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1.
Ann Ig ; 34(4): 415-420, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34882165

RESUMO

Background: Invasive Meningococcal Disease is a severe disease mainly affecting infants and young children. Most infections are caused by serogroups A, B, C, W, X, and Y. In the last 10 years, serogroup B has been the main cause of Invasive Meningococcal Disease in Europe. Recent data resulting from an observational study conducted in Italy show a significant reduction in the number of Invasive Meningococcal Disease cases due to Neisseria meningitidis B after the introduction of vaccine 4CMenB. Thus, the Naples Team of Federation of Italian Primary Care Pediatricians and the Public Health Department started an active collaboration focused on vaccination process management (named "Progetto Via") with the aim of increasing Meningococcal B vaccination coverage. Study design: Source of data is the regional platform "GE.VA.". Every Primary care Pediatrician uses daily to record vaccination activity. This platform is integrated with data entered by operators of the District/Vaccination Center. Methods: Time: January 2019 - December 2019. The Federation of Italian Primary Care Pediatricians/Naples organized a meeting to identify six coordinators. The pediatricians could choose to counsel in their own offices and send children to the vaccination center or to counsel and vaccinate directly in their own clinics. Results: A total of 78 pediatricians took part in the project: 46 did only counseling and 32 did both counseling and vaccination in their medical clinic. Data obtained show an overall average vaccination coverage growth of about 13% in the first 4 months of the survey, and a further growth of about 11% in the following seven months, with a total growth in the entire period of 24%. The pediatricians' counseling is essential to recover non-compliant subjects, considering both the relationship of trust with the families and the visits already scheduled as an ideal moment for vaccinations' status check. Conclusions: The project highlights how an effective collaboration between family pediatricians and the Local Health Authority becomes valuable in getting closer to reach the Ministerial goal of 95%. Vaccination coverage increased significantly when family pediatricians supported the activity of vaccine centers in distress in many regional situations. The trust relationship, the hourly availability and the capillary network of family pediatricians' clinics were key elements for the success of this project and were also recognized by parents.


Assuntos
Infecções Meningocócicas , Vacinas Meningocócicas , Criança , Pré-Escolar , Humanos , Lactente , Itália , Infecções Meningocócicas/prevenção & controle , Pediatras , Saúde Pública , Vacinação , Cobertura Vacinal
2.
Acta Psychiatr Scand ; 138(1): 62-72, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29536533

RESUMO

OBJECTIVE: Although cognitive dysfunction persists through affective and euthymic states in bipolar disorder (BD), its neurobiological correlates remain undetermined. We explore whole-cortex intracortical myelin (ICM) and cognition in BD-I and controls. METHODS: T1 -weighted images (3T) optimized for ICM measurement were analyzed using a surface-based approach. MRI signal was sampled at cortical mid-depth. Cognitive performance was measured via standardized computerized battery and paper-and-pencil Trails B. RESULTS: ICM was associated with verbal memory (VM) in BD throughout a cortical network identified with pertinence to VM function, with strongest effects in left caudal middle temporal cortex and left dorsolateral prefrontal cortex (Pcorrected  < 0.05). Subanalyses revealed specific association with correct word recognition, without delay. Processing speed, executive function, and reaction time were also predicted by ICM in BD, but not controls, although this did not survive Bonferroni correction. CONCLUSION: This is the first study to show VM association with ICM in BD. ICM has been implicated in the integrity of neural connections and neural synchrony. VM dysfunction is one of the most replicated cognitive abnormalities in BD. Therefore, these results provide a novel mechanism for understanding cognitive dysfunction in BD, which can aid in the development of targeted therapeutics to improve cognitive outcomes in BD.


Assuntos
Transtorno Bipolar/fisiopatologia , Córtex Cerebral/metabolismo , Disfunção Cognitiva/fisiopatologia , Bainha de Mielina/metabolismo , Adolescente , Adulto , Transtorno Bipolar/complicações , Disfunção Cognitiva/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
3.
Climacteric ; 20(4): 374-378, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28453307

RESUMO

OBJECTIVES: The dynamic nature of the skeleton is achieved by a remodeling process. Receptor activator of nuclear factor kappa B (RANK) ligand (RANKL) stimulates bone resorption by activating RANK signaling. Therefore it is considered as a candidate gene regulating susceptibility to osteoporosis. In the current study, we have investigated the association between the RANKL gene -693G > C and -643 C > T polymorphisms and bone mineral density (BMD) in a population of postmenopausal Tunisian women. METHODS: Polymorphic sites in RANKL gene (rs9533155 -693G > C and rs9533156 -643 C > T polymorphisms) were determined using PCR-RFLP analysis in 566 postmenopausal Tunisian women. All statistical analysis were examined by SPSS software. RESULTS: We have detected a significant difference in lumbar spine and hip BMD for -643C > T genotypes. For -693G > C genotypes, a significant difference was detected only in hip BMD. The distribution of -643C > T genotypes and alleles between three groups (osteoporotic, osteopenic and normal women) revealed a significant association of the TT genotype with development of osteoporosis (p = 0.01; odds ratio 2.15), although for the -693G > C polymorphism, no significant results were found. CONCLUSION: We have demonstrated the association of the -643C > T polymorphism with BMD variation and osteoporosis risk in postmenopausal Tunisian women.


Assuntos
Osteoporose Pós-Menopausa/genética , Pós-Menopausa/genética , Ligante RANK/genética , Idoso , Densidade Óssea/genética , Feminino , Frequência do Gene , Genótipo , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética , Polimorfismo de Nucleotídeo Único/genética , Tunísia
4.
Acta Psychiatr Scand ; 133(2): 102-108, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26010130

RESUMO

OBJECTIVE: We examined the relationship between biological rhythms and severity of depressive symptoms in subjects with bipolar disorder and the effects of biological rhythms alterations on functional impairment. METHOD: Bipolar patients (n = 260) and healthy controls (n = 191) were recruited from mood disorders programs in three sites (Spain, Brazil, and Canada). Parameters of biological rhythms were measured using the Biological Rhythms Assessment in Neuropsychiatry (BRIAN), an interviewer administered questionnaire that assesses disruptions in sleep, eating patterns, social rhythms, and general activity. RESULTS: Multivariate analyses of covariance showed significant intergroup differences after controlling for potential confounders (Pillai's F = 49.367; df = 2, P < 0.001). Depressed patients had the greatest biological rhythms disturbance, followed by patients with subsyndromal symptoms, euthymic patients, and healthy controls. Biological rhythms and HAMD scores were independent predictors of poor functioning (F = 12.841, df = 6, P < 0.001, R2  = 0.443). CONCLUSION: Our study shows a dose-dependent association between the severity of depressive symptoms and degree of biological rhythms disturbance. Biological rhythms disturbance was also an independent predictor of functional impairment. Although the directionality of this relationship remains unknown, our results suggest that stability of biological rhythms should be an important target of acute and long-term management of bipolar disorder and may aid in the improvement of functioning.

5.
BJOG ; 123(12): 1947-1954, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26395895

RESUMO

OBJECTIVE: Phase rectified signal averaging (PRSA) is a new method of fetal heart rate variability (fHRV) analysis that quantifies the average acceleration (AC) and deceleration capacity (DC) of the heart. The aim of this study was to evaluate AC and DC of fHR [recorded by trans-abdominal fetal electrocardiogram (ta-fECG)] in relation to Doppler velocimetry characteristics of intrauterine growth restriction (IUGR). DESIGN: Prospective case-control study. SETTING: Single third referral centre. POPULATION: IUGR (n = 66) between 25 and 40 gestational weeks and uncomplicated pregnancies (n = 79). METHODS: In IUGR the nearest ta-fECG monitoring to delivery was used for PRSA analysis and Doppler velocimetry parameters obtained within 48 hours. AC and DC were computed at s = T = 9. The relation was evaluated between either AC or DC and Doppler velocimetry parameters adjusting for gestational age at monitoring, as well as the association between either AC or DC and IUGR with or without brain sparing. RESULTS: In IUGRs there was a significant association between either AC and DC and middle cerebral artery pulsatility index (PI; P = 0.01; P = 0.005), but the same was not true for uterine or umbilical artery PI (P > 0.05). Both IUGR fetuses with and without brain sparing had lower AC and DC than controls, but this association was stronger for IUGRs with brain sparing. CONCLUSIONS: Our study observed for the first time that AC and DC at PRSA analysis are associated with middle cerebral artery PI, but not with uterine or umbilical artery PI, and that there is a significant decrease of AC and DC in association with brain sparing in IUGR fetuses from 25 weeks of gestation to term. TWEETABLE ABSTRACT: Brain sparing in IUGR fetuses is associated with decreased acceleration and deceleration capacities of the heart.


Assuntos
Aceleração , Encéfalo/fisiopatologia , Desaceleração , Retardo do Crescimento Fetal/fisiopatologia , Monitorização Fetal , Frequência Cardíaca Fetal , Artéria Cerebral Média/fisiopatologia , Adulto , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Eletrocardiografia/métodos , Feminino , Monitorização Fetal/métodos , Idade Gestacional , Hospitais Universitários , Humanos , Recém-Nascido , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Estudos Prospectivos , Processamento de Sinais Assistido por Computador , Ultrassonografia Pré-Natal/métodos
6.
Biol Sport ; 33(4): 367-372, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28090141

RESUMO

The Special Judo Fitness Test (SJFT) has become the test most widely used by coaches and physical trainers for assessment of competitors' judo-specific physical aptitude and training programme prescription. The aim of this study was to investigate the relationship between the SJFT performance indices and both maximal aerobic power and the level of blood lactate concentrations in female judo athletes. Seventeen female judokas (age: 21.9±1.6 years, body mass: 74.6±27.4 kg, height: 164.5±8.6 cm; BMI: 27.1±8.0 kg · m-2) took part in this study. All participants performed the SJFT, 20 m multi-stage shuttle run test (MSRT), and 30 m straight sprint test (SST), from which we calculated both acceleration (10 m) and the maximal anaerobic speed (MAnS: flying 20 m sprint). A blood sample was taken 3 min after the SJFT. The number of throws was significantly correlated with estimated VO2max (r=0.795, p=0.0001) and both acceleration (r=0.63, p =0.006) and MAnS (r=0.76, p=0.0004). Peak blood lactate recorded after the SJFT was 13.90±1.39 mmol · l-1. No significant correlation was found between blood lactate concentration and the SJFT performance indices. The lack of significant correlation between blood lactate and SJFT performance suggests that lactic anaerobic metabolism has no effect on this type of judo-specific supra-maximal exercise. The observed results can provide coaches and strength and conditioning professionals with relevant information for the interpretation of SJFT performance and the prescription of specific training programmes for female judo athletes.

7.
Biol Sport ; 33(2): 165-72, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27274110

RESUMO

The purposes of this study were to examine the effect of between-set recovery duration on physiological responses (heart rate and blood lactate), rating of perceived exertion (RPE) and performance indices of repeated sprint sets (RSS) and to investigate their relationship with aerobic power. Twenty-four young male soccer players (age: 17.4 ± 0.32 years) performed three randomized RSS protocols consisting of 2 sets of 5x20 m with 15 s recovery between sprints and 1 min (RSS1), 2 min (RSS2) and 4 min (RSS4) between sets, and a multi-stage aerobic track test to estimate VO2max. Results showed that in contrast to RSS2 and RSS4, RSS1 leads to a large decline in performance expressed as the sum of sprint times (34.0±1.0 s, 34.0±1.1s and 34.6±1.1s, respectively) and a significant increase of both mean heart rate (124.0±9.7 bpm, 112.5±6.7 bpm and 137.3±12.4, respectively) and RPE (3.2±1.5, 3.4±1.2 and 6.3±1.4, respectively) with no change in blood lactate and peak HR between the three rest conditions. No significant correlations were obtained between estimated VO2max and any of the indices of the three RSS protocols. In conclusion, 1 min of recovery between sets is sufficient to ensure a significant decrease in performance in the second set, while 2 min and 4 min of recovery were long enough to provide maintenance of high intensity work in the second set. These findings would be useful for coaches and sport scientists when attempting to assess repeated sprint abilities, allowing coaches to accurately define the intended training goals in young soccer players.

8.
Lupus ; 24(11): 1191-7, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25926056

RESUMO

OBJECTIVES: To evaluate the expression of Th1, Th2, and Th17 cytokines in patients with systemic lupus erythematosus (SLE), and verify the association between serum cytokine levels and vitamin D concentration. METHODS: The sample consisted of 172 patients with SLE. 25-Hydroxyvitamin D (25(OH)D) levels were measured by chemiluminescence and 25(OH)D levels <20 ng/mL were considered to reflect vitamin D deficiency. Serum cytokine levels were measured in once-thawed samples, using a Th1/Th2/Th17 CBA (cytometric beads array) kit. RESULTS: One hundred and sixty-one (93.6%) patients were women and 128 (74.4%) were of European descent. Mean patient age was 40.5 ± 13.8 years, and mean age at diagnosis was 31.5 ± 13.4 years. At the time of study entry, patients had a median (IQR) SLEDAI of 2 (1-4) and SLICC of 0 (0-1). Mean 25(OH)D concentration was 25.4 ± 11.04 ng/mL. Fifty-nine (34.3%) patients had a vitamin D deficiency. No statistically significant associations were identified between cytokine and vitamin D levels. The most significant finding was a positive correlation between INF-α levels and SLEDAI (r(s) = 0.22, p = 0.04). CONCLUSION: Although vitamin D deficiencies are highly prevalent in patients with SLE, vitamin D levels were not significantly associated with patient cytokine profiles. The positive correlation between IFN-α levels and SLEDAI showed in this study corroborates other findings in the literature. The present results did not replicate those of in vitro studies of the effect of vitamin D levels on cytokine profiles. Placebo-controlled intervention trials of the effect of vitamin D on cytokine profiles are still required before any definitive conclusions can be drawn regarding the association between these variables.


Assuntos
Citocinas/sangue , Lúpus Eritematoso Sistêmico/sangue , Deficiência de Vitamina D/sangue , Vitamina D/análogos & derivados , Adulto , Estudos Transversais , Citocinas/metabolismo , Feminino , Citometria de Fluxo/métodos , Humanos , Interferon-alfa/sangue , Lúpus Eritematoso Sistêmico/metabolismo , Masculino , Pessoa de Meia-Idade , Prevalência , Índice de Gravidade de Doença , Células Th1/imunologia , Células Th17/imunologia , Células Th2/imunologia , Vitamina D/sangue , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/metabolismo
9.
Climacteric ; 18(4): 624-30, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25603555

RESUMO

OBJECTIVES: Osteopenia is characterized by intermediate values of bone mineral density (BMD) as compared to normal and osteoporotic subjects. BMD, a surrogate phenotype for osteoporosis, is influenced in part by genetic factors. Among the genes associated with BMD, the vitamin D receptor (VDR) was the first gene studied as a potential candidate associated with BMD in adult and postmenopausal bone loss. However, results are controversial. METHODS: To determine whether VDR polymorphisms ApaI and TaqI are associated with BMD, osteopenia, osteoporosis and low-impact fracture risk in North Africans, these genotypes were analyzed in 566 postmenopausal Tunisian women. RESULTS: In postmenopausal Tunisian women, the GT ApaI genotype seems to be protective against osteoporosis development (p = 0.02; odds ratio = 0.54). Moreover, the presence of the combined GT/TT genotype of ApaI and TaqI polymorphisms is more frequent in normal BMD women than in osteoporotic women (p = 0.00; odds ratio = 0.41). Interestingly, the GG ApaI genotype is associated with osteopenia development (p = 0.02; odds ratio = 1.86) and also the TT TaqI polymorphism (p = 0.02; odds ratio = 1.53). The GG ApaI genotype is associated with a three times risk of vertebral fracture. CONCLUSIONS: The ApaI polymorphism showed an association with osteopenia and low-impact vertebral fracture incidence but not with osteoporosis. The TaqI polymorphism is associated specifically with the osteopenia phenotype. The presence of the two polymorphisms increases the risk to develop osteopenia in postmenopausal Tunisian women. Osteopenia seems to be genetically determined. However, osteoporosis is the result of interaction between genetic and environmental factors.


Assuntos
Doenças Ósseas Metabólicas/genética , Predisposição Genética para Doença , Genótipo , Fenótipo , Polimorfismo de Nucleotídeo Único , Pós-Menopausa/genética , Receptores de Calcitriol/genética , Adulto , Idoso , Doenças Ósseas Metabólicas/epidemiologia , Estudos de Coortes , Feminino , Marcadores Genéticos , Humanos , Incidência , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/epidemiologia , Osteoporose Pós-Menopausa/genética , Fraturas por Osteoporose/epidemiologia , Fraturas por Osteoporose/genética , Tunísia/epidemiologia
10.
Int J Sports Med ; 36(1): 49-53, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25254901

RESUMO

We compared the accuracy of 2 GPS systems with different sampling rates for the determination of distances covered at high-speed and metabolic power derived from a combination of running speed and acceleration. 8 participants performed 56 bouts of shuttle intermittent running wearing 2 portable GPS devices (SPI-Pro, GPS-5 Hz and MinimaxX, GPS-10 Hz). The GPS systems were compared with a radar system as a criterion measure. The variables investigated were: total distance (TD), high-speed distance (HSR>4.17 m·s(-1)), very high-speed distance (VHSR>5.56 m·s(-1)), mean power (Pmean), high metabolic power (HMP>20 W·kg(-1)) and very high metabolic power (VHMP>25 W·kg(-1)). GPS-5 Hz had low error for TD (2.8%) and Pmean (4.5%), while the errors for the other variables ranged from moderate to high (7.5-23.2%). GPS-10 Hz demonstrated a low error for TD (1.9%), HSR (4.7%), Pmean (2.4%) and HMP (4.5%), whereas the errors for VHSR (10.5%) and VHMP (6.2%) were moderate. In general, GPS accuracy increased with a higher sampling rate, but decreased with increasing speed of movement. Both systems could be used for calculating TD and Pmean, but they cannot be used interchangeably. Only GPS-10 Hz demonstrated a sufficient level of accuracy for quantifying distance covered at higher speeds or time spent at very high power.


Assuntos
Sistemas de Informação Geográfica , Corrida/fisiologia , Futebol/fisiologia , Estudos de Tempo e Movimento , Aceleração , Adolescente , Metabolismo Energético , Humanos , Masculino , Reprodutibilidade dos Testes
11.
Biol Sport ; 32(3): 207-12, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26424923

RESUMO

The aim of this study was to examine in team sports athletes the relationship between repeated sprint ability (RSA) indices and both aerobic and anaerobic fitness components. Sixteen team-sport players were included (age, 23.4 ± 2.3 years; weight, 71.2 ± 8.3 kg; height, 178 ± 7 cm; body mass index, 22.4 ± 2 kg · m(-2); estimated VO2max, 54.16 ± 3.5 mL · kg(-1) · min(-1)). Subjects were licensed in various team sports: soccer (n = 8), basketball (n = 5), and handball (n = 3). They performed 4 tests: the 20 m multi-stage shuttle run test (MSRT), the 30-s Wingate test (WingT), the Maximal Anaerobic Shuttle Running Test (MASRT), and the RSA test (10 repetitions of 30 m shuttle sprints (15 + 15 m with 180° change of direction) with 30 s passive recovery in between). Pearson's product moment of correlation among the different physical tests was performed. No significant correlations were found between any RSA test indices and WingT. However, negative correlations were found between MASRT and RSA total sprint time (TT) and fatigue index (FI) (r = -0.53, p < 0.05 and r = -0.65, p < 0.01, respectively). No significant relationship between VO2max and RSA peak sprint time (PT) and total sprint time (TT) was found. Nevertheless, VO2max was significantly correlated with the RSA FI (r = -0.57, p < 0.05). In conclusion, aerobic fitness is an important factor influencing the ability to resist fatigue during RSA exercise. Our results highlighted the usefulness of MASRT, in contrast to WingT, as a specific anaerobic testing procedure to identify the anaerobic energy system contribution during RSA.

12.
Int J Sports Med ; 35(4): 310-5, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24081619

RESUMO

The purpose of this study was twofold: first to assess the relative and absolute reliability of a new Maximal Anaerobic Shuttle Running Test (MASRT), and second to evaluate the criterion validity of the MASRT. 16 team sport players participated in this study. The velocity (VMASRT) and the number of shuttles achieved at volitional exhaustion were measured. To assess the reliability of the MASRT, each player performed the MASRT twice, on separate days. The criterion validity of the MASRT was determined by examining the relationship between MASRT indices and the Wingate test (WingT) performances. Results showed no difference between test-retest MASRT scores for VMASRT and the number of shuttles (P>0.05). The intraclass correlation coefficients (ICC) values for VMASRT and Shuttle number were 0.84 and 0.80, respectively. The coefficients of variation (CV) and the mean difference (bias)±the 95% limits of agreement for the same variables were 3.6 and 12.9%, and 0.02±0.37m·s-1 and 0.3±6.7, respectively. The strongest correlation was found between mean power output relative to body mass (MPO) measured during the WingT and VMASRT (r=0.77, P<0.001). The MASRT constitutes a reliable and valid field tool for assessing short term repeated running capacity of team sport players.


Assuntos
Desempenho Atlético/fisiologia , Teste de Esforço/métodos , Consumo de Oxigênio , Corrida/fisiologia , Adulto , Índice de Massa Corporal , Humanos , Masculino , Reprodutibilidade dos Testes , Adulto Jovem
13.
Biol Sport ; 31(2): 151-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24899781

RESUMO

The aim of the present study was to examine the effect of number of sprint repetitions on the variation of blood lactate concentration (blood [La]) during different repeated-sprint sessions in order to find the appropriate number of sprint repetitions that properly simulates the physiological demands of team sport competitions. Twenty male team-sport players (age, 22.2 ± 2.9 years) performed several repeated-sprint sessions (RSS) consisting of 1, 2, 3, 4, 5, 9, or 10 repetitions of 30 m shuttle sprints (2 × 15 m) with 30 s recovery in between. The blood [La] was obtained after 3 min of recovery at the end of each RSS. The present study showed that for RSS of 3 sprints (RSS3) there was a high increase (p<0.001) in blood [La], which reached approximately fivefold resting values (9.4±1.7 mmol · l(-1)) and then remained unchanged for the RSS of 4 and 5 sprints (9.6±1.4 and 10.5±1.9 mmol · l(-1), p=0.96 and 0.26, respectively). After RSS9 and RSS10 blood [La] further significantly increased to 12.6 and 12.7 mmol · l(-1), p<0.001, respectively. No significant difference was found between RSS3, RSS4 and RSS5 for the percentage of sprint speed decrement (Sdec) (1.5±1.2; 2.0±1.1 and 2.6±1.4%, respectively). There was also no significant difference between RSS9 and RSS10 for Sdec (3.9±1.3% and 4.5±1.4%, respectively). In conclusion, the repeated-sprint protocol composed of 5 shuttle sprint repetitions is more representative of the blood lactate demands of the team sports game intensity.

14.
Eur J Med Genet ; 68: 104926, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38369057

RESUMO

Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished growth, along with a plethora of associated secondary features (both skeletal and extraskeletal). The diagnosis of OI is currently made on clinical grounds and may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation of this disease. The aim of this article is to review the current role played by the various radiologic techniques in the diagnosis and monitoring of OI in the postnatal setting as well as to discuss recent advances and future perspectives in OI imaging. Conventional Radiography and Dual-energy X-ray Absorptiometry (DXA) are currently the two most used imaging modalities in OI. The cardinal radiographic features of OI include generalized osteopenia/osteoporosis, bone deformities, and fractures. DXA is currently the most available technique to assess Bone Mineral Density (BMD), specifically areal BMD (aBMD). However, DXA has important limitations and cannot fully characterize bone fragility in OI based on aBMD. Novel DXA-derived parameters, such as Trabecular Bone Score (TBS), may provide further insight into skeletal changes induced by OI, but evidence is still limited. Techniques like Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) can be useful as problem-solvers or in specific settings, including the evaluation of cranio-cervical abnormalities. Recent evidence supports the use of High-Resolution peripheral Quantitative Computed Tomography (HR-pQCT) as a promising tool to improve the characterization of bone fragility in OI. However, HR-pQCT remains a primarily research technique at present. Quantitative Computed Tomography (QCT) is an alternative to DXA for the determination of BMD at central sites, with distinct advantages but considerably higher radiation exposure. Quantitative Ultrasound (QUS) is a portable, inexpensive, and radiation-free modality that may complement DXA evaluation, providing information on bone quality. However, evidence of usefulness of QUS in OI is poor. Radiofrequency Echographic Multi Spectrometry (REMS) is an emerging non-ionizing imaging method that holds promise for the diagnosis of low BMD and for the prediction of fracture risk, but so far only one published study has investigated its role in OI. To conclude, several different radiologic techniques have proven to be effective in the diagnosis and monitoring of OI, each with their own specificities and peculiarities. Clinicians should be aware of the strategic role of the various modalities in the different phases of the patient care process. In this scenario, the development of international guidelines including recommendations on the role of imaging in the diagnosis and monitoring of OI, accompanied by continuous active research in the field, could significantly improve the standardization of patient care.


Assuntos
Fraturas Ósseas , Osteogênese Imperfeita , Osteoporose , Humanos , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/patologia , Densidade Óssea , Absorciometria de Fóton/métodos , Fraturas Ósseas/diagnóstico por imagem
15.
Sci Total Environ ; 866: 161345, 2023 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-36603636

RESUMO

Ongoing studies conducted in northern polar regions reveal that permafrost stability plays a key role in the modern carbon cycle as it potentially stores considerable quantities of greenhouse gases. Rapid and recent warming of the Arctic permafrost is resulting in significant greenhouse gas emissions, both from physical and microbial processes. The potential impact of greenhouse gas release from the Antarctic region has not, to date, been investigated. In Antarctica, the McMurdo Dry Valleys comprise 10 % of the ice-free soil surface areas in Antarctica and like the northern polar regions are also warming albeit at a slower rate. The work presented herein examines a comprehensive sample suite of soil gas (e.g., CO2, CH4 and He) concentrations and CO2 flux measurements conducted in Taylor Valley during austral summer 2019/2020. Analytical results reveal the presence of significant concentrations of CO2, CH4 and He (up to 3.44 vol%, 18,447 ppmv and 6.49 ppmv, respectively) at the base of the active layer. When compared with the few previously obtained measurements, we observe increased CO2 flux rates (estimated CO2 emissions in the study area of 21.6 km2 ≈ 15 tons day-1). We suggest that the gas source is connected with the deep brines migrating from inland (potentially from beneath the Antarctic Ice Sheet) towards the coast beneath the permafrost layer. These data provide a baseline for future investigations aimed at monitoring the changing rate of greenhouse gas emissions from Antarctic permafrost, and the potential origin of gases, as the southern polar region warms.

16.
Int J STD AIDS ; 21(5): 351-5, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20498106

RESUMO

The aim of this study was to determine the rate and risk factors of HIV-1 mother-to-child transmission (MTCT), the timing of transmission and the transmitted subtype in a population where subtypes B and C co-circulate. One hundred and forty-four babies born to HIV-1-infected mothers were studied. Subtype and timing of transmission were determined by a nested polymerase chain reaction of the gp41 gene. Seven children were infected (4.9%): four were infected intrautero and one intrapartum. The higher frequency of intrautero transmission was statistically significant (P = 0.001). Use of antiretrovirals (ARVs) in the three stages of gestation was a protective risk factor for MTCT (PR = 0.42; CI: 0.21-0.83; P = 0.013). A higher HIV viral load at delivery was the only independent risk factor for MTCT. Early and universal access to ARVs during pregnancy are the most important measures to decrease vertical HIV-1 transmission even in areas where HIV clade distribution differs.


Assuntos
Infecções por HIV/transmissão , HIV-1 , Transmissão Vertical de Doenças Infecciosas , Adulto , Antirretrovirais/uso terapêutico , Brasil , Feminino , Proteína gp41 do Envelope de HIV/genética , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Masculino , Reação em Cadeia da Polimerase , Gravidez , Carga Viral
17.
Pathol Biol (Paris) ; 58(6): 426-9, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19286335

RESUMO

The transcription factor 7-like 2 (TCF7L2) rs7903146 T allele was associated with type 2 diabetes (T2D) in most populations worldwide. In individuals of European descent, the association with T2D was recently found to be modulated by obesity status. However, further studies are necessary to clarify if whether interaction exists among subjects of non-European descent. In the present study, we analyzed the association of rs7903146 with T2D in 90 nonobese (Body Mass Index [BMI] <25kg/m(2)), 171 overweight (25≤BMI<30kg/m(2)) et 98 obese (BMI≥30kg/m(2)) individuals from Tunisia. The T allele was nominally associated with T2D in nonobese subjects (Odds Ratio [OR]=3.24 [1.10-9.53], P=0.021) whereas no effect was detected in overweight (P=0.3) and obese (P=0.22) individuals. Consequently, the same risk allele decreased susceptibility to obesity in T2D subjects (OR=0.47 [0.23-0.94], P=0.029) but not in normoglycemic controls (P=0.44). When analyzed all together, no allelic association was observed with T2D (P=0.20) whereas an artefactual association with decreased obesity (0.59 [0.38-0.90], P=0.013) was detected. As in Europeans, TCF7L2 is therefore not a risk factor for obesity in Tunisians, but its effect on T2D risk is modulated by obesity. In conclusion, the TCF7L2 rs7903146 T allele is nominally associated with T2D susceptibility in nonobese individuals from Tunisia.


Assuntos
Diabetes Mellitus Tipo 2/genética , Polimorfismo de Nucleotídeo Único , Proteína 2 Semelhante ao Fator 7 de Transcrição/genética , Adulto , Idoso , Alelos , Glicemia/análise , Índice de Massa Corporal , Comorbidade , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Frequência do Gene , Genótipo , Humanos , Peso Corporal Ideal , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Prevalência , Fatores de Risco , Proteína 2 Semelhante ao Fator 7 de Transcrição/fisiologia , Tunísia/epidemiologia
18.
J Fr Ophtalmol ; 43(2): 133-138, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31831276

RESUMO

PURPOSE: The objective of this study was to prospectively assess the effect of hyperbaric oxygen therapy (HBOT) on diabetic retinopathy lesions and macular edema in patients undergoing the treatment for diabetic foot ulcers. METHODS: We compared two groups: a first group including 25 patients with non-proliferative diabetic retinopathy treated by HBOT for foot ulcers, and a second group (control group) composed of 25 patients with diabetic retinopathy who did not receive HBOT. The HBOT protocol performed for the patients in the first group was: 30 sessions of 90 minutes each at 2.5 ATA with a mean frequency of five sessions per week. All patients had an ophthalmological exam at baseline (visual acuity, intraocular pressure, fundus exam), fundus photography and an OCT exam. A follow-up exam was performed at the conclusion of the HBOT. RESULTS: Compared to the control group, patients treated with HBOT showed a regression or stabilization of diabetic retinopathy lesions and a decrease in central macular thickness (CMT). CONCLUSION: Hyperbaric oxygen therapy may improve diabetic retinopathy and diabetic macular edema. This therapy may serve as an adjunctive treatment in the management of retinal ischemia and capillary hyperpermeability in diabetic retinopathy.


Assuntos
Pé Diabético/complicações , Pé Diabético/terapia , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Oxigenoterapia Hiperbárica , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Retinopatia Diabética/patologia , Retinopatia Diabética/terapia , Feminino , Fundo de Olho , Humanos , Edema Macular/diagnóstico , Edema Macular/etiologia , Edema Macular/patologia , Edema Macular/terapia , Masculino , Pessoa de Meia-Idade , Dados Preliminares , Prognóstico , Tomografia de Coerência Óptica , Resultado do Tratamento , Acuidade Visual , Cicatrização/fisiologia
19.
Annu Int Conf IEEE Eng Med Biol Soc ; 2020: 410-413, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-33018015

RESUMO

Atrial fibrillation (AF) is an irregular heart rhythm due to disorganized atrial electrical activity, often sustained by rotational drivers called rotors. In the present work, we sought to characterize and discriminate whether simulated single stable rotors are located in the pulmonary veins (PVs) or not, only by using non-invasive signals (i.e., the 12-lead ECG). Several features have been extracted from the signals, such as Hjort descriptors, recurrence quantification analysis (RQA), and principal component analysis. All the extracted features have shown significant discriminatory power, with particular emphasis to the RQA parameters. A decision tree classifier achieved 98.48% accuracy, 83.33% sensitivity, and 100% specificity on simulated data.Clinical Relevance-This study might guide ablation procedures, suggesting doctors to proceed directly in some patients with a pulmonary veins isolation, and avoiding the prior use of an invasive atrial mapping system.


Assuntos
Fibrilação Atrial , Ablação por Cateter , Veias Pulmonares , Fibrilação Atrial/diagnóstico , Eletrocardiografia , Humanos , Veias Pulmonares/cirurgia , Resultado do Tratamento
20.
Pathol Biol (Paris) ; 57(3): e67-71, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-18343606

RESUMO

OBJECTIVES: Sporadic colorectal cancer is influenced by numerous single nucleotide polymorphisms (SNPs), each with minor effects on the cancer risk. This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population. METHODS: Direct sequencing was used to investigate three SNPs in the APC in 48 Tunisian sporadic colorectal cancer cases and 63 controls. RESULTS: There was no statistically significant association between the I1307K, E1317Q and D1822V variants investigated and colorectal cancer risk. CONCLUSION: The lack of association may show that these variants selected for this study are not involved in the colorectal carcinogenic process. Otherwise, the eventual biological effect is so little to go undetected, unless increasing the sample size.


Assuntos
Proteína da Polipose Adenomatosa do Colo/genética , Neoplasias Colorretais/genética , Genes APC , Variação Genética , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , Substituição de Aminoácidos , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/patologia , DNA/sangue , DNA/genética , DNA/isolamento & purificação , Primers do DNA , DNA de Neoplasias/sangue , DNA de Neoplasias/genética , DNA de Neoplasias/isolamento & purificação , Etnicidade/genética , Homozigoto , Humanos , Estadiamento de Neoplasias , Grupos Raciais/genética , Fatores de Risco , Tunísia
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