scholarly journals Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

2019 ◽  
Author(s):  
Henrik Falhammar ◽  
Louise Frisén ◽  
Angelica Linden Hirschberg ◽  
Agneta Nordenskjöld ◽  
Catarina Almqvist ◽  
...  
Keyword(s):  
Cohort Study ◽  
Population Based ◽  
Autoimmune Disorders ◽  
Hydroxylase Deficiency ◽  
Swedish Population ◽  
Increased Risk ◽  
National Cohort ◽  
21 Hydroxylase Deficiency

scholarly journals Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

2015 ◽  
Vol 100 (9) ◽  
pp. 3520-3528 ◽  
Author(s):  
Henrik Falhammar ◽  
Louise Frisén ◽  
Angelica Linden Hirschberg ◽  
Christina Norrby ◽  
Catarina Almqvist ◽  
...  
Keyword(s):  
Cohort Study ◽  
Population Based ◽  
Hydroxylase Deficiency ◽  
Swedish Population ◽  
National Cohort ◽  
21 Hydroxylase Deficiency

scholarly journals Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

2017 ◽  
Vol 102 (11) ◽  
pp. 4191-4199 ◽  
Author(s):  
Henrik Falhammar ◽  
Louise Frisén ◽  
Christina Norrby ◽  
Catarina Almqvist ◽  
Angelica Linden Hirschberg ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Population Based ◽  
Adopted Children ◽  
Hydroxylase Deficiency ◽  
Swedish Population ◽  
Salt Wasting ◽  
Reduced Frequency ◽  
Biological Children ◽  
National Cohort ◽  
21 Hydroxylase Deficiency

Abstract Context Fertility in males with 21-hydroxylase deficiency (21OHD) is unclear. Objective Study fertility outcome in males with congenital adrenal hyperplasia. Design, Setting, and Participants Males ≥15 years old with 21OHD (n = 221) were compared with controls matched for sex and year and place of birth (n = 22,024). Data were derived by linking national population-based registers. Subgroup analyses were performed regarding phenotype [salt-wasting (SW), simple virilizing (SV), and nonclassic (NC)] and CYP21A2 genotype (null, I2 splice, I172N, and P30L) and stratified by the introduction of neonatal screening. Main Outcome Measures Number of biological and adopted children. Results Males with 21OHD were less likely to be fathers of biological children [odds ratio (OR), 0.5; 95% confidence interval (CI), 0.4 to 0.7; after adjusting for socioeconomic characteristics: OR, 0.4; 95% CI, 0.2 to 0.5]. This was true for SW, SV, I2 splice, and I172N, but not for NC, null, and P30L groups (all adjusted). Among patients born before the neonatal screening introduction, fewer were fathers (adjusted OR, 0.3; 95% CI, 0.2 to 0.5), but this normalized in those born afterward. Adoption was more common in the 21OHD males (OR, 2.9; 95% CI, 1.0 to 7.9) and the SV and I172N subgroups. Age at becoming a father, marriage, region of residence, and education were similar, but fewer patients had high incomes. NC and I172N groups had, however, higher academic degrees and NC patients were more often married, whereas SW and I2 splice patients were more often divorced. Conclusions 21OHD was associated with a reduced frequency of biological children and an increased frequency of adopted children, suggesting impaired fertility, although some subgroups had normal fertility.

scholarly journals Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-Based National Cohort Study

2021 ◽  
Author(s):  
Henrik Falhammar ◽  
Louise Frisén ◽  
Angelica Lindén Hirschberg ◽  
Agneta Nordenskjöld ◽  
Catarina Almqvist ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Population Based ◽  
Place Of Birth ◽  
Adrenal Hyperplasia ◽  
Mineral Density ◽  
Hydroxylase Deficiency ◽  
Swedish Population ◽  
Classic Phenotype ◽  
National Cohort ◽  
21 Hydroxylase Deficiency

Abstract Context Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear. Objective To study the prevalence of fractures in CAH. Design, Setting, and Participants: Patients with CAH (n=714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n=71,400). Data were derived by linking National Population-Based Registers. . Main Outcome Measures Number and type of fractures. Results Mean age was 29.8±18.4 years. Individuals with CAH had more fractures compared to controls (23.5% vs. 16.1%, OR 1.61, 95%CI 1.35-1.91), and this was found in both sexes (females: 19.6% vs. 13.3%, OR 1.57, 95%CI 1.23-2.02; males: 28.7% vs. 19.6%, OR 1.65, 95%CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip or shoulder) was increased in all individuals with CAH (9.8% vs. 7.5%, OR 1.34, 95%CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while non-classic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls. Conclusions Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patient neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.

scholarly journals Non-infectious comorbidity in patients with multiple sclerosis: A national cohort study in Sweden

2020 ◽  
Vol 6 (3) ◽  
pp. 205521732094776
Author(s):  
Anna Castelo-Branco ◽  
Flaminia Chiesa ◽  
Camilla E Bengtsson ◽  
Sally Lee ◽  
Neil N Minton ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Cohort Study ◽  
Improve Patient Care ◽  
Bowel Dysfunction ◽  
Population Based ◽  
Incidence Rates ◽  
Swedish Population ◽  
Comorbidity Burden ◽  
National Cohort ◽  
Rate Ratios

Background Comorbidity is of significant concern in multiple sclerosis (MS). Few population-based studies have reported conditions occurring in MS after diagnosis, especially in contemporary cohorts. Objective To explore incident comorbidity, mortality and hospitalizations in MS, stratified by age and sex. Methods In a Swedish population-based cohort study 6602 incident MS patients (aged ≥18 years) and 61,828 matched MS-free individuals were identified between 1 January 2008 and 31 December 2016, using national registers. Incidence rates (IRs) and incidence rate ratios (IRRs) with 95% CI were calculated for each outcome. Results IRs of cardiovascular disease (CVD) were higher among MS patients than MS-free individuals, (major adverse CVD: IRR 1.42; 95% CI 1.12–1.82; hemorrhagic/ischemic stroke: 1.46; 1.05–2.02; transient ischemic attack: 1.65; 1.09–2.50; heart failure: 1.55; 1.15–2.10); venous thromboembolism: 1.42; 1.14–1.77). MS patients also had higher risks of several non-CVDs such as autoimmune conditions (IRR 3.83; 3.01–4.87), bowel dysfunction (2.16; 1.86–2.50), depression (2.38; 2.11–2.68), and fractures (1.32; 1.19–1.47), as well as being hospitalized and to suffer from CVD-related deaths ((1.91; 1.00–3.65), particularly in females (3.57; 1.58–8.06)). Conclusion MS-patients experience a notable comorbidity burden which emphasizes the need for integrated disease management in order to improve patient care and long-term outcomes of MS.

Cancer Risk in Patients with Autoimmune Hepatitis: A Nationwide Population-Based Cohort Study with Histopathology

2021 ◽  
Author(s):  
Rajani Sharma ◽  
Elizabeth C Verna ◽  
Tracey G Simon ◽  
Jonas Söderling ◽  
Hannes Hagström ◽  
...  
Keyword(s):  
Cohort Study ◽  
General Population ◽  
Cancer Risk ◽  
Autoimmune Hepatitis ◽  
Cox Regression ◽  
Population Based ◽  
Swedish Population ◽  
Non Melanoma Skin Cancer ◽  
Incident Cancer ◽  
Increased Risk

Abstract We aimed to determine the risk of incident cancer in autoimmune hepatitis (AIH) compared to the general population and siblings. AIH was defined by the presence of a medical diagnosis of AIH and a liver biopsy in a nationwide Swedish population-based cohort study. We identified 5,268 adults with AIH diagnosed 1969-2016 and 22,996 matched general population reference individuals and 4,170 sibling comparators. Using Cox regression, hazard ratios (HRs) were determined for any incident cancer and sub-types determined from the Swedish Cancer Register. During follow-up, a cancer diagnosis was made in 1,119 individuals with AIH (17.2/1000 person-years) and 4,450 reference individuals (12.0/1000 person-years). This corresponded to an HR of 1.53 (95%CI: 1.42,1.66). Cancer risk was highest in those with cirrhosis. There was a 29.18-fold increased risk of hepatocellular carcinoma (HCC) (95%CI, 17.52,48.61). The annual incidence risk of HCC in individuals with AIH who had cirrhosis was 1.1% per year. AIH was also linked to non-melanoma skin cancer (HR=2.69) and lymphoma (HR=1.89). Sibling analyses yielded similar risk estimates for any cancer (HR=1.84) and HCC (HR=23.10). AIH is associated with an increased risk of any cancer, in particular, HCC and extra-hepatic malignancies. The highest risk for cancer, especially HCC, is in patients with cirrhosis.

scholarly journals Quantifying the association between ethnicity and COVID-19 mortality: a national cohort study protocol

BMJ Open ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. e045286
Author(s):  
Hajira Dambha-Miller ◽  
Pui San Tan ◽  
Defne Saatci ◽  
Ashley Kieran Clift ◽  
Francesco Zaccardi ◽  
...  
Keyword(s):  
Cohort Study ◽  
Minority Groups ◽  
Population Based ◽  
Cox Models ◽  
Explanatory Factors ◽  
Increased Risk ◽  
National Cohort ◽  
Ethnic Subgroups ◽  
Scientific Meetings ◽  
Care Database

IntroductionRecent evidence suggests that ethnic minority groups are disproportionately at increased risk of hospitalisation and death from SARS-CoV-2 infection. Population-based evidence on potential explanatory factors across minority groups and within subgroups is lacking. This study aims to quantify the association between ethnicity and the risk of hospitalisation and mortality due to COVID-19.Methods and analysisThis is a retrospective cohort study of adults registered across a representative and anonymised national primary care database (QResearch) that includes data on 10 million people in England. Sociodemographic, deprivation, clinical and domicile characteristics will be summarised and compared across ethnic subgroups (categorised as per 2011 census). Cox models will be used to calculate HR for hospitalisation and COVID-19 mortality associated with ethnic group. Potential confounding and explanatory factors (such as demographic, socioeconomic and clinical) will be adjusted for within regression models. The percentage contribution of distinct risk factor classes to the excess risks seen in ethnic groups/subgroups will be calculated.Ethics and disseminationThe study has undergone ethics review in accordance with the QResearch agreement (reference OX102). Findings will be disseminated through peer-reviewed manuscripts, presentations at scientific meetings and conferences with national and international stakeholders.

scholarly journals Risk of New Primary Cancer in Patients with Posterior Uveal Melanoma: A National Cohort Study

Cancers ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 284
Author(s):  
Mette Bagger ◽  
Vanna Albieri ◽  
Tine Gadegaard Hindso ◽  
Karin Wadt ◽  
Steffen Heegaard ◽  
...  
Keyword(s):  
Cohort Study ◽  
Uveal Melanoma ◽  
Population Based ◽  
Control Group ◽  
Cancer Type ◽  
Primary Cancer ◽  
Increased Risk ◽  
Specific Cancer ◽  
National Cohort ◽  
Cancer Types

Background: Studies on the risk of new primary cancer in patients with posterior uveal melanoma (UM) have produced conflicting results, and the role of socioeconomic status (SES) is unknown. The purpose of this population-based matched cohort study was to determine the risk of new primary cancer following the diagnosis of posterior UM. Methods: 2179 patients with posterior UM 1968–2016 and 22,717 matched controls without cancer were included. Incidence and time-dependent hazard ratio (HR) of new primary cancer were described, and the effect of SES was emphasized in a sub-cohort. Results: The incidence of new primary cancer was increased in patients with posterior UM, rate ratio (RR) 1.21 (95% CI: 1.08; 1.35), but the specific cancer types did not differ compared to the controls. The rate of new primary cancer following the diagnosis of posterior UM was significantly increased 2–5 years (HR 1.49 (95% CI: 1.23; 1.80)) and 11–15 years (HR: 1.49 (95% CI: 1.12; 1.99)), and adjusting for SES did not change the rate (HR 1.35 (95% CI:1.20; 1.55)). Conclusions: Patients with posterior UM have an increased risk of new primary cancer independent of SES. No difference in incidence of specific cancer type was observed compared to the control group.

scholarly journals Stress related disorders and subsequent risk of life threatening infections: population based sibling controlled cohort study

BMJ ◽  
2019 ◽  
pp. l5784 ◽  
Author(s):  
Huan Song ◽  
Katja Fall ◽  
Fang Fang ◽  
Helga Erlendsdóttir ◽  
Donghao Lu ◽  
...  
Keyword(s):  
Cohort Study ◽  
Selective Serotonin Reuptake Inhibitors ◽  
Population Based ◽  
Age At Diagnosis ◽  
Swedish Population ◽  
Related Disorder ◽  
Hazard Ratios ◽  
Increased Risk ◽  
Life Threatening ◽  
Subsequent Risk

Abstract Objective To assess whether severe psychiatric reactions to trauma and other adversities are associated with subsequent risk of life threatening infections. Design Population and sibling matched cohort study. Setting Swedish population. Participants 144 919 individuals with stress related disorders (post-traumatic stress disorder (PTSD), acute stress reaction, adjustment disorder, and other stress reactions) identified from 1987 to 2013 compared with 184 612 full siblings of individuals with a diagnosed stress related disorder and 1 449 190 matched individuals without such a diagnosis from the general population. Main outcome measures A first inpatient or outpatient visit with a primary diagnosis of severe infections with high mortality rates (ie, sepsis, endocarditis, and meningitis or other central nervous system infections) from the Swedish National Patient Register, and deaths from these infections or infections of any origin from the Cause of Death Register. After controlling for multiple confounders, Cox models were used to estimate hazard ratios of these life threatening infections. Results The average age at diagnosis of a stress related disorder was 37 years (55 541, 38.3% men). During a mean follow-up of eight years, the incidence of life threatening infections per 1000 person years was 2.9 in individuals with a stress related disorder, 1.7 in siblings without a diagnosis, and 1.3 in matched individuals without a diagnosis. Compared with full siblings without a diagnosis of a stress related disorder, individuals with such a diagnosis were at increased risk of life threatening infections (hazard ratio for any stress related disorder was 1.47 (95% confidence intervals1.37 to 1.58) and for PTSD was 1.92 (1.46 to 2.52)). Corresponding estimates in the population based analysis were similar (1.58 (1.51 to 1.65) for any stress related disorder, P=0.09 for difference between sibling and population based comparison, and 1.95 (1.66 to 2.28) for PTSD, P=0.92 for difference). Stress related disorders were associated with all studied life threatening infections, with the highest relative risk observed for meningitis (sibling based analysis 1.63 (1.23 to 2.16)) and endocarditis (1.57 (1.08 to 2.30)). Younger age at diagnosis of a stress related disorder and the presence of psychiatric comorbidity, especially substance use disorders, were associated with higher hazard ratios, whereas use of selective serotonin reuptake inhibitors in the first year after diagnosis of a stress related disorder was associated with attenuated hazard ratios. Conclusion In the Swedish population, stress related disorders were associated with a subsequent risk of life threatening infections, after controlling for familial background and physical or psychiatric comorbidities.

Juvenile onset arthritis and pregnancy outcome: a population-based cohort study

2017 ◽  
Vol 76 (11) ◽  
pp. 1809-1814 ◽  
Author(s):  
Katarina Remaeus ◽  
Kari Johansson ◽  
Johan Askling ◽  
Olof Stephansson
Keyword(s):  
Cohort Study ◽  
Preterm Birth ◽  
Pregnancy Outcomes ◽  
Late Onset ◽  
Population Based ◽  
Spontaneous Preterm Birth ◽  
Juvenile Onset ◽  
Swedish Population ◽  
Increased Risk ◽  
Pregnancy And Delivery

ObjectivesReports on pregnancy outcomes among women with juvenile onset arthritis (JIA) have been few and small. The aim of this study was to assess pregnancy outcomes in a large and contemporary cohort of women diagnosed with JIA.MethodsIn a nationwide Swedish population-based cohort study between 1992 and 2011, we identified 1807 births among women with JIA and 1 949 202 control births. Since JIA is a heterogenic condition, births to women with JIA was divided into JIA paediatric only (n=1169) and JIA persisting into adulthood (n=638). ORs and 95% CIs were estimated with generalised estimating equations.ResultsWomen with JIA were at increased risk of preterm birth, especially medically indicated, in both subgroups: adjusted OR (aOR) 1.74 (1.35–2.67) for JIA paediatric and aOR 4.12 (2.76–6.15) for JIA persisting into adulthood. JIA persisting into adulthood was associated with very preterm birth (aOR 3.14, 1.58–6.24), spontaneous preterm birth (aOR 1.63, 1.11–2.39), small for gestational age birth (aOR 1.84, 1.19–2.85), early-onset pre-eclampsia (aOR 6.28, 2.68–13.81) and late-onset pre-eclampsia (aOR 1.96, 1.31–2.91). Women with JIA paediatric only were at increased risk of delivery by caesarean section (aOR 1.42, 1.66–1.73) and induction of labour (aOR 1.45, 1.18–1.77).ConclusionsWe found increased risks of both maternal and infant complications among women with JIA confined to childhood and in women with JIA persistent into adulthood as compared with population controls. Pregnancies in women with JIA should thus be subject to increased surveillance during pregnancy and delivery.

scholarly journals 3437 Associations of aspirin, non-aspirin NSAIDs, statins, and metformin with risk of biliary cancer: A Swedish population-based cohort study

2019 ◽  
Vol 3 (s1) ◽  
pp. 35-35
Author(s):  
Lorena Marcano Bonilla ◽  
Cathy Schleck ◽  
William Harmsen ◽  
Terry Therneau ◽  
Omid Sadr-Azodi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cohort Study ◽  
Low Dose ◽  
Population Based ◽  
Individual Risk ◽  
Swedish Population ◽  
Dose Aspirin ◽  
Increased Risk ◽  
Low Dose Aspirin ◽  
Time Varying Covariates

OBJECTIVES/SPECIFIC AIMS: In an effort to elucidate the role of potentially cancer chemopreventive drugs, we leveraged the Mayo Clinic-Karolinska Institute collaboration to create a multidisciplinary team that included an epidemiologist, statisticians, and physicians. We performed a population-based cohort study to examine the association between low dose aspirin, non-aspirin NSAIDs, statins, metformin, other risk factors and the risk of biliary tract cancer (BTC), while assessing confounding by sex. METHODS/STUDY POPULATION: We conducted a nationwide Swedish population-based cohort study using the Swedish Prescribed Drug Registry, which virtually completely enumerates use of prescribed medications nationwide since 2005. BTC diagnosis (intrahepatic cholangiocarcinoma [iCCA], extrahepatic cholangiocarcinoma [eCCA] or gallbladder cancer [GBC]) was ascertained from the Swedish Cancer Registry. Age-scaled Cox models, with exposure as time-varying covariates, were used to calculate hazard ratios (HRs), separately for men and women. RESULTS/ANTICIPATED RESULTS: In the 5.7 million person cohort, the risk of iCCA was significantly lower in men using statins (HR 0.62,95%CI 0.39-1.00, p = 0.05), with a non-significant reduction in women. Statin use was associated with a significantly decreased risk of eCCA in both women (HR 0.60,0.38-0.94, p = 0.03) and men (HR 0.47,0.28-0.80, p = 0.01). Low dose aspirin (HR 0.76,0.60-0.97, p = 0.03) was associated with a lower risk of GBC only in women, while statins (HR 0.72,0.55-0.93, p = 0.01) showed a significantly decreased risk of GBC in women and a non-significant reduction in men. For all BTC subtypes, combined use of low dose aspirin and statins did not confer additional risk reductions beyond those achieved by statins alone. Male and female users of non-aspirin NSAIDs appeared to be at increased risk of BTC and its subtypes. Metformin did not significantly affect risk of BTC. DISCUSSION/SIGNIFICANCE OF IMPACT: Our collaborative efforts allowed us to develop the largest population-based cohort evaluating risk and protective factors for BTC. Our results provide strong evidence in favor of the chemopreventive roles of low dose aspirin and statins in a subtype- and sex-specific manner. Individual risk factors contribute to development of BTC subtypes in different magnitudes. The next steps to translate these findings into clinical practice require randomized clinical trials that validate our results and provide a more complete picture of the risk-benefit ratio.

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