Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan‐McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. By whole exome sequencing, we identified two de novo novel variants including one frameshift pathogenic variant and one missense variant of unknown significance in a 14‐year‐old boy with delayed motor milestones, delayed language acquisition, autism, intellectual disability, ataxia, progressively worsening spasticity of the lower extremities, dysmorphic features, short stature, microcephaly, failure to thrive, chronic constipation, intrauterine growth restriction, and bilateral inguinal hernias. Both changes are within the CpG island in exon 21, separated by a 375 bp sequence. Next generation sequencing of PCR products revealed that the two variants are most frequently associated with each other. Sanger sequencing of the cloned PCR products further confirmed that both changes were on a single allele. The clinical presentation in this individual is consistent with other patients with a truncating mutation in exon 21, suggesting that the missense change contributes none or minimally to the phenotypes. This is the ...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Authors: Schep LJ, Slaughter RJ, Glue P, Gee P Abstract Cannabis is one of the most widely used recreational drugs in the world. Tetrahydrocannabinol (THC) is the psychoactive principal constituent of the cannabis plant (Cannabis sativa). It is taken either orally or by inhalation, resulting in sedation, euphoria, relaxation and loss of social inhibition. Adverse effects from higher doses can include fear, distrust and a profound state of unease, hallucinations, ataxia, stupor and seizures. Long-term use can result in respiratory and cardiovascular toxicity and has been associated with a range of psychiatric condit...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
CONCLUSIONS: Subcortical gray-matter structures are involved in the neurodegenerative process of ALS before cognitive impairment becomes evident. PMID: 33029965 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Liu J, Chen H, Wu D, Wei R, Lv C, Dong J, Wu D, Yu Y Abstract Background: Stimulant laxatives are still considered the most common treatment for functional outlet obstruction constipation (FOOC). However, the effectiveness of laxatives is unsatisfactory, and the long-term use of laxatives may cause certain adverse events. With this in mind, it is, however, paramount that novel complementary treatment(s) and/or other forms of alternative medicine are adequately investigated. Aims: The study aims to explore the effects and potential mechanism(s) of transcutaneous electrical acustimulation (TEA) combined ...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Conclusion: It appears that the knee OA pain and disability can be decreased after a dual-frequency LLLT applied to acupoints (SP9, SP10, and EX-LE2). The clinical efficacy of LLLT is highly related to the therapeutic settings of the laser apparatus; hence, more clinical trials with diffident parameter settings are needed to be further clarified. PMID: 33029170 [PubMed]
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Authors: Sun Y, Yan C, Jin S, Shi C, Zhao J, Li G Abstract Recent studies have identified the curative effects of traditional Chinese medicine for constipation. The mechanism of action of Guiren Runchang granules (GRGs) in the treatment of slow transit constipation (STC) was evaluated in this study. Here, we assessed the efficacy of GRG by comparing the differences in fecal characteristics, stool weight, and intestinal transit rate (ITR) among 6 groups (n = 12/group), which were administered three concentrations of GRG, mosapride, and saline. The influence of GRG on the SCF/c-kit pathway, AQP4, and se...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Frailty and falls are the main causes of morbidity and disability in elderly people. The Timed Up-and-Go (TUG) test has been proposed as an appropriate method for evaluating elderly individuals' risk of falling. To analyze the TUG's potential for falls pre...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
BACKGROUND: Falls in later life that require admission to hospital have well-established consequences for future disability and health. The likelihood and severity of a fall will result from the presence of one or more risk factors. The aim of this study i...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
Publication date: November 2020Source: The Arts in Psychotherapy, Volume 71Author(s): Angelle Cook
Source: Arts in Psychotherapy - Category: Psychiatry & Psychology Source Type: research
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Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Trauma Upper Extremity Source Type: research
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Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Knee Source Type: research
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