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

2021 ◽  
Author(s):  
Sarah Craus ◽  
Mark Gruppetta

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.

2006 ◽  
Vol 155 (1) ◽  
pp. 61-71 ◽  
Author(s):  
Kirstine Stochholm ◽  
Claus H Gravholt ◽  
Torben Laursen ◽  
Jens O Jørgensen ◽  
Peter Laurberg ◽  
...  

Objective: Data on incidence rates are scarce in GH deficiency (GHD). Here, we estimate the incidence rate in childhood onset (CO) and adult onset (AO) GHD in Denmark. Design: We used three national registries to identify 9131 cases with an increased risk of GHD. Date of entry was defined using the date when a registration had taken place and when a date of sufficient information could be defined from a thorough examination of a record of a GHD patient, which ever came last. We considered date of entry as the incident date. Methods: Sex-specific incidence rates of GHD in children and adults using the background population as reference. Results: During 1980–1999, 1823 patients were incident. Three-hundred and three males and 191 females had CO, 744 males and 585 females had AO GHD. The incidence rate over time was stable for females with AO GHD and increasing for the other three subgroups. Average incidence rate for CO males, 2.58 (95% confidence interval (CI), 2.30–2.88), CO females, 1.70 (95% CI, 1.48–1.96), AO males, 1.90 (95% CI, 1.77–2.04), and AO females, 1.42 (95% CI, 1.31–1.54) all per 100 000. The incidence rate was significantly higher in males compared to females in the CO GHD group (P < 0.001) and in the AO GHD group in the age ranges of 45–64 and 65+years (P < 0.001). There was no significant difference in the 18–44 years age group. Conclusions: In conclusion, we have identified the incidence rates of GHD in a nationwide study of Denmark. In this population-based study, we have identified in CO GHD and in the two oldest age groups of AO GHD, a statistically significant higher incidence rate in males when compared with females.


Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3921-3921
Author(s):  
Carsten Hirt ◽  
Kerstin Weitmann ◽  
Frank Schueler ◽  
Christian Späth ◽  
Wolfgang Hoffmann ◽  
...  

Abstract Abstract 3921 Poster Board III-857 The t(14;18)(BCL2/IgH) translocation is the genetic hallmark of follicular lymphoma (FL). Circulating t(14;18)-positive cells can not only be detected in FL patients but also in healthy subjects without lymphoma. Several epidemiological and molecular studies suggest that these t(14;18)-positive cells might represent lymphoma precursor cells and are associated with known FL risk factors like age and geographical differences in lymphoma incidence. We used epidemiological data and blood samples of a population-based study to verify associations of FL risk factors and t(14;18)-positive cells reported so far and to test for new associations. The study of health in Pomerania (SHIP) collects epidemiological data, a basic health status and blood samples from 4310 randomly selected inhabitants of the study region in the northeastern part of Germany. We tested buffy coat-DNA samples from 4152 study participants (median age 50 years, range 20-81 years, 2100 women) by real-time PCR for the presence and frequency of t(14;18)-positive cells. t(14;18)-PCR results were evaluable from 2620 subjects, 1533 subjects were tested positive (58.1%, median number of t(14;18)-positive cells in positive subjects 3.9 per million nucleated cells, range 0.6 – 9299 per million nucleated cells). t(14;18)-prevalence was lowest in the age group 20-29 years (42.2%) and increased up to the group 50-59 years (67.0%) but did not further increase up to the age of 81 years. In accordance with previous reports there was a significant increase of the t(14;18)-frequency with age up to the age of 69 years (linear regression, p< 0.0001) in this study. In the SHIP cohort, t(14;18)-prevalence was lower in females compared to males (53.2% versus 63.5%, p< 0.0001), but there was no significant difference in t(14;18)-frequency between males and females. Smoking status (current, former and never smoker) had no influence on t(14;18)-prevalence or frequency. This study confirms the association of t(14;18)-prevalence with age and shows for the first time that the t(14;18)-prevalence in females is lower than in males. The later finding parallels the observation of a lower FL incidence in females. In contrast to previous studies, smoking was not associated with detection of t(14;18)-positive cells when the analysis was adjusted for age and sex. In summary, this study confirms that the prevalence of t(14;18)-positive cells in non-lymphoma subjects is associated with established FL risk factors. Thus our report adds to the accumulating evidence that circulating t(14;18)-positive cells in non-lymphoma subjects may represent a biomarker of FL risk. Disclosures: No relevant conflicts of interest to declare.


2020 ◽  
Vol 18 (9) ◽  
pp. 1230-1237 ◽  
Author(s):  
Seyed M. Qaderi ◽  
Paul W. Dickman ◽  
Johannes H.W. de Wilt ◽  
Rob H.A. Verhoeven

Background: The increasing number of colorectal cancer (CRC) survivors need survival estimates that account for the time already survived. The aim of this population-based study was to determine conditional survival, cure proportions, and time-to-cure (TTC) of patients with colon or rectal cancer. Materials and Methods: All patients with pathologic stage I–III CRC treated with endoscopy or surgery, diagnosed and registered in the Netherlands Cancer Registry between 1995 and 2016, and aged 18 to 99 years were included. Conditional survival was calculated for those diagnosed before and after 2007. Cure proportions were calculated using flexible parametric models. Results: A total of 175,384 patients with pathologic stage I (25%), II (38%), or III disease (37%) were included. Conditional 5-year survival of patients with stage I, II, and III colon cancer having survived 5 years was 98%, 94%, and 92%, respectively. For patients with stage I–III rectal cancer, this was 96%, 89%, and 85%, respectively. Statistical cure in patients with colon cancer was reached directly after diagnosis (stage I) to 6 years (stage III) after diagnosis depending on age, sex, and disease stage. Patients with rectal cancer reached cure 0.5 years after diagnosis (stage I) to 9 years after diagnosis (stage III). In 1995, approximately 42% to 46% of patients with stage III colon or rectal cancer, respectively, were considered cured, whereas in 2016 this percentage increased to 73% to 78%, respectively. Conclusions: The number of patients with CRC reaching cure has increased substantially over the years. This study’s results provide valuable insights into trends of CRC patient survival and are important for patients, clinicians, and policymakers.


Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Fiona A Pearce ◽  
Bridget Griffiths ◽  
Chetan Mukhtyar ◽  
Reem Al-Jayoussi ◽  
Richard A Watts ◽  
...  

Abstract Background The contemporary prevalence of ANCA-associated vasculitis (AAV) in England is unknown. Hospital Episode Statistics (HES) contain data on every hospital and day case NHS admission in England since 1997. In collaboration with the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) we validated the diagnosis of AAV using ICD codes in HES. The positive predictive value of these codes was 86%, which compares favourably to a median coding accuracy of 80% in a recent systematic review of NHS coding studies. This justifies using this novel dataset for population-based epidemiology with coverage of the whole population of England. Methods We worked within NCARDRS enabled by their Section 251 legal permissions (CAG 10-02(d)/2015). We extracted all cases of AAV from HES 2011/12 to 2016/17 using ICD-10 codes M313 Granulomatosis with polyangiitis (GPA), M317 Microscopic polyangiitis (MPA), and M301 Eosinophilic granulomatosis with polyangiitis (EGPA). We used the Summary Care Record to check vital status and record date of death where appropriate. We estimated point prevalence on 1 July 2016 using ONS mid-year population estimates for England in 2016 as the denominator. Standardised mortality ratio (SMR) was calculated using the Office for National Statistics death summary tables 2016 to provide expected number of deaths for each 5-year age-band and sex. Results We identified 9,890 patients who were coded as having AAV during a hospital admission 2011-2017. This included 6,856 (69.3%) with GPA, 964 (9.8%) with MPA and 2,070 (20.9%) with EGPA. On 1 July 2016, our dataset found 8,040 people in England were living with ANCA associated vasculitis. We estimate the prevalence was 14.55 (95% CI: 14.23-14.87)/100,000 adult population. The median age of these patients was 65.3 years (interquartile range 52.3-74.2). 47% were female. The prevalence of GPA was 9.97/100.000 (95% CI: 9.71-10.24), MPA was 1.40/100,000 (95% CI: 1.30-1.50), and EGPA was 3.18/100,000 (95% CI: 3.03-3.33). People with AAV were 4.6 times more likely to die than the background population of the same age and sex (Standardised Mortality Ratio = 4.58). Conclusion There are no recent UK prevalence estimates for all types of ANCA-associated vasculitis. Studies in Australia, Germany, Southern Sweden and the USA have found estimated prevalence to be between 4.6-18.4 cases per 100,000 individuals. Our estimate of 14.6/100,000 in England is consistent with this, and towards the higher end of the range. However, our estimates underestimate the prevalence of MPA compared to other studies, and further work is needed to increase the routine identification of cases of MPA. Further work within NCARDRS using their unique data linkages will enable more specific AAV case ascertainment as well as nationwide population-based studies on cause of death and studies using the database of English prescriptions dispensed in the community. Disclosures F.A. Pearce None. B. Griffiths None. C. Mukhtyar None. R. Al-Jayoussi None. R.A. Watts None. J. Aston None. M. Bythell None. S. Stevens None. P.C. Lanyon None.


2017 ◽  
Vol 25 (6) ◽  
pp. 635-644 ◽  
Author(s):  
Katia Jakovljevic Pudla Wagner ◽  
Silvia Ozcariz ◽  
Francieli Cembranel ◽  
Antonio Fernando Boing ◽  
Albert Navarro ◽  
...  

Blood ◽  
2020 ◽  
Vol 135 (4) ◽  
pp. 261-268 ◽  
Author(s):  
Jakob Werner Hansen ◽  
Dorthe Almind Pedersen ◽  
Lisbeth Aagaard Larsen ◽  
Simon Husby ◽  
Signe Bedsted Clemmensen ◽  
...  

Abstract Clonal hematopoiesis (CH) of indeterminate potential (CHIP) is defined by mutations in myeloid cancer–associated genes with a variant allele frequency of at least 2%. Recent studies have suggested a possible genetic predisposition to CH. To further explore this phenomenon, we conducted a population-based study of 594 twins from 299 pairs aged 73 to 94 years, all with &gt;20 years’ follow-up. We sequenced DNA from peripheral blood with a customized 21-gene panel at a median coverage of 6179X. The casewise concordance rates for mutations were calculated to assess genetic predisposition. Mutations were identified in 214 (36%) of the twins. Whereas 20 twin pairs had mutations within the same genes, the exact same mutation was only observed in 2 twin pairs. No significant difference in casewise concordance between monozygotic and dizygotic twins was found for any specific gene, subgroup, or CHIP mutations overall, and no significant heritability could be detected. In pairs discordant for CHIP mutations, we tested if the affected twin died before the unaffected twin, as a direct measurement of the association of having CH when controlling for familial factors. A total of 127 twin pairs were discordant for carrying a mutation, and in 61 (48%) cases, the affected twin died first (P = .72). Overall, we did not find a genetic predisposition to CHIP mutations in this twin study. The previously described negative association of CHIP mutations on survival could not be confirmed in a direct comparison among twin pairs that were discordant for CHIP mutations.


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