scholarly journals Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome

2006 ◽  
Vol 91 (10) ◽  
pp. 3897-3902 ◽  
Author(s):  
Kirstine Stochholm ◽  
Svend Juul ◽  
Knud Juel ◽  
Rune Weis Naeraa ◽  
Claus Højbjerg Gravholt
Keyword(s):  
Turner Syndrome ◽  
Causes Of Death ◽  
Diagnostic Delay ◽  
Incidence Rates ◽  
Age At Diagnosis ◽  
Steady Increase ◽  
Background Population ◽  
Coronary Diseases ◽  
Number Of Patients ◽  
Standardized Mortality Ratios

Abstract Aim: Our aim was to study prevalence, incidence, age at diagnosis, and mortality in Turner syndrome (TS) in Denmark. Methods: Using the Danish Cytogenetic Register, we identified all cases (n = 781) of TS alive in Denmark during 1970–2001. Sixty-nine deceased women with TS were identified in the Causes of Death Register. We divided the cohort into women having the karyotype 45,X, karyotypes including an isochromosome Xq, and all other karyotypes associated with TS. We describe the number of patients diagnosed in Denmark yearly, incidence rates, and the age at diagnosis. Standardized mortality ratios (SMR) were calculated. Results: A total of 349 women had a 45,X karyotype, 86 had a karyotype including an isochromosome Xq (isoXq), and 346 had another TS karyotype. Mortality was increased in TS with an SMR of 2.86 (95% confidence interval, 2.18–3.55). SMR was increased for coronary diseases, congenital malformations, endocrine diseases, and other causes. The mortality was increased for all types of karyotypes in comparison with the general population but was highest among females with 45,X and isoXq. There was a steady increase in prevalence, but incidence was unchanged. Age at diagnosis was mainly distributed in three periods: less than 1 yr of age (14.9%), during adolescence (10–17 yr) (33.2%), and during adulthood (38.5%), with a median age at diagnosis of 15.1 yr, decreasing during the study period (P < 0.01). Conclusions: Patients with TS and especially the karyotypes 45,X and isoXq have a higher mortality compared with the background population. TS was diagnosed with a considerable diagnostic delay. Prevalence is increasing, but incidence of TS was stable.

scholarly journals Incidence of Infective Endocarditis Among Patients With Tetralogy of Fallot

2021 ◽  
Author(s):  
Eva Havers‐Borgersen ◽  
Jawad H. Butt ◽  
Morten Smerup ◽  
Gunnar H. Gislason ◽  
Christian Torp‐Pedersen ◽  
...  
Keyword(s):  
Infective Endocarditis ◽  
Tetralogy Of Fallot ◽  
Pulmonary Valve Replacement ◽  
Incidence Rates ◽  
Intracardiac Repair ◽  
Background Population ◽  
Number Of Patients ◽  
Comparative Risk ◽  
Observational Cohort

Background Patients with tetralogy of Fallot (ToF) are considered at high risk of infective endocarditis (IE) as a result of altered hemodynamics and multiple invasive procedures, including pulmonary valve replacement (PVR). Data on the long‐term risk of IE are sparse. Methods and Results In this observational cohort study, all patients with ToF born from 1977 to 2018 were identified using Danish nationwide registries and followed from date of birth until occurrence of first‐time IE, emigration, death, or end of study (December 31, 2018). The comparative risk of IE among patients with ToF versus age‐ and sex‐matched controls from the background population was assessed. Because of rules on anonymity, exact numbers cannot be reported if the number of patients is <4. A total of 1164 patients with ToF were identified and matched with 4656 controls. Among patients with ToF, 851 (73.1%) underwent early surgical intracardiac repair and 276 (23.7%) underwent PVR during follow‐up. During a median follow‐up of 20.3 years, 41 (3.5%) patients with ToF (comprising 24 [8.7%] with PVR and 17 [1.9%] without PVR) and <4 (<0.8%) controls were admitted with IE. The incidence rates of IE per 10 000 person‐years were 22.4 (95% CI, 16.5–30.4) and 0.1 (95% CI, 0.01–0.7) among patients and controls, respectively. Moreover, PVR was associated with a further increased incidence of IE among patients with ToF (incidence rates per 10 000 person‐years with and without PVR were 46.7 [95% CI, 25.1–86.6] and 2.8 [95% CI 2.0–4.0], respectively). Conclusions Patients with ToF are associated with a substantially higher incidence of IE than the background population. In particular, PVR was associated with an increased incidence of IE. With an increasing life expectancy of these patients, intensified awareness, preventive measures, and surveillance of this patient group are decisive.

Changing Epidemiology ofClostridium difficile-Associated Disease in Children

2007 ◽  
Vol 28 (11) ◽  
pp. 1233-1235 ◽  
Author(s):  
Lacey Benson ◽  
Xiaoyan Song ◽  
Joseph Campos ◽  
Nalini Singh
Keyword(s):  
Emergency Department ◽  
Neonatal Intensive Care ◽  
Medical Center ◽  
Temporal Trends ◽  
Outpatient Setting ◽  
Incidence Rates ◽  
Steady Increase ◽  
Ofclostridium Difficile ◽  
Number Of Patients ◽  
Stool Specimens

Objective.To determine temporal trends in the incidence rate forClostridium difficile-associated disease (CDAD) in a pediatric patient population.Methods.We performed an observational, retrospective cohort study that included children who visited or were admitted to Children's National Medical Center during the period from July 2001 through June 2006. The CDAD incidence rates were determined and examined for changes over time using the Poisson regression method.Results.A total of 513 patients whose stool specimens tested positive forC. difficiletoxin were identified. Of these patients, 61% were children aged 2 years or older. The proportion of patients with CDAD in this age group has steadily increased from 46% in 2001 to 64% in 2006. Largely as a result of an increasing number of cases of community-associated CDAD, the incidence of CDAD increased significantly in the outpatient setting, particularly in the emergency department (1.18 cases per 1,000 visits in 2001 vs 2.47 cases per 1,000 visits in 2006;P= .02). The incidence among inpatients decreased during the study period (1.024 cases per 1,000 patient-days in 2001 vs 0.680 cases per 1,000 patient-days in 2006;P= .004). In the neonatal intensive care unit,C. difficile toxinwas detected in stool specimens collected from 22 patients aged from 15 days to 6 months.Conclusion.This study revealed a steady increase in the number of patients seen in the emergency department with community-acquired CDAD. Findings from this study suggest that the characteristics of CDAD in children—a population that has not been considered to be at high risk for this disease in the past—are changing. Further investigations are warranted to explore deviations from the established burdens of the disease and patient risk factors.

scholarly journals Epidemiology of craniopharyngiomas: a population based study in Malta

2021 ◽  
Author(s):  
Sarah Craus ◽  
Mark Gruppetta
Keyword(s):  
Prevalence Rate ◽  
Adult Population ◽  
Epidemiological Data ◽  
Population Based ◽  
Incidence Rates ◽  
Adult Onset ◽  
Population Based Study ◽  
Background Population ◽  
Number Of Patients ◽  
Significant Difference

Background: Despite being benign tumours, craniopharyngiomas are challenging to manage and can cause significant morbidity and mortality in both the paediatric and adult population. The aim of the study was to analyse epidemiology of craniopharyngioma, patient and tumour characteristics through a population-based study in Malta, enabling a better quantification of the disease burden. Method: A thorough research was carried out to identify the number of patients who were diagnosed with craniopharyngiomas. Epidemiological data, including both Standardised incidence rates (SIR) and prevalence rates were established in a well-defined population. For incidence estimates, patients who were diagnosed between 2008 and 2019 were included. The background population formed 4.8 million patient-years at risk. Result: 29 subjects were identified and included in our study. The overall SIR was 0.3/100,000/year, with a higher SIR for males compared to females (0.4/100,000/year and 0.2/100,000/year, respectively). The highest SIR was recorded in the 10-19 year age group. The estimated prevalence rate amounted to 5.27/100,000 people, with a lower prevalence rate for childhood onset when compared to the adult-onset category (2.03/100,000 vs 3.24/100,000 people). The median longest tumour diameter was 31.0mm (IQR 21-41), with statistically significant difference between childhood- and adult-onset disease; 43.0mm (IQR 42.5-47.25) vs 27.0mm (IQR 20.55-31.55) (P=0.011). Conclusion: Through this population-based study, accurate and up-to-date prevalence and incidence rates for craniopharyngiomas are reported. These provide a clearer reflection of the true health burden of the disease.

scholarly journals Diabetes mellitus was not associated with lower amputation-free survival after open revascularization for chronic limb-threatening ischemia – A nationwide propensity score adjusted analysis

2021 ◽  
pp. 1358863X2110082
Author(s):  
Erika Lilja ◽  
Anders Gottsäter ◽  
Mervete Miftaraj ◽  
Jan Ekelund ◽  
Björn Eliasson ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Propensity Score ◽  
Vascular Surgery ◽  
Incidence Rate ◽  
Cox Regression ◽  
Major Amputation ◽  
Incidence Rates ◽  
Major Adverse Cardiovascular Events ◽  
Cox Regression Analysis ◽  
Number Of Patients

The risk of major amputation is higher after urgently planned endovascular therapy for chronic limb-threatening ischemia (CLTI) in patients with diabetes mellitus (DM). The aim of this nationwide cohort study was to compare outcomes between patients with and without DM following urgently planned open revascularization for CLTI from 2010 to 2014. Out of 1537 individuals registered in the Swedish Vascular Registry, 569 were registered in the National Diabetes Register. A propensity score adjusted Cox regression analysis was conducted to compare outcome between the groups with and without DM. Median follow-up was 4.3 years and 4.5 years for patients with and without DM, respectively. Patients with DM more often had foot ulcers ( p = 0.034) and had undergone more previous amputations ( p = 0.001) at baseline. No differences in mortality, cardiovascular death, major adverse cardiovascular events (MACE), or major amputation were observed between groups. The incidence rate of stroke was 70% higher (95% CI: 1.11–2.59; p = 0.0137) and the incidence rate of acute myocardial infarction (AMI) 39% higher (95% CI: 1.00–1.92; p = 0.0472) among patients with DM in comparison to those without. Open vascular surgery remains a first-line option for a substantial number of patients with CLTI, especially for limb salvage in patients with DM. The higher incidence rates of stroke and AMI among patients with DM following open vascular surgery for infrainguinal CLTI require specific consideration preoperatively with the aim of optimizing medical treatment to improve cardiovascular outcome postoperatively.

scholarly journals Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Carlo Fusco ◽  
◽  
Vincenzo Leuzzi ◽  
Pasquale Striano ◽  
Roberta Battini ◽  
...  
Keyword(s):  
Amino Acid ◽  
Diagnostic Delay ◽  
Steering Committee ◽  
Outcome Data ◽  
Diagnosis And Treatment ◽  
Acid Decarboxylase ◽  
Delphi Consensus ◽  
Amino Acid Decarboxylase ◽  
Modified Delphi ◽  
Number Of Patients

Abstract Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. Methods Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. Results 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients’ association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. Conclusions The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.

scholarly journals Epidemiology of Secondary Warm Autoimmune Haemolytic Anaemia—A Systematic Review and Meta-Analysis

2021 ◽  
Vol 10 (6) ◽  
pp. 1244
Author(s):  
Stinne Tranekær ◽  
Dennis Lund Hansen ◽  
Henrik Frederiksen
Keyword(s):  
Haemolytic Anaemia ◽  
Lupus Erythematosus ◽  
Meta Analysis ◽  
Underlying Disease ◽  
Age At Diagnosis ◽  
Autoimmune Haemolytic Anaemia ◽  
Sex Distribution ◽  
Number Of Patients ◽  
Study Results ◽  
Full Text Review

Background: Warm autoimmune haemolytic anaemia (wAIHA) is a haemolytic disorder, most commonly seen among adults and is classified as either primary or secondary to an underlying disease. We describe the age and sex distribution and the proportion of secondary wAIHA. Method: We retrieved 2635 published articles, screened abstracts and titles, and identified 27 articles eligible for full-text review. From these studies, we extracted data regarding number of patients, sex distribution, age at diagnosis, number of patients with secondary wAIHA, and whether the patients were diagnosed through local or referral centres. All data were weighted according to the number of included patients in each study. Results: 27 studies including a total of 4311 patients with wAIHA, of which 66% were females, were included. The median age at diagnosis was 68.7 years, however, wAIHA affected all ages. The mean proportion of secondary wAIHA was 49%, most frequently secondary to systemic lupus erythematosus. The proportions of secondary wAIHA reported from primary vs. referral centres were 35% vs. 59%, respectively. Conclusion: This review consolidates previously reported gender distribution. The higher proportion of secondary wAIHA in referral centres suggests that the most severely affected patients are disproportionally more frequent in such facilities.

scholarly journals Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

Nutrients ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 156 ◽  
Author(s):  
Mónica Villanueva ◽  
Amaya Oyarzún ◽  
Bárbara Leyton ◽  
Mónica González ◽  
Elizabeth Navarro ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Nutritional Status ◽  
Gastrointestinal Symptoms ◽  
Failure To Thrive ◽  
Age At Diagnosis ◽  
Pediatric Hospitals ◽  
Geographical Variations ◽  
Number Of Patients ◽  
Antiendomysial Antibodies

The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994–2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.

Life expectancy, standardized mortality ratios, and causes of death in six rheumatic diseases in Hong Kong, China

2011 ◽  
Vol 63 (5) ◽  
pp. 1182-1189 ◽  
Author(s):  
C. C. Mok ◽  
C. L. Kwok ◽  
L. Y. Ho ◽  
P. T. Chan ◽  
S. F. Yip
Keyword(s):  
Hong Kong ◽  
Life Expectancy ◽  
Rheumatic Diseases ◽  
Causes Of Death ◽  
Standardized Mortality Ratios

scholarly journals Colorectal Cancer in Lebanon: Incidence, Temporal Trends, and Comparison to Regional and Western Countries

2021 ◽  
Vol 28 ◽  
pp. 107327482199686
Author(s):  
Najla A. Lakkis ◽  
Ola El-Kibbi ◽  
Mona H. Osman
Keyword(s):  
Colorectal Cancer ◽  
Cancer Incidence ◽  
Temporal Trends ◽  
Incidence Rates ◽  
Steady Increase ◽  
P Value ◽  
Western Countries ◽  
Incidence And Mortality ◽  
Colorectal Cancer Incidence ◽  
Males And Females

Global trends in the incidence and mortality rates of colorectal cancer show a steady increase with significant predilection to western developed countries, possibly linking it to westernized lifestyles among other risk factors. This study aims to investigate the incidence and trends of colorectal cancer in Lebanon, a country in the Middle East and North Africa region, and to compare these rates to those in regional and western countries. Colorectal cancer incidence data were extracted from the Lebanese National Cancer Registry for the currently available years 2005 to 2016. The calculated age-standardized incidence rates and age-specific rates were expressed as per 100,000 population. The age-standardized incidence rates of colorectal cancer in Lebanon increased from 16.3 and 13.0 per 100,000 in 2005 to 23.2 and 20.2 per 100,000 in 2016, among males and females, respectively. The incidences were higher for males, and they increased with age. The annual percent change was +4.36% and +4.45%, in males and females respectively (p-value < 0.05). There was a non-statistically significant trend of decrease in recent years (since 2012 in males and since 2011 in females). The age-standardized incidence rates in Lebanon were higher than those in the majority of the regional countries, but lower than the rates in developed western countries. There were high age-specific incidence rates at age groups 40-44 and 45-49 years in Lebanon in both males and females (with significant rising temporal trend) compared to other countries, including the ones reported to have the highest colorectal cancer age-standardized incidence rate worldwide. Therefore, the burden of colorectal cancer is significant in Lebanon. This raises the necessity to develop national strategies tailored to reduce colorectal cancer incidence through promoting healthy lifestyles, raising awareness, and early detection as of 40 years of age.

Inhibitor development in haemophilia according to concentrate

2015 ◽  
Vol 113 (05) ◽  
pp. 968-975 ◽  
Author(s):  
Riita Lassila ◽  
Flora Peyvandi ◽  
Gabriele Calizzani ◽  
Alex Gatt ◽  
Thierry Lambert ◽  
...  
Keyword(s):  
Calculated Data ◽  
Incidence Rates ◽  
Clotting Factor ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Inhibitor Development ◽  
Haemophilia B ◽  
Number Of Patients ◽  
Recombinant Fviii ◽  
Set Up

SummaryInhibitor development represents the most serious side effect of haemophilia treatment. Any difference in risk of inhibitor formation depending on the product used might be of clinical relevance. It was this study’s objective to assess inhibitor development according to clotting factor concentrate in severe haemophilia A and B. The European Haemophilia Safety Surveillance (EUHASS) was set up as a study monitoring adverse events overall and according to concentrate. Since October 2008, inhibitors were reported at least quarterly. Number of treated patients was reported annually, specifying the number of patients completing 50 exposure days (Previously Untreated Patients, PUPs) without inhibitor development. Cumulative incidence, incidence rates and 95 % confidence intervals (CI) were calculated. Data from October 1, 2008 to December 31, 2012 were analysed for 68 centres that validated their data. Inhibitors developed in 108/417 (26 %; CI 22–30 %) PUPs with severe haemophilia A and 5/72 (7 %; CI 2–16%) PUPs with severe haemophilia B. For Previously Treated Patients (PTPs), 26 inhibitors developed in 17,667 treatment years [0.15/100 treatment years; CI 0.10–0.22) for severe haemophilia A and 1/2836 (0.04/100; (CI 0.00–0.20) for severe haemophilia B. Differences between plasma-derived and recombinant concentrates, or among the different recombinant FVIII concentrates were investigated. In conclusion, while confirming the expected rates of inhibitors in PUPs and PTPs, no class or brand related differences were observed.

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