Article
Clinical Neurology
Weam Fageera, Sarojini M. Sengupta, Marie-Eve Fortier, Natalie Grizenko, Svetlana Babienco, Aurelie Labbe, Ridha Joober
Summary: The study found a significant association of the TPH2 rs17110747 variant in female ADHD probands, with potential involvement in behavioral and cognitive dimensions of ADHD. Furthermore, female probands with the G/G genotype showed greater response to placebo.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Article
Biochemistry & Molecular Biology
Samuele Cortese, Minjin Song, Luis C. Farhat, Dong Keon Yon, Seung Won Lee, Min Seo Kim, Seoyeon Park, Jae Won Oh, San Lee, Keun-Ah Cheon, Lee Smith, Corentin J. Gosling, Guilherme V. Polanczyk, Henrik Larsson, Luis A. Rohde, Stephen V. Faraone, Ai Koyanagi, Elena Dragioti, Joaquim Radua, Andre F. Carvalho, Jae Il Shin, Marco Solmi
Summary: Data on ADHD incidence, prevalence, and burden from the Global Burden of Disease study from 1990 to 2019 were presented. The study found that the global age-standardized incidence and prevalence of ADHD were 0.061% and 1.13% respectively in 2019. From 1990 to 2019, there was a decrease in global age-standardized prevalence and incidence. Males had approximately 2.5 times higher incidence, prevalence, and burden compared to females.
MOLECULAR PSYCHIATRY
(2023)
Article
Psychiatry
Weam Fageera, Boris Chaumette, Marie-Eve Fortier, Natalie Grizenko, Aurelie Labbe, Sarojini M. Sengupta, Ridha Joober
Summary: This study investigated the impact of genetic variations in the COMT gene on the methylation levels of CpG sites and their effect on treatment responses in children with ADHD. The findings suggest specific genetic variants are associated with higher levels of methylation, which in turn may influence responses to methylphenidate and placebo in ADHD treatment. These preliminary results provide evidence for the involvement of epigenetic variation of COMT loci in modulating treatment responses in ADHD.
JOURNAL OF PSYCHIATRIC RESEARCH
(2021)
Article
Psychology, Multidisciplinary
Morgan M. Grotewiel, Megan E. Crenshaw, Amelia Dorsey, Elizabeth Street
Summary: Hyperfocus and flow are intense concentration experiences associated with reduced perception of irrelevant stimuli and improved task performance. Hyperfocus has been historically seen as a symptom of ADHD, autism, or schizophrenia, while flow is regarded as an enjoyable experience in positive psychology. Recent studies suggest that hyperfocus and flow may be the same phenomenon viewed from different perspectives.
CURRENT PSYCHOLOGY
(2023)
Article
Psychology, Developmental
Selina Tuerk, Simon Harbarth, Sebastian Bergold, Ricarda Steinmayr, Eva Neidhardt, Inge Kamp-Becker, Monika Equit, Katja Wunsch, Hanna Christiansen
Summary: The study aimed to validate the German version of the Conners Early Childhood (EC)(TM) among German-speaking children. Exploratory factor analyses (EFAs) yielded different factors than the original scales, but confirmatory factor analyses (CFAs) revealed acceptable to good model fits. The use of the American factor structure was justified and recommended for international research on psychopathology in early childhood.
JOURNAL OF ATTENTION DISORDERS
(2021)
Article
Multidisciplinary Sciences
Hsin-Yi Fan, Cheuk-Kwan Sun, Yu-Shian Cheng, Weilun Chung, Ruu-Fen Tzang, Hsien-Jane Chiu, Chun-Ning Ho, Kuo-Chuan Hung
Summary: This study provides a systematic review and analysis of the effectiveness of electroencephalogram-based neurofeedback (EEG-NF) in treating the core symptoms of attention-deficit hyperactivity disorder (ADHD) in adolescents/adults. The results suggest that EEG-NF can effectively improve inattention symptoms, but its effectiveness in reducing hyperactivity/impulsivity remains inconclusive.
SCIENTIFIC REPORTS
(2022)
Article
Psychology, Multidisciplinary
Maria Teresa Daza Gonzalez, Jessica Phillips-Silver, Remedios Lopez Liria, Nahuel Gioiosa Maurno, Laura Fernandez Garcia, Pamela Ruiz-Castaneda
Summary: The study aims to determine whether deaf children exhibit higher rates of ADHD and conduct disorder behaviors compared to hearing children. The findings show that deaf children have significantly higher rates of these behaviors, with a negative correlation found between receptive vocabulary and behaviors associated with conduct disorder in deaf children. However, inhibitory control scores did not differ between deaf and hearing children.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Psychiatry
Dara E. Babinski, Erika F. H. Saunders, Fan He, Duanping Liao, Amanda M. Pearl, Daniel A. Waschbusch
Summary: This study examined the diagnostic indicators, clinical characteristics, and functional impairment associated with adult ADHD using electronic medical records and self-report measures. The results showed a significant difference in prevalence of ADHD between self-report screening and medical records. ADHD was found to contribute to functional impairment even when controlling for other psychiatric comorbidities.
PSYCHIATRY RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
E. M. Bruxel, C. R. Moreira-Maia, G. C. Akutagava-Martins, T. P. Quinn, M. Klein, B. Franke, M. Ribases, P. Rovira, C. Sanchez-Mora, D. B. Kappel, N. R. Mota, E. H. Grevet, C. H. D. Bau, M. Arcos-Burgos, L. A. Rohde, M. H. Hutz
Summary: This study conducted a meta-analysis to investigate the association between ADGRL3 gene variants and ADHD susceptibility in children and adults, finding significant correlation in children but not in adults. The results suggest that ADGRL3 gene is predominantly associated with childhood ADHD.
MOLECULAR PSYCHIATRY
(2021)
Review
Pediatrics
Nader Salari, Hooman Ghasemi, Nasrin Abdoli, Adibeh Rahmani, Mohammad Hossain Shiri, Amir Hossein Hashemian, Hakimeh Akbari, Masoud Mohammadi
Summary: This study investigated the prevalence of ADHD in children and adolescents. The results showed that the prevalence of ADHD was 7.6% (95% confidence interval: 6.1-9.4%) in children aged 3-12 years, and 5.6% (95% confidence interval: 4.8-7%) in teenagers aged 12-18 years. The study also found that the prevalence of ADHD in children and adolescents according to the DSM-V criterion is higher than previous diagnostic criteria.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Article
Psychology, Multidisciplinary
Erica D. Musser, Stephanie S. J. Morris, Kathleen Feeney, Rosario Pintos Lobo, Edward F. Ester
Summary: Inattention is a key symptom of ADHD, but the mechanisms underlying it are unclear. More specific approaches are needed to link disruptions in cognitive performance with ADHD behaviors. A pilot study found that even typically developing children did not maximally extract and combine information to maximize rewards in a cognitive task targeting attention selection mechanisms.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Pediatrics
Li-Fan Pai, Der-Shiun Wang, Wan-Fu Hsu, Shao-Wei Huang, Chi-Hsiang Chung, Shyi-Jou Chen, Wu-Chien Chien, Der-Ming Chu
Summary: This study found that children with ADHD have a higher risk of central precocious puberty. Early referral to a pediatric endocrinologist for evaluation can lead to correct diagnosis. Early intervention treatment with gonadotropin-releasing hormone agonist may improve final height in children with central precocious puberty.
PEDIATRIC RESEARCH
(2022)
Review
Multidisciplinary Sciences
Jung Tae Kim, Kibong Kim, Lin Ang, Hye Won Lee, Jun-Yong Choi, Myeong Soo Lee
Summary: This article describes a systematic review that aims to evaluate the effectiveness of acupuncture as a treatment for ADHD. The study will conduct literature searches in multiple databases and analyze the selected studies using the Cochrane Risk of Bias Assessment Tool. The findings of this review will be used to support relevant health policies and practices.
Article
Medicine, General & Internal
Johannes Lieslehto, Jari Tiihonen, Markku Laehteenvuo, Ellenor Mittendorfer-Rutz, Antti Tanskanen, Heidi Taipale
Summary: This study investigated the impact of pharmacotherapy on suicide risk in patients with borderline personality disorder (BPD). The results indicated that ADHD medication may reduce the risk of suicide, while mood stabilizers and antidepressants may increase the risk. The findings suggest that benzodiazepines should be used with caution due to their association with increased suicide risk in patients with BPD.
Article
Psychiatry
Alize J. Ferrari, Damian F. Santomauro, Ana M. Mantilla Herrera, Jamileh Shadid, Charlie Ashbaugh, Holly E. Erskine, Fiona J. Charlson, Louisa Degenhardt, James G. Scott, John J. McGrath, Peter Allebeck, Corina Benjet, Nicholas J. K. Breitborde, Traolach Brugha, Xiaochen Dai, Lalit Dandona, Rakhi Dandona, Florian Fischer, Juanita A. Haagsma, Josep Maria Haro, Christian Kieling, Ann Kristin Skrindo Knudsen, G. Anil Kumar, Janni Leung, Azeem Majeed, Philip B. Mitchell, Modhurima Moitra, Ali H. Mokdad, Mariam Molokhia, Scott B. Patten, George C. Patton, Michael R. Phillips, Joan B. Soriano, Dan J. Stein, Murray B. Stein, Cassandra E. Szoeke, Mohsen Naghavi, Simon Hay, Christopher J. L. Murray, Theo Vos, Harvey A. Whiteford
Summary: The Global Burden of Diseases Study in 2019 showed that mental disorders remained among the top ten leading causes of burden worldwide, with no reduction in burden since 1990. The majority of the burden in disability-adjusted life-years (DALYs) came from years lived with disability (YLDs).
Article
Pediatrics
Stuart L. Goldstein, Enrico Vidal, Zaccaria Ricci, Fabio Paglialonga, Licia Peruzzi, Mario Giordano, Nicola Laforgia, Claudio Ronco
Summary: This study compared the severity of illness and outcomes of pediatric CKRT patients from two different registries, and found that patients using CARPEDIEM had higher survival rates, indicating a potential advantage of CARPEDIEM in pediatric CKRT.
PEDIATRIC NEPHROLOGY
(2022)
Correction
Pediatrics
Stuart L. Goldstein, Enrico Vidal, Zaccaria Ricci, Fabio Paglialonga, Licia Peruzzi, Mario Giordano, Nicola Laforgia, Claudio Ronco
PEDIATRIC NEPHROLOGY
(2022)
Review
Pediatrics
William Morello, Federica Alessandra Vianello, Emanuele Proverbio, Licia Peruzzi, Andrea Pasini, Giovanni Montini
Summary: This study examined SARS-CoV-2 infections in children with idiopathic nephrotic syndrome (INS) and found that these children are not at higher risk of severe COVID-19 compared to other children. Most cases reported had mild symptoms, with some experiencing relapses that responded well to steroid treatment.
PEDIATRIC NEPHROLOGY
(2022)
Article
Genetics & Heredity
Filomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri, Simona Amenta, Ettore Candida, Cristina Grippaudo, Ettore Lo Cascio, Alessia Vita, Federica Tiberio, Alessandro Arcovito, Wanda Lattanzi, Maurizio Genuardi, Pietro Chiurazzi
Summary: Craniosynostosis is a group of genetic diseases caused by the premature fusion of skull bones, with common types including Crouzon, Apert, and Pfeiffer syndromes. These syndromes have different clinical manifestations and are inherited through autosomal dominant inheritance. The FGFR2 gene is a key gene responsible for these syndromes, with mutations leading to varying clinical phenotypes.
Review
Biochemistry & Molecular Biology
Maria Arnedo, Angela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, Maria Jesus Pablo, Paulino Gomez-Puertas, Feliciano J. Ramos, Gloria Bueno-Lozano, Juan Pie, Beatriz Puisac
Summary: The Schuurs-Hoeijmakers syndrome is a rare autosomal dominant disease caused by mutations in the PACS1 gene. It is characterized by neurodevelopment delay, seizures, and a recognizable facial phenotype. Targeting the client proteins of the mutated protein could be a potential therapeutic approach to reduce its toxic effect.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Transplantation
Alessandra Agnese Grossi, Mehmet Sukru Sever, Rachel Hellemans, Christophe Mariat, Marta Crespo, Bruno Watschinger, Licia Peruzzi, Erol Demir, Arzu Velioglu, Ilaria Gandolfini, Gabriel C. Oniscu, Luuk Hilbrands, Geir Mjoen
Summary: Living donation challenges the ethical principle of non-maleficence as it involves exposing healthy individuals to risks for the sake of others. A proposed 3-S Model for standardized informed consent (IC) in living kidney donation emphasizes the importance of safety, education, and equitable decision-making. This model provides guidance for nephrologists and transplant clinicians concerning timing, content, communication of risks, and assessment of understanding prior to donation.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Review
Pediatrics
Licia Peruzzi, Silvia Deaglio
Summary: Recent insights have revealed that the process of allorecognition and graft rejection in transplantation involves multiple pathways of both adaptive and innate immune response. Traditional markers for transplant monitoring, such as serum creatinine, proteinuria, and drug blood levels, are widely used due to their affordability and availability. Donor-specific antibodies, the most common immunological biomarkers, are included in routine post-transplant monitoring but have some reproducibility issues. New omic technologies have led to the identification of novel biomarkers, including urinary chemokines and cell-free DNA of donor origin, which show promise but are currently expensive. Transcriptomics, metabolomics, proteomics, and the study of extracellular vesicles also have the potential for early identification of rejection in a cost-effective manner. These new biomarkers are expected to integrate with traditional tools for improved rejection detection and timely intervention.
PEDIATRIC NEPHROLOGY
(2023)
Article
Genetics & Heredity
Alessia Azzara, Roberto Rumore, Fulvia Brugnoletti, Elisabetta Tabolacci, Irene Bottillo, Eugenio Sangiorgi, Fiorella Gurrieri
Summary: Asperger syndrome is a pervasive developmental disorder characterized by impaired socialization, stereotypical behavior, and defective social adaptation. Genetic background is important in the development of Asperger syndrome, and a mutation in the RADX gene may play a role as a predisposing factor. The RADX gene encodes a DNA binding factor involved in genome maintenance and its mutation could disrupt neural genes related to cell adhesion and migration.
Article
Biotechnology & Applied Microbiology
Carlo Lajolo, Concetta Cafiero, Egidio Stigliano, Francesca Romana Grippaudo, Pietro Chiurazzi, Cristina Grippaudo
Summary: This study investigated the diagnosis of White Sponge Nevus (WSN) using cytology, pathology, and genetic analysis. The results showed that cytology and pathology had similar outcomes, demonstrating the effectiveness of cytology in differential diagnosis. Additionally, genetic analysis identified at least 6 rare variants in the KRT4 and KRT13 genes in each patient, partially contributed by both unaffected parents. Therefore, oral exfoliative cytology using Thin Prep and genetic analysis are sufficient for accurate diagnosis of WSN, serving as a non-invasive alternative to incisional biopsy.
BIOENGINEERING-BASEL
(2023)
Article
Medicine, General & Internal
Ana Latorre-Pellicer, Laura Trujillano, Julia del Rincon, Monica Pena-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, Maria Arnedo, Beatriz Puisac, Feliciano J. Ramos, Ariadna Ayerza-Casas, Juan Pie
Summary: PACS1 neurodevelopmental disorder (PACS1-NDD) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. This study evaluated the prevalence of heart disease in PACS1-NDD patients and found that 7 out of 11 patients had heart disease. A literature review showed that approximately 42% of individuals with PACS1-NDD experienced heart disease.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace, Claudia Bagni
Summary: Fragile X syndrome (FXS) is characterized by the absence of the fragile X messenger ribonucleoprotein 1 (FMRP), resulting in increased protein synthesis and altered amyloid precursor protein (APP) processing. This study demonstrates an age-dependent dysregulation of APP processing in fibroblasts, neural precursor cells, and organoids derived from FXS individuals. Treatment with a cell-permeable peptide restores protein synthesis levels, suggesting potential therapeutic applications for FXS during a specific developmental window.
Article
Biochemistry & Molecular Biology
Elisabetta Tabolacci, Giuseppe Tringali, Veronica Nobile, Sara Duca, Michela Pizzoferrato, Patrizia Bottoni, Clementi Maria Elisabetta
Summary: This study investigates the photoprotective effects of rutin against UVA-induced damage in human skin fibroblasts. The results demonstrate that rutin improves cell viability and reduces ROS levels induced by photo-oxidative stress. These effects are attributed to rutin's modulation of the Nrf2 transcriptional pathway, resulting in increased glutathione and Bcl2/Bax ratio, and protection of mitochondrial respiratory capacity. Rutin may potentially play a cytoprotective role against UVA-induced skin damage through an antiapoptotic mechanism.
Article
Medicine, General & Internal
Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D'Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Summary: This study investigated the age-related changes and central retinal impairment in patients with EYS gene mutations. It found a positive correlation between RP stage scoring system (RP-SSS) and age, as well as a correlation between RP-SSS and central retina atrophy (CRA) area. Additionally, visual acuity and ellipsoid zone width were correlated with CRA, but not electroretinogram (ERG).
Article
Genetics & Heredity
Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti, Jan Miertus, Pietro Chiurazzi, Liborio Stuppia, Valentina Gatta, Stefano Cecchin, Matteo Bertelli, Giuseppe Marceddu
Summary: We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants according to the recommendations of ACMG and ACGS. This algorithm utilizes the VarSome API, integrates the AutoPVS1 tool for precise evaluation, and performs customized assignment of criteria. Additionally, we propose a sub-classification scheme for variants of uncertain significance and introduce a pathogenicity potential criterion for upgrading clinical significance.
Article
Urology & Nephrology
Giorgia Mandrile, Alessandra Pelle, Veronica Sciannameo, Elisa Benetti, Maria Michela D'Alessandro, Francesco Emma, Giovanni Montini, Licia Peruzzi, Michele Petrarulo, Renato Romagnoli, Corrado Vitale, Barbara Cellini, Daniela Giachino
Summary: This study from Italy provides insights into the clinical features, diagnosis, and treatment of primary hyperoxalurias. The study highlights the issue of diagnostic delay and suggests the use of metabolic screening and genotyping to improve early detection and appropriate treatment.
JOURNAL OF NEPHROLOGY
(2022)