Exposure to stressful life events is common, and it is linked to increased psychological issues. As most likely people respond to stressors depending on environmental and genetic factors, we assessed ...in a twin study the association of some personal characteristics such as resilience and self-perception with anxiety, depression and stress in the late Covid pandemic period, to verify the underlying genetic and shared familial components. With this design, the strength of the associations was compared between individual-level and intrapair-level analyses. From June 2020 to December 2021, the Italian Twin Registry conducted a three-wave longitudinal study among adult twins using validated questionnaires, and 1,763 adult twins participated in the study (mean age 46 years, 67 % females, 70 % monozygotic). A regression-based within-pair differences model was applied to control for genetic and shared environmental confounding. Results showed that anxiety was linked negatively with resilience, social support and perceived health, and positively with risk perception and hypochondria. Depression was associated negatively with resilience, social support and perceived health, and positively with financial concern and hypochondria. Stress was associated negatively with resilience and perceived health, and positively with financial concern, risk perception and hypochondria. These results suggest potential etiological effects of the above-mentioned risk factors. While our findings need to be confirmed by longitudinal studies, they propose potential etiological models for mental disorders, indicating that addressing in the clinical practice factors such as self-perception, personality traits (resilience), environmental resources (social support), and comorbid disorders (hypochondria) could have therapeutic benefits while treating certain common mental disorders.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
During COVID-19 pandemic, Internal Medicine Units (IMUs) accounted for about 70% of patients hospitalized. Although a large body of data has been published regarding the so-called first wave of the ...pandemic, little is known about the characteristics and predictors of worse outcomes of patients managed in IMUs during the second wave.
We prospectively assessed demographics, comorbidities, treatment and outcomes, including ventilation support (VS) and death, in patients admitted to our IMU for SARS-CoV-2 between October 13th, 2020 and January 21st, 2021. Clinical evolution and biochemical testing 1, 7 and 14 days after COVID-19 diagnosis were recorded.
We studied 120 patients (M/F 56/64, age 71±14.5 years) admitted to our IMU. Most of them had at least one comorbidity (80%). Patients who died were older, more frequently underweight, affected by malignant neoplasms and on statin therapy compared to patients eventually discharged. Both worse outcome groups (VS and death) presented higher neutrophils, ferritin, IL-6 and lower total proteins levels than controls. Age was significantly associated with mortality but not with VS need. The multivariate analysis showed age and gender independent association of mortality with underweight, malignancy and antibiotics use at the admission. With regard to biochemical parameters, both unfavourable outcomes were positively associated with high WBC count, neutrophils, blood urea nitrogen and low serum total proteins.
Our study identified inflammation, underweight, malignancy and a marked catabolic state as the main predictors for worse outcomes in COVID-19 patients admitted to IMU during the so-called second wave of the pandemic.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Newborn screening program for congenital hypothyroidism (CH) adopting rescreening in at-risk neonates.
To estimate the concordance rate for CH in twin pairs discordant at the first screening; to ...verify whether long-term follow-up of healthy cotwins belonging to CH discordant pairs may be useful to diagnose thyroid hypofunction during development; to evaluate the importance of genetic and environmental influences on liability to permanent and transient CH.
Forty-seven screening discordant twin pairs were investigated. Proband was defined as the twin in the pair with a positive test at the first screening and a confirmed diagnosis of CH.
Seven screening discordant twin pairs became concordant for CH within the first month of life (pairwise concordance of 14.9%) because seven screening negative cotwins showed high TSH values when retested. During long-term follow-up (range, 3 to 21 years), hypothyroidism was diagnosed in two monozygotic screening negative cotwins at the age of 9 months and 12 years, respectively. Furthermore, the twin analysis showed that 95% of liability to transient CH was explained by genetic factors and 5% by environmental (unshared) factors, whereas 64% of phenotypic variance of permanent CH was explained by common environmental factors (shared during the fetal life) and 36% by unshared environmental factors.
This study showed that the introduction of rescreening permits the diagnosis of CH in a greater number of twins. It also showed the importance of long-term follow-up in both twins in the pair, and the role of nongenetic factors in the etiology of permanent CH.
The rapid spread of the new Coronavirus and the consequent restrictions to contain transmission generated an unprecedented psychological impact on the general population. The Italian Twin Registry ...performed a longitudinal study to investigate to what extent genetic and environmental influences contributed to changes in depressive symptoms.
Data from adult twins were collected. All participants completed an online questionnaire including the 2-item Patient Health Questionnaire (PHQ-2) just before (February 2020) and immediately after the Italian lockdown (June 2020). Genetic modeling based on Cholesky decomposition was used to estimate the role of genetic (A) and both shared (C) and unshared (E) environmental factors in the observed longitudinal course of depressive symptoms.
Longitudinal genetic analysis was based on 348 twin pairs (215 monozygotic and 133 dizygotic pairs) with a mean age of 42.6 years (range 18-93 years). An AE Cholesky model provided heritability estimates for depressive symptoms of 0.24 and 0.35 before and after the lockdown period, respectively. Under the same model, the observed longitudinal trait correlation (0.44) was approximately equally contributed by genetic (46%) and unshared environmental (54%) influences, while longitudinal environmental correlation was lower than genetic correlation (0.34 and 0.71, respectively).
Although the heritability of depressive symptoms was rather stable across the targeted time window, different environmental as well as genetic factors seemed to act before and after the lockdown, which suggests possible gene-environment interaction.
Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period ...1987-2008, and to investigate which factors may have influenced the CH incidence in our country.
Data were derived from the Italian National Registry of Infants with Congenital Hypothyroidism. Since 1998 the laboratory procedures related to neonatal screening for CH have changed drastically. Accordingly, we estimated the CH incidence during the period 1987-1998 (period 1) and the period 1999-2008 (period 2).
The incidence of CH confirmed at birth (including transient hypothyroidism) has increased from 1:3,000 liveborn infants in period 1 to 1:1,940 in period 2 (+54%), whereas the incidence of purely permanent CH increased from 1:3,200 to 1:2,320 (+38%). Lowering of the TSH cutoff was the most important factor contributing to the increase of CH incidence in Italy. Moreover, an increment of 58% of preterm babies with permanent CH was found in period 2 compared with period 1.
Our results suggest that more than one cause is responsible for the rise in the increasing CH incidence, with lowering of the screening TSH cutoff and an increased survival rate of a growing number of preterm babies both playing an important role.
Bariatric surgery (BS) is an effective intervention for severe obesity and associated comorbidities. Although several studies have addressed the clinical and metabolic effects of BS, an integrative ...analysis of the complex body response to surgery is still lacking. We conducted a longitudinal data study with 36 patients with severe obesity who were tested before, 6 and 12 months after restrictive BS for more than one hundred blood biomarkers, including clinical, oxidative stress and metabolic markers, peptide mediators and red blood cell membrane lipids. By using a synthetic data-driven modeling based on principal component and correlation analyses, we provided evidence that, besides the early, well-known glucose metabolism- and weight loss-associated beneficial effects of BS, a tardive, weight-independent increase of the hepatic cholesterol metabolism occurs that is associated with potentially detrimental inflammatory and metabolic effects. Canonical correlation analysis indicated that oxidative stress is the most predictive feature of the BS-induced changes of both glucose and lipids metabolism. Our results show the power of multi-level correlation analysis to uncover the network of biological pathways affected by BS. This approach highlighted potential health risks of restrictive BS that are disregarded with the current practice to use weight loss as surrogate of BS success.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Background: Endometriosis is a common gynecologic disease characterized by the ectopic growth of endometrial tissue. In industrialized countries, it affects approximately 10% of women of reproductive ...age. Its etiology is unclear, but a multifactorial origin is considered to be most plausible. Environmental organochlorinated persistent pollutants, in particular dioxins and polychlorinated biphenyls (PCBs), have been hypothesized to play a role in the disease etiopathogenesis. However, results of studies carried out on humans are conflicting. Objective: We evaluated the exposure to organochlorinated persistent pollutants as a risk factor for endometriosis. Methods: We conducted a case-control study in Rome on 158 women comprising 80 cases and 78 controls. In all women, serum concentrations of selected non-dioxin-like PCBs (NDL-PCBs) and dioxin-like PCBs (DL-PCBs), 1,1-dichloro-2,2,-bis(4-chlorophenyl)-ethene (p,p'-DDE), and hexachlorobenzene (HCB) were determined by ion-trap mass spectrometry. DR-CALUX bioassay was employed to assess the 2,3,7,8-tetrachlorodibenzo-p-dioxin toxicity equivalent (TEQ) concentrations of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), and DL-PCBs. Results: We found an increased risk of endometriosis for DL-PCB-118 odds ratio (OR) = 3.79; 95% confidence interval (CI), 1.61-8.91, NDL-PCB-138 (OR = 3.78; 95% CI, 1.60-8.94), NDL-PCB-153 (OR = 4.88; 95% CI, 2.01-11.0), NDL-PCB-170 (OR = 3.52; 95% CI, 1.41-8.79), and the sum of DL-PCBs and NDL-PCBs (OR = 5.63; 95% CI, 2.25-14.10). No significant associations were observed with respect to HCB or to the sum of PCDDs, PCDFs, and DL-PCBs given as total TEQs. Conclusions: The results of this study show that an association exists between increased PCB and p,p'-DDE serum concentrations and the risk of endometriosis.
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BFBNIB, DOBA, IZUM, KILJ, NMLJ, NUK, OILJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Background and Objectives: Non-cancer chronic pain (CP) results from the interaction between genetic and environmental factors. Twin studies help to estimate genetic and environmental contributions ...to complex traits such as CP. To date, twin studies on the heritability of pain phenotypes have relied almost exclusively on specific diagnoses, neglecting pain intensity. This study aims to estimate the genetic and environmental contributions to CP occurrence as a wide phenotype and its intensity among a non-clinical population. Materials and Methods: A nationwide online survey was conducted in February 2020 on 6000 adult twins enrolled in the Italian Twin Registry. A five-item questionnaire, designed and validated by our study group, was administered to detect the CP condition along with its intensity, underlying causes or triggers, treatments, and self-perceived efficacy. The twin study design was used to infer the relative weight of genes and environment on CP occurrence and intensity, and biometrical modelling was applied to these phenotypes. Results: A total of 3258 twins, aged ≥18, replied to the online survey (response rate 54%). These included 762 intact pairs (mean age: 39 years; age range: 18–82 years; 34% male; CP prevalence: 24%), of whom 750 pairs were subjected to biometrical modelling after the exclusion of pairs with either unknown zygosity or cancer-associated CP. Broad-sense heritability estimates were driven by non-additive genetic effects and were 0.36 (0.19–0.51) for CP occurrence and 0.31 (0.16–0.44) for CP intensity. No evidence emerged for either sex differences in genetic and environmental variance components or interactions of these components with age. Conclusions: Moderate non-additive genetic components were suggested for non-cancer CP occurrence and its intensity. These results encourage further research on the gene–gene interactions underlying CP liability and associated phenotypes, and also strengthen the need for prevention strategies to avoid CP occurrence or to decrease pain intensity.
Objective To investigate the occurrence of a gene–environment interaction between glutathione transferase (GST) gene polymorphisms ( GSTM1, GSTT1, GSTP1, and GSTA1 ) and serum polychlorinated ...biphenyls (PCBs) levels. This is suggested as possible risk factors for endometriosis, a multifactorial gynecological disease. Design Case-control study conducted from 2002 to 2005. Setting Policlinico Umberto I, “Sapienza” University of Rome and Italian National Institute for Health, Rome. Patient(s) Italian women (N = 343), with laparoscopic diagnosis and histologic confirmation of the presence (cases, N = 181) or the absence (controls, N = 162) of endometriosis. Intervention(s) Genomic DNA extraction, multiplex polymerase chain reaction (PCR), and restriction fragment length polymorphism analysis. Determination of serum concentrations of selected PCBs by ion-trap mass spectrometry (subgroup, 63 cases and 63 controls). Main Outcome Measure(s) Endometriosis diagnosis by laparoscopy, GST genotypes, serum PCB levels. Result(s) The genotype distributions of GSTM1, GSTA1, and GSTP1 did not show any statistically significant difference between cases and controls. The GSTT1 null genotype was negatively associated with the disease. The GSTP1 wild-type genotype in the presence of medium-high blood levels of PCB153, total PCBs, or of high levels of PCB180 significantly increased the risk of endometriosis, suggesting a multiplicative interaction. Conclusion(s) The GSTs polymorphisms per se do not increase the risk of developing endometriosis. However, a gene–environment interaction was observed for GSTP1Ile/Ile and GSTM1 null genotypes, modulating the effect of PCB153, PCB180, and of total PCBs on disease risk.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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