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1.
Res Q Exerc Sport ; : 1-10, 2024 Jun 05.
Article in English | MEDLINE | ID: mdl-38837186

ABSTRACT

Purpose: Pilates-based programs can help pregnant women deal with the physical and psychological burden derived by major changes in their body. This study was designed to primarily test, in pregnant women, the dose-response and health effects of both pre-partum and post-partum, online Pilates-based program on weight control, low back pain (LBP) severity, sleep disturbances, mood and depression levels. Methods: A total of 136 pregnant women were screened for eligibility (low-risk pregnancy; aged 18-45 years; single pregnancy; 20-28-week gestational age, normal BMI). Participants completed an online Pilates-based program during pregnancy and after delivery, through an online platform guided by a Pilates, Yoga and Lagree certified instructor. Main outcomes (weight control, LBP disability, sleep quality, mood, and mental health) were assessed at baseline and at the completion of pre- and post-partum programs. Results: Regarding pre-partum, significant gains in weight were observed only in low- and intermediate-amount exercisers. Only high-amount exercisers did not display significant increase in LBP-related disability (+42.7%; p = .21) unlike low (+12.2%; p < .0001) and intermediate exercisers (+9.6%; p < .0001). Sleep disturbances increased significantly in low- (+24.3%; p = .005) but not in intermediate- (+4.6%; p = .50) and high-amount exercisers (-0.1%; p = .91). Regardless of the amount of exercise, depression scores improved in all groups. Following post-partum intervention (n = 40), only intermediate-amount exercisers showed significant reductions in sleep disturbances (-24.1%; p = .003) and depression (15.9%; p = .04). Conclusions: Approximately 270 min/week of an online Pilates-based program were needed to prevent LBP worsening, and sleep deterioration in pregnant women. A different pattern was outlined for those women resuming the Pilates-based intervention at post-partum, with 150 min/week emerging as the "dose" of exercise capable of inducing the largest improvements in LBP, sleep, and mood disturbances.

2.
Front Physiol ; 14: 1164943, 2023.
Article in English | MEDLINE | ID: mdl-37228822

ABSTRACT

Introduction: Recent research highlights the need for a correct instrument for monitoring the individual health status, especially in the elderly. Different definitions of biological aging have been proposed, with a consistent positive association of physical activity and physical fitness with decelerated aging trajectories. The six-minute walking test is considered the current gold standard for estimating the individual fitness status in the elderly. Methods: In this study, we investigated the possibility of overcoming the main limitations of assessing fitness status based on a single measure. As a result, we developed a novel measure of fitness status based on multiple fitness tests. In 176 Sardinian individuals aged 51-80 years we collected the results of eight fitness tests to measure participants' functional mobility, gait, aerobic condition, endurance, upper and lower limb strength, and static and dynamic balance. In addition, the participants' state of health was estimated through validated risk scores for cardiovascular diseases, diabetes, mortality, and a comorbidity index. Results: Six measures contributing to fitness age were extracted, with TUG showing the largest contribution (beta = 2.23 SDs), followed by handgrip strength (beta = -1.98 SDs) and 6MWT distance (beta = -1.11 SDs). Based on fitness age estimates, we developed a biological aging measure using an elastic net model regression as a linear combination of the results of the fitness tests described above. Our newly developed biomarker was significantly associated with risk scores for cardiovascular events (ACC-AHA: r = 0.61; p = 0.0006; MESA: r = 0.21; p = 0.002) and mortality (Levine mortality score: r = 0.90; p = 0.0002) and outperformed the previous definition of fitness status based on the six-minute walking test in predicting an individual health status. Discussion: Our results indicate that a composite measure of biological age based on multiple fitness tests may be helpful for screening and monitoring strategies in clinical practice. However, additional studies are needed to test standardisation and to calibrate and validate the present results.

3.
Ultrasound Obstet Gynecol ; 61(3): 310-324, 2023 03.
Article in English | MEDLINE | ID: mdl-35751902

ABSTRACT

OBJECTIVE: To evaluate the diagnostic accuracy of different ultrasound signs for diagnosing adnexal torsion, using surgery as the reference standard. METHODS: This was a systematic review and meta-analysis of studies published between January 1990 and November 2021 evaluating ovarian edema, adnexal mass, ovarian Doppler flow findings, the whirlpool sign and pelvic fluid as ultrasound signs (index tests) for detecting adnexal torsion, using surgical findings as the reference standard. The search for studies was performed in PubMed/MEDLINE, CINAHL, Scopus, The Cochrane Library, ClinicalTrials.gov and Web of Science databases. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool was used to evaluate the quality of the studies. Pooled sensitivity, specificity, and positive and negative likelihood ratios were calculated separately, and the post-test probability of adnexal torsion following a positive or negative test was also determined. RESULTS: The search identified 1267 citations after excluding duplicates. Eighteen studies were ultimately included in the qualitative and quantitative syntheses. Eight studies (809 patients) analyzed the presence of ovarian edema, eight studies (1044 patients) analyzed the presence of an adnexal mass, 14 studies (1742 patients) analyzed ovarian Doppler flow, six studies (545 patients) analyzed the whirlpool sign and seven studies (981 patients) analyzed the presence of pelvic fluid as ultrasound signs of adnexal torsion. Overall, the quality of most studies was considered to be moderate or good. However, there was a high risk of bias in the patient-selection and index-text domains (with the exception of the whirlpool sign) in a significant proportion of studies. Pooled sensitivity, specificity, and positive and negative likelihood ratios of each ultrasound sign were 58%, 86%, 4.0 and 0.49 for ovarian edema, 69%, 46%, 1.3 and 0.67 for adnexal mass, 65%, 91%, 7.6 and 0.38 for the whirlpool sign, 53%, 95%, 11.0 and 0.49 for ovarian Doppler findings and 55%, 69%, 1.7 and 0.66 for pelvic fluid. Heterogeneity was high for all analyses. CONCLUSIONS: The presence of an adnexal mass or pelvic fluid have poor diagnostic accuracy as ultrasound signs of adnexal torsion, while the presence of ovarian edema, the whirlpool sign and decreased or absent ovarian Doppler flow have good specificity but moderate sensitivity for detecting adnexal torsion. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Subject(s)
Adnexal Diseases , Ovarian Diseases , Female , Pregnancy , Humans , Ovarian Torsion , Torsion Abnormality/diagnostic imaging , Adnexal Diseases/diagnostic imaging , Adnexal Diseases/surgery , Edema
4.
Mech Ageing Dev ; 207: 111713, 2022 10.
Article in English | MEDLINE | ID: mdl-35931241

ABSTRACT

Inflammaging is a low-grade inflammatory state generated by the aging process that can contribute to frailty and age-related diseases in the elderly. However, it can have distinct effects in the elderly living in endemic areas for infectious diseases. An increased inflammatory response may confer protection against infectious agents in these areas, although this advantage can cause accelerating epigenetic aging. In this study, we evaluated the inflammatory profile and the epigenetic age of infected and noninfected individuals from an endemic area in Brazil. The profile of cytokines, chemokines and growth factors analyzed in the sera of the two groups of individuals showed similarities, although infected individuals had a higher concentration of these mediators. A significant increase in IL-1ra, CXCL8, CCL2, CCL3 and CCL4 production was associated with leprosy infection. Notably, elderly individuals displayed distinct immune responses associated with their infection status when compared to adults suggesting an adaptive remodelling of their immune responses. Epigenetic analysis also showed that there was no difference in epigenetic age between the two groups of individuals. However, individuals from the endemic area had a significant accelerated aging when compared to individuals from São Paulo, a non-endemic area in Brazil. Moreover, the latter cohort was also epigenetically aged in relation to an Italian cohort. Our data shows that living in endemic areas for chronic infectious diseases results in remodelling of inflammaging and acceleration of epigenetic aging in individuals regardless of their infectious status. It also highlights that geographical, genetic and environmental factors influence aging and immunosenescence in their pace and profile.


Subject(s)
Communicable Diseases , Interleukin 1 Receptor Antagonist Protein , Aged , Aging/genetics , Brazil/epidemiology , Chemokines , Cytokines , Epigenesis, Genetic , Humans
6.
J Med Screen ; 28(4): 472-479, 2021 12.
Article in English | MEDLINE | ID: mdl-33567993

ABSTRACT

OBJECTIVE: To compare, in a primary human papillomavirus screening setting, two different validated human papillomavirus tests, considering their analytical and clinical screening performances. METHODS: In Tuscany, a human papillomavirus screening program was implemented in 2013. Hybrid capture 2 (Qiagen) was used for testing until May 2016, when it was replaced by the cobas® 4800 human papillomavirus test (Cobas; Roche). We evaluated the performance of Hybrid capture 2 and Cobas on: the same screening population in two different periods (before and after changing to Cobas); the same Hybrid capture 2-positive consecutive samples. Discordant samples (Hybrid capture 2-positive/Cobas negative) were typed on the L1 gene (reverse line blot, AB Analitica) and E6/E7 genes (BD Onclarity assay). RESULTS: In the considered time period (n = 37,775), human papillomavirus positivity was 9.8% and 7.4%, respectively, for Hybrid capture 2 and Cobas (p < 0.0001). At immediate colposcopy, the cervical intraepithelial neoplasia, grade 2 positive predictive value was, respectively, 23.8% and 34% (p < 0.001). At one-year recall, human papillomavirus persistence was, respectively, 40.6% and 62.2% (p < 0.0001). Of Hybrid capture 2-positive re-tested samples (n = 620), 32.4% were Cobas negative. Of discordant samples typed on L1, 7% were positive for the 12 high-risk human papillomavirus. Of the samples found to be negative for the 12 high-risk human papillomavirus types on L1, 14.5% were positive on E6/E7 typing. Among the discordant samples, the only two cervical intraepithelial neoplasia (CIN) grade 3 lesions were non-high-risk human papillomavirus positive on both L1 and E6/E7 typing. CONCLUSION: At baseline, Hybrid capture 2 showed greater human papillomavirus positivity and a lower CIN2+ positive predictive value than Cobas, which was more specific than Hybrid capture 2 in detection of high-risk human papillomavirus: 80% of discordant samples were confirmed as high-risk human papillomavirus negative. This higher analytical specificity determined the non-identification of two CIN3 lesions.


Subject(s)
Alphapapillomavirus , Papillomavirus Infections , Uterine Cervical Dysplasia , Uterine Cervical Neoplasms , DNA, Viral , Early Detection of Cancer , Female , Humans , Papillomaviridae/genetics , Papillomavirus Infections/diagnosis , Sensitivity and Specificity , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Dysplasia/diagnosis
7.
8.
B-ENT ; 12(4): 285-289, 2016.
Article in English | MEDLINE | ID: mdl-29709132

ABSTRACT

Comparison of the cough reflex test and water swallowing test in healthy participants and neurological patients. BACKGROUND: Silent aspiration is poorly identified by traditional clinical swallowing evaluations. Recently, sevral studies have proposed the use of a cough reflex test (CRT) for screening patients at risk of aspirations. The first aithis study is to investigate the CRT thresholds of citric acid concentration for identifying cough responses in healthy participants and neurological patients. The second aim is to compare the results of the CRT with the water swallowing test (WST), a standard screening test for identifying cough responses in neurological patients. METHODS: The CRT and then the WST were administered to 100 neurological patients and 100 healthy participants. For the CRT, we administered incremental solutions of citric acid interspersed with placebo doses. We used the results of the CRT in healthy participants to define a citric acid concentration cut-off, which could be used with neurological patients as a screening for aspirations. RESULTS: As all controls coughed at a concentration of 0.1 mol/L, this was used as a cut-off in patients to identify coughing as a screening for aspiration risk. Patients showed cough reflexes at concentrations significantly higher than controls (p=0 .001). The WST was not administered to 17 patients, due to cognitive deficits and severe clinical conditions. Thirty six patients had a cough response above the screening cut-off (> 0.1 mol/L), 25 of which (30.1%) also had a positive cough response during the WST. CONCLUSION: The CRT correlated significantly with the WST. Unlike the WST, the CRT could be easily administered to severely impaired patients. Our results indicate the use of the CRT as a screening test for silent aspirators.


Subject(s)
Cough/physiopathology , Deglutition/physiology , Nervous System Diseases/physiopathology , Reflex , Female , Humans , Male , Middle Aged , Water
9.
Article in Spanish | LILACS-Express | LILACS, LIPECS | ID: biblio-1522581

ABSTRACT

Objetivos: Evaluar la factibilidad técnica para medir la longitud del cérvix por ecografía abdominal en gestantes entre 20 y 23 semanas, y la correlación entre los valores obtenidos por ecografía abdominal versus ecografía vaginal. Diseño: Estudio observacional transversal. Lugar: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Participantes: Gestantes. Métodos: En 67 gestantes normales sin factores de riesgo para parto pretérmino (PP), entre las 20 y 23 semanas de gestación, se midió la longitud cervical, en 30 de ellas tanto por ecografía abdominal utilizando transductor convexo de 3-5 MHZ como por ecografía vaginal con transductor endocavitario de 5-7 MHZ. Principales medidas de resultados: Correlación de la medida de la longitud del cérvix por ecografía abdominal y transvaginal. Resultados: En 65 gestantes se obtuvo una medida satisfactoria de la longitud del cérvix mediante ecografía abdominal (97% de casos). Se encontró correlación entre las mediciones por ecografía abdominal y vaginal (coeficiente Pearson 0,646, p<0,0001) y no existió diferencia significativa entre ambos valores (p:0,126) para IC del 95%. Conclusiones: En 97% de los casos estudiados se obtuvo una medida satisfactoria de la longitud del cérvix por ecografía abdominal. Hubo correlación, sin diferencia significativa, entre las mediciones obtenidas por vía abdominal y vaginal.


Objectives: To determine the feasibility of cervical length measurement by transabdominal ultrasound at 20-23 weeks of gestation and to correlate this measurements with those obtained by tansvaginal ultrasound. Design: Observational cross-sectional study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Participants: Pregnant women. Methods: In 67 pregnant women with no risk factors for preterm delivery (PTD) measurement of the uterine cervix at 20-23 weeks of gestation was performed. Thirty women (30) underwent both transabdominal and transvaginal ultrasound measurement. Main outcome measures: Correlation of uterine cervix measurement by abdominal and transvaginal ultrasound. Results: The cervix could be measured satisfactorily by transabdominal measurement in 65 women (97%). There was a good correlation between transabdominal and transvaginal measurement (r<.0.646, p<0.001) and there was no significant difference between both measurements (p:0.126). Conclusions: The uterine cervix could be measured by transabdominal ultrasound in 97% of pregnant women. There was correlation between measurements obtained by transabdominal and transvaginal ultrasound.

10.
Article in Spanish | LILACS-Express | LILACS, LIPECS | ID: biblio-1522546

ABSTRACT

Objetivos: Evaluar la factibilidad técnica para medir la longitud del cérvix por ecografía abdominal en gestantes entre 20 y 23 semanas, y la correlación entre los valores obtenidos por ecografía abdominal vs. ecografía vaginal. Diseño: Estudio observacional transversal. Institución: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Participantes: Gestantes normales de 20 a 23 semanas de gestación. Métodos: Se midió la longitud cervical por ecografía a 67 gestantes normales sin factores de riesgo para parto pretérmino, entre las 20 y 23 semanas de gestación, con la finalidad de medir la longitud cervical. En 30 de las embarazadas se midió la longitud cervical por ecografía abdominal utilizando transductor convexo de 3-5 MHZ y por ecografía vaginal con transductor endocavitario de 5-7 MHZ. Principales medidas de resultados: Medida de la longitud del cérvix. Resultados: En 65 gestantes se obtuvo una medida satisfactoria de la longitud del cérvix mediante ecografía abdominal (97% de los casos). Se encontró correlación entre las mediciones por ecografía abdominal y vaginal (coeficiente de Pearson 0,646, p<0,001) y no existió diferencia significativa entre ambas mediciones (p: 0,126). Conclusiones: En 97% de los casos estudiados se obtuvo una medida satisfactoria de la longitud del cérvix por ecografía abdominal. Hubo correlación entre las mediciones obtenidas por vía abdominal y vaginal.


Objectives: To assess the feasibility of measuring cervical by transabdominal ultrasound between 20 and 23 weeks of gestation and compare these measurements with those obtained by transvaginal ultrasound. Design: Crosssectional study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Participants: Normal pregnant women with no risk factors for preterm delivery (PTD). Methods: Cervical length was measured to 67 normal pregnant women 20-23 weeks by transabdominal ultrasound. In 30 women cervical length was measured by abdominal ultrasound using 3-5 MHZ convex transducer and by vaginal ultrasound with 5-7 MHZ endotransducer. Main outcome measures: Cervical length measurement. Results: The cervix was satisfactorily measured by transabdominal ultrasound in 65 women (97%). There was good correlation between transabdominal and transvaginal measurement (r<.0.646, p<0.001) with no significant difference between those measurements (p: 0.126). Conclusions: The cervix could be measured by transabdominal ultrasound in 97% of women. There was correlation between transabdominal and transvaginal ultrasound measurements.

11.
Aging Clin Exp Res ; 25 Suppl 1: S121-4, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24078441

ABSTRACT

Teriparatide (TPTD), the amino-terminal parathyroid hormone recombinant peptide [PTH (1­34)], is a drug with a proven anabolic action on the bone, effective in preventing vertebral and non-vertebral fragility fractures. Recent publications have investigated in great detail the TPTD action on the cortical bone, highlighting the increased strength in the critical zone of the hip with high risk of fracture in osteoporotic patients Poole (PLoS ONE 6:e16190, 2011). In November 2002, TPTD was approved by the FDA for use in post-menopausal women and men with osteoporosis at high risk of fracture and in patients with glucocorticoid-induced osteoporosis and, since then, has been used to treat more than 1 million patients worldwide (J Bone Miner Res 27(12):2429-2437, 2012). The unchanged safety profile and the well-known mechanism of action of this drug have led doctors to explore the use of TPTD in other conditions such as delayed fracture healing, non-union, osteonecrosis of the jaw, etc. The positive reports that have resulted from these studies are helping to hypothesize a new perspective on the wider use of this drug, but warrant further clinical investigation to consolidate these results.


Subject(s)
Bone and Bones/drug effects , Osteoporosis/drug therapy , Osteoporotic Fractures/prevention & control , Teriparatide/therapeutic use , Arthritis/diagnostic imaging , Arthritis/drug therapy , Arthritis/surgery , Bone Density/drug effects , Female , Fracture Fixation, Internal , Fracture Healing , Glucocorticoids/adverse effects , Humans , Male , Parathyroid Hormone/metabolism , Peptide Fragments/metabolism , Postmenopause , Radiography , Risk
12.
Ann Bot ; 111(5): 987-98, 2013 May.
Article in English | MEDLINE | ID: mdl-23532044

ABSTRACT

BACKGROUND AND AIMS: The germination test currently represents the most used method to assess seed viability in germplasm banks, despite the difficulties caused by the occurrence of seed dormancy. Furthermore, seed longevity can vary considerably across species and populations from different environments, and studies related to the eco-physiological processes underlying such variations are still limited in their depth. The aim of the present work was the identification of reliable molecular markers that might help in monitoring seed deterioration. METHODS: Dry seeds were subjected to artificial ageing and collected at different time points for molecular/biochemical analyses. DNA damage was measured using the RAPD (random amplified polymorphic DNA) approach while the seed antioxidant profile was obtained using both the DPPH (1,1-diphenyl, 2-picrylhydrazyl) assay and the Folin-Ciocalteu reagent method. Electron paramagnetic resonance (EPR) provided profiles of free radicals. Quantitative real-time polymerase chain reaction (QRT-PCR) was used to assess the expression profiles of the antioxidant genes MT2 (type 2 metallothionein) and SOD (superoxide dismutase). A modified QRT-PCR protocol was used to determine telomere length. KEY RESULTS: The RAPD profiles highlighted different capacities of the two Silene species to overcome DNA damage induced by artificial ageing. The antioxidant profiles of dry and rehydrated seeds revealed that the high-altitude taxon Silene acaulis was characterized by a lower antioxidant specific activity. Significant upregulation of the MT2 and SOD genes was observed only in the rehydrated seeds of the low-altitude species. Rehydration resulted in telomere lengthening in both Silene species. CONCLUSIONS: Different seed viability markers have been selected for plant species showing inherent variation of seed longevity. RAPD analysis, quantification of redox activity of non-enzymatic antioxidant compounds and gene expression profiling provide deeper insights to study seed viability during storage. Telomere lengthening is a promising tool to discriminate between short- and long-lived species.


Subject(s)
Antioxidants/metabolism , DNA Fingerprinting/methods , Seeds/growth & development , Seeds/genetics , Silene/growth & development , Silene/genetics , Telomere/metabolism , Altitude , DNA Primers/metabolism , Electron Spin Resonance Spectroscopy , Free Radical Scavengers/metabolism , Gene Expression Profiling , Gene Expression Regulation, Plant , Genes, Plant/genetics , Germination/genetics , Phenols/metabolism , Phylogeny , Plant Extracts/metabolism , Random Amplified Polymorphic DNA Technique , Reactive Oxygen Species/metabolism , Telomere Homeostasis/genetics
13.
J Med Screen ; 19 Suppl 1: 57-66, 2012.
Article in English | MEDLINE | ID: mdl-22972811

ABSTRACT

OBJECTIVE: To estimate the cumulative risk of a false-positive screening result in European mammographic screening programmes, and examine the rates and procedures of further assessment. METHODS: A literature review was conducted to identify studies of the cumulative risk of a false-positive result in European screening programmes (390,000 women). We then examined aggregate data, cross-sectional information about further assessment procedures among women with positive results in 20 mammographic screening programmes from 17 countries (1.7 million initial screens, 5.9 million subsequent screens), collected by the European Network for Information on Cancer project (EUNICE). RESULTS: The estimated cumulative risk of a false-positive screening result in women aged 50-69 undergoing 10 biennial screening tests varied from 8% to 21% in the three studies examined (pooled estimate 19.7%). The cumulative risk of an invasive procedure with benign outcome ranged from 1.8% to 6.3% (pooled estimate 2.9%). The risk of undergoing surgical intervention with benign outcome was 0.9% (one study only). From the EUNICE project, the proportions of all screening examinations in the programmes resulting in needle biopsy were 2.2% and 1.1% for initial and subsequent screens, respectively, though the rates differed between countries; the corresponding rates of surgical interventions among women without breast cancer were 0.19% and 0.07%. CONCLUSION: The specific investigative procedures following a recall should be considered when examining the cumulative risk of a false-positive screening result. Most women with a positive screening test undergo a non-invasive assessment procedure. Only a small proportion of recalled women undergo needle biopsy, and even fewer undergo surgical intervention.


Subject(s)
Breast Neoplasms/diagnosis , Mammography/statistics & numerical data , Mass Screening/methods , False Positive Reactions , Female , Humans
14.
J Med Screen ; 19 Suppl 1: 72-82, 2012.
Article in English | MEDLINE | ID: mdl-22972813

ABSTRACT

OBJECTIVES: To summarize participation and coverage rates in population mammographic screening programmes for breast cancer in Europe. METHODS: We used the European Network for Information on Cancer (EUNICE), a web-based data warehouse (EUNICE Breast Cancer Screening Monitoring, EBCSM) for breast cancer screening, to obtain information on programme characteristics, coverage and participation from its initial application in 10 national and 16 regional programmes in 18 European countries. RESULTS: The total population targeted by the screening programme services covered in the report comprised 26.9 million women predominantly aged 50-69. Most of the collected data relates to 2005, 2006 and/or 2007. The average participation rate across all programmes was 53.4% (range 19.4-88.9% of personally invited); or 66.4% excluding Poland, a large programme that initiated personal invitations in 2007. Thirteen of the 26 programmes achieved the European Union benchmark of acceptable participation (>70%), nine achieved the desirable level (>75%). Despite considerable invitation coverage across all programmes (79.3%, range 50.9-115.2%) only 48.2% (range 28.4-92.1%) of the target population were actually screened. The overall invitation and examination coverage excluding Poland was 70.9% and 50.3%, respectively. CONCLUSIONS: The results demonstrate the feasibility of European-wide screening monitoring using the EBCSM data warehouse, although further efforts to refine the system and to harmonize standards and data collection practices will be required, to fully integrate all European countries. The more than three-fold difference in the examination coverage should be taken into account in the evaluation of service screening programmes.


Subject(s)
Breast Neoplasms/diagnosis , Mammography/statistics & numerical data , Early Detection of Cancer/statistics & numerical data , Europe , Female , Humans , Mass Screening/statistics & numerical data
15.
Acta Otorhinolaryngol Ital ; 32(2): 124-9, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22767975

ABSTRACT

The aim of our study was to assess the efficacy and safety of endoscopic coblator adenoidectomy compared to cold curettage in paediatric patients. Forty homogeneous children (4-16 years of age) with adenoid hypertrophy were divided in 2 groups to receive adenoidectomy using cold curettage (A) or coblator (B). After surgery the following outcomes were evaluated: pain score on first day, days reporting pain, analgesic days, liquid diet days, absent from school days, pain score, days with nausea, days with fever, endoscopic adenoid grade and intraoperative bleeding. Forty days after surgery, basal rhinomanometry and nasal decongestion test were measured. The coblation group reported significantly less pain on the first post-operative day, days reporting pain, analgesic days, liquid diet days and absent school days. Patients in group A showed a higher grade of adenoid persistence by rhinoendoscopy, with high values of nasal resistances at the rhinomanometry even after nasal decongestion, consistent with greater adenoid persistence after cold curettage causing air flow obstruction even after turbinate decongestion. Intra-operative bleeding during coblation was significantly less compared the group undergoing cold curettage. Coblator treatment significantly improved patient recovery compared to curettage. Endoscopic coblation adenoidectomy ensures complete removal of adenoids and reduces postoperative adenoid grade. It can also be considered safer because it is under endoscopic control and can reach the cranial portion of the adenoid and its intranasal extension.


Subject(s)
Adenoidectomy/methods , Curettage/methods , Endoscopy/methods , Adenoidectomy/adverse effects , Adolescent , Child , Child, Preschool , Cold Temperature , Curettage/adverse effects , Endoscopy/adverse effects , Female , Humans , Male
16.
Gene ; 493(2): 228-34, 2012 Feb 10.
Article in English | MEDLINE | ID: mdl-22173106

ABSTRACT

Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder, potentially leading to lethal hyperammonemia. Based on the age of onset, there are two distinct phenotypes: neonatal and late form. The CPS1 enzyme, located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa, is encoded by the CPS1 gene. At present more than 220 clear-cut genetic lesions leading to CPS1D have been reported. As most of them are private mutations diagnosis is complicated. Here we report an overview of the main clinical findings and biochemical and molecular data of 13 CPS1D Italian patients. In two of them, one with the neonatal form and one with the late form, cadaveric auxiliary liver transplant was performed. Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature. Seven of the newly identified mutations were missense/nonsense changes. In order to study their protein level effects, we performed an in silico analysis whose results indicate that the amino acid substitutions occur at evolutionary conserved positions and affect residues necessary for enzyme stability or function.


Subject(s)
Carbamoyl-Phosphate Synthase (Ammonia)/genetics , Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics , Adolescent , Adult , Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis , Child, Preschool , Cohort Studies , Female , Humans , Infant , Infant, Newborn , Italy , Male , Mutation
17.
Neuroradiol J ; 25(5): 569-74, 2012 Nov.
Article in English | MEDLINE | ID: mdl-24029092

ABSTRACT

Rosai-Dorfman disease (RDD) was firstly described in 1969 as a benign proliferative disorder of histiocytes with systemic symptoms and lymphadenopathy. This disease is of uncertain pathogenesis and mostly occurs in children and young adults. The typical clinical features of RDD include bilateral painless cervical lymphadenopathy, but extranodal involvement may also be present. The most common extranodal sites include organs such as the respiratory tract, skin, nasal cavity, orbit and bone. Isolated central nervous system (CNS) manifestations are extremely rare. In case of CNS involvement, the commonest imaging findings are dural-based extra-axial enhancing masses. We describe a case of intracranial RDD mimicking multiple meningiomas both clinically and radiologically in a 57-year-old man presenting with a six-year history of progressive right visual and hearing loss and tinnitus. In cases of multiple extra-axial lesions it is worth bearing in mind the possible differential diagnosis for intracranial RDD and eventually propose to the patient further investigations.

18.
Clin Exp Rheumatol ; 30(1): 12-22, 2012.
Article in English | MEDLINE | ID: mdl-22152116

ABSTRACT

OBJECTIVES: The paleopathological study of the skeletal remains belonging to Cardinal Carlo de' Medici (1595-1666), son of Ferdinando I (1549-1609) and Cristina of Lorena (1565-1637), has been presented previously. A diagnosis of Klippel-Feil syndrome, tuberculosis and a polyarthopathy, interpreted as rheumatoid arthritis, was suggested. A revision of this case based on the analysis of the historical documents and of some radiological images of Carlo's bones has been proposed recently; according to the Authors, the Cardinal was affected by the 'Medici syndrome', a combined Psoriatic-DISH arthropathy. This revision offers us the opportunity to discuss this complex case, comparing different points of view, and to present the results of the molecular analyses carried out on Carlo's bone samples. We looked for the genetic risk factors of rheumatoid arthritis (RA) and psoriatic arthritis (PsA). We also searched for the primary candidate genes of RA and PsA, i.e. DR4 or DR1 and Cw6 or DR7 respectively, the latter predisposing also for psoriasis. METHODS: An original molecular protocol was applied to achieve an aDNA uncontaminated by exogenous sources and almost intact, starting from one of the Cardinal's rib pieces. The allele risk factors for both diseases were identified by PCR-SSP assay as HLA genotyping methodology. RESULTS: Our data assigned Carlo the genotype DRB1*04/*11 for HLA-DRB locus and Cw*04/*12 for HLA-C locus. CONCLUSIONS: Since Carlo was infected by M. tuberculosis during infancy and was carrying the DR4 variant but not the Cw6, he surely had a predisposition to RA, not to PsA and/or psoriasis. The diagnosis of RA is thus confirmed.


Subject(s)
Arthritis, Rheumatoid/history , Famous Persons , History, 17th Century , Humans , Italy , Male
19.
Eur Radiol ; 21(9): 2004-10, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21533865

ABSTRACT

OBJECTIVES: To determine whether Radiofrequency Ablation (RFA) followed by Radiotherapy (RT) (RFA-RT) produces better palliation in terms of pain than RT alone in patients with osteolytic bone metastases. METHODS: Patients with solitary bone metastases and a pain score of least 5 or more on the VAS scale were selected. Fifteen patients were treated with RFA-RT (20 Gy delivered in 5 fractions of 4 Gy over 1 week) and were compared with a matched group (30 subjects) treated by RT. RESULTS: A complete response in terms of pain relief at 12 weeks was documented in 16.6% (5/30) and 53.3% (8/15) of the subjects treated by RT or RFA-RT, respectively (p = 0.027). The overall response rate at 12 weeks was 93.3% (14 patients) in the group treated by RFA-RT and 59.9% (18 patients) in the group treated by RT (p = 0.048). Although recurrent pain was documented more frequently after RT (26.6%) than after RFA-RT (6.7%) the difference did not reach statistical significance. The morbidity related to RT did not significantly differ when this treatment was associated with RFA. CONCLUSIONS: Our results suggest that RFA-RT is safe and more effective than RT. The findings described here should serve as a framework around which to design future clinical trials.


Subject(s)
Bone Neoplasms/radiotherapy , Bone Neoplasms/surgery , Catheter Ablation/methods , Palliative Care , Radiotherapy/methods , Aged , Bone Neoplasms/mortality , Bone Neoplasms/secondary , Chi-Square Distribution , Cohort Studies , Combined Modality Therapy , Confidence Intervals , Feasibility Studies , Female , Humans , Male , Osteolysis/radiotherapy , Osteolysis/surgery , Pain Management/methods , Pain Measurement , Pain, Intractable/radiotherapy , Pain, Intractable/surgery , Prognosis , Risk Assessment , Statistics, Nonparametric , Survival Analysis
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