307. The Relationship Between Neuropsychiatric Symptoms and Language Ability in Phelan-McDermid Syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. PMS is associated with autism, intellectual disability, neuropsychiatric symptoms, regression, and medical comorbidities. Here, we present a cohort of PMS individuals ascertained for psychiatric illness, comparing the prevalence of neuropsychiatric features across baseline verbal ability. (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Kate Friedman, Tess Levy, Siddharth Srivastava, Teresa M. Kohlenberg, Alexander Kolevzon Source Type: research
165. Examining the Relationship Between Cardiovascular Risk Factors and Suicide Phenotypes Among Youth With Mood Disorders
This study examined the association between cardiovascular risk with self-harm in a controlled sample of youth with mood disorders (bipolar disorder or major depressive disorder). (Source: Biological Psychiatry)
Source: Biological Psychiatry - April 29, 2024 Category: Psychiatry Authors: Mikaela Dimick, Kody G. Kennedy, Simin Jin, Benjamin Goldstein Source Type: research
Acceptance of Telepresence Robotics, Telecare and Teletherapy Among Stroke Patients, Relatives and Therapy Staff
CONCLUSION: Accepted new telecare and teletherapies can be offered with the help of telepresence robotics. This requires knowledge of and experience with the technology.PMID:38682498 | DOI:10.3233/SHTI240005 (Source: Studies in Health Technology and Informatics)
Source: Studies in Health Technology and Informatics - April 29, 2024 Category: Information Technology Authors: Edda Currle Sonja Haug Source Type: research
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
This report will contribute to an enhanced understanding of the 49,XXXYY phenotype, aiding in the diagnosis, treatment, and genetic counseling of future cases.PMID:38684424 | DOI:10.1507/endocrj.EJ24-0015 (Source: Endocrine Journal)
Source: Endocrine Journal - April 29, 2024 Category: Endocrinology Authors: Junko Kanno Akinobu Miura Sayaka Kawashima Hirohito Shima Dai Suzuki Miki Kamimura Ikuma Fujiwara Masayuki Kamimura Mitsugu Uematsu Masataka Kudo Atsuo Kikuchi Source Type: research
Thalamic Alterations in Motor Neuron Diseases: A Systematic Review of MRI Findings
CONCLUSIONS: Thalamic alterations provide valuable insights into the pathophysiology and progression of MNDs. Multimodal MRI techniques are potent tools for detecting dynamic thalamic changes, indicating structural integrity, connectivity disruption, and metabolic activity.PMID:38682227 | DOI:10.31083/j.jin2304077 (Source: Journal of Integrative Neuroscience)
Source: Journal of Integrative Neuroscience - April 29, 2024 Category: Neuroscience Authors: Sana Mohammadi Sadegh Ghaderi Mahdi Mohammadi Zahra Najafi Asli Pashaki Rahim Khatyal Fatemeh Mohammadian Sahar Mohammadjani Source Type: research
Acceptance of Telepresence Robotics, Telecare and Teletherapy Among Stroke Patients, Relatives and Therapy Staff
CONCLUSION: Accepted new telecare and teletherapies can be offered with the help of telepresence robotics. This requires knowledge of and experience with the technology.PMID:38682498 | DOI:10.3233/SHTI240005 (Source: Studies in Health Technology and Informatics)
Source: Studies in Health Technology and Informatics - April 29, 2024 Category: Information Technology Authors: Edda Currle Sonja Haug Source Type: research
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
This report will contribute to an enhanced understanding of the 49,XXXYY phenotype, aiding in the diagnosis, treatment, and genetic counseling of future cases.PMID:38684424 | DOI:10.1507/endocrj.EJ24-0015 (Source: Endocrine Journal)
Source: Endocrine Journal - April 29, 2024 Category: Endocrinology Authors: Junko Kanno Akinobu Miura Sayaka Kawashima Hirohito Shima Dai Suzuki Miki Kamimura Ikuma Fujiwara Masayuki Kamimura Mitsugu Uematsu Masataka Kudo Atsuo Kikuchi Source Type: research
Thalamic Alterations in Motor Neuron Diseases: A Systematic Review of MRI Findings
CONCLUSIONS: Thalamic alterations provide valuable insights into the pathophysiology and progression of MNDs. Multimodal MRI techniques are potent tools for detecting dynamic thalamic changes, indicating structural integrity, connectivity disruption, and metabolic activity.PMID:38682227 | DOI:10.31083/j.jin2304077 (Source: Journal of Integrative Neuroscience)
Source: Journal of Integrative Neuroscience - April 29, 2024 Category: Neuroscience Authors: Sana Mohammadi Sadegh Ghaderi Mahdi Mohammadi Zahra Najafi Asli Pashaki Rahim Khatyal Fatemeh Mohammadian Sahar Mohammadjani Source Type: research
Acceptance of Telepresence Robotics, Telecare and Teletherapy Among Stroke Patients, Relatives and Therapy Staff
CONCLUSION: Accepted new telecare and teletherapies can be offered with the help of telepresence robotics. This requires knowledge of and experience with the technology.PMID:38682498 | DOI:10.3233/SHTI240005 (Source: Studies in Health Technology and Informatics)
Source: Studies in Health Technology and Informatics - April 29, 2024 Category: Information Technology Authors: Edda Currle Sonja Haug Source Type: research
Thalamic Alterations in Motor Neuron Diseases: A Systematic Review of MRI Findings
CONCLUSIONS: Thalamic alterations provide valuable insights into the pathophysiology and progression of MNDs. Multimodal MRI techniques are potent tools for detecting dynamic thalamic changes, indicating structural integrity, connectivity disruption, and metabolic activity.PMID:38682227 | DOI:10.31083/j.jin2304077 (Source: Journal of Integrative Neuroscience)
Source: Journal of Integrative Neuroscience - April 29, 2024 Category: Neuroscience Authors: Sana Mohammadi Sadegh Ghaderi Mahdi Mohammadi Zahra Najafi Asli Pashaki Rahim Khatyal Fatemeh Mohammadian Sahar Mohammadjani Source Type: research
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
This report will contribute to an enhanced understanding of the 49,XXXYY phenotype, aiding in the diagnosis, treatment, and genetic counseling of future cases.PMID:38684424 | DOI:10.1507/endocrj.EJ24-0015 (Source: Endocrine Journal)
Source: Endocrine Journal - April 29, 2024 Category: Endocrinology Authors: Junko Kanno Akinobu Miura Sayaka Kawashima Hirohito Shima Dai Suzuki Miki Kamimura Ikuma Fujiwara Masayuki Kamimura Mitsugu Uematsu Masataka Kudo Atsuo Kikuchi Source Type: research
Oxidative Stress-Mediated RUNX3 Mislocalization Occurs Via Jun Activation Domain-Binding Protein 1 and Histone Modification
In this study, we investigated whether oxidative stress is associated with RUNX3 accumulation from the nucleus to the cytoplasm in terms of histone modification. Oxidative stress elevated histone deacetylase (HDAC) level and lowered that of histone acetyltransferase. In addition, oxidative stress decreased the expression of mixed lineage leukemia (MLL), a histone methyltransferase, but increased the expression of euchromatic histone-lysine N-methyltransferase 2 (EHMT2/G9a), which is also a histone methyltransferase. Moreover, oxidative stress-induced RUNX3 phosphorylation, Src activation, and Jun activation domain-binding ...
Source: Applied Biochemistry and Biotechnology - April 29, 2024 Category: Biochemistry Authors: Kyoung Ah Kang Mei Jing Piao Pincha Devage Sameera Madushan Fernando Herath Mudiyanselage Udari Lakmini Herath Hye-Jin Boo Sang Pil Yoon Jin Won Hyun Source Type: research
Developing a pathway to clinical trials for < em > CACNA1A < /em > -related epilepsies: A patient organization perspective
Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245725. doi: 10.1177/26330040241245725. eCollection 2024 Jan-Dec.ABSTRACTCACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentati...
Source: Adv Data - April 29, 2024 Category: Epidemiology Authors: Pangkong M Fox Sunitha Malepati Lisa Manaster Elsa Rossignol Jeffrey L Noebels Source Type: research
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability
CONCLUSION: This scoping review of current practice reveals a myriad of outcomes and outcome measurement instruments for clinical trials in GNDs and ID. This complicates generalization, evidence synthesis, and evaluation. It underlines the need for consensus on suitability, validity, and relevancy of instruments, ultimately resulting in a core outcome set. A series of steps is proposed to move from the myriad of measures to a more unified approach.PMID:38681798 | PMC:PMC11047260 | DOI:10.1177/26330040241245721 (Source: Adv Data)
Source: Adv Data - April 29, 2024 Category: Epidemiology Authors: Annelieke R M üller Nadia Y van Silfhout Bibiche den Hollander Dick H C Kampman Lianne Bakkum Marion M M G Brands Lotte Haverman Caroline B Terwee Carlo Schuengel Joost Daams David Hessl Frits A Wijburg Erik Boot Agnies M van Eeghen Source Type: research
Stakeholder perspectives following implementation of Vietnam's first speech-language pathology degrees: recommendations for future curriculum development
CONCLUSIONS: Recommendations highlight the need for preparation, collaboration, support to manage challenges, flexibility, recognition for placement supervisors and high-quality interpreting. The recommendations are of relevance to other organisations engaged in development of professional degrees in Majority World countries. Future research would benefit from a critical investigation of the diverse perspectives of stakeholders involved in the development and implementation of international curricula.PMID:38682811 | DOI:10.1080/09638288.2024.2346237 (Source: Disability and Rehabilitation)
Source: Disability and Rehabilitation - April 29, 2024 Category: Rehabilitation Authors: Lindy McAllister Sally Hewat Adriana Penman Marie Atherton Van Tran Sarah Verdon Thuy Thi Thanh Nguyen Dung Pham Gwendalyn Webb Joanne Walters Source Type: research
