Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.

Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at least 10 degrees. It is the most common spinal deformity in children with a prevalence of 2%-3%, and its aetiology is unknown. Genetic factors are known to play a role and a number of linkage analyses showed associations of various loci. Here we describe a new case of a de novo interstitial deletion 8q11.21q11.2 disrupting SNTG1 gene, identified by array-CGH in a girl with cognitive impairment and a scoliosis that 'appears' like to IS. SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin associated protein complex and interacts directly with the C-terminal of dystrophin. Its expression is restricted to neurons and particularly in those areas of the brain that have been suggested to affect postural control. The involvement of SNTG1 gene in IS was already been reported in a family with a breakpoint between exons 10 and 11. Mutational analysis of SNTG1 exons in 152 sporadic IS patients had revealed changes in three patients. In conclusion, our data add a further line of evidence suggesting SNTG1 could represent an interesting candidate for its involvement in scoliosis.

Calcium hydroxide paste removal strategies and bond strengths of epoxy- and silicate-based sealers.

This study evaluated the syringe/needle (SN), passive ultrasonic irrigation (PUI) and XP-endo Finisher (XP) in the removal of Ca(OH)2 -based paste and the bond strength (BS) values of an epoxy resin (AH Plus) and silicate (MTA)-based sealers to root dentin. Eighty lower premolars were assigned: control group (CT), SN, PUI and XP, and subdivided according to the sealer (n = 10) for BS. SN has the lowest removal followed by PUI and XP. AH Plus had higher BS for CT compared with SN in all root thirds. CT and XP presented similar BS in the apical and middle thirds and higher than SN and PUI. For MTA, similar BS was observed in the cervical and apical thirds, and in the middle third, CT, PUI and XP presented similar values and higher than SN. PUI and XP methods presented higher efficiency in the Ca(OH)2 removal, and the residual Ca(OH)2 provides a reduction in BS of the AH Plus.

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Neurodevelopmental disorders (NDDs) show a wide range of overlapping clinical features. Intellectual disability (ID), developmental delay (DD), autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), language and communication disorders with or without motor abnormalities and/or epilepsy have been reported associated to single or multiple genes but in many cases the genetic basis remains unknown. The increasingly use of array-CGH has significantly improved the yield of diagnosing genomic disorders and led to the identification of several novel microdeletion and microduplication syndromes. TANC2 encodes a synaptic scaffold protein interacting with multiple neuropsychiatric disorder-related postsynaptic density (PSD) proteins in dendrites. Here, we describe a new case of TANC2 gene disruption in a 17q23.3 de novo microdeletion identified by array-CGH. The patient presented craniofacial dysmorphic features, hypotonia, and severe cognitive and motor impairment. In conclusion, our data add a further line of evidence supporting the role of TANC2 in NDDs and will help further researches to elucidate the regulatory mechanism of synaptic function and plasticity related to TANC2 haploinsufficiency.

Papel y uso de los probióticos en el niño pretérmino y en el lactante / Role and use of probiotics in the pre-term and infant child

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