Article
Genetics & Heredity
Huijun Wang, Feifan Xiao, Yanyan Qian, Bingbing Wu, Xinran Dong, Yulan Lu, Guoqiang Cheng, Laishuan Wang, Kai Yan, Lin Yang, Liping Chen, Wenqing Kang, Long Li, Xinnian Pan, Qiufen Wei, Deyi Zhuang, Dongmei Chen, Zhaoqing Yin, Ling Yang, Qi Ni, Renchao Liu, Gang Li, Ping Zhang, Xu Li, Xiaomin Peng, Yao Wang, Huiyao Chen, Xiaojing Ma, Fang Liu, Yun Cao, Guoying Huang, Wenhao Zhou
Summary: This study is the largest cohort study to explore the genetic spectrum of patients with CHD in the NICU in China, and the findings may benefit future work on improving genetic screening and counseling for NICU patients with CHD.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Nutrition & Dietetics
Biyi Chen, Kendra Kattelmann, Christopher Comstock, Lacey McCormack, Howard Wey, Jessica Meendering
Summary: This study found that food parenting practices have a greater impact on children's dietary intakes than parenting styles, with positive parenting practices within Structure significantly related to healthier children's intakes. Children with authoritative parents consumed more fruits compared to children with authoritarian or indulgent parents.
Article
Psychology, Multidisciplinary
Cassandra K. Dittman, Madeline Sprajcer, Emma L. Turley
Summary: This narrative review examines the impact of gendered parenting on adolescent gender development. Existing research suggests that gendered parenting may influence adolescents' gender role attitudes and gender-typed behaviors.
CURRENT PSYCHOLOGY
(2023)
Article
Genetics & Heredity
Julien H. Park, Jiraporn Ousingsawat, Ines Cabrita, Ruth E. Bettels, Joerg Grosse-Onnebrink, Christian Schmalstieg, Saskia Biskup, Janine Reunert, Stephan Rust, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt
Summary: This study identified a potentially fatal disorder of TMEM16A deficiency, which abolishes calcium-activated Cl- currents in secretory epithelia. Secondary impairment of CFTR function did not result in a CF phenotype.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Ashley Kahen, Haluk Kavus, Alexa Geltzeiler, Catherine Kentros, Cora Taylor, Elizabeth Brooks, LeeAnne Green Snyder, Wendy Chung
Summary: Pathogenic variants in SLC6A1 are associated with a clinical phenotype of developmental delay, behavior problems, and seizures. Understanding the genotype-phenotype correlation within SLC6A1 may provide opportunities to develop new treatments for GABA-related conditions.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Multidisciplinary Sciences
Rafael Salom, Luis Miguel Aras, Jessica Pinero, Jon Andoni Dunabeitia
Summary: Caring for children with DEE is challenging for primary caregivers, impacting their quality of life and support network. Quantitative data is needed to address their needs. A database was developed using CRESIA to measure the psychosocial impact and assess caregivers' well-being.
Article
Psychology, Multidisciplinary
Ru Zhao, Gaofei Ju
Summary: With the acceleration of social transformation and mediatization, urban women's parenting practices have become an important factor affecting demographic structure and national development. The global COVID-19 pandemic has further facilitated the emergence of Internet moms who rely on online platforms for parenting interactions. This research examines the impact of urban women's Internet practices on parenting psychology and behaviors during the pandemic and how media technologies empower them in their role as mothers. Through participant observation and in-depth interviews with 90 mothers born after 1980/1990 from various industries across China, the study highlights the changing influence of Internet-based parenting practices on Chinese urban women's daily lives. It reveals that social media, as a powerful tool during the pandemic, has provided a new platform for urban women to find information, support each other, and reshape their parenting views.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Genetics & Heredity
Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Spross, Frederic Maxime Vaz, Susanne G. Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Luebke, Hitesh Shah, Ali Al Kaissi, Katta M. Girisha, Barbara Plecko
Summary: This study reports four affected individuals from two unrelated consanguineous families with MPS-related features, showing additional cardiac and ophthalmological abnormalities in some cases. The detection of mild elevation of a specific GAG in some subjects suggests a novel subtype of mucopolysaccharidosis, which is proposed to be named subtype X.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Nutrition & Dietetics
Sabrina Douglas, Gerarda Darlington, John Beaton, Kirsten Davison, Jess Haines
Summary: There is an association between coparenting quality and food parenting practices among both mothers and fathers, with higher coparenting quality being linked to healthier food parenting practices in mothers and fathers. Interventions targeting food parenting practices should include fathers and consider the coparenting relationship.
Article
Genetics & Heredity
Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Faure, Veronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich
Summary: The study aimed to establish diagnostic recommendations for arthrogryposis multiplex congenita (AMC) using a nationwide cohort of children with AMC and literature data. A two-stage diagnostic process is recommended, including non-invasive investigations for classification and targeted investigations for specific patients.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto Garcia-Minaur, Maria Angeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-Del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begona De Azua, Jesus Eiris, Juan Jose Garcia-Penas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernandez-Jaen, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-Gonzalez, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
Summary: This study investigated 67 patients with KBG syndrome and proposed new clinical diagnostic criteria based on the findings.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Gastroenterology & Hepatology
Meredith A. J. Hullar, Isaac C. Jenkins, Timothy W. Randolph, Keith R. Curtis, Kristine R. Monroe, Thomas Ernst, John A. Shepherd, Daniel O. Stram, Iona Cheng, Bruce S. Kristal, Lynne R. Wilkens, Adrian Franke, Loic Le Marchand, Unhee Lim, Johanna W. Lampe
Summary: This study investigated the association of gut microbiome with hepatic adiposity among different ethnicities. The research found that NAFLD patients from various ethnic groups exhibited differences in bacterial composition and metabolism, but shared similar bacterial metabolic pathways.
Article
Endocrinology & Metabolism
Rebecca J. Gordon, Helen M. Pappa, Sridhar Vajapeyam, Robert Mulkern, Kirsten Ecklund, Scott B. Snapper, Catherine M. Gordon
Summary: In this study, a new mechanism affecting osteogenesis in patients with Crohn's disease was evaluated. The results showed increased marrow adiposity in children with Crohn's disease, especially early in the course of the disease. In addition, patients had decreased bone density, increased fat mass, and lower lean mass compared to pediatric reference data.
Article
Psychology, Developmental
Yasmin Ahmadzadeh, Thalia C. Eley, Laurie Hannigan, Cathy Creswell, Paul Lichtenstein, Erica Spotts, Jody Ganiban, Jenae Neiderhiser, Fruhling Rijsdijk, Tom A. McAdams
Summary: Parental criticism is associated with adolescent internalising symptoms even after controlling for shared genes. While some undetected genetic effects may exist between generations, the directionality of non-genetic causal effects remains unclear.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2022)
Article
Genetics & Heredity
Ryan W. Gates, Louanne Hudgins, Lynne C. Huffman
Summary: Genetic testing is widely used in medicine, but studies have shown that healthcare providers are often uncomfortable ordering it. There is currently no standardized training program for resident physicians to learn about genetic testing, highlighting the lack of genetics education in pediatrics residency programs.
GENETICS IN MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Uriel R. Felsen, Aileen Tlamsa, Lorlette Moir, Shuchin Shukla, Devin Thompson, Jeffrey M. Weiss, Moonseong Heo, Alain H. Litwin
Summary: A retrospective study conducted at a hospital in the Bronx, New York, found lower HIV screening rates compared to HCV, with an adjusted risk difference of 22.0%. The study suggested that differences in perception of the two viruses may have contributed to the disparity in screening rates, despite the sole difference in screening processes being the consent requirement.
PUBLIC HEALTH REPORTS
(2022)
Article
Immunology
Mirinda Ann Gormley, Matthew J. Akiyama, Lior Rennert, Kerry A. Howard, Brianna L. Norton, Irene Pericot-Valverde, Sam Muench, Moonseong Heo, Alain H. Litwin
Summary: The study examines the changes in health-related quality of life (HRQOL) throughout and after hepatitis C virus (HCV) treatment for people who inject drugs (PWID) achieving sustained virologic response (SVR).
CLINICAL INFECTIOUS DISEASES
(2022)
Article
Public, Environmental & Occupational Health
Michael L. Rinke, David G. Bundy, Moonseong Heo, Lisa Saiman, Barbara Rabin, Philip Zachariah, Rebecca E. Rosenberg, Patricia DeLaMora, Parsa Mirhaji, Michael Drasher, Elizabeth Klein, Oghale Obaro-Best, William J. H. Ford, Diana Zarowin, Alexandre Peshansky, Suzette O. Oyeku
Summary: Our study found a higher incidence of morbidity associated with SSI following ambulatory surgery in children. Variables such as wound class, insurance type, and day of surgery were significantly associated with an increased risk of infection.
INFECTION CONTROL AND HOSPITAL EPIDEMIOLOGY
(2022)
Article
Health Policy & Services
Hadi J. Minhas, Matthew J. Akiyama, Brianna L. Norton, Moonseong Heo, Julia H. Arnsten, Alain H. Litwin
Summary: This study investigated the adherence to DAA therapy among HCV mono-infected and HIV/HCV co-infected people who inject drugs, as well as the impact of HCV treatment on ART adherence and HIV outcomes. The results showed no significant difference in DAA adherence, ART adherence, CD4 counts, or HIV viral loads among the two groups.
AIDS CARE-PSYCHOLOGICAL AND SOCIO-MEDICAL ASPECTS OF AIDS/HIV
(2022)
Article
Substance Abuse
Timothy A. Zeller, Taylor Beachler, Liam Diaz, Richard P. Thomas, Moonseong Heo, Jennifer Lanzillotta-Rangeley, Alain H. Litwin
Summary: Community attitudes towards syringe exchange programs (SEPs) in rural areas are influenced by individuals' support for these programs, their awareness of opioid use disorder as a chronic illness, their attitudes towards individuals with OUD, and their support for other harm reduction strategies.
JOURNAL OF ADDICTIVE DISEASES
(2022)
Article
Anesthesiology
Marcus A. Bachhuber, Denis Nash, William N. Southern, Moonseong Heo, Matthew Berger, Mark Schepis, Olivia K. Sugarman, Chinazo O. Cunningham
Summary: The study found that reducing the default dispense quantity can effectively reduce the quantity of opioid analgesics prescribed in dentistry practices. However, caution is needed in choosing the default value.
Article
Nutrition & Dietetics
Steven B. Heymsfield, David S. Ludwig, Julia M. W. Wong, Cassidy McCarthy, Moonseong Heo, John Shepherd, Cara B. Ebbeling
Summary: Two studies with participants who were overweight and obese showed that the chemical proportions of FFM may change after short-term weight loss, particularly in terms of bone mineral and protein composition. This observation highlights the need for caution when using widely used body composition models and methods, especially in clinical trials where FFM is used as a safety signal or for metabolic evaluations.
EUROPEAN JOURNAL OF CLINICAL NUTRITION
(2023)
Article
Gastroenterology & Hepatology
Moonseong Heo, Irene Pericot-Valverde, Jiajing Niu, Brianna L. Norton, Matthew J. Akiyama, Shadi Nahvi, Julia H. Arnsten, Alain H. Litwin
JOURNAL OF VIRAL HEPATITIS
(2023)
Article
Gastroenterology & Hepatology
Madhuri Martin, Prerana J. Roth, Jiajing Niu, Irene Pericot-Valverde, Moonseong Heo, Akhila Padi, Brianna L. Norton, Matthew J. Akiyama, Alain H. Litwin
Summary: This study examined the characteristics and correlates of alcohol use among people who inject drugs (PWID) receiving hepatitis C virus (HCV) treatment. The results showed that HCV treatment was associated with decreased alcohol consumption, particularly in the modified directly observed therapy (mDOT) group.
JOURNAL OF VIRAL HEPATITIS
(2022)
Article
Psychology, Biological
Irene Pericot-Valverde, Jin H. Yoon, Kaileigh A. Byrne, Moonseong Heo, Jiajing Niu, Alain H. Litwin, Diann E. Gaalema
Summary: The study found that short-term nicotine deprivation led to increased delay discounting for the drug of choice among young ENDS users, indicating a preference shift towards smaller, immediate rewards. These findings support the utility of the current model as a platform to explore interventions that can mitigate these preference shifts.
EXPERIMENTAL AND CLINICAL PSYCHOPHARMACOLOGY
(2023)
Article
Substance Abuse
Judith I. Tsui, Paula J. Lum, Lynn E. Taylor, Shruti H. Mehta, Judith Feinberg, Arthur Y. Kim, Brianna L. Norton, Jiajing Niu, Moonseong Heo, Julia Arnsten, Irene Pericot-Valverde, Aurielle Thomas, Kendra L. Blalock, Andrea Radick, Cristina Murray-Krezan, Kimberly Page, Alain H. Litwin
Summary: This study aimed to describe the injection practices of persons who inject drugs (PWID) during hepatitis C virus (HCV) treatment with direct-acting antivirals (DAAs) and assess whether these practices were associated with treatment failure. The study found that receptive sharing of injecting equipment and reuse of one's own equipment were associated with not achieving a sustained virologic response.
DRUG AND ALCOHOL DEPENDENCE
(2023)
Article
Primary Health Care
T. Aaron Zeller, Katherine Beben, Marianna Kong, Ildi Martonffy, Seth Patterson, Weldon Deas, Moonseong Heo, Drew M. Keister
Summary: The objective of this study was to establish a consensus definition of Longitudinal Interleaved Residency Training (LIRT) in family medicine. A national workgroup utilized the Delphi method to reach a consensus definition between October 2021 and March 2022. LIRT is a curricular design and program structure that offers graduated, concurrent clinical experiences in the core competencies of the specialty, enhances long-term retention of knowledge, skills, and attitudes, and achieves program objectives through longitudinal curricular scheduling and interleaving with spaced repetition.
Article
Substance Abuse
Moonseong Heo, Taylor Beachler, Laksika B. Sivaraj, Hui-Lin Tsai, Ashlyn Chea, Avish Patel, Alain H. Litwin, T. Aaron Zeller
Summary: Rural areas in the US, including Oconee County in South Carolina, are greatly affected by the opioid overdose epidemic. Lack of harm reduction and recovery resources exacerbate the problem. This study aimed to identify factors associated with support for harm reduction and recovery services in the community.
SUBSTANCE ABUSE TREATMENT PREVENTION AND POLICY
(2023)
Article
Gastroenterology & Hepatology
Alain H. Litwin, Paula J. Lum, Lynn E. Taylor, Shruti H. Mehta, Judith I. Tsui, Judith Feinberg, Arthur Y. Kim, Brianna L. Norton, Moonseong Heo, Julia Arnsten, Paul Meissner, Alison Karasz, M. Diane Mckee, John W. Ward, Nirah Johnson, Irene Pericot-Valverde, Linda Agyemang, Ellen S. Stein, Aurielle Thomas, Courtney Borsuk, Kendra L. Blalock, Samuel Wilkinson, Katherine Wagner, Jillian Roche, Cristina Murray-Krezan, Jessica Anderson, Vanessa Jacobsohn, Anne F. Luetkemeyer, Oluwaseun Falade-Nwulia, Kimberly Page
Summary: This study compares two patient-centered models of HCV care among people who inject drugs and finds that both models can effectively improve the success rate of treatment. Although medication adherence is higher in the modified directly observed therapy group, there is no significant difference in treatment success rate between the two groups.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2022)
Article
Medicine, Research & Experimental
Irene Pericot-Valverde, Angelica Perez, Moonseong Heo, Ashley Coleman, Erik Ortiz, Krupa Merchant, Trish Melling, Alain Litwin
Summary: The OVERCOME study aims to test an integrated intervention combining CBT4CBT and Recovery Coaching for reducing substance use and increasing buprenorphine adherence, with the potential to reduce mortality among people with OUD.
CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS
(2022)