Results 71 to 80 of about 77,361 (253)

Complete remission of depression and anxiety using a ketogenic diet: case series

Frontiers in Nutrition
BackgroundThere is little data that describe the use of ketogenic metabolic therapy to achieve full remission of major depression and generalized anxiety disorder in clinical practice.
Lori Calabrese, Rachel Frase, Mariam Ghaloo   +2 more
doaj   +1 more source

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet Journal of Rare Diseases, 2019
Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick ...
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Palatable‐Food–Driven Top‐Down Circuit Inhibits PVNCRF Activity to Mitigate Stress Via Peri‐PVNCRFR1 Neurons

Advanced Science, EarlyView.
Palatable food alleviates stress and prevents anxiety. This study uncovers a dedicated neural pathway: dopamine release in the PFC activates D1R neurons, whose projections to the peri‐PVN engage a population of anxiolytic CRFR1 neurons. These neurons then inhibit stress‐induced hyperactivity of PVNCRF neurons, providing a circuit‐level explanation for ...
Yuchuan Hong, Shirui Jun, Tianjiao Deng, Gaojie Shao, Dan Liu, Yi Sun, Yan Chen, Qian Xiao, Jie Shao, Sheng Wang, Tianwen Huang, Fan Yang, Jie Tu   +12 more
wiley   +1 more source

Astrocytic FDX1 Contributes to Copper Dyshomeostasis‐associated Synaptic Dysfunction in Depression and Is Modulated by Exercise

Advanced Science, EarlyView.
Chronic stress disrupts copper homeostasis and promotes copper accumulation in the prelimbic cortex, leading to astrocytic FDX1 upregulation. Elevated astrocytic FDX1 impairs calcium signaling, induces structural atrophy, and disrupts synaptic function, contributing to depressive‐like behaviors. Physical exercise reverses these alterations by restoring
Lina Gao, Rongji Hui, Zhibo Tang, Tao Feng, Zhihang Hu, Xiaoqing Zhang, Ping Jiang, Hui Zhao, Kwok‐Fai So, Tianyuan Luo, Yanzhou Chang, Lan Yan   +11 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Can melatonin prevent or improve metabolic side effects during antipsychotic treatments?

Neuropsychiatric Disease and Treatment, 2017
Maria-Cristina Porfirio,1 Juliana Paula Gomes de Almeida,2 Maddalena Stornelli,1 Silvia Giovinazzo,1 Diane Purper-Ouakil,3 Gabriele Masi4 1Unit of Child Neurology and Psychiatry, “Tor Vergata” University of Rome, Italy; 2Unit of Child ...
Porfirio MC, Gomes de Almeida JP, Stornelli M, Giovinazzo S, Purper-Ouakil D, Masi G   +5 more
doaj  

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Cerebellar dysregulation and heterogeneity of mood disorders

Neuropsychiatric Disease and Treatment, 2014
Edward H Tobe Department of Psychiatry, Cooper Medical School of Rowan University, Camden, NJ, USA Abstract: This paper discusses diverse studies to consider the hypothesis that cerebellar pathology supports the heterogeneous metabolic pathologies of ...
Tobe EH
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