia , Deleção de Sequência , Southern Blotting , Deficiência de Citocromo-c Oxidase , Sondas de DNA , Complexo IV da Cadeia de Transporte de Elétrons/genética , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Humanos , Imuno-Histoquímica , Hibridização In Situ , Síndrome de Kearns-Sayre/enzimologia , Síndrome de Kearns-Sayre/patologia , Síndrome MELAS/genética , Síndrome MERRF/genética , Miopatias Mitocondriais/enzimologia , Músculos Oculomotores/enzimologia , Reação em Cadeia da Polimerase/métodos , RNA/análise , RNA/genética , RNA Mitocondrial , Succinato Desidrogenase/genética , Succinato Desidrogenase/metabolismo
13.
Minerva Chir ; 68(1): 105-16, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23584270

RESUMO

AIM: The aims of this study were to evaluate the performance and effectiveness of an antibedsore overlay in 3D structure of new conception towards an overlay of common use. Evaluation parameters: wound area reduction, healing, safety and comfort. METHODS: Open randomized multicenter study comparing the two overlays for the treatment and prevention of pressure sores. Patients were recruited in long-term carewards. Recruitment and randomization systems were made using envelopes, with goal of 70 patients with pressure ulcers from I to IV degree. Observation period was extended for 12 weeks. Data collection was made using paper CRF. RESULTS: We enrolled 72 patients: 35 in the study group and 37 in the control. The two groups were similar. Mortality during the observation period was 13.8% (unrelated events). Approximately 50% of patients withdrew from the study before the end (trend in favor of the overlay three-dimensional). The resolution of the lesions occurred in 8 cases (11.1%), 3 cases in the overlay 3D and 5 in the gel group (P=NS). The reduction of the area was in favor of the three-dimensional overlay (P<0.005%), data with significance were obtained also in patient comfort (P=0.08) and ease of care (P<0.001). CONCLUSION: The first objective of this study was to evaluate the effectiveness of an innovative antibedsore overlay versus a commonly used one. The data obtained showed a better performance, both in terms of treatment of lesions and in terms of comfort for the patients and the operators.


Assuntos
Géis/uso terapêutico , Curativos Oclusivos , Úlcera por Pressão/terapia , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Desenho de Equipamento , Feminino , Seguimentos , Humanos , Itália , Masculino , Úlcera por Pressão/mortalidade , Resultado do Tratamento
14.
Clin Ter ; 174(1): 33-41, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36655642

RESUMO

Background: In the workplace, it is increasingly important to promote interventions to improve the work environment that can combine compliance with regulations related to worker health and safety protection with health promotion interventions. The objective of our study is to investigate the status of the implementation of various health management measures through questionnaires submitted to Occupational Physicians (OPs) and Prevention and Protection Service Managers (PPSMs). Methods: This study was conducted between September 2022 and November 2022. Healthcare professionals were invited to voluntarily answer the questions, administered through a Google form, of a standardized questionnaire (Cronbach's alpha=0.887) based on the study made by Hoge et al. (2019): the first part collected demographic information and the other four were relating to the state of implementation of interventions attributable to the Total Worker Health® approach. Results: 89 OPs and PPSMs were involved. The univariate and multivariate analysis shows that, overall, women and PPSMs have a higher degree of dissatisfaction related to various health management measures within companies; most workers are fairly satisfied with health and safety protection in the workplace; finally, according to healthcare professionals, aspects of primary prevention and work management/organization would need to be improved. Conclusions: This study shows that in Italian companies there is often no full application of Total Worker Health® principles. The affirmation of this approach, awareness should be raised, first and foremost, among employers, but also among prevention figures and consultants about all the benefits of Total Worker Health®: one among all, an 'economic' advantage.


Assuntos
Saúde Ocupacional , Médicos , Humanos , Feminino , Promoção da Saúde , Local de Trabalho , Pessoal de Saúde
15.
Eur J Neurol ; 19(9): 1256-60, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22583668

RESUMO

BACKGROUND AND PURPOSE: Duchenne muscular dystrophy carriers represent a rare condition that needs to be recognized because of the possible implications for prenatal diagnosis. Muscle biopsy is currently the diagnostic instrument of choice in sporadic patients. We wanted to verify whether muscle magnetic resonance imaging (MRI) could identify a pattern of involvement suggestive of this condition and whether it was similar to that reported in Duchenne and Becker muscular dystrophy. METHODS: Evaluation of pelvic and lower limb MRI scans of 12 dystrophinopathy carriers was performed. RESULTS: We found a frequent involvement of the quadratus femoris, gluteus maximus and medius, biceps femoris long head, adductor magnus, vasti and paraspinal muscles, whilst the popliteus, iliopsoas, recti abdominis, sartorius, and gracilis were relatively spared. Asymmetry was a major feature on MRI; it could be detected significantly more often than with sole clinical examination and even in patients without weakness. CONCLUSIONS: The pattern we describe here is similar to that reported in Duchenne and Becker muscular dystrophy, although asymmetry represents a major distinctive feature. Muscle MRI was more sensitive than clinical examination for detecting single muscle involvement and asymmetry. Further studies are needed to verify the consistency of this pattern in larger cohorts and to assess whether muscle MRI can improve diagnostic accuracy in carriers with normal dystrophin staining on muscle biopsy.


Assuntos
Heterozigoto , Imageamento por Ressonância Magnética/métodos , Músculo Esquelético/patologia , Distrofia Muscular de Duchenne/patologia , Adulto , Doenças Assintomáticas , Estudos de Coortes , Feminino , Humanos , Extremidade Inferior/patologia , Pessoa de Meia-Idade , Distrofia Muscular de Duchenne/genética , Pelve/patologia , Estudos Retrospectivos
16.
Clin Ter ; 173(1): 64-66, 2022 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-35147649

RESUMO

ABSTRACT: COVID-19 has dramatically affected working forces. We aim to report our occupational medicine service's experience in managing suspected COVID-19 cases during the pandemic through a retrospec-tive observational study. We compared the number of days employees were absent from work due to flu-like symptoms from March 2020 to February 2021 to the same period the previous year (2019-2020). Two hundred thirty-four patients (+47.2% compared to the previous year) who tested negative for SARS-CoV-2 reported flu-like symp-toms; the number of days of absence from work was 2812 (+190.2% compared to the previous year). On average, employees with flu-like symptoms lost 12.07 working days compared to 6.12 in the previous year (p<0.0001). In conclusion, in our sample COVID-19 has increased the number of working day loss. However, our approach proved to be important, especially during the first months of the pandemic, to limit SARS-CoV-2 spread in workplaces.


Assuntos
COVID-19 , Pandemias , Humanos , Itália/epidemiologia , Cidade de Roma/epidemiologia , SARS-CoV-2
17.
Neuromuscul Disord ; 32(5): 410-418, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35248449

RESUMO

Upper body muscle involvement has never been systematically investigated in GNE myopathy (GNEM). Aims of our study were to explore upper body involvement in GNEM patients by means of muscle MRI, to compare the degree of pathology with that of lower body and to validate the MRI pattern of the lower limbs in novel patients. MRI scans of 9 GNEM patients were retrospectively evaluated. T1-weighted and short-tau inversion recovery images were scored. As a result, serratus anterior was involved in all patients, followed by subscapularis and trapezius muscles. The majority of scans consistently showed hypotrophy of pectoralis minor. Conversely, cranial muscles including the tongue were always spared while pectoralis major and latissimus dorsi were relatively spared. We confirmed the known pattern of involvement in the pelvic girdle and limbs, that were more significantly affected than the upper girdle in all disease stages. Paraspinal muscles were also frequently affected displaying both a cranio-caudal and latero-medial gradient of severity along the body axis. Upper girdle MRI highlights a selective muscle involvement in GNEM, offering an added value in patients' diagnostic workup and deep stratification.


Assuntos
Miopatias Distais , Miopatias Distais/patologia , Humanos , Extremidade Inferior/patologia , Imageamento por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Estudos Retrospectivos
18.
HIV Med ; 11(1): 40-5, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19686438

RESUMO

BACKGROUND: Atazanavir (ATV) has demonstrated high efficacy and safety in both treatment-naïve and treatment-experienced patients. Some comparative data are available on the durability of ritonavir-boosted (ATV/r) and unboosted formulations, but there are no data on clinicians' motivations for choosing one or another in everyday practice. The aim of this study was to evaluate the long-term efficacy of boosted and unboosted ATV in a cohort of treatment-experienced patients. METHODS: All patients included in the study were enrolled in an observational cohort within the Surveillance Cohort Long-Term Toxicity Antiretrovirals (SCOLTA) Project. Data on CD4 cell count, HIV viral load, metabolic parameters and adverse events of grade 3-4 are collected through an on-line system every six months. The duration of treatment with ATV was evaluated using the Kaplan-Meier curve and boosted and unboosted regimens were compared using the log-rank test. RESULTS: A total of 509 patients starting ATV as a component of their antiretroviral therapy were enrolled in the SCOLTA Project at the time of the study. Boosted ATV was received by 379 patients (74.5%) while 130 (25.5%) were treated with the unboosted formulation. The last therapeutic regimen did not influence the choice of ATV formulation. The mean observational time was 23.9 months. At the end of follow-up, 58.5% of patients on unboosted ATV and 58.1% of patients on ATV/r continued the treatment and no statistically significant differences were observed for ATV durability between the formulations or among the single causes of therapy interruption. CONCLUSIONS: Our results suggest that, in unselected clinical settings, ATV-containing antiretroviral therapy is durable and safe in both its formulations.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Infecções por HIV/tratamento farmacológico , Inibidores da Protease de HIV/uso terapêutico , Oligopeptídeos/uso terapêutico , Piridinas/uso terapêutico , Ritonavir/uso terapêutico , Adenina/análogos & derivados , Adenina/uso terapêutico , Adulto , Fármacos Anti-HIV/efeitos adversos , Terapia Antirretroviral de Alta Atividade/métodos , Sulfato de Atazanavir , Contagem de Linfócito CD4 , Estudos de Coortes , Esquema de Medicação , Interações Medicamentosas , Feminino , Inibidores da Protease de HIV/efeitos adversos , Humanos , Estimativa de Kaplan-Meier , Masculino , Oligopeptídeos/efeitos adversos , Organofosfonatos/uso terapêutico , Piridinas/efeitos adversos , Inibidores da Transcriptase Reversa/uso terapêutico , Ritonavir/efeitos adversos , Tenofovir , Resultado do Tratamento , Carga Viral
19.
Int J STD AIDS ; 21(4): 267-72, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20378899

RESUMO

The aim of the study was to evaluate the cardiovascular risk factors associated with subclinical carotid atherosclerosis in antiretroviral therapy-naïve HIV-infected patients. The HERMES (HIV Exposure and Risk of Metabolic Syndrome) study enrolled therapy-naïve patients attending hospitals in the Italian coordination group for the study of allergies and HIV infection (CISAI [Coordinamento Italiano per lo Studio Allergia e Infezione da HIV]) in 2007. It was designed to identify metabolic syndrome (MS) and cardiovascular risk factors. The present analysis is a nested cross-sectional study with a subset of patients examined by carotid ultrasonography. Consecutive antiretroviral therapy-naïve HIV patients attending the facilities involved in the CISAI were included. Their 10-year probability of cardiovascular events was calculated using the Framingham Risk Score (FRS) and three other cardiovascular algorithms (the Global Framingham Risk Score - GFRS, 'Progetto Cuore' and 'SCORE'). Vascular age was estimated using a new model derived from GFRS and was compared with chronological age. The diagnosis of MS was based on the National Cholesterol Education Programme and International Diabetes Federation (IDF) definitions. Subclinical atherosclerosis was determined as ultrasound carotid intima-media thickness >0.9 mm. Out of 140 patients enrolled in the HERMES study by the four centres participating in the nested study, a total of 72 (51.4%) subjects, with no overt cardiovascular disease, were examined using carotid ultrasonography. The median age was 40 years, 79.2% men. The vascular age was 7.6 years higher than the chronological age. The factors associated with subclinical atherosclerosis were age (P < 0.0001), vascular age (P = 0.0002), body mass index (P = 0.003), waist circumference (P = 0.0002), MS (IDF definition, P = 0.004) and all the cardiovascular (CV) models (FRS, P = 0.01, GFRS, P = 0.002, Progetto Cuore, P = 0.018, SCORE, P = 0.03). Independent of other significant factors, waist circumference was significantly associated with pathological results (P = 0.007). The GFRS (area under the receiver-operating characteristic curves, 0.78; P < 0.001) had slightly better predictive accuracy than the other three CV models (FRS, areas under the curve [AUC] = 0.71, P = 0.003; Progetto Cuore, AUC = 0.74, P = 0.0005; SCORE, AUC = 0.77, P < 0.0001); 55% of patients at intermediate risk (6-20%) had subclinical carotid lesions. Subclinical carotid lesions had a highly significant direct association with all the CV risk predictors. The GFRS and vascular age were highly predictive. We recommend a carotid ultrasonographic examination at least among HIV patients with GFRS > or =6% or with an elevated waist circumference.


Assuntos
Aterosclerose/epidemiologia , Doenças das Artérias Carótidas/epidemiologia , Infecções por HIV/complicações , Adulto , Aterosclerose/diagnóstico por imagem , Aterosclerose/virologia , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/virologia , Estudos Transversais , Feminino , Humanos , Itália , Masculino , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/virologia , Pessoa de Meia-Idade , Curva ROC , Medição de Risco , Fatores de Risco , Túnica Íntima/diagnóstico por imagem , Túnica Média/diagnóstico por imagem , Ultrassonografia
20.
Climacteric ; 13(5): 447-56, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20146574

RESUMO

OBJECTIVES: To analyze the sexuality of Italian menopausal women. DESIGN: Cross-sectional study. POPULATION: Menopausal women consecutively observed during the study period in menopause clinics. METHODS: Women were interviewed about their current and premenopausal sexual activity: sexual intercourse frequency and self-rated sexual desire, capacity for orgasm and sexual satisfaction were recorded. Women were defined as having poor sexual functioning if they had one or less sexual intercourses per week or answered 'absent/poor' to the questions about the sexual domains. RESULTS: Oral hormone therapy (HT) use (odds ratio (OR) 0.43 for desire, 0.54 for orgasm and 0.56 for overall sexual satisfaction, all p < 0.001) and transdermal HT (OR 0.38, 0.53 and 0.53, respectively, all p < 0.001) were significantly associated with lower risk of poor sexual functioning. Higher physical and mental component scores (PCS and MCS, range 0-100) of the Short Form-12 are inversely related to poor sexual functioning (OR by point 0.96, 0.95, 0.95 for PCS and 0.96, 0.96 and 0.95, for MCS, respectively, all p < 0.001). Pain during and symptoms after sexual intercourse were significantly related to desire (OR 1.96 and 1.78, respectively), orgasm (OR 2.22 and 2.06, respectively) and sexual satisfaction (OR 2.02 and 1.79, respectively). The partner's health problems were associated with low sexual intercourse frequency (OR 4.18, p < 0.001) and absent/poor overall satisfaction (OR 2.61, p < 0.001). CONCLUSIONS: This study shows that, in menopausal Italian women attending menopause clinics, sexual function is associated with the quality of sexual life in reproductive age, partner's health status, current quality of life, HT and occurrence of pain during and symptoms after sexual intercourse.


Assuntos
Menopausa , Qualidade de Vida , Comportamento Sexual/estatística & dados numéricos , Disfunções Sexuais Psicogênicas/epidemiologia , Saúde da Mulher , Adulto , Estudos Transversais , Feminino , Humanos , Itália/epidemiologia , Libido , Estilo de Vida , Pessoa de Meia-Idade , Comportamento Sexual/psicologia , Disfunções Sexuais Psicogênicas/psicologia , Inquéritos e Questionários
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