Vanderbilt-led team discovers new genetic disease and defines underlying mechanism


(Vanderbilt University Medical Center) An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms: cleft palate, cataracts, tooth abnormality, intellectual disability, facial dysmorphism and ADHD. The investigators report in Nature Medicine that the new disease is caused by a defect in collagen secretion.

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Publication date: 15 October 2020Source: Chemical Engineering Journal, Volume 398Author(s): Lu Li, Shenghui Li, Sheng Wang, Xiaoli Xing, Yating Zhang, Lin Su, Xiaoli Wu, Hanjie Wang, Jin Chang, Xiaoqun Gong

Determination of atomoxetine or escitalopram in human plasma by HPLC: Applications in neuroscience research studies
Int J Clin Pharmacol Ther. 2020 May 25;:
Authors: Teichert J, Rowe JB, Ersche KD, Skandali N, Sacher J, Aigner A, Regenthal R
BACKGROUND: Atomoxetine and escitalopram are potent and selective drugs approved for noradrenergic or serotonergic modulation of neuronal networks in attention-deficit hyperactivity disorder (ADHD) or depression, respectively. High-performance liquid chromatography (HPLC) methods still play an important role in the therapeutic drug monitoring (TDM) of …

Authors: Chan YT, Zhang HW, Sun WZ, Hang Or KK, Guo YQ, Chen M, Wu GY, Xu GY, Leung C, Tam S, Chun-Keung Mok F, Kwan YK, Chow E, Wo Mak JK, Chun-Kwok Chu A, Lee K, Law T, Ming Wong RW, Lin ZX
Objective: To evaluate the effectiveness and safety of acupuncture treatment for dysphagia as a complication of stroke. Methods and Design. This is a multicenter, pragmatic, nonrandomized, self-controlled clinical trial. A total of 39 patients were recruited from several Chinese medicine outpatient clinics and hospital-affiliated speech therapy outpatient clinics in Hong Kong. 26 patients completed all the 24 sessions…

Condition:   ADHD Intervention:   Behavioral: Behavioral tools integrated within mehealth for ADHD software Sponsors:   Children’s Hospital Medical Center, Cincinnati;   Developmental Behavioral Pediatrics Research Network;   HRSA/Maternal and Child Health Bureau;   Boston Children’s Hospital Recruiting

COVID has focused attention on the frontlines. However, this focus ignores those with chronic health needs and disabilities. People with these conditions are left unable to continue their care or to seek care for new exacerbations. People are avoiding the ER and dying at home. Needed surgeries are postponed leaving patients with continuing pain and […]Find jobs at  Careers by  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.

Source: Kevin, M.D. – Medical WeblogCategory: General Medicine Authors: Tags: Conditions COVID-19 coronavirus Infectious Disease Source Type: blogs

The adoption of interventions for infants and young children with disabilities/delays or at risk of disability/delay is likely to be influenced by sources other than research evidence. Where the available research evidence does influence the choice of intervention, there may be difficulties translating research that has been implemented in a controlled environment to an intervention that can be successfully applied in natural settings. Such settings include the family home as well as early childhood education and care centers. Incentives for the use of evidence-based interventions in early intervention settings include imp…

The National Disability Insurance Scheme (NDIS) was introduced in Australia in 2013 to address the inadequacies of a fragmented and underfunded service system for people with disabilities. For young children with developmental disabilities, NDIS services fall under the early childhood early intervention (ECEI) approach, the impact of which is yet to be documented. Considering the critical role of families in supporting their children with a disability, the aim of the present study was therefore to examine their experiences of the ECEI approach in the State of Victoria. Seventeen parents participated in interviews and focus…

(University of Barcelona) The frequency of genetic variants associated with attention-deficit/hyperactivity disorder (ADHD) has decreased progressively in the evolutionary human lineage from the Palaeolithic to nowadays, according to a study published in the journal Scientific Reports.

Food may trigger Attention-Deficit/Hyperactivity Disorder (ADHD) symptoms. Therefore, an elimination diet (ED) might be an effective treatment for children with ADHD. However, earlier studies were criticized f…

Source: BMC PsychiatryCategory: Psychiatry Authors: Tags: Study protocol Source Type: research

Destruction of oligodendrocytes and myelin sheaths in cortical gray matter profoundly alters neural activity and is associated with cognitive disability in multiple sclerosis (MS). Myelin can be restored by regenerating oligodendrocytes from resident progenitors; however, it is not known whether regeneration restores the complex myelination patterns in cortical circuits. Here we performed time lapsein vivo two photon imaging in somatosensory cortex of adult mice to define the kinetics and specificity of myelin regeneration after acute oligodendrocyte ablation. These longitudinal studies revealed that the pattern of myelina…

Source: eLifeCategory: Biomedical Science Tags: Neuroscience Source Type: research

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