Review
Psychology, Clinical
N. Uhlenbusch, J. Swaydan, A. Holler, B. Lowe, M. K. Depping
Summary: The study conducted a systematic review on affective and anxiety disorders in adults with different rare diseases, revealing high prevalence rates. Results emphasize the importance of supporting patients in disease adjustment for their overall health and well-being.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Health Care Sciences & Services
Zhenni Ni, Yiying Wang, Yuxing Qian
Summary: The study found that most chronic disease management apps in China have privacy policies, but the compliance rate of the policy content is low, especially in terms of information storage and protection. Furthermore, the scoring rate for rights of personal information subjects is generally low, indicating that China has a long way to go in terms of compliance around personal privacy protection.
JMIR MHEALTH AND UHEALTH
(2021)
Article
Environmental Sciences
Guillermo F. Lopez Sanchez, Jaime Mendiola Olivares, Alberto M. Torres Cantero
Summary: The objective of this study was to analyze the association between physical activity and the risk of suffering from 32 chronic conditions. The results showed that lower levels of physical activity were associated with higher risk of chronic conditions, and engaging in at least 1200 MET minutes of physical activity per week was associated with the lowest prevalence of chronic conditions.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Sport Sciences
Hamish Reid, Ashley Jane Ridout, Simone Annabella Tomaz, Paul Kelly, Natasha Jones
Summary: The benefits of physical activity for people living with long-term conditions (LTCs) are well established, while the risks are lower but perceived to be higher. Clear, consistent messaging on risk, individualized conversations, and gradual progression in activity levels are crucial in promoting physical activity in this population. Healthcare professionals should focus on addressing perceived risks and encouraging meaningful behavioral change in day-to-day practice.
BRITISH JOURNAL OF SPORTS MEDICINE
(2022)
Review
Sport Sciences
Riley C. C. Brown, Jeff S. Coombes, Klaus Jungbluth Rodriguez, Ingrid J. Hickman, Shelley E. Keating
Summary: This study aimed to investigate the effectiveness of videoconferencing exercise interventions for people with chronic diseases. The results showed that videoconferencing exercise interventions appear to be feasible and effective for improving exercise capacity and quality of life in patients with chronic diseases. However, more robust methodology is needed in future studies to improve the certainty of the evidence.
BRITISH JOURNAL OF SPORTS MEDICINE
(2022)
Article
Health Care Sciences & Services
Lingrui Liu, Sarah Christie, Maggie Munsamy, Phil Roberts, Merlin Pillay, Sheela V. Shenoi, Mayur M. Desai, Erika L. Linnander
Summary: South Africa has 7.7 million people living with HIV and launched the CCMDD program in 2014 to provide alternative access to medications for chronic diseases, including HIV. As of October 2019, CCMDD has expanded to 3,436 health facilities across 46 health districts, serving a total of 2,069,039 patients. The program has successfully engaged patients in both HIV and noncommunicable diseases, showing potential to address the rising burden of both diseases in South Africa.
BMC HEALTH SERVICES RESEARCH
(2021)
Review
Medicine, General & Internal
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Summary: Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder, but genetic diseases like CADASIL and leukodystrophies may be misdiagnosed as MS, leading to delayed treatment.
POSTGRADUATE MEDICINE
(2021)
Article
Genetics & Heredity
Peter J. Koch, Maranke Koster
Summary: Innovative ideas for treating genetic disorders have emerged in the past decade, with gene and protein replacement therapies, stem cell approaches like iPSC technology, and genome editing techniques leading the way. While promising for monogenetic disorders affecting single organs, challenges remain for diseases that affect multiple tissues and organs simultaneously. Solutions may lie in correcting phenotypes in the most severely affected tissues.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Ricky Lali, Michael Chong, Arghavan Omidi, Pedrum Mohammadi-Shemirani, Ann Le, Edward Cui, Guillaume Pare
Summary: Rare variants play a significant role in complex diseases, but identifying their associations is challenging. Researchers have proposed a method called RV-EXCALIBER, which uses large summary-level exome data to robustly calibrate rare variant burden, providing better prediction of the risk of coronary artery disease.
NATURE COMMUNICATIONS
(2021)
Review
Chemistry, Medicinal
Abdelfattah Faouzi, Valerie Gaelle Roullin
Summary: The complexity of the central nervous system is affected by the blood-brain barrier and the blood-cerebrospinal fluid barrier, disruption of which can lead to neuropathologies. Nanotechnologies offer promising therapeutic alternatives, but research in treating rare CNS diseases with nanotherapeutics is limited due to lack of interest from pharmaceutical companies.
Article
Public, Environmental & Occupational Health
Samahir Alturkistani
Summary: This study aimed to examine the correlation between healthcare administrators' chronic conditions and job absenteeism. The results indicated that there is a significant relationship between chronic heartburn, irritable bowel syndrome, severe anemia, chronic fatigue, high blood pressure or hypertension and employees' job absenteeism. Therefore, it is recommended that employers intervene and provide workplace health and wellness programs to improve employee health, reduce absenteeism rates, and increase productivity.
WORK-A JOURNAL OF PREVENTION ASSESSMENT & REHABILITATION
(2023)
Article
Health Care Sciences & Services
Nora A. Althumiri, Mada H. Basyouni, Norah AlMousa, Mohammed F. AlJuwaysim, Rasha A. Almubark, Nasser F. BinDhim, Zaied Alkhamaali, Saleh A. Alqahtani
Summary: The study conducted a nationwide survey to estimate the prevalence of obesity in Saudi Arabia, revealing a national weighted prevalence of 24.7% and an unweighted prevalence of 21.7%. Obesity was significantly associated with type 2 diabetes, hypercholesterolemia, hypertension, lung diseases, rheumatoid arthritis, sleep apnea, colon diseases, and thyroid disorders.
Review
Microbiology
Rodney R. Dietert, Janice M. Dietert
Summary: This article discusses the role of the microbiome in combating chronic diseases caused by adverse childhood experiences (ACEs) and suggests that managing the microbiome should be an integral part of healthcare and preventative medicine.
Review
Clinical Neurology
Giulia Paparella, Alfonso Fasano, Mark Hallett, Alfredo Berardelli, Matteo Bologna
Summary: Bradykinesia is a common motor abnormality observed in various neurological diseases not primarily characterized by parkinsonism. The underlying pathophysiology of bradykinesia in these conditions may be related to dysfunction of brain networks. It is suggested that a more accurate and widely used definition of bradykinesia is needed in the context of movement disorders and other neurological conditions.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Nutrition & Dietetics
Heba Almaghrbi, Mashael Al-Shafai, Maha Al-Asmakh, Hiba Bawadi
Summary: This study systematically reviewed the association between genetic risk score (GRS) of low vitamin D and different noncommunicable diseases. The results showed that genetically deprived vitamin D levels were associated with metabolic parameters, colorectal cancer overall mortality, and the risk of developing arterial fibrillation.
Review
Substance Abuse
Jordan Stellern, Ke Bin Xiao, Erin Grennell, Marcos Sanches, Joshua L. Gowin, Matthew E. Sloan
Summary: Individuals with substance use disorders have greater difficulties in emotion regulation compared to individuals without substance use disorders. This difference is evident in all subscales of the Difficulties in Emotion Regulation Scale (DERS), with the largest deficits in the Strategies and Impulse subscales. The analysis also reveals a greater use of expressive suppression in individuals with substance use disorders.
Article
Psychiatry
Na Zhu, Lisa D. Hawke, Marcos R. Sanches, Joanna Henderson
Summary: This study aimed to examine the impact of child maltreatment on mental health and substance use trajectories among adolescents. The findings revealed that adolescents who experienced maltreatment were more likely to have severe internalizing, externalizing, and substance use problems compared to those without such histories. Perceived family support and school connectedness were associated with problem trajectories, although not significant as moderators.
EARLY INTERVENTION IN PSYCHIATRY
(2023)
Article
Psychiatry
Maurice Pasternak, Zahra Shirzadi, Henk J. M. M. Mutsaerts, Erik Boot, Nancy J. Butcher, Bradley J. MacIntosh, Tracy Heung, Anne S. Bassett, Mario Masellis
Summary: This study used arterial spin labelling MRI to investigate differences in cerebral blood flow between individuals with 22q11DS and healthy controls. The results showed significantly elevated cerebral blood flow in specific brain regions of 22q11DS individuals, suggesting possible relevance to schizophrenia risk and highlighting the importance of further functional neuroimaging studies with larger sample sizes.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
(2023)
Review
Clinical Neurology
Emma N. M. M. von Scheibler, Agnies M. van Eeghen, Tom J. de Koning, Mark L. Kuijf, Janneke R. Zinkstok, Annelieke R. Muller, Therese A. M. J. van Amelsvoort, Erik Boot
Summary: This review examines the association between genetic neurodevelopmental disorders and parkinsonism, providing an overview of genetic diagnosis, clinical features, and proposed disease mechanisms. The findings indicate that parkinsonism is reported in various genetic neurodevelopmental disorders and offer insights for further research and patient management.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Genetics & Heredity
Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Solveig Oskarsdottir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald-McGinn
Summary: Early diagnosis of chromosome 22q11.2 microdeletion and its associated deletion syndrome is important. Prenatal diagnostic testing is recommended for parents or children with the microdeletion or suggestive prenatal screening results. Genetic testing using a chromosomal microarray can detect clinically relevant microdeletions. Noninvasive prenatal screening and imaging are available screening options. NIPS has a high detection rate, while prenatal imaging can detect physical features associated with the syndrome.
Article
Genetics & Heredity
Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn
Summary: This study investigated the motivation and opinions of individuals and caregivers affected by CNVs regarding research participation. It also examined their feelings of preparedness, research burden, and satisfaction. Results showed that education and altruism were the top reasons for participation, while treatment risks and side effects were the main reasons for withdrawal. Most participants reported positive research experiences.
Article
Public, Environmental & Occupational Health
Philip Gerretsen, Julia Kim, Eric E. Brown, Lena C. Quilty, Samantha Wells, Fernando Caravaggio, Jianmeng Song, Marcos Sanches, Branka Agic, Bruce G. Pollock, Ariel Graff-Guerrero
Summary: This study investigated the adherence to social distancing measures in the United States and Canada and analyzed the individual sociodemographic, COVID-19 and social distancing related, and psychological factors influencing social distancing adherence. The results showed that adherence to social distancing varied across different time periods and regions, and perceived seriousness of COVID-19, risk propensity, germ aversion, age, and social support were found to have the largest effects on social distancing adherence. Public service initiatives emphasizing the importance of social distancing and targeted interventions for specific groups can enhance public adherence to social distancing measures.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Psychiatry
M. Ishrat Husain, David J. Rodie, Athina Perivolaris, Marcos Sanches, Allison Crawford, Kyle P. Fitzgibbon, Andrea Levinson, Rose Geist, Paul Kurdyak, Brian Mitchell, David Oslin, Nadiya Sunderji, Benoit H. Mulsant, PARTNERs Study Grp
Summary: Telephone-based collaborative care (tCC) delivered by lay providers can improve outcomes for primary care patients with common mental conditions. This study found that tCC was more effective than enhanced usual care (eUC) in reducing anxiety symptoms and the number of weekly drinks in those with at-risk drinking, but did not have a significant effect on depression symptoms.
CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE
(2023)
Article
Health Care Sciences & Services
Bruna Sordi Carrara, Marcos Sanches, Sireesha Jennifer Bobbili, Simone de Godoy Costa, Alvaro Francisco Lopes de Sousa, Jacqueline de Souza, Carla Aparecida Arena Ventura
Summary: This study validated and assessed the reliability, dimensionality, and structure of the Opening Minds Stigma Scale for Health Care Providers (OMS-HC) in Brazil. A convenience sample of 199 health professionals from Family Health Units in Brazil was recruited. Exploratory factor analysis resulted in four factors with 16 items. The Cronbach's Alpha for the OMS scale was 0.74, indicating reasonable reliability. The findings contribute to the use of the scale in studying stigma among health professionals towards people with mental illness and developing anti-stigma interventions in this context.
Article
Substance Abuse
Russell C. C. Callaghan, Marcos Sanches, Julia Vander Heiden, Stephen J. J. Kish
Summary: The implementation of cannabis legalization in Canada was associated with an increase in youth cannabis-related presentations to emergency departments.
DRUG AND ALCOHOL REVIEW
(2023)
Article
Psychology, Clinical
Russell C. Callaghan, Marcos Sanches, Andrew Hathaway, Mark Asbridge, Stephen J. Kish
Summary: Canada's cannabis legalization has effectively reduced cannabis-related criminalization among adults, without significant impact on property or violent crimes.
ADDICTIVE BEHAVIORS
(2023)
Article
Genetics & Heredity
Emma N. M. M. von Scheibler, Josine C. C. Widdershoven, Denise C. P. B. M. van Barneveld, Nina Schroder, Agnies M. van Eeghen, Therese A. M. J. van Amelsvoort, Erik Boot
Summary: This study reports on hearing loss and otolaryngological conditions in adults with 22q11.2DS. The results suggest that high-frequency hearing loss is common in this population and is associated with older age and a history of chronic otitis media. The study also identified several otolaryngological conditions that may require treatment.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Genetics & Heredity
Dorinde Korteling, Jiska L. I. Musch, Janneke R. Zinkstok, Erik Boot
Summary: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a genetic deletion or variant in the RAI1 gene. A comprehensive review of the literature on adults with SMS revealed that many manifestations from childhood persist into adulthood. Adults with SMS commonly experience intellectual disability, autism spectrum and attention deficit hyperactivity disorder features, self-injurious and physical aggressive behaviors, sleep-wake disorders, and seizures. This review provides valuable insights for optimizing management strategies and investigating late-onset psychiatric and neurological comorbidities in SMS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2023)
Review
Psychology, Clinical
Bradley G. Karat, Sandhya Narikuzhy, Sarah Bonato, Marcos Sanches, Sarah Ahmed, Liangbing Liang, M. Ishrat Husain, M. Omair Husain, Saeed Farooq, Muhammad Ayub, Sean A. Kidd, Kwame Mckenzie, Farnoosh Ali, Farooq Naeem
Summary: This meta-analysis found that Cognitive Behavioral Therapy Interventions (CBIs) have a medium effect size in treating depression and anxiety in East Asian adults.
INTERNATIONAL JOURNAL OF COGNITIVE THERAPY
(2023)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)
