Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a ...form of N-glycosylation, involves many enzymes. Until today, type 1 and type 2 fucosylation defects were identified, having pathogenic variants in genes encoding α-1,6-fucosyltransferase and fucokinase enzymes, respectively. In this article, a patient with type 2 fucosylation defect will be presented, with hypotonia, developmental delay and blindness and a pathogenic variant that was previously described in two patients.
Whole exome sequencing (WES) was performed, since the patient had no time to implement diagnostic algorithm for hypotonia etiology.
WES revealed a new pathogenic variant of homozygous c.993_1011del (p.Glu335Hisfs*55) frameshift variant of the FUK gene NM_145059 transcript. She had milder clinical manifestation than reported two patients.
Congenital Defect of Glycosylation should be considered when the clinical findings cannot be explained by other known diseases, particularly in patients with multisystemic, predominantly neurological involvement.
This preliminary study compared clinical and radiographic outcomes of regenerative endodontic procedures (REPs) with that of conventional root canal treatment (CRCT) in necrotic mature teeth with ...periapical radiolucencies.
Fifty-six mature necrotic teeth with large periapical radiolucencies were distributed into 2 groups: group 1, REPs and group 2, CRCT (n = 28/group). Clinical and radiographic follow-up assessments were undertaken up to 12 months. Statistical analysis was performed using the independent samples t test and the chi-square test, and the level of significance was set at P = .05.
With a follow-up rate of about 73.4% of the total patients for 12 months, favorable clinical and radiographic outcomes were found in 92.3% and 80% in REPs and CRCT groups, respectively, and the difference was not statistically significant (P > .05). Half of the teeth treated with REPs responded to the electric pulp test.
Regenerative endodontic procedures have the potential to be used as a treatment option for mature teeth with large periapical radiolucencies.
Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb ...malformations (CLMs). Interfamilial and intrafamilial heterogeneity highlight the complexity of the underlying genetic pathogenesis of these developmental anomalies. Family-based genomics by exome sequencing (ES) and rare variant analyses combined with whole-genome array-based comparative genomic hybridization were implemented to investigate 18 families with limb birth defects. Eleven of 18 (61%) families revealed explanatory variants, including 7 single-nucleotide variant alleles and 3 copy number variants (CNVs), at previously reported “disease trait associated loci”: BHLHA9, GLI3, HOXD cluster, HOXD13, NPR2, and WNT10B. Breakpoint junction analyses for all three CNV alleles revealed mutational signatures consistent with microhomology-mediated break-induced replication, a mechanism facilitated by Alu/Alu-mediated rearrangement. Homozygous duplication of BHLHA9 was observed in one Turkish kindred and represents a novel contributory genetic mechanism to Gollop-Wolfgang Complex (MIM: 228250), where triplication of the locus has been reported in one family from Japan (i.e., 4n = 2n + 2n versus 4n = 3n + 1n allelic configurations). Genes acting on limb patterning are sensitive to a gene dosage effect and are often associated with an allelic series. We extend an allele-specific gene dosage model to potentially assist, in an adjuvant way, interpretations of interconnections among an allelic series, clinical severity, and reduced penetrance of the BHLHA9-related CLM spectrum.
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Duan et al. implemented family-based genomics and rare variant analyses in 18 families with CLMs. The results show that allelic series and gene dosage effects contribute to the clinical variability . The allele-specific gene dosage model (AsGD) explains observations of the BHLHA9-related clinical spectrum including the Gollop-Wolfgang complex (MIM: 228250).
Adenosine triphosphate-binding cassette subfamily A member 3 (ABCA3) gene variants, which cause severe respiratory distress syndrome (RDS) in term newborns, can cause death, especially due to the ...lack of congenital surfactant protein. The relationship between the types, pathophysiology and effects of ABCA3 gene variants on surfactant metabolism and the clinical phenotype have not yet been fully clarified, but the ABCA3 genotype is known to affect clinical severity.
In our study, in a term newborn with a diagnosis of RDS resulting in death, we detected the c.3677 T > C (p.Leu1226Pro) variant homozygous variant in the ABCA3 gene according to the NM_001089.3 transcript, which, to our knowledge, was identified for the first time in the literature.
We consider that this case report contributes to the literature on RDS by showing the presence of c.3677 T > C (p.Leu1226Pro), a new homozygous variant of ABCA3 in our patient.
Recently, regenerative endodontic procedures (REPs) have been used to treat mature permanent teeth with apical periodontitis. Although animal studies with regard to histopathological findings after ...REPs exist, there is a paucity of studies on mature human teeth. As yet, the nature of tissues formed in the root canal of such teeth has not been established. This report presents histologic findings with regard to regenerative tissues in the pulp spaces exposed after dental trauma in human mature maxillary incisor teeth successfully treated with REPs.
A 20-year-old girl was referred to our clinic for the treatment of her central incisors (#8 and #9). The incisors had apical periodontitis. REPs were performed on both maxillary central incisors. Three years 5 months after the initial treatment, the teeth had a horizontal crown fracture and needed a fiber post as well as root canal treatment. Mineral trioxide aggregate was carefully removed, and the tissue that had formed in the canal space was processed for routine histologic and immunohistochemical examination.
Histologic findings of the present case showed that the vital tissue formed in the canal space was fibrous connective tissue that contains bonelike tissue, vascular structures, and inflammation. These histologic findings obtained from mature teeth were similar to the findings of previous reports relating to immature teeth.
Based on the present case, the vital tissue formed in the canal space is fibrous connective tissue that contains bonelike tissue, vascular structures, and inflammation. These histologic findings with regard to mature teeth were similar to the findings of previous reports relating to immature teeth.
Li‐Campeau syndrome (LICAS) is an autosomal recessive disorder characterized by developmental delay, intellectual disability, genital anomalies, congenital heart defects, and dysmorphic features. ...LICAS is caused by biallelic pathogenic variants in the UBR7 gene, acting as an E3 ubiquitin‐protein ligase. Using exome sequencing (ES), we identified a homozygous novel pathogenic splice site variation c.1185+1G>C in UBR7 in a 32‐month‐old male from a nonconsanguineous Turkish family with clinical features of LICAS. Sanger sequencing revealed the heterozygous state of parents for this variant and confirmed the co‐segregation study. The variant may lead to the loss of function of UBR7 and is in a highly conserved residue. Bioinformatic prediction analysis using in silico algorithms supports the pathogenic effect of the splice site variant in the UBR7.
This paper introduces a modified reduced-order model with aim to use in the dynamic analysis of flexible robot-manipulators. The model structure is firstly discussed theoretically, then numerically, ...and finally experimentally in terms of efficiency, utility and robustness. Due to the deterministic structure of the model, which is formed by taking into account the specific features of the system, a successful model can be created without the need for wide range of training data such in probabilistic methods. Because of the simplicity of the model, it is able to realize a dramatic decrease in the analysis period compared to FEA programs. The model is also quite successful in reflecting the robot’s nonlinear trigonometric position responses. Besides, an open loop model-associative vibration control method was used to show the utility and satisfactory results were achieved in the actual system. Furthermore, the ability of the model to perform multiple scenarios in a short time allowed the case-study of the control input parameters.
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