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1.
Ig Sanita Pubbl ; 77(3): 509-517, 2021.
Artigo em Italiano | MEDLINE | ID: mdl-34342600

RESUMO

The initial phases of COVID-19 emergency in Italy highlighted the technical delay that the national health system has accumulated in health services digitalization. Italian hospitals rapidly applied a demand systems for virtual health services based on tele-triage, tele-consultation and tele-visits procedures. This led, in the following months, the integration of virtual healthcare services applicable to the Azienda Ospedaliero Universitaria Pisa (AOUP). In particular, BCure system represents an important technological investment for the remote management of care protocols and the analysis of the complete use of health services. This is a unique system for sharing information between specialists, general practitioners and patients.


Assuntos
COVID-19 , Atenção à Saúde , Serviço Hospitalar de Emergência , Hospitais de Ensino , Humanos , Itália , SARS-CoV-2
2.
J Eur Acad Dermatol Venereol ; 31(12): 1991-1998, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28608530

RESUMO

Psoriasis is a chronic inflammatory disease that generally affects the skin, nails and joints. The burden of psoriatic disease in Latin America and the Caribbean (LAC) remains largely unknown. To estimate the burden of psoriasis in LAC. We conducted a systematic review following the MOOSE and PRISMA statements. We searched published studies in MEDLINE, EMBASE, LILACS and CENTRAL from 1st January 2000 to 5th August 2015. We included studies that reported incidence, prevalence, health resource use and health expenditures, treatment patterns, comparative effectiveness of different drugs, patients reported outcomes, adherence to treatment and patient preferences in LAC. Risk of bias was assessed evaluating selection of participants, control of cofounders, measurement of exposure and outcome and conflict of interest. Pairs of reviewers independently selected, extracted and assessed the bias risk of the studies. The systematic review was registered at PROSPERO (CRD42016038325). A total of 18 studies from 12 LAC countries were included. Most were observational studies, between which there was a large heterogeneity of outcomes. Population-based studies were not found and most data came from hospital registries. One study reported an incidence of psoriatic arthritis in 6.26 cases per 100 000 person-years. Another study found an incidence of psoriasis 1020 per 100 000 patient-year attending at a dermatology clinic. The prevalence reported in the Argentinean health service was 74 cases per 100 000. Further, psoriasis has been shown to have a substantial negative impact on quality of life. A number of studies also indicated that non-communicable disease burden increases with the presence and severity of psoriasis. With regard to treatment pattern, methotrexate was the dominant systemic therapy. In conclusion, there is an important lack of information from LAC concerning the burden of psoriasis. Further studies investigating the burden of psoriasis in representative LAC populations are needed.


Assuntos
Psoríase , Região do Caribe/epidemiologia , Humanos , Incidência , América Latina/epidemiologia , Prevalência , Psoríase/epidemiologia , Psoríase/terapia
3.
Lymphology ; 49(1): 1-7, 2016 03.
Artigo em Inglês | MEDLINE | ID: mdl-29906053

RESUMO

Chyloperitoneum is not rare and is often associated with other chylous disorders particularly in more complex clinical conditions. An accurate diagnostic study is indispensable to plan the correct therapeutic approach, and we examined the long-term outcomes of our experience in the management of primary and secondary chyloperitoneum in fifty-eight patients (50 adults and 8 children; 34 primary and 24 secondary forms). Diagnostic assessment consisted of aracentesis, whole body lymphoscintigraphy, lymphangio-MR, and lymphangio-CT (LAG-CT). The management of chyloperitoneum consisted initially of non-operative procedures (MCT diet, TPN, octreotide). Surgical treatment was performed in patients not responsive to conservative methods and involved different options using surgical and microsurgical approaches. Microsurgical techniques included chylousvenous shunts connecting chyliferous vessels and mesenteric veins. Fibrin glue or platelet gel injection at the site of the chylous leakage was also used to treat one case of refractory secondary chyloperitoneum. Patients were followed clinically and instrumentally (echography and labs tests) for 6 months to over 5 years. We found that LAG-CT was the primary diagnostic modality to provide precise topographic information concerning the site, cause, and extension of chylous pathology, all of which allowed proper planning of therapeutic procedures. Thirty-four patients did not have a relapse of the chyloperitoneum and 22 patients had a persistence of a small quanitity of ascites with no protein imbalance. We observed early relapse of chylous ascites in 2 cases that required a peritoneal-jugular shunt leading to good outcomes. An accurate diagnostic study (above all LAG-CT) and a microsurgical approach proved to represent an effective management of chyloperitoneum refractory to non-operative treatment.


Assuntos
Anastomose Cirúrgica/métodos , Ascite Quilosa/terapia , Dietoterapia , Fármacos Gastrointestinais/uso terapêutico , Vasos Linfáticos/cirurgia , Octreotida/uso terapêutico , Nutrição Parenteral Total , Veias/cirurgia , Adulto , Criança , Pré-Escolar , Ascite Quilosa/diagnóstico por imagem , Feminino , Humanos , Lactente , Linfografia , Linfocintigrafia , Imageamento por Ressonância Magnética , Masculino , Microcirurgia/métodos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Adulto Jovem
4.
Lymphology ; 47(1): 40-3, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25109168

RESUMO

We present a case of a 58 year-old woman with primary chylopericardium associated with chylothorax. Chylopericardium is a condition in which chylous fluid containing a high concentration of triglycerides accumulates in the pericardial cavity, and it can form for many different reasons. 3D computed tomography with lymphography precisely depicted the specific location of the lymphatic leak in this patient, which was successfully repaired using targeted video assisted thoracic surgery (VATS).


Assuntos
Imageamento Tridimensional , Linfografia , Derrame Pericárdico/diagnóstico por imagem , Derrame Pericárdico/cirurgia , Cirurgia Torácica Vídeoassistida , Tomografia Computadorizada por Raios X , Feminino , Humanos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Interpretação de Imagem Radiográfica Assistida por Computador , Resultado do Tratamento
5.
Int J Colorectal Dis ; 28(12): 1699-705, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23846517

RESUMO

PURPOSE: We evaluated the role of quantitative assessment by maximum standardized uptake value (SUVmax) on F-18 fluorodeoxyglucose [F-18]FDG positron emission tomography/computed tomography (PET/CT) in stratifying colorectal cancer (CRC) patients with unexplained carcinoembryonic antigen (CEA) rise after surgical curative resection. MATERIAL AND METHODS: Forty asymptomatic patients (mean age, 64 ± 12 years) with previous CRC and current serum CEA levels >5 ng/ml underwent [F-18] FDG PET/CT 13 ± 3 months after complete surgical resection. The SUVmax was registered on anastomosis and peri-anastomotic tissue lesions, if present. The patients were followed for 24 ± 9 months thereafter. Re-intervention, evidence of newly discovered distant metastases, and death were recognized as main events and constituted surrogate end points. The receiver-operator-curve (ROC) analysis was performed to estimate the optimal SUVmax cut-off to predict patients at high risk of main events. PET/CT results were then related to disease outcome (overall survival; OS). RESULTS: The mean SUVmax at the anastomotic site was 6.2 ± 3 (range 2.6-15). At multivariate logistic regression analysis, the anastomotic SUVmax remained as the only significant contributor to the prediction of the events (p = 0.004; OR 1.97). The ROC analysis recognized that the optimal threshold of SUVmax to differentiate patients was 5.7. A worse OS was observed in patients presenting with a SUVmax greater than 5.7 as compared to those having lesser (median survival: 16 vs. 31 months; p = 0.002). CONCLUSIONS: The quantitative assessment by SUVmax on [F-18]FDG PET/CT may be helpful in patients presenting with unexplained CEA rise after curative resection of CRC, by identifying those at risk of main events.


Assuntos
Antígeno Carcinoembrionário/sangue , Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Colorretais/cirurgia , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/sangue , Determinação de Ponto Final , Feminino , Seguimentos , Humanos , Estimativa de Kaplan-Meier , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Curva ROC
6.
Eur J Nutr ; 52(1): 247-53, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22322925

RESUMO

PURPOSE: Body mass index (BMI) and waist circumference (WC) are widely used to predict % body fat (BF) and classify degrees of pediatric adiposity. However, both measures have limitations. The aim of this study was to evaluate whether a combination of WC and BMI would more accurately predict %BF than either alone. METHODS: In a nationally representative sample of 2,303 6- to 13-year-old Swiss children, weight, height, and WC were measured, and %BF was determined from multiple skinfold thicknesses. Regression and receiver operating characteristic (ROC) curves were used to evaluate the combination of WC and BMI in predicting %BF against WC or BMI alone. An optimized composite score (CS) was generated. RESULTS: A quadratic polynomial combination of WC and BMI led to a better prediction of %BF (r (2) = 0.68) compared with the two measures alone (r (2) = 0.58-0.62). The areas under the ROC curve for the CS [0.6 * WC-SDS + 0.4 * BMI-SDS] ranged from 0.962 ± 0.0053 (overweight girls) to 0.982 ± 0.0046 (obese boys) and were somewhat greater than the AUCs for either BMI or WC alone. At a given specificity, the sensitivity of the prediction of overweight and obesity based on the CS was higher than that based on either WC or BMI alone, although the improvement was small. CONCLUSION: Both BMI and WC are good predictors of %BF in primary school children. However, a composite score incorporating both measures increased sensitivity at a constant specificity as compared to the individual measures. It may therefore be a useful tool for clinical and epidemiological studies of pediatric adiposity.


Assuntos
Adiposidade , Índice de Massa Corporal , Circunferência da Cintura , Adolescente , Área Sob a Curva , Peso Corporal , Criança , Análise por Conglomerados , Feminino , Humanos , Masculino , Obesidade/diagnóstico , Sobrepeso/diagnóstico , Curva ROC , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Dobras Cutâneas
7.
Lymphology ; 46(1): 20-6, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23930438

RESUMO

Despite the development of minimal access dissection techniques, use of superficial groin dissection alone, and other recommendations to reduce morbidity in melanoma treatment, the incidence of lymphedema is still significant. The purpose of the current study was to assess the efficacy of microsurgical methods to limit the morbidity of inguinal lymphadenectomy. We conducted a retrospective review of patients who underwent groin dissection for melanoma treatment from February 2006 to April 2009. A total of 59 melanoma patients with positive groin lymph nodes comprised 18 patients (T-group) with melanoma in the trunk and 41 patients (E-group) who had melanoma in an extremity and currently have lymphedema. The T-group patients underwent primary prevention of lymphedema with microsurgical lymphatic-venous anastomoses (LVA) performed simultaneously with groin dissection. The E-group patients underwent LVA to treat the secondary lymphedema after an accurate oncological and lymphological assessment. Limb volume measurements and lymphoscintigraphy were performed pre- and postoperatively to assess short and long term outcome. No lymphedema occurred after microsurgical primary preventive approach in the T- group. Significant (average 80% reduction of pre-op excess volume) reduction of lymphedema resulted after microsurgical treatment for secondary leg lymphedema. Post-operative lymphoscintigraphy in 35 patients demonstrated patency of microsurgical anastomoses in all cases with an average follow-up of 42 months. Study results demonstrate that microsurgical LVA primary prevention prevented lymphedema after inguinal lymphadenectomy in the T-group patients. In addition, lymphatic-venous multiple anastomoses proved to be a successful treatment for clinical lymphedema with particular success if treated at the early stages.


Assuntos
Excisão de Linfonodo , Linfedema/prevenção & controle , Melanoma/secundário , Neoplasias Cutâneas/patologia , Adulto , Idoso , Anastomose Cirúrgica , Feminino , Seguimentos , Virilha , Humanos , Metástase Linfática , Vasos Linfáticos/cirurgia , Linfocintigrafia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Prognóstico , Estudos Retrospectivos , Adulto Jovem
9.
Pathol Biol (Paris) ; 58(1): 1-6, 2010 Feb.
Artigo em Francês | MEDLINE | ID: mdl-19875241

RESUMO

AIM OF STUDY: Monitor evolution of antibiotic resistance of Pseudomonas aeruginosa from 2002 to 2006 in our hospital to optimize antibiotherapy. PATIENTS AND METHOD: The infections/colonizations with P. aeruginosa have been identified by the hospital's informatic database. Bacteriological samples realized 48hours after patient's admission was considered as nosocomial. A Cochran-Armitage test was conducted to assess the evolution of resistance. RESULTS: During this period, 2098 infections/colonizations with P. aeruginosa have been identified. Bacteriological samples (68.5%) were nosocomial. Among the beta-lactam antibiotics, ceftazidime and imipenem were the most active (R=16.8% and 15.2%, respectively), followed by piperacillin and piperacillin-tazobactam (R=24.8%, 18.4%, respectively). Amikacin and tobramycin were more active than gentamicin (R=19.9%; 22.2% and 40.6%, respectively). 28.9% of strains were resistant to ciprofloxacin. Nosocomial strains were significantly more resistant than non-hospital strains: ceftazidime: 17.9% versus 14.2%, p=0.0346; ticarcillin-clavulanic acid: 47.5% versus 39.6%, p=0.0009; piperacillin-tazobactam: 20.0% versus 14.8%, p=0.0046; ciprofloxacin: 30.7% versus 25.2%, p=0.0112. A significant increase in the resistance of nosocomial strains to ceftazidime, ticarcillin-clavulanic acid and piperacillin-tazobactam was noted. Resistance from non-hospital strains to fluoroquinolones, aminoglycosides, ceftazidime, piperacillin and ticarcillin-clavulanic acid decreased significantly. CONCLUSION: P. aeruginosa is a predominantly nosocomial microorganism. There is a decrease of resistance for non-hospital strains. But the resistance of nosocomial strains to antibiotics widely prescribed in hospital is worrying.


Assuntos
Infecção Hospitalar/microbiologia , Farmacorresistência Bacteriana Múltipla , Hospitais Universitários/estatística & dados numéricos , Infecções por Pseudomonas/microbiologia , Pseudomonas aeruginosa/efeitos dos fármacos , Antibacterianos/farmacologia , Infecção Hospitalar/epidemiologia , França/epidemiologia , Humanos , Infecções por Pseudomonas/epidemiologia , Pseudomonas aeruginosa/isolamento & purificação , Estudos Retrospectivos
11.
J Chem Phys ; 130(4): 044108, 2009 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-19191378

RESUMO

Time-dependent density-functional theory (TDDFT) is widely used in the study of linear response properties of finite systems. However, there are difficulties in properly describing excited states, which have double- and higher-excitation characters, which are particularly important in molecules with an open-shell ground state. These states would be described if the exact TDDFT kernel were used; however, within the adiabatic approximation to the exchange-correlation (xc) kernel, the calculated excitation energies have a strict single-excitation character and are fewer than the real ones. A frequency-dependent xc kernel could create extra poles in the response function, which would describe states with a multiple-excitation character. We introduce a frequency-dependent xc kernel, which can reproduce, within TDDFT, double excitations in finite systems. In order to achieve this, we use the Bethe-Salpeter equation with a dynamically screened Coulomb interaction W(omega), which can describe these excitations, and from this we obtain the xc kernel. Using a two-electron model system, we show that the frequency dependence of W does indeed introduce the double excitations that are instead absent in any static approximation of the electron-hole screening.

12.
Infect Control Hosp Epidemiol ; 28(3): 265-72, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17326016

RESUMO

OBJECTIVE: To assess nosocomial infection (NI) as a risk factor for death and to estimate the population-attributable risk of death from NI. DESIGN: A prospective cohort study of patients with and without NI. SETTING: Nimes University Hospital, Nimes, France. PATIENTS: Patients were recruited from May 7, 2001, to January 10, 2003. Patients in acute care and long-term care units who had NI were enrolled, and patients without NI were randomly selected and matched with patients with NI for age, sex, type of care (acute care vs. long-term care) and length of stay in hospital at study inclusion. OUTCOME MEASURES: Vital status within 60 days after study inclusion was assessed. We used conditional logistic regression to estimate the relative death risk from NI after adjusting for comorbidities, severity of the underlying disease, and all other confounding factors. The adjusted population-attributable risk was assessed using the Mantel-Haenszel method. RESULTS: We recruited 1,914 patients with NI and 5,172 patients without NI. The median age of the patients with NI was 73 years; 1,045 (54.6%) were female. NI was associated with death within 60 days (adjusted odds ratio, 1.7 [95% confidence interval {CI}, 1.4-;2.2]; P<.001). The adjusted population-attributable risk of death for all sites of infection was 1.7% (95% CI, 1.4-2.1). If we consider the NI incidence to be 3%-6% in French hospitals, the population-attributable risk of death from NI would range from 2.1% (95% CI, 1.7%-2.5%) to 4.0% (95% CI, 3.3%-4.9%). CONCLUSION: In this study, NI appeared to have a significant impact on mortality. Multicenter studies will be needed to confirm these results.


Assuntos
Infecção Hospitalar/mortalidade , Mortalidade Hospitalar , Hospitais Universitários , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Infecção Hospitalar/epidemiologia , Feminino , França/epidemiologia , Humanos , Incidência , Tempo de Internação , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco
13.
Diabetes Care ; 17(9): 955-60, 1994 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7988315

RESUMO

OBJECTIVE: To determine the incidence of insulin-dependent diabetes mellitus (IDDM) in Switzerland by undertaking a retrospective analysis of the registry of the Swiss army, which contains updated medical files for all male Swiss citizens. Nation-wide data for IDDM epidemiology have not been available in Switzerland. RESEARCH DESIGN AND METHODS: Every male Swiss citizen is obliged to enlist in the Swiss military service at 19 years of age, when a personal, continuously updated medical file is established. Diabetes is an exclusion condition for military service and is clearly marked in the file. A total number of 514,747 files, corresponding to birth year cohorts 1948-1950, 1955-1957, 1962-1964, and 1970-1972, have been manually checked for the diagnosis of IDDM. RESULTS: IDDM was identified in 926 cases in the four groups of three age-cohorts. The incidence at < or = 15 years (per 100,000/year) was 4.5 in the age cohorts 1948-1950 and 7.2 in the age cohorts 1970-1972 (P < 0.005). An additive age-cohort Poisson regression model fits the nationwide incidences adequately, neither a period effect nor age x cohort interactions being required. In the oldest age cohorts, the age-specific incidence of IDDM was calculated up to the age of 43 and was approximately 7/100,000/year in men between 20 and 40. In these age cohorts, we found an approximately 50% higher risk to develop IDDM at age < or = 19 for men living in an urban region and a significantly (P < 0.005) increased incidence between 20 and 40 years in rural regions compared with urban regions. CONCLUSIONS: The incidence of IDDM in Switzerland is comparable to other countries in central Europe and has been increasing in the last 20 years. This is in accordance to most recent epidemiological studies worldwide. In addition, the data suggest exogenous factors inducing IDDM at a younger age in urban regions.


Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Adolescente , Adulto , Criança , Estudos de Coortes , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Militares , Sistema de Registros , Estatística como Assunto , Suíça/epidemiologia
14.
Hum Mutat ; 20(4): 298-304, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12325025

RESUMO

We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing. We found three different mutations among five families. Two unrelated subjects shared the same de novo missense substitution in exon 13 (S502T); an additional two unrelated families had a mutation in exon 3 (Y63C); and one subject had the amino acid substitution Y62D, also in exon 3. None of the three mutations were present in ethnically matched controls. In the mature protein model, the exon 3 mutants and the exon 13 mutant amino acids cluster at the interface between the N' SH2 domain and the phosphatase catalytic domain. Six of eight subjects with PTPN11/SHP2 mutations had pulmonary valve stenosis while no mutations were identified in those subjects (N = 4) with hypertrophic cardiomyopathy. An additional four subjects with possible Noonan syndrome were evaluated, but no mutations in PTPN11/SHP2 were identified. These results confirm that mutations in PTPN11/SHP2 underlie a common form of Noonan syndrome, and that the disease exhibits both allelic and locus heterogeneity. The observation of recurrent mutations supports the hypothesis that a special class of gain-of-function mutations in SHP2 give rise to Noonan syndrome.


Assuntos
Análise Mutacional de DNA/métodos , Éxons/genética , Mutação/genética , Síndrome de Noonan/enzimologia , Síndrome de Noonan/genética , Proteínas Tirosina Fosfatases/genética , Domínio Catalítico/genética , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Isoenzimas/genética , Masculino , Fenótipo , Estrutura Quaternária de Proteína/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11 , Proteínas Tirosina Fosfatases/química , Recidiva , Proteínas Tirosina Fosfatases Contendo o Domínio SH2 , Domínios de Homologia de src/genética
15.
Am J Clin Nutr ; 63(5): 717-21, 1996 May.
Artigo em Inglês | MEDLINE | ID: mdl-8615354

RESUMO

Biochemical vitamin E deficiency and low plasma lipids are frequent findings in patients with cystic fibrosis (CF). The response to a single oral dose of all-rac-alpha-tocopheryl acetate [100 IU (100 mg)/kg body wt] was studied over 24 h in 25 CF patients with exocrine pancreatic insufficiency and in 23 healthy individuals. Patients received pancreatic enzymes together with the vitamin E test dose. At baseline, plasma alpha-tocopherol concentrations correlated with cholesterol concentrations; both were lower in patients than in control subjects, as were erythrocyte alpha-tocopherol concentrations (all P < 0.0001). Plasma and erythrocyte alpha-tocopherol concentrations were significantly higher than baseline concentrations from 3 and 6 h onward, respectively, and peaked most frequently at 6 and 12 h, respectively, in both patients and control subjects. Maximum increases and areas under the concentration time curves for plasma alpha-tocopherol concentrations were smaller in patients than in control subjects (P < 0.0001). When ratios of plasma alpha-tocopherol to cholesterol (to correct for differences in cholesterol concentrations) or erythrocyte alpha-tocopherol concentrations were applied, patients were shown to respond as efficiently as control subjects. On the basis of these results, we recommend vitamin E supplements in doses high enough to achieve vitamin E status in CF patients well within the range of healthy individuals; these supplements should be given with appropriate amounts of pancreatic enzymes. However, for long-term supplementation much lower doses than those used in this test situation may be sufficient.


Assuntos
Antioxidantes/farmacocinética , Colesterol/sangue , Fibrose Cística/sangue , Vitamina E/análogos & derivados , Vitamina E/sangue , alfa-Tocoferol/análogos & derivados , Absorção , Administração Oral , Adulto , Antioxidantes/administração & dosagem , Antioxidantes/uso terapêutico , Transporte Biológico , Criança , Fibrose Cística/complicações , Fibrose Cística/metabolismo , Relação Dose-Resposta a Droga , Eritrócitos/metabolismo , Feminino , Humanos , Lipase/uso terapêutico , Lipídeos/sangue , Masculino , Extratos Pancreáticos/uso terapêutico , Pancrelipase , Tocoferóis , Vitamina E/administração & dosagem , Vitamina E/farmacocinética , Vitamina E/uso terapêutico , Deficiência de Vitamina E/sangue , Deficiência de Vitamina E/tratamento farmacológico , Deficiência de Vitamina E/etiologia
16.
Am J Med Genet ; 91(4): 298-304, 2000 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-10766987

RESUMO

Phenotypic variability in children with Prader-Willi syndrome (PWS) was investigated with respect to variable expression of the contiguous gene syndrome and trait variance. In a prospective study, parent/child resemblance of anthropometric and psychometric measures was analyzed in 22 children with PWS (11 females and 11 males; 18 deletions, 4 uniparental disomy (UPD)) and in a control group (88 females and 88 males). The average child-midparent Z-score difference for height in females was -1.9 and in males -0.9, head circumference -1.7 and -1.0, and body mass index (BMI) 2.3 and 2.7, respectively. Intellectual performance of females and males was, on average, -2.7 and -2.6 below maternal performance. Range and standard deviation were moderately increased for height and head circumference, doubled for BMI, and unchanged for IQ. Parent/child correlations for anthropometric and psychometric measurements in the study group did not significantly differ from those of the control group. Exceptions were higher correlations between mothers and daughters for height (P < 0.05) and BMI (P < 0.01), and lower correlations for head circumference between midparent values and daughters (P < 0.05) than in the control group. In conclusion, parent-child resemblance in growth and intellectual development among children with PWS was found to be comparable to that noted in the normal population, indicating a strong determination by trait variance. Children with PWS differed significantly with respect to a lower trait level and-with the exception of IQ-a larger variability. The latter may indicate a variable expression of the contiguous gene syndrome.


Assuntos
Regulação da Expressão Gênica no Desenvolvimento , Heterogeneidade Genética , Variação Genética/genética , Inteligência/genética , Núcleo Familiar , Síndrome de Prader-Willi/genética , Adolescente , Adulto , Antropometria , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fenótipo , Síndrome de Prader-Willi/patologia , Estudos Prospectivos , Desempenho Psicomotor , Fatores Socioeconômicos
17.
Eur J Endocrinol ; 144(3): 213-20, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11248739

RESUMO

OBJECTIVE: Interpretation of thyroid ultrasonography for assessing goiter prevalence requires valid reference criteria from iodine-sufficient populations. Reports have suggested the current reference criteria for thyroid volume (T(vol)) of WHO/ICCIDD (International Council for the Control of Iodine Deficiency Disorders) may be too high. Our objective was to determine if inter-observer and/or inter-equipment variability contributes to the disagreement in sonographic T(vol) in children reported from iodine-sufficient areas. DESIGN: A 2-day workshop in which four experienced ultrasound examiners from around Europe measured T(vol) in 45 6--12-year-old Swiss schoolchildren using four different portable ultrasound machines. One of the participating examiners (observer A) had generated the T(vol) data in European children that are the basis for the WHO/ICCIDD reference criteria. METHODS: Sonographic T(vol) was measured in each child by all four examiners on all four machines. Six hundred and eighty-four examinations were completed, with examiners having no knowledge of one another's results. Inter-observer and inter-equipment variation was calculated. RESULTS: Mean inter-equipment variation in T(vol) was 15.2% (95% CI: 14.1, 16.3%). There were no significant differences in T(vol) between equipment (P=0.51). For all observers, the mean inter-observer variation in T(vol) was 25.6% (95% CI: 23.9, 27.2%). At all ages and all body surface areas, there was a large systematic measurement bias (+30% volume) between the mean T(vol) of observer A and the mean Tvol of observers B, C and D. Reanalysis using data from observers B, C and D reduced the mean inter-observer variation in T(vol) to 13.3% (95% CI: 11.9, 14.7%). A correction factor for the systematic difference of operator A for the P50 and P97 of T(vol) was estimated using analysis of covariance. When applied to the WHO/ICCIDD reference data, it sharply reduced the discrepancy between the WHO/ICCIDD criteria and those from other iodine-sufficient children around the world. CONCLUSIONS: Inter-equipment error contributes minimally to reported differences in sonographic T(vol). Even among experienced examiners, inter-observer variation in sonographic T(vol) in children can be high, and probably contributes to the current disagreement on normative values in iodine-sufficient children. A systematic bias at least partially explains why the WHO/ICCIDD reference data differ from those reported from other iodine-sufficient children around the world. The findings argue strongly for the standardization of methods used for sonographic measurement of T(vol) in children.


Assuntos
Iodo/metabolismo , Valores de Referência , Glândula Tireoide/anatomia & histologia , Glândula Tireoide/metabolismo , Criança , Feminino , Bócio/diagnóstico , Bócio/epidemiologia , Bócio/metabolismo , Bócio/patologia , Humanos , Iodo/deficiência , Masculino , Prevalência , Reprodutibilidade dos Testes , Suíça , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia , Organização Mundial da Saúde
18.
Ann Thorac Surg ; 70(6): 1931-4, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11156097

RESUMO

BACKGROUND: The persistence of DDD pacing is well documented in adults, however, in children survival of the DDD pacing mode is less clear. METHODS: We studied the survival of dual-chamber (DDD) pacing in 36 children aged 1 week to 16 years who underwent implantation of a dual-chamber pacing system between January 1986 and October 1998. The children were divided in the following two groups: 26 had epicardial pacing systems and 10 had endocardial pacing systems. RESULTS: During long-term follow-up 11 patients lost the DDD pacing mode. The DDD pacing survival rate at 3 months and 1, 2, and 5 years was 80%, 77%, 73%, and 69%, respectively. Age, weight, congenital heart disease, and epicardial pacing leads were not found to be risk factors for loss of DDD pacing mode. However, P-wave values of less than 2.5 mV at implantation of epicardial leads were associated with loss of the DDD pacing mode. CONCLUSIONS: The majority of children remain in the DDD pacing mode during long-term follow-up. A P-wave value of less than 2.5 mV at implantation of epicardial leads is a risk factor for loss of the DDD pacing mode.


Assuntos
Bloqueio Cardíaco/terapia , Marca-Passo Artificial , Adolescente , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Bloqueio Cardíaco/congênito , Bloqueio Cardíaco/mortalidade , Humanos , Lactente , Recém-Nascido , Masculino , Complicações Pós-Operatórias/mortalidade , Complicações Pós-Operatórias/terapia , Fatores de Risco , Taxa de Sobrevida , Resultado do Tratamento
19.
Ann Thorac Surg ; 68(4): 1380-3, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10543510

RESUMO

BACKGROUND: Permanent cardiac pacing in children results commonly in augmented energy consumption because of the high pacing rates and the ample stimulation safety margin applied in children. Cardiovascular anatomy and limited venous access sometimes preclude the otherwise preferred endocardial approach. In this multicenter patient series, we studied the feasibility, safety, and energy saving obtained by a combination of steroid-eluting epicardial leads with autocapture devices capable of ongoing adjustment of the stimulation output to the prevailing threshold. METHODS: Autocapture devices (Pacesetter Microny SR+/- and Regency SR+/-; Pacesetter, Solna, Sweden) and steroid-eluting epicardial pacing leads (Medtronic CapSure Epi 10366; Medtronic, Inc, Minneapolis, MN) were implanted in 14 children. Thresholds, telemetry data, evoked response, and polarization signals were obtained at discharge and follow-up, and battery service life was calculated. RESULTS: During a median follow-up of 6.5 months, autocapture pacing was applied in 12 of 14 children. The automatically adjusted pulse amplitude of autocapture devices demonstrated low-energy pacing with no significant changes between discharge and 6 months follow-up (1.1 +/- 0.3 versus 0.9 +/- 0.3 V). Autocapture-programmed pacemakers had calculated life spans of 7.8 +/- 1.4 years (Microny) and 21.0 +/- 1.6 years (Regency). No adverse effects were noted. CONCLUSIONS: Autocapture-controlled pacing with bipolar epicardial pacing leads is feasible and safe in children. Autocapture programming results in substantial energy savings and extends battery life markedly.


Assuntos
Microcomputadores , Marca-Passo Artificial , Criança , Pré-Escolar , Fontes de Energia Elétrica , Eletrocardiografia , Eletrodos Implantados , Endocárdio , Desenho de Equipamento , Análise de Falha de Equipamento , Estudos de Viabilidade , Feminino , Humanos , Lactente , Masculino , Pericárdio , Processamento de Sinais Assistido por Computador/instrumentação , Software
20.
Stat Methods Med Res ; 5(1): 67-99, 1996 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8743079

RESUMO

The quantitative analysis of the electroencephalogram (EEG) relies heavily on methods of time series analysis. A quantitative approach seems indispensable for research (be it clinical or basic neurophysical research), but it can also be a useful information for purely clinical purposes. Apart from the ongoing spontaneous EEG, evoked potentials (EPs) also play an important role. They can be elicited by simple sensory stimuli or more complex stimuli. Their analysis requires methods which are different from those for the spontaneous EEG. Those methods operate usually in the time domain and offer many challenging problems to statisticians. Methods for analysing the spontaneous EEG usually work in the frequency domain in terms of spectra and coherences. Biomedical engineers who take care of the equipment are usually also trained in time series analysis. Thus, they have contributed much more to methodological progress for analysing EEGs and EPs, compared with statisticians. However, the availability of a sample of subjects, and the associated problems in modelling followed by an inferential analysis could make a larger influence from the statistical side quite profitable. This paper tries to give an overview of a fascinating area. In doing so we treat more extensively problems with some statistical appeal. This leads inevitably to some overlap with our own work.


Assuntos
Interpretação Estatística de Dados , Eletroencefalografia/estatística & dados numéricos , Artefatos , Mapeamento Encefálico/instrumentação , Córtex Cerebral/fisiologia , Pré-Escolar , Eletroencefalografia/instrumentação , Potenciais Evocados/fisiologia , Feminino , Análise de Fourier , Humanos , Masculino , Modelos Estatísticos , Processamento de Sinais Assistido por Computador/instrumentação
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