Muscle fiber diameter assessment in cleft lip using image processing

Khan, Mohammad Faisal Jamal; Little, Julian; Abelli, Luigi; Mossey, Peter; Autelitano, Luca; Nag, Tapas Chandra; Rubini, Michele

doi:10.1111/odi.12790

Cited by 6 publications

(3 citation statements)

References 29 publications

(31 reference statements)

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“…Among environmental factors, tobacco smoking has been found to influence facial morphology (Xuan et al, 2016), and is reported to be the most consistent and strongest risk factor for OFCs (Raut et al, 2019). Such perturbation of the early life environment affects developmental programming in the embryo, with sustained changes potentially detectable in tissues from medial nasal and maxillary sides of the upper lip in cases with nonsyndromic cleft lip with or without cleft palate (nsCL/P) as observed by our group in recent studies (Khan, Little, Abelli, et al, 2018;Khan, Little, Mossey, Steegers-Theunissen, Autelitano, et al, 2018;Khan, Little, Aleotti, et al, 2019;Khan, Little, Nag, et al, 2019).…”

Section: Introductionsupporting

confidence: 62%

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study

Khan

Little

Mossey

et al. 2021

Birth Defects Research

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Background: The medial and maxillary aspects of the upper lip originate at separate embryonic stages and therefore may experience different maternal exposure patterns which may affect methylation. Based on this hypothesis, we investigated the level of methylation of the methylene tetrahydrofolate reductase promoter gene (mMTHFR) in tissues from cleft lip, and mMTHFR levels by MTHFR c.677C > T genotype. We further investigated whether mMTHFR mitigates the effect of smoking on long interspersed nuclear element (LINE-1) methylation in these tissues.Methods: DNA extracted from medial and lateral tissues of 26 infants with nonsyndromic cleft lip with or without cleft palate (nsCL/P) was bisulfite converted and mMTHFR was measured on a pyrosequenser. LINE-1 methylation and MTHFR c.677C > T genotype data were obtained in our previous study.Results: There was no substantial difference in mMTHFR (p = .733) and LINE-1 (p = .148) between the two tissues. mMTHFR was not influenced by MTHFR c.677C > T genotype, but there was suggestive evidence that the difference was larger among infants exposed to maternal smoking compared to nonexposed. LINE-1 methylation differences were significant (p = .025) in infants born to nonsmoking mothers, but this was not apparent (p = .872) in infants born to mothers who smoked. Our Pearson's correlation analysis suggested a weak inverse association between mMTHFR and LINE-1 (r = À.179, p = .381). Conclusion:Our preliminary observation of differences in patterns of mMTHFR levels in lip tissue suggests the interplay of gene and environment in the establishment of methylation in tissues at both sides of cleft lip. This requires investigation in a larger cohort, integrated with metabolic assessment.

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Section: Introductionsupporting

confidence: 62%

MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study

Khan

Little

Mossey

et al. 2021

Birth Defects Research

Self Cite

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“…Some empirical evidence of reduced proliferation and migration of these mesenchymal cells particularly affected on the medial side is shown in a separate animal study (Everson et al, ). Moreover, these mesenchymal cells eventually form the continuous bands of the future orbicularis oris muscle (Lazzeri et al, ), which is shown to have altered diameter (Khan et al, ; Khan, Little, Abelli, Mossey, et al, ; Khan, Little, Mossey, Steegers‐Theunissen, Bonsi, et al, ) and arrangement (Wijayaweera, Amaratunga, & Angunawela, ) across the two sides in CL cases. Notably, collagen and muscles share structural–functional relationship to ensure proper alignment (Calvi et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…The average age of cases at the time of first lip surgery was eight months (95% CI 4.6–11.4). The samples were collected at the Regional Centre for Orofacial Clefts and Craniofacial Anomalies, San Paolo Hospital, Milan, Italy in the framework of the PENTACLEFT project (Khan et al, ; Khan, Little, Abelli, Mossey, et al, ; Khan, Little, Mossey, Steegers‐Theunissen, Bonsi, et al, ), which was approved by local IRB (prot. N.08‐2011).…”

Section: Methodsmentioning

confidence: 99%