Day: February 2, 2024

Categories : Mental HealthTags :

Higher Than Expected Levels of Psychosis Spectrum Symptoms among Youth

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Photo by Andrew Neel on Unsplash

A new study published in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging has found evidence that Psychosis Spectrum Symptoms (PSS) are often present in youth accessing mental health services.

From a profile of the initial 417 youth aged 11–24 participating in the study, 50% were shown to meet the threshold for Psychosis Spectrum Symptoms, a number that study co-lead Associate Professor Kristin Cleverley says was higher than expected, meaning there is a large number of children with these symptoms accessing mental health services.

Cleverley, of the Lawrence Bloomberg Faculty of Nursing Cleverley, says that what is novel about this study is that researchers are assessing early indicators that might predict whether someone is more at risk of developing Psychosis Spectrum Disorder, and examine whether there is a point at which earlier intervention for that youth could be more effective.

“Traditionally, early psychosis care starts when there is a serious presentation of psychotic symptoms, which usually occurs in the late teen years,” says Cleverley. “The current approach to identifying children at risk of developing a psychotic disorder is only about five percent effective, but with this study we can start to assess certain patterns or changes in function that can signal if an earlier intervention may be beneficial.”

Psychosis Spectrum Disorder can be extremely disabling, and is linked to cognitive impairment, long-term disability, and higher rates of death by suicide than other mental illnesses. Even without a diagnosis of psychosis, Psychosis Spectrum Symptoms can severely affect youth.

This study is one of three projects being led as part of the Toronto Adolescent and Youth (TAY) Cohort Study that is set to follow 1500 youth over the course of five years. The goal of the cohort study is to better understand the populations of youth seeking mental health treatment, how their mental health symptoms and functioning change over time, and whether early predictors of psychosis spectrum disorder can be determined.

This study was co-designed with patient and caregivers in addition to involving extensive engagement from clinicians. A novel aspect of the TAY Cohort Study is youth are given access to a patient-facing dashboard of their research results that is also integrated into their clinical record.

“We wanted to ensure that the study was embedded in the clinical program so that research assessments could be immediately utilised within clinical practice, including supporting decisions about interventions or services,” says Cleverley.

This longitudinal study will include a follow-up every six months, and will provide researchers access to information about whether symptoms in these youth become chronic or episodic, and whether these changes are related to developmental milestones or environmental stressors, or changes to mental health services.

“Our goal with this research is really to characterise this population better so that we can identify new strategies that will complement existing strategies for early identification of youth at risk of psychosis,” says Cleverley. “It also creates an important opportunity for graduate students and researchers to develop sub-studies for this sample that will enable further research to improve youth mental health outcomes.”

Source: University of Toronto

Categories : Genetics PaediatricsTags :

Gene Identified for Rare Disorder Involving Extra Fingers and Toes

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Photo by Jonathan Borba on Unsplash

A rare disorder which causes babies to be born with extra fingers and toes and a range of birth defects has been identified in new research published in the American Journal of Human Genetics. The disorder, which has not yet been named, is caused by a genetic mutation in a gene called MAX.

As well as extra digits – polydactyly — it leads to a range of symptoms relating to ongoing brain growth, such as autism. The research marks the first time this genetic link has been identified. It has also found a molecule that could potentially be used to treat some of the neurological symptoms and prevent any worsening of their condition. However, more research is needed to test this molecule before it can be used as a treatment.

Co-led by the University of Leeds, the study focuses on three individuals with a rare combination of physical traits, namely polydactyly, and a much larger than average head circumference – known as macrocephaly.

The individuals share some other characteristics, including delayed development of their eyes which results in problems with their vision early in life.

The researchers compared the DNA of these individuals and found they all carried the shared genetic mutation causing their birth defects.

The latest research was co-led by Dr James Poulter from the University of Leeds; Dr Pierre Lavigne at Université de Sherbrooke in Québec and Professor Helen Firth at Cambridge University.

As with many rare disorders, the disorder currently has no treatments – but in this case, the researchers identified one already undergoing clinical trials which might reverse some of the mutation’s effects.

The study team has highlighted the importance of interdisciplinary research into rare diseases in giving understanding and hope of a treatment to families who often face many years of uncertainty about their child’s condition and prognosis.

The researchers now plan to look for additional patients with mutations in MAX to better understand the disorder and investigate whether the potential treatment improves the symptoms caused by the mutation.

Source: University of Leeds

Categories : Cardiovascular Disease Diseases, Syndromes and ConditionsTags :

SGLT-2 Inhibitor Use Associated with Decreased Risk of Kidney Stones

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Photo by Robina Weermeijer on Unsplash

Type 2 diabetes is associated with increased risk of kidney stones, but some forms of treatment for this condition may also have the benefit of lowering risk of kidney stones. In a study led by investigators from Mass General Brigham, researchers found that there was an association between the use of sodium-glucose cotransporter 2 (SGLT2) inhibitors and a lower risk of developing kidney stones. Their findings are reported in JAMA Internal Medicine.

Rates of kidney stones are on the rise in the United States and around the world. Type 2 diabetes is associated with increased risk of kidney stones, but some forms of treatment for this condition may also have the benefit of lowering risk of kidney stones.

The study included data from three nationwide databases of patients with type 2 diabetes who were seen in routine clinical practice.

The team analysed information from 716,406 adults with type 2 diabetes who had started taking an SGLT2 inhibitor or two other classes of diabetes medications known as GLP1 receptor agonists or dipeptidyl peptidase 4 (DPP4) inhibitors.

Patients who began taking SGLT2 inhibitors had a 30% lower risk of developing kidney stones than those taking GLP1 agonists and about a 25% lower risk than those taking DPP4 inhibitors.

The findings were consistent across sex, race/ethnicity, history of chronic kidney disease and obesity.

“Our findings could help inform clinical decision making for patients with diabetes who are at risk for developing kidney stones,” said corresponding author Julie Paik, MD, ScD, MPH, of the Division of Pharmacoepidemiology and Pharmacoeconomics and the Division of Renal (Kidney) Medicine at Brigham and Women’s Hospital.

Source: Mass General Brigham

Materials provided by Mass General Brigham. Note: Content may be edited for style and length.

Journal Reference:

  1. Julie M. Paik, Helen Tesfaye, Gary C. Curhan, Heidi Zakoul, Deborah J. Wexler, Elisabetta Patorno. Sodium-Glucose Cotransporter 2 Inhibitors and Nephrolithiasis Risk in Patients With Type 2 Diabetes. JAMA Internal Medicine, 2024; DOI: 10.1001/jamainternmed.2023.7660
Categories : Paediatrics Respiratory DiseasesTags :

Appeasing the Wheezing: Determinants and Outcomes of Respiratory Disease in Childhood

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Credit: Pixabay CC0

Asthma and cystic fibrosis are diseases which affect the lungs of children and adults. Previous research has shown that genetic and environmental factors during pregnancy and early childhood can contribute to the way children and young adults are affected by these lung diseases.

In her thesis, Emma Caffrey Osvald, PhD student at Karolinska Institutet looked for new factors that may influence the development and outcomes of asthma and cystic fibrosis. In the four included studies, Emma used data from a clinical cohort and national health and demographic registers and a quality register on individuals born in Sweden to shed light on potential factors which impact the course of asthma and cystic fibrosis. Her findings should be useful when creating clinical guidelines and policies for the prevention and management of respiratory disease in children and young adults.

What are the most important results in your thesis?

“In my first study, we show that mothers with asthma have an increased likelihood of having a child with asthma and that higher lung function in pregnancy is associated with a decreased likelihood of having a child with asthma. However, asthma or lung function in the mother does not impact childhood growth. In the second study, we see that parental social standing (socioeconomic status, measured as parents’ education and income) is associated with the onset of asthma in childhood. By comparing the social standing and onset of asthma among first cousins we see that parental education may be directly linked to the onset of asthma. In the third study, we also show that there is a connection between having asthma in childhood or young adulthood and death between 1 to 25 years of age. The likelihood of death between 1 to 25 years of age is higher if the person also has a life-limiting disease but not altered by the parents social standing at the child’s birth. In the final study, we see some association between low parental social standing and severe disease and lung function decline among persons with cystic fibrosis, however low parental social standing does not impact growth. So we found that there are factors in the parents (including during the pregnancy and social standing) which impacts the onset of asthma. Asthma increases the risk of mortality between 1 to 25 years and low parental social standing is shown to be associated with severe disease and lung function decline in persons with cystic fibrosis.”

Why did you become interested in this topic?

“I have wanted to learn more about epidemiology ever since my ex-job project as a medical student and these PhD projects have allowed me, as a paediatric pulmonologist, to explore the factors which influence onset and outcomes for children and young adults with respiratory disease. Asthma and CF are two chronic diseases which we meet as part of our routine clinical practice and for me it has been really interesting to avail of both clinical data and national register data and a variety of statistical methods to further our understanding of these diseases.“

What do you think should be done in future research?

“Areas which will interest me in my future research continues to be the determinants and outcomes of respiratory disease in childhood. For me, the future of register-based research lies in the combining of clinical data with register data. There is more to explore in regards to risk factors for acute respiratory disease such as severe pneumonia and empyema, but also the outcomes for persons with asthma and CF, such as presence of comorbidity or educational attainment.”

Doctoral thesis: Appeasing the wheezing: determinants and outcomes of respiratory disease in childhood.

Source: Karolinska Institutet

Categories : Cardiovascular DiseaseTags :

Genetic Risks for ACE Inhibitor-induced Angioedema Identified

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Credit: Pixabay CC0

Angioedema is a rare but potentially life-threatening adverse reaction to ACE inhibitors. In a joint analysis of eight European study collectives, researchers for the first time conducted a genome-wide association study (GWAS) with more than 1000 affected individuals, identifying a total of three risk loci in the genome. These included a new locus that had not previously been associated with the risk of ACE inhibitor-induced angioedema. The results of the study have now been published in the Journal of Allergy and Clinical Immunology.

Angiotensin-converting enzyme (ACE) inhibitors are effective antihypertensive drugs. They block the formation of the hormone angiotensin II, which plays a central role in the development of hypertension.

On the other hand, these drugs increase the concentration of the vasoactive signalling substance bradykinin. Among other things, this can lead to acute swelling of the skin or mucous membranes.

Such swellings are generally not life-threatening – but if they affect the tongue, throat or larynx, angioedema can be life-threatening for the patient due to the potential risk of suffocation.

Research to date suggests that susceptibility to such drug-induced angioedema is influenced by hereditary as well as lifestyle and environmental factors. This led researchers from the University Hospital Bonn (UKB), the University of Bonn and the Federal Institute for Drugs and Medical Devices (BfArM) to investigate potential genetic involvement.

“However, the understanding of the underlying biological processes, ie the pathophysiology, and thus the individual risk assessment is still limited. The identification of the responsible genes will provide completely new insights here,” says Prof Markus Nöthen at the University of Bonn.

Which biological processes play a role in ACE inhibitor-induced angioedema?

Based on data from eight European study collectives, the team from Bonn, together with cooperation partners, conducted the first GWAS with more than 1000 patients with ACE inhibitor-induced angioedema.

They identified a total of three loci in the genome that are associated with the risk of ACE inhibitor-induced angioedema.

“While two of the loci have already been described in previous studies, our study was the first to demonstrate a significant association for a new locus on chromosome 20,” explains corresponding author Prof.

Andreas Forstner from the Institute of Human Genetics at the UKB and the University of Bonn and at the Institute of Neuroscience and Medicine (INM-1) at the Research Center Jülich.

“Through further bioinformatic analyses, we were able to identify several candidate genes at the three risk loci indicating that genetic changes in the bradykinin, coagulation and fibrinolysis signalling play a role in the development of this type of angioedema,” adds first author Carina Mathey, doctoral student at the Institute of Human Genetics at the UKB and the University of Bonn.

Source: Universitatsklinikum Bonn