scholarly journals Age and sex prevalence estimate of Joubert syndrome in Italy

Neurology ◽  
2020 ◽  
Vol 94 (8) ◽  
pp. e797-e801 ◽  
Author(s):  
Sara Nuovo ◽  
Ilaria Bacigalupo ◽  
Monia Ginevrino ◽  
Roberta Battini ◽  
Enrico Bertini ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Population Based ◽  
Age At Diagnosis ◽  
Chronological Age ◽  
Genetic Profile ◽  
Prevalence Rates ◽  
Male Specific ◽  
Next Generation Sequencing Ngs ◽  
Age Range ◽  
Age And Sex

ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.ResultsWe identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41–0.53), 0.41 (95% CI 0.32–0.49), and 0.53 (95% CI 0.45–0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49–1.97), 1.62 (95% CI 1.31–1.99), and 1.80 (95% CI 1.49–2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r2 = 0.79; p < 0.001).ConclusionsWe estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients’ genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.

Ten-Year Survival and Age at Diagnosis of Women with Breast Cancer from a Population-Based Study in Umbria, Italy

1996 ◽  
Vol 82 (5) ◽  
pp. 441-443 ◽  
Author(s):  
Francesco La Rosa ◽  
Vincenzo Michele Patavino ◽  
Anna Cristina Epifani ◽  
Anna Maria Petrinelli ◽  
Liliana Minelli ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ad Hoc ◽  
Central Italy ◽  
Relative Survival ◽  
Population Based ◽  
Age At Diagnosis ◽  
Population Based Study ◽  
Age Range ◽  
Incident Cases

We analyzed the 10-year survival of 1,512 women with breast cancer in relation to age at diagnosis. The incident cases were from an ad hoc investigation in Umbria, a region of central Italy, for the period 1978-1982. The follow-up was carried out by an automatic link with the RENCAM (Nominative register of causes of death) and verified at the Registrar's Offices of the various towns of the region. Observed survival at 1 year was 0.89, at 3 years 0.75, at 5 years 0.64 and at 10 years 0.47. Median survival was 9.0 years. Relative survival at 1, 3, 5, 10 years was respectively 0.91, 0.79, 0.71 and 0.59. Women <35 years of age had a better prognosis both at 5 (0.83) and 10 years (0.69) from diagnosis. Thereafter, survival decreased with increasing age. The exception to this trend was women in the 45-49 and 60-64 year age ranges, for which survival was greater than the previous age range classes by 6% and 13%, respectively, at 5 years from diagnosis and 6% and 14% at 10 years. Comparison of data from Umbria and Italian and European Registries shows that the prognosis for Umbrian women with breast cancer is quite good.

scholarly journals Folate and Cobalamin Serum Levels in Healthy Children and Adolescents and Their Association with Age, Sex, BMI and Socioeconomic Status

Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 546
Author(s):  
Paulina Kreusler ◽  
Mandy Vogel ◽  
Anja Willenberg ◽  
Ronny Baber ◽  
Yvonne Dietz ◽  
...  
Keyword(s):  
Socioeconomic Status ◽  
Children And Adolescents ◽  
Serum Levels ◽  
Population Based ◽  
Research Centre ◽  
Healthy Children ◽  
Serum Samples ◽  
Lms Method ◽  
Healthy Participants ◽  
Age And Sex

This study proposes age- and sex-specific percentiles for serum cobalamin and folate, and analyzes the effects of sex, age, body mass index (BMI), and socioeconomic status (SES) on cobalamin and folate concentrations in healthy children and adolescents. In total, 4478 serum samples provided by healthy participants (2 months–18.0 years) in the LIFE (Leipzig Research Centre for Civilization Diseases) Child population-based cohort study between 2011 and 2015 were analyzed by electrochemiluminescence immunoassay (ECLIA). Continuous age-and sex-related percentiles (2.5th, 10th, 50th, 90th, 97.5th) were estimated, applying Cole’s LMS method. In both sexes, folate concentrations decreased continuously with age, whereas cobalamin concentration peaked between three and seven years of age and declined thereafter. Female sex was associated with higher concentrations of both vitamins in 13- to 18-year-olds and with higher folate levels in one- to five-year-olds. BMI was inversely correlated with concentrations of both vitamins, whilst SES positively affected folate but not cobalamin concentrations. To conclude, in the assessment of cobalamin and folate status, the age- and sex-dependent dynamic of the respective serum concentrations must be considered. While BMI is a determinant of both vitamin concentrations, SES is only associated with folate concentrations.

scholarly journals Mortality in Escherichia coli bloodstream infections: a multinational population-based cohort study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Melissa C. MacKinnon ◽  
Scott A. McEwen ◽  
David L. Pearl ◽  
Outi Lyytikäinen ◽  
Gunnar Jacobsson ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Mortality Rate ◽  
Case Fatality ◽  
Population Based ◽  
Day Case ◽  
Fatality Risk ◽  
E Coli ◽  
Factors Associated ◽  
Case Fatality Risk ◽  
Age And Sex

Abstract Background Escherichia coli is the most common cause of bloodstream infections (BSIs) and mortality is an important aspect of burden of disease. Using a multinational population-based cohort of E. coli BSIs, our objectives were to evaluate 30-day case fatality risk and mortality rate, and determine factors associated with each. Methods During 2014–2018, we identified 30-day deaths from all incident E. coli BSIs from surveillance nationally in Finland, and regionally in Sweden (Skaraborg) and Canada (Calgary, Sherbrooke, western interior). We used a multivariable logistic regression model to estimate factors associated with 30-day case fatality risk. The explanatory variables considered for inclusion were year (2014–2018), region (five areas), age (< 70-years-old, ≥70-years-old), sex (female, male), third-generation cephalosporin (3GC) resistance (susceptible, resistant), and location of onset (community-onset, hospital-onset). The European Union 28-country 2018 population was used to directly age and sex standardize mortality rates. We used a multivariable Poisson model to estimate factors associated with mortality rate, and year, region, age and sex were considered for inclusion. Results From 38.7 million person-years of surveillance, we identified 2961 30-day deaths in 30,923 incident E. coli BSIs. The overall 30-day case fatality risk was 9.6% (2961/30923). Calgary, Skaraborg, and western interior had significantly increased odds of 30-day mortality compared to Finland. Hospital-onset and 3GC-resistant E. coli BSIs had significantly increased odds of mortality compared to community-onset and 3GC-susceptible. The significant association between age and odds of mortality varied with sex, and contrasts were used to interpret this interaction relationship. The overall standardized 30-day mortality rate was 8.5 deaths/100,000 person-years. Sherbrooke had a significantly lower 30-day mortality rate compared to Finland. Patients that were either ≥70-years-old or male both experienced significantly higher mortality rates than those < 70-years-old or female. Conclusions In our study populations, region, age, and sex were significantly associated with both 30-day case fatality risk and mortality rate. Additionally, 3GC resistance and location of onset were significantly associated with 30-day case fatality risk. Escherichia coli BSIs caused a considerable burden of disease from 30-day mortality. When analyzing population-based mortality data, it is important to explore mortality through two lenses, mortality rate and case fatality risk.

scholarly journals Excess burden of age-associated comorbidities among people living with HIV in British Columbia, Canada: a population-based cohort study

BMJ Open ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. e041734
Author(s):  
Ni Gusti Ayu Nanditha ◽  
Adrianna Paiero ◽  
Hiwot M Tafessu ◽  
Martin St-Jean ◽  
Taylor McLinden ◽  
...  
Keyword(s):  
British Columbia ◽  
Cohort Study ◽  
Population Based ◽  
Age At Diagnosis ◽  
Secondary Outcome ◽  
People Living With Hiv ◽  
Prevalence Trends ◽  
Living With Hiv ◽  
Negative Controls ◽  
Hiv Negative

ObjectivesAs people living with HIV (PLWH) live longer, morbidity and mortality from non-AIDS comorbidities have emerged as major concerns. Our objective was to compare prevalence trends and age at diagnosis of nine chronic age-associated comorbidities between individuals living with and without HIV.Design and settingThis population-based cohort study used longitudinal cohort data from all diagnosed antiretroviral-treated PLWH and 1:4 age-sex-matched HIV-negative individuals in British Columbia, Canada.ParticipantsThe study included 8031 antiretroviral-treated PLWH and 32 124 HIV-negative controls (median age 40 years, 82% men). Eligible participants were ≥19 years old and followed for ≥1 year during 2000 to 2012.Primary and secondary outcome measuresThe presence of non-AIDS-defining cancers, diabetes, osteoarthritis, hypertension, Alzheimer’s and/or non-HIV-related dementia, cardiovascular, kidney, liver and lung diseases were identified from provincial administrative databases. Beta regression assessed annual age-sex-standardised prevalence trends and Kruskal-Wallis tests compared the age at diagnosis of comorbidities stratified by rate of healthcare encounters.ResultsAcross study period, the prevalence of all chronic age-associated comorbidities, except hypertension, were higher among PLWH compared with their community-based HIV-negative counterparts; as much as 10 times higher for liver diseases (25.3% vs 2.1%, p value<0.0001). On stratification by healthcare encounter rates, PLWH experienced most chronic age-associated significantly earlier than HIV-negative controls, as early as 21 years earlier for Alzheimer’s and/or dementia.ConclusionsPLWH experienced higher prevalence and earlier age at diagnosis of non-AIDS comorbidities than their HIV-negative controls. These results stress the need for optimised screening for comorbidities at earlier ages among PLWH, and a comprehensive HIV care model that integrates prevention and treatment of chronic age-associated conditions. Additionally, the robust methodology developed in this study, which addresses concerns on the use of administrative health data to measure prevalence and incidence, is reproducible to other settings.

scholarly journals Intravenous Immunoglobulin Treatment in Kawasaki Disease Decreases the Incidence of Myopia

2021 ◽  
Vol 10 (7) ◽  
pp. 1381
Author(s):  
Hun-Ju Yu ◽  
Meng-Ni Chuang ◽  
Chiao-Lun Chu ◽  
Pei-Lin Wu ◽  
Shu-Chen Ho ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Intravenous Immunoglobulin ◽  
Systemic Vasculitis ◽  
Age Distribution ◽  
Population Based ◽  
Research Database ◽  
Ocular Manifestations ◽  
Missing Data Treatment ◽  
The Difference ◽  
Age Range

Kawasaki disease (KD) is a systemic vasculitis that primarily affects children under the age of 5 years old. The most significant complication is coronary artery lesions, but several ocular manifestations have also been reported. Recently, one study revealed an increasing incidence of myopia among KD patients. Therefore, the aim of this study was to assess the difference in myopic incidence between Kawasaki disease (KD) patients treated with aspirin and intravenous immunoglobulin (IVIG). Materials and methods: We carried out a nationwide retrospective cohort study by analyzing the data of KD patients (ICD-9-CM code 4461) from Taiwan’s National Health Insurance Research Database (NHIRD) during the period of 1996–2013. Results: A total of 14,102 diagnosed KD were found in Taiwan during the study period. After excluded missing data, treatment strategy and age distribution, a total of 1446 KD patients were enrolled for analysis including 53 of which received aspirin (without IVIG) and 1393 of which were treated with IVIG. Patients who had myopia, astigmatism, glaucoma, cataract, etc. prior to their KD diagnosis were excluded. The age range was 0 to 6 years old. According to the cumulative curves, our results demonstrated that the myopic incidence in the IVIG group was significantly lower than the aspirin group (hazard ratio: 0.59, 95% confidence intervals: 0.36~0.96, p = 0.02). Treatment with IVIG for KD patients may have benefit for myopia control. Conclusion: Compared to aspirin, IVIG may decrease the myopic risk in KD patients. However, it needs further investigation including clinical vision survey of myopia due to the limitations of this population-based study.

scholarly journals Can National Tests from the Last Year of Compulsory School Be Used to Obtain More Detailed Information about Academic Performance in Children Treated for Brain Tumours? A Nationwide, Population-Based Study from Sweden

Cancers ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 135
Author(s):  
Malin Lönnerblad ◽  
Eva Berglund ◽  
Ingrid van’t Hooft ◽  
Klas Blomgren
Keyword(s):  
Academic Performance ◽  
Oral Reading ◽  
Brain Tumours ◽  
Mother Tongue ◽  
Strong Predictor ◽  
Population Based ◽  
Late Complications ◽  
Age At Diagnosis ◽  
Tumour Grade ◽  
National Tests

Children treated for brain tumours often have late-appearing complications that may affect their school performance. Uneven skill profiles may help reveal late complications that can be compensated for but otherwise remain undetected. We investigated Swedish national school tests of oral, reading and writing skills in the first foreign language (English), the mother tongue (Swedish) and mathematics. Data were obtained from The Swedish Childhood Cancer Registry and Statistics Sweden. The results from 475 children diagnosed with a brain tumour before their 15th birthday and 2197 matched controls showed that children treated for brain tumours evinced more difficulties with national tests than controls in almost all subtests, especially in the subject English, and that they may perform better on oral than written tasks. There were larger differences between female cases and controls than between male cases and controls; age at diagnosis played a significant role for some subtests, whereas tumour grade did not. Missing information from national tests proved to be a strong predictor of poor academic performance. Our results show that regular educational follow-ups, as a complement to neuropsychological follow-ups, are important for all children treated for brain tumours, regardless of sex, age at diagnosis or tumour grade.

Youthful and Older Biases as Special Cases of a Self-Age Optimization Bias

1996 ◽  
Vol 43 (4) ◽  
pp. 267-276 ◽  
Author(s):  
Sara Staats
Keyword(s):  
College Students ◽  
Older Persons ◽  
Older Age ◽  
Chronological Age ◽  
Subjective Age ◽  
Special Cases ◽  
Age Range

Two concepts of subjective age are measured for two cohorts (college students and older persons with an age range of 50 to 91 years). Functional age (Kastenbaum et al., 1972 Ages-of-Me Scale [1]) shows the typical youthful bias for the older cohort. An older bias is shown for the Best/Ideal Age by the older cohort in comparison to the younger cohort. Taken together, the youthful bias, being like someone of younger chronological age, and the bias of selecting a relatively older age as best represents a “Self Age Optimization Bias.” A sub-set of Best Age items dealing with work and career are identified for gender and cohort comparisons.

scholarly journals The Natural History and Outcomes of the Patients with Carcinosarcoma Involving Kidney and Renal Pelvis

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Jue Wang ◽  
Fen Wei Wang ◽  
Anne Kessinger
Keyword(s):  
Natural History ◽  
Renal Pelvis ◽  
Histological Grade ◽  
Tumor Stage ◽  
Population Based ◽  
Age At Diagnosis ◽  
Cancer Specific Survival ◽  
Entire Cohort ◽  
Undifferentiated Histology ◽  
Almost All

Background. The objective of this paper was to examine the epidemiology, natural history, and prognostic factors of carcinosarcoma of the kidney and renal pelvis (CSKP) using population-based registry.Patients and Methods. Forty-three patients with CSKP, diagnosed between January 1973 and December 2007, were identified from the national Surveillance, Epidemiology, and End Results (SEER) database and reviewed.Results. 79% of all patients with known SEER stage were classified as having regional or distant stage; almost all the patients with known histology grade had poorly or undifferentiated histology. The median cancer specific survival was 6 months (95% CI 4–9). The 1-year cancer-specific survival rate for entire cohort was 30.2%. There were no differences in terms of age at diagnosis, histological grade, tumor stage on presentation, and frequency of nephrectomy between carcinosarcoma of kidney (CSK) or renal pelvis (CSP). In multivariate analysis, age at diagnosis, tumor stage, and year of diagnosis were found to be significant predictors for cancer-specific survival.Conclusion. CSKP commonly presented as high-grade, advanced stage disease, and was associated with a poor prognosis regardless of location.

scholarly journals Epidemiologic trends of infants with orofacial clefts in a multiethnic country: a retrospective population-based study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mimi Yow ◽  
Aizhen Jin ◽  
George Seow Heong Yeo
Keyword(s):  
Mortality Rate ◽  
Infant Mortality ◽  
Population Based ◽  
Infant Mortality Rate ◽  
Prevalence Rates ◽  
Upward Trend ◽  
Significance Level ◽  
Significant Upward Trend ◽  
And Gender ◽  
Ethnicity And Gender

AbstractCleft births surveillance is essential in healthcare and prevention planning. Data are needed in precision medicine to target upstream management for at-risk individuals. This study characterizes Singapore’s population-based orofacial cleft topography by ethnicity and gender, and establishes the cleft cohort’s infant mortality rate. Data, in the decade 2003 to 2012, were extracted by the National Birth Defects Registry. Trend testing by linear regression was at p < 0.05 significance level. Prevalence per 10,000 for population-based cleft live births was 16.72 with no significant upward trend (p = 0.317). Prevalence rates were 8.77 in the isolated cleft group, 7.04 in the non-isolated cleft group, and 0.91 in the syndromic cleft group. There was significant upward trend in infants with non-isolated clefts (p = 0.0287). There were no significant upward trends in infants with isolated clefts and syndromic clefts. Prevalence rates were sexually dimorphic and ethnic-specific: male 17.72; female 15.78; Chinese group 17.17; Malay group 16.92; Indian group 10.74; and mixed ethnic origins group 21.73. The overall infant mortality rate (IMR) was 4.8% in the cohort of 608 cleft births, which was more than double the population-based IMR of 2.1% in the same period. Infants with non-isolated and syndromic clefts accounted for 96.6% of the deaths.

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