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Timing of orthodontic tooth movement in bone defects repaired with synthetic scaffolds: A scoping review of animal studies

Tsai MH, Megat Abdul Wahab R, Yazid F

Arch Oral Biol, 2021 Dec;132:105278.
PMID: 34634537 DOI: 10.1016/j.archoralbio.2021.105278

OBJECTIVE: The optimal timing of orthodontic tooth movement (OTM) could allow earlier tooth movements across alveolar bone defects while minimizing the adverse effects. The objective of this scoping systematic review was therefore designed to review pre-clinical animal studies on the ideal protocol for the timing of orthodontic traction across alveolar defects augmented with synthetic scaffolds.
DESIGN: Following the PRISMA-ScR guidelines, three electronic databases were searched (Pubmed, Scopus and Web of Science).
RESULTS: A total of twelve studies were included in the final review that reported on small-animal (rats, guinea pigs, rabbits) and large-animal (dogs and goats) models. Based on the grafting biomaterials, eight papers used cell-free scaffolds, four articles utilised cell-based scaffolds. The timing protocol for the initiation of OTM employed in the studies ranged from immediate to 6 months after surgical grafting. Only four studies included autologous bone graft (gold standard) as positive control. Most papers reported positive results with regards to the rate of OTM and bone augmentation effects while only a few reported side effects such as root resorptions. Overall, the included articles showed a massive heterogeneity in terms of the animal bone defect model characteristics, scaffold materials, study designs, parameters of OTM and methods of analysis.
CONCLUSION: Since there was inadequate evidence to identify the optimal protocol of OTM, optimization of animal bone defect models and outcome measurements is needed to improve the translational ability of future studies.
Fulltext Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel

Tsai MH, Chan CK, Chang YC, Lin CH, Liou CW, Chang WN, et al.

Front Neurol, 2018;9:515.
PMID: 30034362 DOI: 10.3389/fneur.2018.00515

Objective: Focal epilepsy is the most common subtype of epilepsies in which the influence of underlying genetic factors is emerging but remains largely uncharacterized. The purpose of this study is to determine the contribution of currently known disease-causing genes in a large cohort (n = 593) of common focal non-lesional epilepsy patients. Methods: The customized focal epilepsy gene panel (21 genes) was based on multiplex polymerase chain reaction (PCR) and sequenced by Illumina MiSeq platform. Results: Eleven variants (1.85%) were considered as pathogenic or likely pathogenic, including seven novel mutations. There were three SCN1A (p.Leu890Pro, p.Arg1636Ter, and p.Met1714Val), three PRRT2 (two p.Arg217Profs*8 and p.Leu298Pro), two CHRNA4 (p.Ser284Leu, p.Ile321Asn), one DEPDC5 (p.Val516Ter), one PCDH19 (p.Asp233Asn), and one SLC2A1 (p.Ser414Ter) variants. Additionally, 16 other rare variants were classified as unknown significance due to inconsistent phenotype or lack of segregation data. Conclusion: Currently known focal epilepsy genes only explained a very small subset of focal epilepsy patients. This indicates that the underlying genetic architecture of focal epilepsies is very heterogeneous and more novel genes are likely to be discovered. Our study highlights the usefulness, challenges and limitations of using the multi-gene panel as a diagnostic test in routine clinical practice in patients with focal epilepsy.
Betel-quid dependence domains and syndrome associated with betel-quid ingredients among chewers: an Asian multi-country evidence

Lee CH, Chiang SL, Ko AM, Hua CH, Tsai MH, Warnakulasuriya S, et al.

Addiction, 2014 Jul;109(7):1194-204.
PMID: 24650227 DOI: 10.1111/add.12530

Betel-quid (BQ) contains biologically psychoactive ingredients; however, data are limited concerning the symptoms and syndrome of BQ dependence among chewers. The aims of this study were to evaluate the ingredients-associated BQ dependence syndrome and country-specific chewing features and behaviour for BQ dependence among chewers from six Asian communities.
DEPDC5 mutations in familial and sporadic focal epilepsy

Tsai MH, Chan CK, Chang YC, Yu YT, Chuang ST, Fan WL, et al.

Clin Genet, 2017 Oct;92(4):397-404.
PMID: 28170089 DOI: 10.1111/cge.12992

BACKGROUND AND AIMS: Mutations in the disheveled, Egl-10 and pleckstrin domain-containing protein 5 (DEPDC5) gene have emerged as an important cause of various familial focal epilepsy syndromes. However, the significance of DEPDC5 mutations in patients with sporadic focal epilepsy has yet to be characterized.
MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.
Fulltext Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, et al.

Neuron, 2020 Apr 22;106(2):237-245.e8.
PMID: 32097630 DOI: 10.1016/j.neuron.2020.01.027

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.