Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are ...dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.
We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.
Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.
ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.
•This article provides a systematic review of the available clinical evidence on ERT in adult male Fabry patients.•The patient population heterogeneity highlights the need for standardized reporting and population-specific guidelines.•ERT may slow down progression of cardiac and renal disease and has a positive effect on other outcomes.•Treatment effects can be optimized when ERT is started as early as possible before the onset of major organ damage.•Consolidated evidence suggests a dose effect of ERT.•Therapeutic goals for the treatment of Fabry disease with ERT help advance disease management.
Background
Child‐care services during early childhood provide opportunities for social interactions that may facilitate children's learning of acceptable social behaviors. Furthermore, they may ...reduce exposure to family adversity for some children. The aim of this study was to determine whether intensity of exposure to child‐care services prior to age 5 years has a beneficial effect on disruptive behavior problems during adolescence, and whether the effect is more pronounced for children from low socioeconomic families.
Methods
N = 1,588 participants from the Québec Longitudinal Study of Child Development were assessed 14 times from 5 months to 17 years. Intensity of child‐care exposure was measured from 5 months to 5 years of age. Main outcomes were self‐reported physical aggression and opposition from age 12 to 17 years. Family socioeconomic status (SES) was measured at 5 months. Factors explaining differences in child‐care use were controlled using propensity score weights (PSW).
Results
Children exposed to moderate‐intensity child‐care services (part‐time child‐care services before 1½ years and full time afterward) reported lower levels of physical aggression (d = −.11, p = .056) and opposition (d = −.14, p = .029) during adolescence compared to children exposed to low‐intensity child‐care services. A significant child care by SES interaction (p = .017) for physical aggression indicated that the moderate‐intensity child‐care effect was specific to children from low SES families (d = −.36, p = .002). No interaction with socioeconomic status was found for opposition.
Conclusions
Moderate‐intensity child‐care services from infancy to school entry may prevent disruptive behavior during adolescence, especially for disadvantaged children.
Due to the high prevalence of diabetes and its complications, evaluating the patient's quality of life is critical. EQ-5D-5L is a valid tool for assessing health-related quality of life (HRQOL) in ...chronic diseases, including diabetes. However, no psychometric measures have been validated in a Creole-speaking population. Therefore, this study aimed for the first time to validate and cross-culturally adapt Creole and French versions of EQ-5D-5L on Type II diabetes patients in Reunion Island.
The Creole translation and cross-cultural adaptation process were based on the EUROQOL methods. Internal consistency and construct validity were determined using confirmatory factor analysis (CFA) of EQ-5D-5L for both versions. CFA model for HRQOL and global fit measures were calculated based on the EQ-5D-5L items using the maximum likelihood (ML) method.
From November 2016 to October 2017, 148 patients were included in the Creole group and 152 in the French group. EQ-5D-5L measures were unidimensional for both versions. Cronbach's coefficient alpha was 0.76 for the Creole version and 0.81 for the French version in CFA models. The root mean square error of approximation (RMSEA) was 0.06 for the Creole version and 0.02 for the French version. The Comparative Fit Index (CFI) was closer to 1 for both versions. CFA models for both the Creole and French versions fit the data adequately.
Overall, our findings provided evidence that both the Creole and French versions of EQ-5D-5L are suitable for assessing HRQOL in diabetes patients in Reunion Island. However, further research could be done to investigate French-Creole differences concerning the perception of health status, and a cultural adaptation of the French version will be considered.
In studies on family therapy in Anorexia Nervosa, family relationships, as assessed by Expressed Emotion, have been associated with outcome. Our aim was to explore the contribution of Expressed ...Emotion as a predictor of 18-month outcome, above and beyond the usual predictive factors. Sixty adolescent girls suffering from Anorexia Nervosa and their parents were assessed at baseline and 18 months later. Levels of Expressed Emotion were evaluated in both parents with the Five-Minute Speech Sample. After controlling for treatment group and initial clinical status, high maternal Emotional Over-Involvement at baseline was significantly associated with better clinical state. More precisely, high maternal Emotional Over-Involvement was associated with higher nutritional status, lower eating disorder severity and fewer re-hospitalizations 18 months later. No associations were found with paternal levels of Expressed Emotion. Therefore, our study confirmed the importance of taking into account both maternal and paternal Expressed Emotion. Our results also underlined that high maternal Emotional Over-Involvement plays a positive role in the outcome of Anorexia Nervosa and needs to be explored further.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
A higher risk of suicidal ideation associated with self-report of Coronavirus Disease 2019 (COVID-19)-like symptoms or COVID-19 infection has been observed in cross-sectional studies, but evidence ...from longitudinal studies remains limited. The aims of this study were 2-fold: (1) to explore if self-reported COVID-19-like symptoms in 2020 were associated with suicidal ideation in 2021; (2) to explore if the association also existed when using a biological marker of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection in 2020.
A total of 52,050 participants from the French EpiCov cohort were included (median follow-up time = 13.7 months). In terms of demographics, 53.84% were women, 60.92% were over 45 years old, 82.01% were born in mainland France from parents born in mainland France, and 59.38% completed high school. COVID-19-like symptoms were defined as participant report of a sudden loss of taste/smell or fever alongside cough, shortness of breath, or chest oppression, between February and November 2020. Symptoms were self-reported at baseline in May 2020 and at the first follow-up in Autumn 2020. Serology-confirmed SARS-CoV-2 infection in 2020 was derived from Spike protein ELISA test screening in dried-blood-spot samples. Samples were collected from October 2020 to March 2021, with 94.4% collected in 2020. Suicidal ideation since December 2020 was self-reported at the second follow-up in Summer 2021. Associations of self-reported COVID-19-like symptoms and serology-confirmed SARS-CoV-2 infection in 2020 with suicidal ideation in 2021 were ascertained using modified Poisson regression models, weighted by inverse probability weights computed from propensity scores. Among the 52,050 participants, 1.68% 1.54% to 1.82% reported suicidal ideation in 2021, 9.57% 9.24% to 9.90% had a serology-confirmed SARS-CoV-2 infection in 2020, and 13.23% 12.86% to 13.61% reported COVID-19-like symptoms in 2020. Self-reported COVID-19-like symptoms in 2020 were associated with higher risks of later suicidal ideation in 2021 (Relative Riskipw 95% CI = 1.43 1.20 to 1.69), while serology-confirmed SARS-CoV-2 infection in 2020 was not (RRipw = 0.89 0.70 to 1.13). Limitations of this study include the use of a single question to assess suicidal ideation, the use of self-reported history of mental health disorders, and limited generalizability due to attrition bias.
Self-reported COVID-19-like symptoms in 2020, but not serology-confirmed SARS-CoV-2 infection in 2020, were associated with a higher risk of subsequent suicidal ideation in 2021. The exact role of SARS-CoV-2 infection with respect to suicide risk has yet to be clarified. Including mental health resources in COVID-19-related settings could encourage symptomatic individuals to care for their mental health and limit suicidal ideation to emerge or worsen.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
To compare response to antidepressants between randomized controlled trials (RCTs) and observational trials.
Published and unpublished studies (from 1989 to 2009) were searched for by 2 reviewers on ...Medline, the Cochrane library, Embase, clinicaltrials.gov, Current Controlled Trial, bibliographies and by mailing key organisations and researchers. RCTs and observational studies on fluoxetine or venlafaxine in first-line treatment for major depressive disorder reported in English, French or Spanish language were included in the main analysis. Studies including patients from a wider spectrum of depressive disorders (anxious depression, minor depressive episode, dysthymia) were added in a second analysis. The main outcome was the pre-/post-treatment difference on depression scales standardised to 100 (17-item or 21-item Hamilton Rating Scale for Depression or Montgomery and Åsberg Rating Scale) in each study arm. A meta-regression was conducted to adjust the comparison between observational studies and RCTs on treatment type, study characteristics and average patient characteristics. 12 observational studies and 109 RCTs involving 6757 and 11035 patients in 12 and 149 arms were included in the main analysis. Meta-regression showed that the standardised treatment response in RCTs is greater by a magnitude of 4.59 (2.61 to 6.56). Study characteristics were related to standardised treatment response, positively (study duration, number of follow-up assessments, outpatients versus inpatients, per protocol analysis versus intention to treat analysis) or negatively (blinded design, placebo design). At patient level, response increased with baseline severity and decreased with age. Results of the second analysis were consistent with this.
Response to antidepressants is greater in RCTs than in observational studies. Observational studies should be considered as a necessary complement to RCTs.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Medical advances in assisted reproductive technology have created new ways for transgender persons to become parents outside the context of adoption. The limited empirical data does not support the ...idea that trans-parenthood negatively impacts children's development. However, the question has led to lively societal debates making the need for evidence-based studies urgent. We aimed to compare cognitive development, mental health, gender identity, quality of life and family dynamics using standardized instruments and experimental protocols in 32 children who were conceived by donor sperm insemination (DSI) in French couples with a cisgender woman and a transgender man, the transition occurring before conception. We constituted two control groups matched for age, gender and family status. We found no significant difference between groups regarding cognitive development, mental health, and gender identity, meaning that neither the transgender fatherhood nor the use of DSI had any impact on these characteristics. The results of the descriptive analysis showed positive psycho-emotional development. Additionally, when we asked raters to differentiate the family drawings of the group of children of trans-fathers from those who were naturally conceived, no rater was able to differentiate the groups above chance levels, meaning that what children expressed through family drawing did not indicate cues related to trans-fatherhood. However, when we assessed mothers and fathers with the Five-Minute Speech Sample, we found that the emotions expressed by transgender fathers were higher than those of cisgender fathers who conceived by sex or by DSI. We conclude that the first empirical data regarding child development in the context of trans-parenthood are reassuring. We believe that this research will also improve transgender couple care and that of their children in a society where access to care remains difficult in this population. However, further research is needed with adolescents and young adults.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Suicide by adolescents and young adults is a major public health concern, and repetition of self-harm is an important risk factor for future suicide attempts.
Our purpose is to explore the ...perspective of adolescents directly involved in suicidal acts.
Qualitative study involving 16 purposively selected adolescents (sex ratio1 ∶ 1) from 3 different centers. Half had been involved in repeated suicidal acts, and the other half only one. Data were gathered through semistructured interviews and analyzed according to Interpretative Phenomenological Analysis.
We found five main themes, organized in two superordinate themes. The first theme (individual dimensions of the suicide attempt) describes the issues and explanations that the adolescents saw as related to themselves; it includes the subthemes: (1) negative emotions toward the self and individual impasse, and (2) the need for some control over their lives. The second main theme (relational dimensions of attempted suicide) describes issues that adolescents mentioned that were related to others and includes three subthemes: (3) perceived impasse in interpersonal relationships, (4) communication, and (5) revenge.
Adolescents involved in suicidal behavior are stuck in both an individual and a relational impasse from which there is no exit and no apparent way to reach the other. Revenge can bridge this gap and thus transforms personal distress into a relational matter. This powerful emotion has been neglected by both clinicians and researchers.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
To determine the relative contributions of genetic and environmental factors on daytime and nighttime continuous sleep duration at 6, 18, 30, and 48 months of age, and to identify different subgroups ...of children who followed different daytime and nighttime sleep duration trajectories and to investigate their etiology.
The current study included 995 twins (405 monozygotic and 586 dizygotic) of the Quebec Newborn Twin Study recruited from the birth records of the Quebec Statistics Institute. Daytime and nighttime sleep was assessed through maternal reports at 6, 18, 30, and 48 months of age. A semiparametric modeling strategy was used to estimate daytime and nighttime sleep duration trajectories. Quantitative genetic models were used to examine to what extent genetic and environmental factors influenced daytime and nighttime continuous sleep duration.
Genetic modeling analyses revealed environmental influences for all daytime sleep duration trajectories. In contrast, strong genetic influences were found for consolidated nighttime sleep duration (except at 18 months and for the short-increasing sleep duration trajectory).
This is the first indication that early childhood daytime sleep duration may be driven by environmental settings, whereas the variance in consolidated nighttime sleep duration is largely influenced by genetic factors with a critical environmental time-window influence at ∼18 months.
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