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  • 1
    Online Resource
    Online Resource
    Elsevier BV ; 2022
    In:  American Journal of Orthodontics and Dentofacial Orthopedics Vol. 162, No. 5 ( 2022-11), p. 744-752.e3
    In: American Journal of Orthodontics and Dentofacial Orthopedics, Elsevier BV, Vol. 162, No. 5 ( 2022-11), p. 744-752.e3
    Type of Medium: Online Resource
    ISSN: 0889-5406
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2022
    detail.hit.zdb_id: 356699-7
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  • 2
    In: Circulation: Genomic and Precision Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 13, No. 4 ( 2020-08)
    Abstract: Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it is associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate the ion channel genetic landscape of LVNC and identify genotype-phenotype correlations in a large Japanese cohort. Methods: We enrolled 206 children with LVNC from 2002 to 2017 in Japan. LVNC was classified as follows: LVNC with congenital heart defects, arrhythmia, dilated phenotype, or normal function. In the enrolled patients, 182 genes associated with cardiomyopathy were screened using next-generation sequencing. Results: We identified 99 pathogenic variants in 40 genes in 87 patients. Of the pathogenic variants, 8.8% were in genes associated with channelopathies, 27% were in sarcomere genes, and 11.5% were in mitochondrial genes. Ion channel gene variants were mostly associated with the arrhythmia classification, whereas sarcomere and mitochondrial gene variants were associated with the dilated phenotype. Echocardiography revealed that the group with ion channel gene variants had almost normal LV ejection fraction and LV diastolic diameter Z scores. Fragmented QRS, old age, and an arrhythmia phenotype were the most significant risk factors for ventricular tachycardia ( P =0.165, 0.0428, and 0.0074, respectively). Moreover, the group with ion channel variants exhibited a greater risk of a higher prevalence of arrhythmias such as ventricular tachycardia, rather than congestive heart failure. Conclusions: This is the first study that focused on genotype-phenotype correlations in a large pediatric LVNC patient cohort with ion channel gene variants that were determined using next-generation sequencing. Ion channel gene variants were strongly correlated with arrhythmia phenotypes. Genetic testing and phenotype specification allow for appropriate medical management of specific LVNC targets.
    Type of Medium: Online Resource
    ISSN: 2574-8300
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
    detail.hit.zdb_id: 2927603-2
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  • 3
    In: Journal of Anatomy, Wiley, Vol. 241, No. 6 ( 2022-12), p. 1287-1302
    Abstract: Rapid shelf elevation and contact of the secondary palate and fusion reportedly occur due to a growth‐related equilibrium change in the structures within the oro‐nasal cavity. This study aimed to quantitatively evaluate complex three‐dimensional morphological changes and their effects on rapid movements, such as shelf elevation and contact, and fusion. Morphological changes during secondary palate formation were analyzed using high‐resolution digitalized imaging data (phase‐contrast X‐ray computed tomography and magnetic resonance images) obtained from 22 human embryonic and fetal samples. The three‐dimensional images of the oro‐nasal structures, including the maxilla, palate, pterygoid hamulus, tongue, Meckel's cartilage, nasal cavity, pharyngeal cavity, and nasal septum, were reconstructed manually. The palatal shelves were not elevated in all the samples at Carnegie stage (CS)21 and CS22 and in three samples at CS23. In contrast, the palatal shelves were elevated but not in contact in one sample at CS23. Further, the palatal shelves were elevated and fused in the remaining four samples at CS23 and all three samples from the early fetal period. For each sample, 70 landmarks were subjected to Procrustes and principal component (PC) analysis. PC‐1 accounted for 67.4% of the extracted gross changes before and after shelf elevations. Notably, the PC‐1 values of the negative and positive value groups differed significantly. The PC‐2 value changed during the phases in which the change in the PC‐1 value was unnaturally slow and stopped at CS22 and the first half of CS23. This period, defined as the “approach period”, corresponds to the time before dynamic changes occur as the palatal shelves elevate, the tongue and mandibular tip change their position and shape, and secondary palatal shelves contact and fuse. During the “approach period”, measurements of PC‐2 changes showed that structures on the mandible (Meckel's cartilage and tongue) and maxilla (palate and nasal cavity) did not change positions, albeit both groups of structures appeared to be compressed anterior–posteriorly. However, during and after shelf elevation, measurements of PC‐1 changes showed significant changes between maxillary and mandibular structures, particularly positioning of the shelves above the tongue and protrusion of the tongue and mandible. These results suggest an active role for Meckel's cartilage growth in repositioning the tongue to facilitate shelf elevation. The present data representing three distinct phases of secondary palate closure in humans can advance the understanding of morphological growth changes occurring before and after the horizontal positioning of palatal shelves and their fusion to close the secondary palate in humans successfully.
    Type of Medium: Online Resource
    ISSN: 0021-8782 , 1469-7580
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2955-5
    detail.hit.zdb_id: 1474856-3
    SSG: 12
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  • 4
    Online Resource
    Online Resource
    Wiley ; 2023
    In:  Orthodontics & Craniofacial Research Vol. 26, No. S1 ( 2023-12), p. 20-28
    In: Orthodontics & Craniofacial Research, Wiley, Vol. 26, No. S1 ( 2023-12), p. 20-28
    Abstract: Colony‐stimulating factor‐1 receptor (CSF1R) is vital for the recruitment of monocytes, and their proliferation and differentiation into functional osteoclasts. Mouse studies, where CSF1R and its cognate ligand are absent, have significant craniofacial phenotypes, but these have not been studied in detail. Materials and Methods Pregnant CD1 mice were fed diets laced with CSF1R inhibitor—PLX5622 starting at embryonic day 3.5 (E3.5) up to birth. Pups were collected at E18.5 to study CSF1R expression using immunofluorescence. Additional pups were studied at postnatal day 21 (P21) and P28 using microcomputed tomography (μCT) and Geometric Morphometrics, to evaluate craniofacial form. Results CSF1R‐positive cells were present throughout the developing craniofacial region, including the jaw bones, surrounding teeth, tongue, nasal cavities, brain, cranial vault and base regions. Animals exposed to the CSF1R inhibitor in utero had severe depletion of CSF1R‐positive cells at E18.5 and had significant differences in craniofacial form (size and shape) at postnatal timepoints. Centroid sizes for the mandibular and cranio‐maxillary regions were significantly smaller in CSF1R‐inhibited animals. Proportionally, these animals had a domed skull, with taller and wider cranial vaults and shortening of their midfacial regions. Mandibles were smaller vertically and anterio‐posteriorly, with proportionally wider inter‐condylar distances. Conclusions Embryonic inhibition of CSF1R impacts postnatal craniofacial morphogenesis, with significant influences on the mandibular and cranioskeletal size and shape. These data indicate that CSF1R plays a role in early cranio‐skeletal patterning, likely through osteoclast depletion.
    Type of Medium: Online Resource
    ISSN: 1601-6335 , 1601-6343
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2076514-9
    detail.hit.zdb_id: 2098407-8
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  • 5
    In: Orthodontics & Craniofacial Research, Wiley
    Abstract: The cranial base plays a significant role in facial growth, and closer analyses of the morphological relationship between these two regions are needed to understand the morphogenesis of the face. Here, we aimed to study morphological integration between the sella turcica (ST) and facial bones during the fetal period using geometric morphometrics. Materials and Methods Magnetic resonance images of 47 human fetuses in the Kyoto Collection, with crown‐rump lengths of 29.8–225 mm, were included in this study. Anatomical homologous landmarks and semilandmarks were registered on the facial bones and the midsagittal contour of the ST, respectively. The shape variations in the craniofacial skeleton and the ST were statistically investigated by reducing dimensionality using principal component analysis (PCA). Subsequently, the morphological integration between the facial bones and ST was investigated using two‐block partial least squares (2B‐PLS) analysis. Results PCA showed that small specimens represented the concave facial profile, including the mandibular protrusion and maxillary retrusion. The 2B‐PLS showed a strong integration (RV coefficient = 0.523, r  = .79, p   〈  .01) between the facial bones and ST. The curvature of the anterior wall of the ST was highly associated with immature facial morphology characterized by a concave profile. Conclusion The strong integration between the two regions suggested that the anterior ST may be associated with facial morphology. This result quantitatively confirms previous studies reporting ST deformities in facial anomalies and induces further research using postnatal subjects.
    Type of Medium: Online Resource
    ISSN: 1601-6335 , 1601-6343
    Language: English
    Publisher: Wiley
    Publication Date: 2024
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    detail.hit.zdb_id: 2098407-8
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  • 6
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2023
    In:  Scientific Reports Vol. 13, No. 1 ( 2023-04-24)
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2023-04-24)
    Type of Medium: Online Resource
    ISSN: 2045-2322
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2615211-3
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  • 7
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Plastic and Reconstructive Surgery - Global Open Vol. 9, No. 9 ( 2021-09), p. e3793-
    In: Plastic and Reconstructive Surgery - Global Open, Ovid Technologies (Wolters Kluwer Health), Vol. 9, No. 9 ( 2021-09), p. e3793-
    Abstract: Patients with severe group A Streptococcus (GAS) induced necrotizing soft tissue infection sometimes develop Streptococcal toxic shock syndrome, which is a life-threatening condition with an extremely high fatality rate. Obtaining survival is the most important goal; however, an early diagnosis for debridement surgery and quick granulation formation for skin grafting surgery can better preserve the extremity functions. The patient was a 47-year-old man with a history of atopic dermatitis who presented with GAS-induced necrotizing soft tissue infection in his left lower extremity. His vital signs indicated shock, and he was diagnosed with streptococcal toxic shock syndrome. Emergency surgery was performed with his body pressure maintained with noradrenaline. Intraoperatively, rapid antigen detection tests (RADTs) were negative in the medial thigh and positive in the lower leg, which helped in decision-making regarding the area of aggressive debridement surgery. The wound culture results matched the intraoperative rapid antigen detection test results. A collagen/gelatin sponge with the sustained release of basic fibroblast growth factor was used as an artificial dermis before skin grafting. Excellent granulation was obtained, and skin grafting surgery was performed on the 11th day after collagen/gelatin sponge placement. He was discharged home on the 42nd day with normal lower extremity functions. First, an intraoperative diagnosis using GAS-rapid antigen detection tests with an appropriate sampling method from small incisions avoided excessive surgical debridement. Second, collagen/gelatin sponge with the sustained release of basic fibroblast growth factor promoted quick granulation tissue formation for wound bed preparation. These efforts resulted in the successful less-invasive treatment of a patient with streptococcal toxic shock syndrome caused by GAS-induced necrotizing soft tissue infection.
    Type of Medium: Online Resource
    ISSN: 2169-7574
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
    detail.hit.zdb_id: 2723993-7
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  • 8
    In: Prenatal Diagnosis, Wiley, Vol. 37, No. 9 ( 2017-09), p. 907-915
    Abstract: What's already known about this topic? When and how the anterior nasal spine (ANS) grows is unclear. The disturbance of the development of the nasal septum during early prenatal period causes Binder phenotype. The critical period for this anomaly has been reported as 6 to 9 weeks of gestation by etiological research; however, embryological evidence regarding the same has not been presented. What does this study add? The nasal septum develops in the anteroposterior direction in the early prenatal period, which is important for nasal protrusion and the development of the ANS. The shapes of the nasal septum and the ANS are matured at around the end of the first trimester of pregnancy. The critical period for Binder phenotype could be extended to 14 weeks of gestation.
    Type of Medium: Online Resource
    ISSN: 0197-3851 , 1097-0223
    URL: Issue
    RVK:
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 82031-3
    detail.hit.zdb_id: 1491217-X
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  • 9
    In: Prenatal Diagnosis, Wiley, Vol. 37, No. 9 ( 2017-09)
    Type of Medium: Online Resource
    ISSN: 0197-3851 , 1097-0223
    URL: Issue
    RVK:
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 82031-3
    detail.hit.zdb_id: 1491217-X
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  • 10
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2014
    In:  European Journal of Plastic Surgery Vol. 37, No. 9 ( 2014-9), p. 461-468
    In: European Journal of Plastic Surgery, Springer Science and Business Media LLC, Vol. 37, No. 9 ( 2014-9), p. 461-468
    Type of Medium: Online Resource
    ISSN: 0930-343X , 1435-0130
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2014
    detail.hit.zdb_id: 1464220-7
    detail.hit.zdb_id: 632906-8
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