scholarly journals Investigation and Management of Endocrinopathies in Thalassaemia Major

2021 ◽  
Author(s):  
Kinda Al-Hourani ◽  
Jessica Lee Siew Hua ◽  
Parijat De
Keyword(s):  
Clinical Presentation ◽  
Treatment Strategies ◽  
National Standards ◽  
Population Heterogeneity ◽  
Growth Delay ◽  
Gonadal Dysfunction ◽  
Pubertal Delay ◽  
The Uk ◽  
Timing Of Onset

A combination of sub-therapeutic chelation and subsequent iron overload are regarded as the principal drivers of endocrine dysfunction in thalassaemia. The clinical presentation of endocrine complications and their timing of onset can be highly variable, in part due to population heterogeneity but also variation in chelation strategies. Endocrinopathies commonly associated with thalassaemia include: growth delay; pubertal delay; gonadal dysfunction; thyroid disorders; parathyroid and adrenal gland impairment; impaired bone metabolism; and type 2 diabetes mellitus. In this chapter we summarise the main presentations of endocrine disorder in thalassaemia, summarising their epidemiology, clinical presentation and pathophysiologic basis. Furthermore, we review screening, monitoring and treatment strategies, with particular regard to the UK Thalassaemia Society’s 2016 National Standards.

scholarly journals Newly diagnosed type 2 diabetes in an ethnic minority population: clinical presentation and comparison to other populations

2018 ◽  
Vol 6 (1) ◽  
pp. e000568 ◽  
Author(s):  
Michael Morkos ◽  
Bettina Tahsin ◽  
Louis Fogg ◽  
Leon Fogelfeld
Keyword(s):  
Type 2 Diabetes ◽  
Ethnic Minority ◽  
Diabetes Complications ◽  
Clinical Presentation ◽  
Microvascular Complications ◽  
Macrovascular Complications ◽  
Minority Population ◽  
Newly Diagnosed ◽  
The Uk

ObjectiveTo characterize the clinical presentation of newly diagnosed type 2 diabetes of ethnic minority adults in Chicago and compare with other populations.Research design and methodsCross-sectional study examining the data of 2280 patients newly diagnosed with type 2 diabetes treated between 2003 and 2013 in a large Chicago public healthcare system.ResultsMean age of the patients was 49±11.3 years, men 54.4%, African-Americans 48.1%, Hispanics 32.5%, unemployed 69.9%, uninsured 82.2%, English-speaking 75.1%, and body mass index was 32.8±7.4 kg/m2. Microvascular complications were present in 50.1% and macrovascular complications in 13.4%. There was a presence of either macrovascular or microvascular complications correlated with older age, hypertension, dyslipidemia, inactivity, speaking English, and being insured (p<0.01). Glycosylated hemoglobin A1c (HbA1c) at presentation did not correlate with diabetes complications. In our cohort, when compared with a diverse population in the UK and insured population in the USA, HbA1c at presentation was 10.0% (86 mmol/mol), 6.6% (49 mmol/mol), and 8.2% (66 mmol/mol); nephropathy was 22.2%, 16.7%, and 5.7%; retinopathy was 10.7%, 7.9%, and 1.4%; and neuropathy was 27.7%, and 6.7% in the UK (p<0.001). There were no significant differences between groups in the prevalence of macrovascular complications.ConclusionThese results show the vulnerability of underserved and underinsured patients for developing diabetes complications possibly related to a delayed diagnosis.

scholarly journals Gambling problems in bipolar disorder in the UK: Prevalence and distribution

2015 ◽  
Vol 207 (4) ◽  
pp. 328-333 ◽  
Author(s):  
Lisa Jones ◽  
Alice Metcalf ◽  
Katherine Gordon-Smith ◽  
Liz Forty ◽  
Amy Perry ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Problem Gambling ◽  
Severity Index ◽  
Gambling Problems ◽  
Rapid Cycling ◽  
Probable Significance ◽  
History Of ◽  
Gambling Severity ◽  
The Uk

BackgroundNorth American studies show bipolar disorder is associated with elevated rates of problem gambling; however, little is known about rates in the different presentations of bipolar illness.AimsTo determine the prevalence and distribution of problem gambling in people with bipolar disorder in the UK.MethodThe Problem Gambling Severity Index was used to measure gambling problems in 635 participants with bipolar disorder.ResultsModerate to severe gambling problems were four times higher in people with bipolar disorder than in the general population, and were associated with type 2 disorder (OR = 1.74, P = 0.036), history of suicidal ideation or attempt (OR = 3.44, P = 0.02) and rapid cycling (OR = 2.63, P = 0.008).ConclusionsApproximately 1 in 10 patients with bipolar disorder may be at moderate to severe risk of problem gambling, possibly associated with suicidal behaviour and a rapid cycling course. Elevated rates of gambling problems in type 2 disorder highlight the probable significance of modest but unstable mood disturbance in the development and maintenance of such problems.

scholarly journals Malnutrition in Inflammatory Bowel Diseases. What do we know today?

2021 ◽  
pp. 1-3
Author(s):  
Christina N.  Katsagoni
Keyword(s):  
Disease Control ◽  
Inflammatory Bowel Diseases ◽  
Bone Development ◽  
Treatment Modalities ◽  
Growth Delay ◽  
Refeeding Syndrome ◽  
Exclusive Enteral Nutrition ◽  
Pubertal Delay ◽  
Bowel Diseases ◽  
Inflammatory Bowel

Growth delay with height and weight impairment is a common feature of pediatric inflammatory bowel diseases (PIBD). Up to 2/3 of Crohn Disease patients have impaired weight at diagnosis, and up to 1/3 have impaired height. Ulcerative colitis usually manifests earlier with less impaired growth, though patients can be affected. Ultimately, growth delay, if not corrected, can reduce final adult height. Weight loss, reduced bone mass, and pubertal delay are also concerns associated with growth delay in newly diagnosed PIBD patients. The mechanisms for growth delay in IBD are multifactorial and include reduced nutrient intake, poor absorption, increased fecal losses, as well as direct effects from inflammation and treatment modalities. Management of growth delay requires optimal disease control. Exclusive enteral nutrition (EEN), biologic therapy, and corticosteroids are the primary induction strategies used in PIBD, and both EEN and biologics positively impact growth and bone development. Beyond adequate disease control, growth delay and pubertal delay require a multidisciplinary approach, dependent on diligent monitoring and identification, nutritional rehabilitation, and involvement of endocrinology and psychiatry services as needed. Pitfalls that clinicians may encounter when managing growth delay include refeeding syndrome, obesity (even in the setting of malnutrition), and restrictive diets. Although treatment of PIBD has improved substantially in the last several decades with the era of biologic therapies and EEN, there is still much to be learned about growth delay in PIBD in order to improve outcomes.

scholarly journals Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Julia K. Goodrich ◽  
Moriel Singer-Berk ◽  
Rachel Son ◽  
Abigail Sveden ◽  
Jordan Wood ◽  
...  
Keyword(s):  
Case Control Study ◽  
Rare Variants ◽  
Standard Of Care ◽  
Polygenic Scores ◽  
Monogenic Diseases ◽  
Metabolic Conditions ◽  
The Uk ◽  
Control Study ◽  
Polygenic Variation

AbstractHundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias.

scholarly journals Is Environmental and Occupational Particulate Air Pollution Exposure Related to Type-2 Diabetes and Dementia? A Cross-Sectional Analysis of the UK Biobank

2020 ◽  
Vol 17 (24) ◽  
pp. 9581
Author(s):  
Eirini Dimakakou ◽  
Helinor J. Johnston ◽  
George Streftaris ◽  
John W. Cherrie
Keyword(s):  
Air Pollution ◽  
Occupational Exposure ◽  
Environmental Exposure ◽  
Uk Biobank ◽  
Job Exposure Matrix ◽  
Cross Sectional ◽  
Particulate Air Pollution ◽  
The Uk ◽  
Sectional Analysis

Human exposure to particulate air pollution (e.g., PM2.5) can lead to adverse health effects, with compelling evidence that it can increase morbidity and mortality from respiratory and cardiovascular disease. More recently, there has also been evidence that long-term environmental exposure to particulate air pollution is associated with type-2 diabetes mellitus (T2DM) and dementia. There are many occupations that may expose workers to airborne particles and that some exposures in the workplace are very similar to environmental particulate pollution. We conducted a cross-sectional analysis of the UK Biobank cohort to verify the association between environmental particulate air pollution (PM2.5) exposure and T2DM and dementia, and to investigate if occupational exposure to particulates that are similar to those found in environmental air pollution could increase the odds of developing these diseases. The UK Biobank dataset comprises of over 500,000 participants from all over the UK. Environmental exposure variables were used from the UK Biobank. To estimate occupational exposure both the UK Biobank’s data and information from a job exposure matrix, specifically developed for UK Biobank (Airborne Chemical Exposure–Job Exposure Matrix (ACE JEM)), were used. The outcome measures were participants with T2DM and dementia. In appropriately adjusted models, environmental exposure to PM2.5 was associated with an odds ratio (OR) of 1.02 (95% CI 1.00 to 1.03) per unit exposure for developing T2DM, while PM2.5 was associated with an odds ratio of 1.06 (95% CI 0.96 to 1.16) per unit exposure for developing dementia. These environmental results align with existing findings in the published literature. Five occupational exposures (dust, fumes, diesel, mineral, and biological dust in the most recent job estimated with the ACE JEM) were investigated and the risks for most exposures for T2DM and for all the exposures for dementia were not significantly increased in the adjusted models. This was confirmed in a subgroup of participants where a full occupational history was available allowed an estimate of workplace exposures. However, when not adjusting for gender, some of the associations become significant, which suggests that there might be a bias between the occupational assessments for men and women. The results of the present study do not provide clear evidence of an association between occupational exposure to particulate matter and T2DM or dementia.

scholarly journals Outcome trends in people with heart failure, type 2 diabetes mellitus and chronic kidney disease in the UK over twenty years

2021 ◽  
Vol 32 ◽  
pp. 100739
Author(s):  
Claire A Lawson ◽  
Samuel Seidu ◽  
Francesco Zaccardi ◽  
Gerry McCann ◽  
Umesh T Kadam ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Heart Failure ◽  
Type 2 Diabetes ◽  
Chronic Kidney Disease ◽  
Type 2 Diabetes Mellitus ◽  
Kidney Disease ◽  
Failure Type ◽  
The Uk

Life Expectancy in Individuals With Type 2 Diabetes: Implications for Annuities

2009 ◽  
Vol 30 (3) ◽  
pp. 409-414 ◽  
Author(s):  
Hermione C. Price ◽  
Philip M. Clarke ◽  
Alastair M. Gray ◽  
Rury R. Holman
Keyword(s):  
Type 2 Diabetes ◽  
Life Expectancy ◽  
Cholesterol Level ◽  
Total Cholesterol Level ◽  
Insurance Companies ◽  
Age At Death ◽  
Life Annuity ◽  
Uk Government ◽  
The Uk

Background. Insurance companies often offer people with diabetes ‘‘enhanced impaired life annuity’’ at preferential rates, in view of their reduced life expectancy. Objective. To assess the appropriateness of ‘‘enhanced impaired life annuity’’ rates for individuals with type 2 diabetes. Patients. There were 4026 subjects with established type 2 diabetes (but not known cardiovascular or other life-threatening diseases) enrolled into the UK Lipids in Diabetes Study. Measurements. Estimated individual life expectancy using the United Kingdom Prospective Diabetes Study (UKPDS) Outcomes Model. Results. Subjects were a mean (SD) age of 60.7 (8.6) years, had a blood pressure of 141/83 (17/10) mm Hg, total cholesterol level of 4.5 (0.75) mmol/L, HDL cholesterol level of 1.2 (0.29) mmol/L, with median (interquartile range [IQR]) known diabetes duration of 6 (3—11) years, and HbA1c of 8.0% (7.2—9.0). Sixty-five percent were male, 91% white, 4% Afro-Caribbean, 5% Indian-Asian, and 15% current smokers. The UKPDS Outcomes Model median (IQR) estimated age at death was 76.6 (73.8—79.5) years compared with 81.6 (79.4—83.2) years, estimated using the UK Government Actuary’s Department data for a general population of the same age and gender structure. The median (IQR) difference was 4.3 (2.8—6.1) years, a remaining life expectancy reduction of almost one quarter. The highest value annuity identified, which commences payments immediately for a 60-year-old man with insulin-treated type 2 diabetes investing 100,000, did not reflect this difference, offering 7.4K per year compared with 7.0K per year if not diabetic. Conclusions. The UK Government Actuary’s Department data overestimate likely age at death in individuals with type 2 diabetes, and at present, ‘‘enhanced impaired life annuity’’ rates do not provide equity for people with type 2 diabetes. Using a diabetes-specific model to estimate life expectancy could provide valuable information to the annuity industry and permit more equitable annuity rates for those with type 2 diabetes.

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