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Students with chronic conditions (CC) tend to experience several barriers in terms of their school participation and performance. Therefore, the present study aims to explore the factors related to the time of diagnosis of CC (recent/non-recent), the barriers to participation and academic success (health condition, people's attitude towards CC and school physical environment), the physical and mental health (physical/psychological symptoms and concerns) and school-related variables (relationship with teachers and peers), regarding the school participation of first-year students with CC. This work is part of the HOUSE-Colégio F3 Project, University of Lisbon, which includes 1143 first-year university students from 17 Faculties and Institutes of the University of Lisbon. In this specific study, only the subsample of 207 students with CC was considered, 72.4% of which were female, aged between 18 and 54 years (M = 20.00; SD = 4.83). The results showed that students with a recent diagnosis of CC and students with school participation affected by the CC were those who presented more negative indicators regarding barriers to school participation, physical and mental health, and school-related variables. A greater impact of CC in terms of school participation was associated with having a recent diagnosis, with people's attitude towards CC and with the health condition as barriers, with more psychological symptoms and worse relationships with teachers and peers. This is a relevant message for the organization of health services for students with CC at the beginning of their university studies, especially since they are often displaced from home and managing their health conditions alone (in many cases, for the first time). [ABSTRACT FROM AUTHOR]

Students with chronic conditions (CC) tend to experience several barriers in terms of their school participation and performance. Therefore, the present study aims to explore the factors related to the time of diagnosis of CC (recent/non-recent), the barriers to participation and academic success (health condition, people’s attitude towards CC and school physical environment), the physical and mental health (physical/psychological symptoms and concerns) and school-related variables (relationship with teachers and peers), regarding the school participation of first-year students with CC. This work is part of the HOUSE-Colégio F3 Project, University of Lisbon, which includes 1143 first-year university students from 17 Faculties and Institutes of the University of Lisbon. In this specific study, only the subsample of 207 students with CC was considered, 72.4% of which were female, aged between 18 and 54 years (M = 20.00; SD = 4.83). The results showed that students with a recent diagnosis of CC and students with school participation affected by the CC were those who presented more negative indicators regarding barriers to school participation, physical and mental health, and school-related variables. A greater impact of CC in terms of school participation was associated with having a recent diagnosis, with people’s attitude towards CC and with the health condition as barriers, with more psychological symptoms and worse relationships with teachers and peers. This is a relevant message for the organization of health services for students with CC at the beginning of their university studies, especially since they are often displaced from home and managing their health conditions alone (in many cases, for the first time).

Recent research indicates that people's healthy behaviors depend on multiple factors, most notably psychological ones. This is particularly important in the case of people with cancer since part of their evolution derives from these behaviors. The present study had as objectives: 1) explore the relationship between resilience and optimism with healthy behaviors and 2) identify the possible differences of these variables from the time of diagnosis in cancer patients. For this, 196 patients participated (men and women) whose diagnosis time was variable and who responded voluntarily, confidentially and anonymously to the Resilience Scale, the Optimism Scale, and the Healthy Behavior Index. The results show that the ability to achieve goals and organize, confidence in the treatment, family support, positive attitude, self-efficacy, self-confidence and hope helped the patient to develop healthy habits and not fall into risky behaviors. On the other hand, there were observed differences from time of diagnosis in strength, social support, positive attitude, internal control, and caring behaviors, due to the different emotions experienced in each stage, such as depression, uncertainty, or stress. [ABSTRACT FROM AUTHOR]

Background: Time of diagnosis (TOD) of benign esophageal perforation is regarded as an important risk factor for clinical outcome, although convincing evidence is lacking. The aim of this study is to assess whether time between onset of perforation and diagnosis is associated with clinical outcome in patients with iatrogenic esophageal perforation (IEP) and Boerhaave's syndrome (BS). Methods: We searched MEDLINE, Embase and Cochrane library through June 2018 to identify studies. Authors were invited to share individual patient data and a meta-analysis was performed (PROSPERO: CRD42018093473). Patients were subdivided in early (≤ 24 h) and late (> 24 h) TOD and compared with mixed effects multivariable analysis while adjusting age, gender, location of perforation, initial treatment and center. Primary outcome was overall mortality. Secondary outcomes were length of hospital stay, re-interventions and ICU admission. Results: Our meta-analysis included IPD of 25 studies including 576 patients with IEP and 384 with BS. In IEP, early TOD was not associated with overall mortality (8% vs. 13%, OR 2.1, 95% CI 0.8–5.1), but was associated with a 23% decrease in ICU admissions (46% vs. 69%, OR 3.0, 95% CI 1.2–7.2), a 22% decrease in re-interventions (23% vs. 45%, OR 2.8, 95% CI 1.2–6.7) and a 36% decrease in length of hospital stay (14 vs. 22 days, p < 0.001), compared with late TOD. In BS, no associations between TOD and outcomes were found. When combining IEP and BS, early TOD was associated with a 6% decrease in overall mortality (10% vs. 16%, OR 2.1, 95% CI 1.1–3.9), a 19% decrease in re-interventions (26% vs. 45%, OR 1.9, 95% CI 1.1–3.2) and a 35% decrease in mean length of hospital stay (16 vs. 22 days, p = 0.001), compared with late TOD. Conclusions: This individual patient data meta-analysis confirms the general opinion that an early (≤ 24 h) compared to a late diagnosis (> 24 h) in benign esophageal perforations, particularly in IEP, is associated with improved clinical outcome. [ABSTRACT FROM AUTHOR]

The aim of this study was to estimate the childhood prevalence of achondroplasia, trends over time in birth prevalence, and age at diagnosis in Australia. Children born between 1990 and 2019 with a clinical and radiological and/or molecular diagnosis of achondroplasia were identified from a tertiary hospital servicing New South Wales (NSW) and the Australian Capital Territory (ACT) and compared with population data from the Australian Bureau of Statistics. Childhood prevalence of achondroplasia, based on children ≤19 years of age and resident in NSW/ACT on June 30, 2019 (n = 109), was 5.2 per 100,000. A total of 127 individuals with achondroplasia were born in 1990–2019 in NSW/ACT. Birth prevalence rates increased across birth decades, from 3.3 per 100,000 live births in 1990–1999 to 5.3 per 100,000 in 2010–2019 (p < 0.0001). Median age at diagnosis decreased to 17 days in 2010–2019 compared with 30 days in 1990–1999 (p = 0.035), although the overall decreasing trend across consecutive decades did not reach statistical significance. This is the first study to show a rising birth prevalence rate for achondroplasia in Australia with a concurrent decreasing age at diagnosis, both of which were statistically significant after 2 decades. [ABSTRACT FROM AUTHOR]

Objective: Cognitive complaints are more frequent in women with breast cancer (BC) than in healthy controls and can be present before any treatment. Findings regarding contributive factors remain inconsistent. This study aimed to identify different groups of patients with cognitive complaints at BC diagnosis and to determine whether these different groups were associated with demographic, medical, or psychological characteristics. Methods: Cognitive complaints were assessed in a subset of 264 women from the French multicenter prospective CANTO cohort, at baseline before any treatment. Clustering analyzes were performed using the six‐cognitive dimension Costa's scoring of the FACT‐Cog V3. Univariable analyses were used to study how cognitive function (standardized neuropsychological tests, ICCTF), anxiety, depression, fatigue, and quality of life (HADS, FA12, QLQ‐C30) were associated with specific cognitive complaints groups. Results: Results included 263 women (54±11 years), newly diagnosed with BC (69% stages I–III). Four distinct groups emerged, ranged from "no complaints" (22.8%), "low complaints" (55.1), "mixed complaints" (14.5%), to "consistent complaints" (7.6%). No significant differences were found in terms of demographic and medical factors between the four groups. However, the groups with higher proportions of patients with complaints were found to have more impairment in executive function, higher scores of anxiety, depressive symptoms, and fatigue, and lower quality of life, than the groups with lower proportions of cognitive complaints. Conclusion: Using complete cognitive assessment prior to BC treatment, we identified four distinct cognitive complaints groups with specific characteristics. This work provides valuable clinical basis to further investigations for a better understanding of cognitive complaints and their associates. [ABSTRACT FROM AUTHOR]

Copyright of Likarska Sprava is the property of J. Likarska Sprava and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: To quantify the health‐related quality of life (HRQoL) of patients with bladder cancer around the time of diagnosis and to test the hypotheses of a two‐factor model for the HRQoL questionnaire QLQ‐C30. Methods: From participants in the Bladder Cancer Prognoses Programme, a multicentre cohort study, sociodemographic data were collected using semi‐structured face‐to‐face interviews. Answers to the QLQ‐C30 were transformed into a scale from 0 to 100. HRQoL data were analysed in multivariate analyses. The hypothesized two‐factor (Physical and Mental Health) domain structure of the QLQ‐C30 was also tested with confirmatory factor analyses (CFA). Results: A total of 1160 participants (78%) completed the questionnaire after initial visual diagnosis and before pathological confirmation. Despite non‐muscle‐invasive bladder cancer (NMIBC) being associated with a higher HRQoL than carcinoma invading bladder muscle, only the domain Role Functioning was clinically significantly better in patients with NMIBC. Age, gender, bladder cancer stage and comorbidity all had a significant influence on QLQ‐C30 scores. The CFA showed an overall good fit of the hypothesized two‐factor model. Conclusion: This study identified a baseline reference value for HRQoL for patients with bladder cancer, which allows better evaluation of any changes in HRQoL as disease progresses or after treatment. In addition, a two‐factor (Physical and Mental Health) model was developed for the QLQ‐C30. [ABSTRACT FROM AUTHOR]

Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5–20), while the median age at diagnosis was 30 days (range 17–53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients. [ABSTRACT FROM AUTHOR]

Copyright of HNO is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Adult-onset dystonia (AOD) may manifest in focal forms (as blepharospasm, oromandibular dystonia, cervical dystonia, laryngeal dystonia, and hand dystonia) or in segmental forms. Time from onset of dystonia to diagnosis can be an indicator of the quality of care received during the diagnosis of AOD, likely reflecting factors associated with both the patient and their health system. Three previously reported single-center studies showed that diagnosis of AOD may be delayed for several years. Here, we examined the time lapse between onset and diagnosis in patients with different forms of AOD from an Italian movement disorder center. We found the time lapse between dystonia onset and diagnosis was very long for patients who developed AOD before 1980; and even in the most recent years reaching a correct diagnosis required more than year in almost half of cases. Our results suggest that the delay in diagnosis of adult-onset focal and segmental dystonia has improved over time, but remains unacceptable. The findings are a promising indicator of improvements in care of this uncommon disorder. However, education of patients and doctors is still needed. [ABSTRACT FROM AUTHOR]