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PURPOSE: Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) project was to improve the care provided to patients with TS by harnessing the knowledge and expertise of various Italian centers through a Delphi-like consensus process. METHODS: A panel of 15 physicians and 1 psychologist discussed 4 key domains: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. RESULTS: A total of 41 consensus statements were drafted. The transition from pediatric to adult care is a critical period for patients with TS, necessitating tailored approaches and early disclosure of the diagnosis to promote self-reliance and healthcare autonomy. Fertility preservation and bone health strategies are recommended to mitigate long-term complications, and psychiatric evaluations are recommended to address the increased prevalence of anxiety and depression. The consensus also addresses the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS; regular screenings and interventions are advised to manage these conditions effectively. In addition, cardiac abnormalities, including aortic dissections, require regular monitoring and early surgical intervention if certain criteria are met. CONCLUSIONS: The TRAMITI consensus statement provides valuable insights and evidence-based recommendations to guide healthcare practitioners in delivering comprehensive and patient-centered care for patients with TS. By addressing the complex medical and psychosocial aspects of the condition, this consensus aims to enhance TS management and improve the overall well-being and long-term outcomes of these individuals.
The TRansition Age Management in Turner syndrome in Italy (TRAMITI) project aims to improve care for individuals with Turner Syndrome (TS) during their transition from pediatric to adult care. A team of 15 physicians and 1 psychologist collaborated to create a comprehensive set of 41 consensus statements, covering four key areas: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. The consensus statements highlight the importance of patient-centered care, early intervention and long-term monitoring. They emphasize a multidisciplinary approach to address the complex medical and psychosocial aspects of TS. During the critical transition period, tailored approaches and early disclosure of the diagnosis are recommended to promote self-reliance and healthcare autonomy. To mitigate long-term complications, the consensus addresses fertility preservation and bone health strategies. It also recommends psychological or psychiatric evaluations to tackle the increased prevalence of anxiety and depression in patients with TS. In addition, strategies for addressing the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS are proposed. Regular screenings and interventions are advised to effectively manage these conditions. Furthermore, cardiac abnormalities, including aortic dissections, require close monitoring and early surgical intervention if specific criteria are met. Overall, the TRAMITI consensus statement provides valuable insights and evidence-based recommendations. It offers guidance for healthcare practitioners in delivering comprehensive and patient-centered care for individuals with TS. By addressing both medical and psychosocial aspects, the consensus aims to enhance TS management and improve the well-being and long-term outcomes of those affected by this genetic disorder.
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Consenso , Transição para Assistência do Adulto , Síndrome de Turner , Humanos , Síndrome de Turner/terapia , Síndrome de Turner/psicologia , Itália/epidemiologia , Transição para Assistência do Adulto/normas , Transição para Assistência do Adulto/organização & administração , Adulto , Feminino , Criança , Adolescente , Técnica DelphiRESUMO
Profound immune dysregulation and impaired response to the SARS-CoV-2 vaccine put patients with chronic lymphocytic leukemia (CLL) at risk of severe COVID-19. We compared humoral memory and T-cell responses after booster dose vaccination or breakthrough infection. (Green) Quantitative determination of anti-Spike specific antibodies. Booster doses increased seroconversion rate and antibody titers in all patient categories, ultimately generating humoral responses similar to those observed in the postinfection cohort. In detail, humoral response with overscale median antibody titers arose in >80% of patients in watch and wait, off-therapy in remission, or under treatment with venetoclax single-agent. Anti-CD20 antibodies and active treatment with BTK inhibitors (BTKi) represent limiting factors of humoral response, still memory mounted in ~40% of cases following booster doses or infection. (Blue) Evaluation of SARS-CoV-2-specific T-cell responses. Number of T-cell functional activation markers documented in each patient. The vast majority of patients, including those seronegative, developed T-cell responses, qualitatively similar between treatment groups or between vaccination alone and infection cases. These data highlight the efficacy of booster doses in eliciting T-cell immunity independently of treatment status and support the use of additional vaccination boosters to stimulate humoral immunity in patients on active CLL-directed treatments.
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COVID-19 , Leucemia Linfocítica Crônica de Células B , Humanos , SARS-CoV-2 , Leucemia Linfocítica Crônica de Células B/tratamento farmacológico , Vacinas contra COVID-19 , Anticorpos , Subunidade alfa de Receptor de Interleucina-2 , Imunidade Celular , Anticorpos Antivirais , VacinaçãoRESUMO
PURPOSE: 25OHD levels in patients with Prader-Willi Syndrome (PWS), the most frequent cause of genetic obesity with a peculiar fat mass distribution, are still debated. Insulin resistance (IR), Body Mass Index-SDS (BMI-SDS), Growth Hormone Therapy (GHT), and puberty onset seem to interact with 25OHD levels. The objectives of the study are: (1) To analyze 25OHD levels in pediatric PWS patients in comparison with a control group (CNT) (2) To evaluate a possible correlation between BMI-SDS, HOMA-IR, puberty, GHT, and 25OHD levels. METHODS: This is a retrospective case-control, multicenter study. Data were collected among 8 different Italian Hospitals (outpatient clinics), over a period of four years (2016-2020). We included 192 genetically confirmed PWS and 192 CNT patients, aged 3-18 years, matched 1:1 for age, gender, BMI-SDS, Tanner stage, sun exposure, and month of recruitment. RESULTS: No statistically significant differences in 25OHD levels were observed between the PWS population and the CNT (PWS 24.0 ng/mL vs CNT 22.5 ng/mL, p > 0.05), OR = 0.89 (95% CI 0.58-1.35). We observed a slight, although non-significant, reduction in 25OHD levels comparing NW and OB populations. HOMA-IR, puberty onset, genotype and GHT (previous or ongoing) did not show statistically significant correlation with 25OHD levels. CONCLUSIONS: Our findings could be useful for clinicians to optimize the therapeutic management as well as to increase awareness of PWS.
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Hormônio do Crescimento Humano , Resistência à Insulina , Síndrome de Prader-Willi , Criança , Humanos , Adolescente , Síndrome de Prader-Willi/tratamento farmacológico , Estudos de Casos e Controles , Estudos Retrospectivos , Hormônio do Crescimento Humano/uso terapêutico , Itália , Vitamina D/uso terapêuticoRESUMO
PURPOSE: Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to estimate the incidence of comorbid conditions along the life course. METHODS: A total of 160 Italian patients with TS diagnosed from 1967 to 2010 were regularly and structurally monitored from the diagnosis to December 2019 at the University Hospital of Bologna using a structured multidisciplinary monitoring protocol. RESULTS: The study cohort was followed up for a median of 27 years (IQR 12-42). Autoimmune diseases were the comorbid condition with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8%), type 2 diabetes (16.2%) and tumours (15.1%). Median age of onset ranged from 22 years for autoimmune diseases to 39 years for type 2 diabetes. Malignant tumours were the most prominent type of neoplasm, with a cumulative incidence of 11.9%. Papillary thyroid carcinoma was the most common form of cancer, followed by skin cancer and cancer of the central nervous system. Only one major cardiovascular event (acute aortic dissection) was observed during follow-up. No cases of ischaemic heart disease, heart failure, stroke or death were recorded. CONCLUSIONS: This cohort study confirms the need for continuous, structured and multidisciplinary lifelong monitoring of TS, thus ensuring the early diagnosis of important comorbid conditions, including cancer, and their appropriate and timely treatment. In addition, these data highlight the need for the increased surveillance of specific types of cancer in TS, including thyroid carcinoma.
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Doenças Autoimunes , Diabetes Mellitus Tipo 2 , Neoplasias , Síndrome de Turner , Adulto , Humanos , Adulto Jovem , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Estudos de Coortes , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Neoplasias/complicações , Neoplasias/epidemiologia , Doenças Autoimunes/complicaçõesRESUMO
Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. The three main genetic subtypes are represented by paternal 15q11-q13 deletion, maternal uniparental disomy 15, and imprinting defect. Clinical picture of PWS changes across life stages. The main clinical characteristics are represented by short stature, developmental delay, cognitive disability and behavioral diseases. Hypotonia and poor suck resulting in failure to thrive are typical of infancy. As the subjects with PWS age, clinical manifestations such as hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities including growth hormone and thyroid-stimulating hormone deficiencies, hypogonadism and central adrenal insufficiency due to hypothalamic dysfunction occur. Obesity and its complications are the most common causes of morbidity and mortality in PWS. Several mechanisms for the aetiology of obesity in PWS have been hypothesized, which include aberration in hypothalamic pathways of satiety control resulting in hyperphagia, disruption in hormones regulating appetite and satiety and reduced energy expenditure. However, despite the advancement in the research field of the genetic basis of obesity in PWS, there are contradictory data on the management. Although it is mandatory to adopt obesity strategy prevention from infancy, there is promising evidence regarding the management of obesity in adulthood with current obesity drugs along with lifestyle interventions, although the data are limited. Therefore, the current manuscript provides a review of the current evidence on obesity and PWS, covering physiopathological aspects, obesity-related complications and conservative management.
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Obesidade/complicações , Síndrome de Prader-Willi/patologia , Animais , Humanos , Fenótipo , Síndrome de Prader-Willi/tratamento farmacológico , Síndrome de Prader-Willi/etiologiaRESUMO
PURPOSE: Gender differences in patients diagnosed with non-functioning Pituitary Adenomas (NFPA) in a National Referral Center for Pituitary Tumors at the Federico II University of Naples, Italy. METHODS: Patients newly diagnosed with non-functioning sellar masses found on pituitary Magnetic Resonance Imaging from January 1st 2016 to December 31th 2018 underwent anthropometric measurements, basal evaluation of pituitary function, and metabolic assessment. Fatty live index (FLI) and visceral adiposity index (VAI) were calculated. RESULTS: Seventy-three patients (35 males, 51.1 ± 17.0 years; 38 females, 41.8 ± 18.1 years) presented with NFPA. Lesions > 1 cm (85.7% vs. 47.3%; χ2 = 10.26, p = 0.001) and hypopituitarism (77.1% vs. 7.9%; χ2 = 33.29, p = 0.001) were more frequent in males than females. The highest sizes of pituitary adenomas were significantly associated with male gender (OR = 1.05, p = 0.049; R2 = 0.060; IC 1.00-1.10). Headache (62.8% vs. 31.6%; χ2 = 5.96, p = 0.015) and visual field deficits (57.1% vs. 26.3%; χ2 = 5.93, p = 0.015) were significantly more frequent in males than in females. There was no sex difference in obesity prevalence, but the metabolic syndrome was more common among males than females (60.6% vs. 26.3%; χ2 = 7.14, p = 0.001). FLI was also higher in males (69.6 ± 27.3 vs. 49.2 ± 31.3; p < 0.001), while there were no differences in VAI. CONCLUSIONS: Apart from the possible delay in the diagnosis induced by the gender differences in symptom presentation, the higher prevalence of macroadenomas amongst NFPA in males compared with females let to hypothesize a key role of the sex hormone profile as predictive factors of their biological behavior and metabolic profile. Further studies are, however, mandatory to better support the influence of gender differences on onset, progression, and metabolic consequences of NFPA.
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Adenoma , Gordura Intra-Abdominal , Síndrome Metabólica , Obesidade , Neoplasias Hipofisárias , Adenoma/epidemiologia , Adenoma/metabolismo , Adenoma/patologia , Adenoma/fisiopatologia , Idoso , Doenças Assintomáticas/epidemiologia , Feminino , Hormônios Esteroides Gonadais/análise , Humanos , Itália/epidemiologia , Imageamento por Ressonância Magnética/métodos , Masculino , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Obesidade/diagnóstico , Obesidade/epidemiologia , Hipófise/diagnóstico por imagem , Hipófise/patologia , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/metabolismo , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/fisiopatologia , Fatores Sexuais , Avaliação de Sintomas/métodos , Avaliação de Sintomas/estatística & dados numéricos , Centros de Atenção Terciária/estatística & dados numéricos , Carga TumoralRESUMO
PURPOSE: Idiopathic sudden sensorineural hearing loss (ISSHL) is a hearing impairment greater than 30 dB at three consecutive frequencies developing in less than 3 days. The aim of this study was to evaluate VEMPs and caloric testing in patients affected by ISSHL without vertigo. METHODS: We retrospectively evaluated 35 subjects affected by ISSHL. The audio-vestibular investigation consisted of pure-tone and speech audiometry, impedance, bithermal caloric testing, oVEMPs and cVEMPs. RESULTS: VEMPS were abnormal in 21 patients (60%): cVEMPs in 12 (34.2%) and oVEMPs in 19 (54.2%). 10 patients (28.5%) presented with both c-and oVEMPs altered. Subjects without vestibular involvement showed a significant lower PTA in the affected ear both at admission and at discharge. Recovery rate was significantly higher in group without vestibular involvement. CONCLUSION: The evaluation of the vestibular system can be useful for predicting the auditory recovery in patients without vertigo also.
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Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Súbita/fisiopatologia , Doenças Vestibulares/fisiopatologia , Potenciais Evocados Miogênicos Vestibulares , Adulto , Idoso , Técnicas de Diagnóstico Otológico , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Súbita/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Recuperação de Função Fisiológica , Estudos Retrospectivos , Vertigem/diagnóstico , Vertigem/fisiopatologia , Doenças Vestibulares/diagnóstico , Potenciais Evocados Miogênicos Vestibulares/fisiologiaRESUMO
Central sleep apnoea (CSA) is a lack of drive to breathe during sleep, which can occur in physiologic as well as in pathologic conditions. A particular type of CSA, defined treatment-emergent CSA (TECSA), may occur after the treatment of obstructive sleep apnoea syndrome (OSAS), either with CPAP or surgery. TECSA is transitory and seems to be related to the severity of OSAS. We describe a 51-year-old man affected by severe OSAS who developed severe, transient CSA immediately after upper airways surgery. We believe that CSA was triggered by the sudden variation in nocturnal arterial PCO2, which decreased from 52.3 mmHg before surgery to 42.0 mmHg after surgery. It is conceivable that, due to long-lasting severe OSAS, our patient lowered his chemosensitivity to PCO2. Consequently, the resolution of obstructive apnoeas and the restoration of normal nocturnal values of PCO2 may have reduced the nocturnal PCO2 to the point of being inadequate to stimulate ventilation.
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Complicações Pós-Operatórias/diagnóstico , Apneia do Sono Tipo Central/diagnóstico , Apneia Obstrutiva do Sono/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Fatores de TempoRESUMO
SUMMARY: Drug-induced sleep endoscopy (DISE) is an important procedure in diagnostic pathway of patients affected by moderate OSAS. However, the Italian National Health System does not provide any compatible Diagnosis-related-group (DRG) code codification for DISE, which makes it impossible to obtain regional reimbursement. In order to overcome this problem, DISE is usually associated with other codified surgical procedures. The aim of our study is to assess the association of turbinate decongestion (TD) and DISE in order to combine in a single operating session diagnostic and therapeutic procedures. The objective of our work is to assess the role of nasal surgery on symptoms of moderate OSA. Recent studies have confirmed that isolated nasal surgery improves quality of life (QOL), but not the apnoea hypopnoea index (AHI) during polygraph registration. We enrolled 30 patients, aged between 29 and 64 years (mean 50.53 ± 9.20), 26 males and 4 females, with a mean BMI of 26.07 ± 2.81 kg/m2, who were affected by moderate OSAS. All patients underwent otolaryngologycal pre-operative evaluation, home respiratory polygraph and subjective evaluation through Sino-Nasal-Outcome Test (SNOT-20) and Epworth Sleepiness Scale (ESS). During the same surgery session, they underwent DISE and TD. Patients were re-evaluated six months later using the same questionnaires. We observed a significant improvement (p #x003C; 0.05) in both the mean ESS index (6.03 ± 2.75 vs 4.16 ± 4.63) and total SNOT score (22.53 ± 12.16 vs 13.23 ± 10.82). Significant differences (p #x003C; 0.05) were also identified for partial SNOT questions 1-11 (9.1 ± 5.11 vs 6.13 ± 4.12) and 11-20 (13.36 ± 10.20 vs 7.13 ± 9.644). The results of the present study confirm that TD alone can improve sleepiness, QOL and nasal symptoms. Thus, in absence of a National Health System recognition for DISE, the association of this procedure with TD can be useful for diagnostic and therapeutic management of OSAS, improving CPAP compliance and adherence, reducing sleepiness, ameliorating nasal symptoms and therefore QOL.
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Qualidade de Vida , Apneia Obstrutiva do Sono/cirurgia , Conchas Nasais/cirurgia , Adulto , Pressão Positiva Contínua nas Vias Aéreas , Autoavaliação Diagnóstica , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Nasais/métodos , Cooperação do Paciente , Estudos Prospectivos , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/terapia , Resultado do TratamentoRESUMO
SUMMARY: The aim of this study was to assess if a correlation exists between language learning skills and musical aptitude through the analysis of scholarly outcomes concerning the study of foreign languages and music. We enrolled 502 students from a secondary Italian school (10-14 years old), attending both traditional courses (2 hours/week of music classes scheduled) and special courses (six hours). For statistical analysis, we considered grades in English, French and Music. Our results showed a significant correlation between grades in the two foreign languages and in music, both in the traditional courses and in special courses, and better results in French than for special courses. These results are discussed and interpreted through the literature about neuroanatomical and physiological mechanisms of foreign language learning and music perception.
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Aptidão , Idioma , Aprendizagem , Música , Estudantes/psicologia , Adolescente , Criança , Correlação de Dados , Estudos Epidemiológicos , Humanos , Itália , Estudos RetrospectivosRESUMO
Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora. The most common aim of proteomic analysis is to discriminate between physiological and pathological conditions. A proteomic protocol to analyze the whole saliva proteome is not currently available. It is possible distinguish two type of proteomic platforms: top-down proteomics investigates intact naturally-occurring structure of a protein under examination; bottom-up proteomics analyses peptide fragments after pre-digestion (typically with trypsin). Because of this heterogeneity, many different biomarkers may be proposed for the same pathology. The salivary proteome has been characterised in several diseases: oral squamous cell carcinoma and oral leukoplakia, chronic graft-versus-host disease Sjögren's syndrome and other autoimmune disorders such as SAPHO, schizophrenia and bipolar disorder, and genetic diseases like Down's Syndrome and Wilson disease. The results of research reported herein suggest that in the near future human saliva will be a relevant diagnostic fluid for clinical diagnosis and prognosis.
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Proteômica , Saliva/química , Biomarcadores/análise , Técnicas de Laboratório Clínico , Testes Diagnósticos de Rotina , HumanosRESUMO
BACKGROUND: The pathogenesis of otitis media is related to Eustachian tube dysfunction. The tensor veli palatini muscle actively opens the Eustachian tube and promotes middle-ear ventilation. This study describes a technique for paratubal electromyography that uses a surface, non-invasive electrode able to record tensor veli palatini muscle activity during swallowing. METHODS: Twenty otitis media patients and 10 healthy patients underwent tensor veli palatini electromyography. Activity of this muscle before and after Eustachian tube rehabilitation was also assessed. RESULTS: In 78.5 per cent of patients, the electromyography duration phase and/or amplitude were reduced in the affected side. The muscle action potential was impaired in all patients who underwent Eustachian tube rehabilitation. CONCLUSION: This study confirmed that Eustachian tube muscle dysfunction has a role in otitis media pathogenesis and showed that muscle activity increases after Eustachian tube rehabilitation therapy.
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Eletromiografia/métodos , Tuba Auditiva/fisiopatologia , Otite Média/reabilitação , Adulto , Estudos de Casos e Controles , Deglutição/fisiologia , Eletrodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ventilação da Orelha Média/reabilitação , Monitorização Fisiológica/métodos , Otite Média/fisiopatologia , Tensor de Tímpano/fisiopatologiaRESUMO
Oro-pharyngeal dysphagia is frequently present during the acute phase of stroke. The aim of the present study was to evaluate whether the recording of surface EMG using a nasopharyngeal (NP) electrode could be applied to evaluation of pharyngeal muscle activity in acute stroke patients and if this neurophysiological measure is related with clinical assessment of swallowing. Patients were examined and clinical severity was assessed with the National Institute of Health Stroke Scale (NIHSS) score; dysphagia was evaluated through bedside screening test using the Gugging Swallowing Scale (GUSS). Extension of the ischaemic lesion was measured by quantitative score, based on CT scan [Alberta Stroke Programme Early CT Score (ASPECTS)]. We analysed 70 patients; 50 were classified as dysphagic (Dys+), and 20 as non-dysphagic (Dys-). Each participant underwent a surface NP EMG recording performed with a NP electrode, made of a Teflon isolated steel catheter, with a length of 16 cm and a tip diameter of 1.5 mm. The electrode was inserted through the nasal cavity, rotated and positioned approximately 3 mm anteroinferior to the salpingo-palatine fold. At least four consecutive swallowing-induced EMG bursts were recorded and analysed for each participant. Swallowing always induced a repetitive, polyphasic burst of activation of the EMG, lasting around 0.25 to 1 sec, with an amplitude of around 100-600mV. Two parameters of the EMG potentials recorded with the NP electrode were analyzed: duration and amplitude. The duration of the EMG burst was increased in Dys+ patients with a statistically significant difference compared to Dys- patients (p < 0.001). The amplitude was slightly reduced in the Dys+ group, but statistically significant differences were not observed (p = 0,775). Nevertheless, the burst amplitude showed a significant inverse correlation with NIHSS [r(48) = -0.31; p < 0.05] and ASPECTS scores [r(48) = -0.27; p < 0.05], meaning that the burst amplitude progressively reduced with an increase of clinical severity (NIHSS) and topographic extension of brain lesions in CT (ASPECTS). These results suggest that NP recordings can give a semi-quantitative measure of swallowing difficulties originating from pharyngeal dysfunction, in fact, electromyographic findings suggest reduced pharyngeal motility.
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Transtornos de Deglutição/fisiopatologia , Eletromiografia , Músculos Faríngeos/fisiopatologia , Idoso , Isquemia Encefálica/complicações , Transtornos de Deglutição/etiologia , Eletromiografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nariz , Faringe , Estudos Prospectivos , Acidente Vascular Cerebral/complicaçõesRESUMO
BACKGROUND AND AIMS: Prader-Willi syndrome (PWS) is characterized by a high incidence of altered glucose metabolism (AGM). However, epidemiological data on impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (T2DM) are still discordant. METHODS AND RESULTS: We performed a multicenter study based on 274 PWS patients [144 females, aged 20.3 ± 10.4 yrs (range: 8.1-50.1 years)] evaluating the prevalence for AGM in the entire group, and according to age (children <10 yrs; adolescents 10-18 yrs, and adults >18 yrs), Body Mass Index (BMI = kg/m(2)), gender, genotypes (deletion or uniparental disomy for chromosome 15), and GH therapy (GHT) (untreated, previously or currently treated). Altogether, AGM was detected in 67 (24.4%) of patients (0.7% IFG, 10.2% IGT, 13.5% T2DM). The prevalence of AGM was correlated to age (p = 0.001), BMI (p = 0.001) and HOMA-IR (p = 0.001). However, gender, genotype, and GHT did not influence AGM development in univariate analysis. These data were confirmed as positive predictors when inserted in a multivariate analysis model. CONCLUSION: This study is the first report on the prevalence of AGM in a large population of PWS. Overall, PWS subjects show a high prevalence of AGM that appears more common in obese and adult subjects. Our data confirm the main role of obesity on the individual metabolic risk clustering in PWS, and thus reinforce the concept that improvement in weight control remains the most important goal of any PWS treatment program.
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Glicemia/metabolismo , Transtornos do Metabolismo de Glucose/epidemiologia , Síndrome de Prader-Willi/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Criança , Feminino , Transtornos do Metabolismo de Glucose/sangue , Transtornos do Metabolismo de Glucose/diagnóstico , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Resistência à Insulina , Itália/epidemiologia , Modelos Lineares , Masculino , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Análise Multivariada , Obesidade/epidemiologia , Síndrome de Prader-Willi/sangue , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/tratamento farmacológico , Prevalência , Estudos Retrospectivos , Fatores de Risco , Adulto JovemRESUMO
The use of a mandibular advancement device (MAD) increases the activity of the temporo-mandibular (TM) complex and masseter (MM) muscles with the risk of reducing treatment compliance. Predictors of treatment outcome are of importance in selecting patients who might benefit from MAD without side effects. The role of mandibular advancement (MA) during drug-induced sleep endoscopy (DISE) is controversial. In three cases (BMI < 30) affected by non-severe OSAS (AHI < 30 e/h), we recorded the surface EMG signal of MM activity during DISE. At follow-up all cases improved the AHI, two cases that showed transient increase of MM activity did not suffer from changes of overjet and did not complain of discomfort with the use of MAD. The case that showed a continuing increase of MM activity reported TM discomfort without changes of dental occlusion. EMG of MM during DISE may contribute to ameliorate the selection of cases amenable to treatment with MAD.
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Eletromiografia , Endoscopia , Avanço Mandibular/instrumentação , Músculo Masseter/fisiologia , Apneia Obstrutiva do Sono/terapia , Adulto , Previsões , Humanos , Masculino , Sono/efeitos dos fármacos , Resultado do TratamentoRESUMO
Interventional sialendoscopy has become the predominant therapeutic procedure for the management of obstructive salivary disorders, but only a few multicentre studies of large series of patients with a long-term follow-up have been published. This Italian multicentre study involved 1152 patients (553 females; mean age 50 years) who, after at least a clinical and ultrasonographic evaluation, underwent a total of 1342 diagnostic and interventional sialendoscopies, 44.6% of which involved the parotid gland. 12% (n = 138) of patients underwent multiple treatments. The procedure was successful in 1309 cases. In 33 cases (2.4%) the procedure could not be concluded mainly because of complete duct stenosis (21 cases). Salivary stones were the main cause of obstruction (55%), followed by ductal stenosis and anomalies (16%), mucous plugs (14.5%) and sialodochitis (4.7%). Complete therapeutic success was obtained in 92.5% of patients after one or more procedures, and was ineffective in < 8%. Untoward effects (peri and postoperative complications) were observed in 5.4% of cases. Sialendoscopy proved to be an effective, valid and safe procedure in the diagnostic and therapeutic management of non-neoplastic obstructive salivary gland diseases.
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Endoscopia , Cálculos dos Ductos Salivares/cirurgia , Sialadenite/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Bone impairment and malnutrition are associated with significant disability and mortality. PERSSILAA is an European project developing health services to detect and prevent frailty in older adults by addressing cognitive, physical and nutritional. METHODS: Subjects underwent anthropometric measurements, calcaneal quantitative ultrasound (QUS) scan and PREDIMED (PREvención con DIeta MEDiterránea) questionnaire. AIM: To investigate the association between adherence to the Mediterranean Diet (MD) and bone health. RESULTS: 87 subjects (4 males and 83 females) 70.1±4.9 aged, were examined. Mean Body Mass Index (BMI) was 28.7±4.7(kg/m(2)): in particular 28 subjects (32.2%) resulted obese, 42 (48.3%) overweight, and only 17 (19.5%) with normal weight. Mean T score was -1.2±1.2: in particular 13 subjects (14.9%) resulted osteoporotic; 43 (49.5%) osteopenic; and 31 (35.6%) with normal bone mineral density. Regarding adherence to MD, 9 subjects (10.3%) were poorly adherent; 41 (47.2%) average adherent; 37 (42.5%) highly adherent. T-score was associated with PREDIMED score and osteoporotic subjects presented the lowest PREDIMED score (5.8±2.2). CONCLUSIONS: These preliminary data show a significant correlation between the adherence to the MD and bone health parameters. The association between MD and bone health highlights the potential beneficial effects of nutritional interventions promoting a Mediterranean food pattern, as safe adjuvant treatment in ageing.
RESUMO
Nowadays oral appliance therapy is recognised as an effective therapy for many patients with primary snoring and mild to moderate obstructive sleep apnoea (OSA), as well as those with more severe OSA who cannot tolerate positive airway pressure (PAP) therapies. For this reason, it is important to focus on objective criteria to indicate which subjects may benefit from treatment with a mandibular advancement device (MAD). Various anthropometric and polysomnographic predictors have been described in the literature, whereas there are still controversies about the role of drug-induced sleep endoscopy (DISE) and advancement bimanual manoeuvre as predictor factors of treatment outcome by oral device. Herein, we report our experience in treatment of mild moderate OSA by oral appliance selected by DISE. We performed a single institution, longitudinal prospective evaluation of a consecutive group of mild moderate patients with obstructive sleep apnoea syndrome who underwent DISE. During sleep endoscopy, gentle manoeuvre of mandibular advancement less than 5 mm was performed. In 30 of 65 patients (46.2%) we obtained an unsuccessful improvement of airway patency whereas in 35 of 65 patients (53.8%) the improvement was successful and patients were considered suitable for oral device application. Because 7 of 35 patients were excluded due to conditions interfering with oral appliance therapy, we finally treated 28 patients. After 3 months of treatment, we observed a significant improvement in the Epworth medium index [(7.35 ± 2.8 versus 4.1 ± 2.2 (p < 0.05)], in mean AHI [(21.4 ± 6 events per hour versus 8.85 ± 6.9 (p < 0.05)] and in mean ODI [(18.6 ± 8 events per hour to 7 ± 5.8 (p < 0.05)]. We observed that the apnoea/hypopnoea index (AHI) improved by up to 50% from baseline in 71.4% of patients selected after DISE for MAD therapy. In the current study, mandibular advancement splint therapy was successfully prescribed on the basis not only of severity of disease, as determined by the subject's initial AHI, but also by DISE findings combined with results of gentle mandibular advancement manoeuvre allowing direct view of the effects of mandibular protrusion on breathing spaces in obstruction sites, and showing good optimisation of selection of patients for oral device treatment.
Assuntos
Endoscopia , Avanço Mandibular , Apneia Obstrutiva do Sono/terapia , Humanos , Polissonografia , Estudos Prospectivos , Ronco/terapia , Resultado do TratamentoRESUMO
In past years, external dacryocystorhinostomy has been considered the gold standard in terms of functional outcome for treatment for nasolacrimal duct obstruction. In comparison, interest in the use of the recently developed endonasal dacyocystorhinostomy procedure has been rekindled because of advances in instrumentation. For the past 10 years, differences in the outcomes between the two techniques have been reduced; thus, currently, the choice of the type of surgery is associated with the experience of the surgeon, resources available in the healthcare system and patient preferences.
Assuntos
Dacriocistorinostomia/métodos , Endoscopia , Humanos , NarizRESUMO
The aim of this study was to verify if hyoid myotomy without hyoid suspension is effective in surgical treatment of obstructive sleep apnoea syndrome (OSAS). We recruited six patients with OSAS, aged between 34 to 60 years, with retropalatal and retrolingual upper airway obstruction, non-obese (BMI < 27) and non-compliant to continuous positive airway pressure therapy. Pre-surgical clinical and instrumental evaluations included clinical examination, cephalometry, polysomnography (PSG) and sleep endoscopy. Surgical treatment included nasal surgery, uvulopalatopharyngoplasty, tonsillectomy and hyoid myotomy without hyoid suspension. Follow-up evaluations were performed with serial PSGs, performed early (one week after surgery), and at 1, 6 and 18 months after surgery. We observed that surgery was followed by immediate normalisation of breathing parameters evaluated by PSG that persisted after 18 months. Thus, hyoid myotomy without suspension combined with nasal and palatal surgery may be considered a valid treatment of non-obese OSAS patients with retrolingual and retropalatal collapse. Furthermore, we suggest that hyoid bone suspension, binding it to mandibular or to thyroid cartilage, might be unnecessary in selected cases.