Results 31 to 40 of about 88,012 (270)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Different cytokine patterns associate with melancholia severity among inpatients with major depressive disorder

Therapeutic Advances in Psychopharmacology, 2020
Background Six melancholic features (MFs) of the Hamilton Depression Rating Scale (HAM-D 6 ) represent the construct of melancholia along a continuum of severity (from least to most severe: depressed mood, work and activities, somatic symptoms, psychic ...
Lucas Primo de Carvalho Alves, Neusa Sica da Rocha   +1 more
doaj   +1 more source

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry [PDF]

, 2016
OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Brisca, Giacomo, Bruno, Claudio, Bucci, Elisabetta, Cao, Michelangelo, D'Amico, Maria Chiara, D'Angelo, Maria Grazia, Di Muzio, Antonio, Fiorillo, Chiara, Govi, Monica, Maggi, Lorenzo, Mele, Fabiano, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pegoraro, Elena, Ravaglia, Sabrina, Ricci, Giulia, Rodolico, Carmelo, Rossi, Marta, Ruggiero, Lucia, Santoro, Lucio, Sera, Francesco, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella, Vercelli, Liliana, Villa, Luisa   +30 more
core   +4 more sources

Respiratory‐Limbic Coupling via a Thalamic Circuit Alleviates Anxiety

Advanced Science, EarlyView.
This study delineates a conserved preBötCGlu→PVT→CeA circuit that gates anxiety and respiration. Activation of this circuit is anxiolytic and respiratory‐stabilizing, while its inhibition has the opposite effect. Mechanistically, PVT exerts its anxiolytic action via a disinhibitory microcircuit: its inputs preferentially target CeL GABAergic neurons ...
Shangyu Bi, Xiaoyi Wang, Huichun Luo, Ziteng Yue, Tianjiao Deng, Yuhang Liu, Xinxin Chen, Jianxu Zhao, Luo Shi, Ning Ma, Lingyan Mao, Jing Ding, Jiwen Xu, Ti‐Fei Yuan, Sheng Wang, Fang Yuan   +15 more
wiley   +1 more source

EXTREMELY LOW BIRTH WEIGHT – LIFE QUALITY FOLLOW-UP

Неонатологія, хірургія та перинатальна медицина, 2019
Follow-up of extremely low birth weight infants (
O.S. Yablon, D.Y. Vlasenko
doaj   +1 more source

Iron Deficiency in Infancy and Its Impact on Motor and Mental Development [PDF]

, 2020
Iron plays a large role in nerve myelination, dopamine neurotransmission, and neuronal metabolism. The purpose of this literary review was to investigate the connection between iron deficiency and motor and cognitive development.
Baker, Emma
core   +1 more source

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

Advanced Science, EarlyView.
Our study identifies MINAR1 as a novel regulator of cortical interneuron excitability and seizure susceptibility. MINAR1 is preferentially expressed in SST+ interneurons. Genetic ablation of MINAR1 leads to seizure hypersensitivity, reduced SST+ neuron excitability, and impaired Gαs–cAMP signaling, disrupting the E/I balance.
Wei‐Tang Liu, Zhi‐Bin Hu, Ling Hu, Yu‐Bing Wang, Qiong Zhang, Ning‐Ning Song, Xi‐Yue Liu, Jia‐Yin Chen, Hong‐Wen Zhu, Bing‐Yao Zhou, Yun‐Chao Tao, Li Zhao, Ze‐Xuan Li, Yi‐Wei Li, Jia‐Qi Chen, Si‐Xin Tu, Cong‐Cong Qi, Sai‐Dan Ding, Gang Peng, Lin Xu, Yu‐Qiang Ding   +20 more
wiley   +1 more source

The Sensitivity and Psychometric Properties of a Brief Computer-Based Cognitive Screening Battery in a Depression Clinic [PDF]

, 2007
At present, there is poor accuracy in assessing cognitive and vegetative symptoms in depression using clinician or self-rated measures, suggesting the need for development of standardized tasks to assess these functions.
Berent, Stanley, Bieliauskas, Linas A., Caveney, Angela F., Giordani, Bruno, Kerber, Kevin, Langenecker, Scott Aaron, Marcus, Sheila, Mordhorst, Matthew J., Nielson, Kristy A., Rapport, Lisa J., Yodkovik, Naomi, Young, Elizabeth A., Zubieta, Jon-Kar   +12 more
core   +1 more source

Transcranial magnetic stimulation in depression--lessons from the multicentre trials [PDF]

, 2010
Looking at novelties and advances in medicine in particular in the treatment of major depressive disorder no principally new antidepressant treatment strategy has been established in clinical routine in the last fifty years.
Cardenas-Morales, L, Freudenmann, R W, Herwig, U, Kammer, T, Schoenfeldt-Lecuona, C   +4 more
core   +1 more source

Distinct Biotypes of Visual Perception in Major Depressive Disorder

Advanced Science, EarlyView.
In a discover dataset (272 acute MDD patients), this work identifies a novel depression biotype characterized by impaired visual motion perception, using machine learning clustering. An independent dataset confirms the robustness of this biotype through cross‐validation and demonstrates its generalizability.
Zhuoran Cai, Xi‐Wen Hu, Yuyang Li, Zheng Lin, Yongjie Li, Yong‐Chun Cai, Tao Xu, Ke Jia, Jin‐Fang Han, Zhong‐Lin Tan, Dezhong Yao, Xue Mei Song, Sugai Liang, Georg Northoff   +13 more
wiley   +1 more source