Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis

Baynam, Gareth; Walters, Mark; Dawkins, Hugh; Bellgard, M.; Halbert, Anne; Claes, Peter

doi:10.1017/thg.2013.49

Cited by 14 publications

(10 citation statements)

References 16 publications

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“…One prospective nonrandomized study and 17 retrospective studies described the treatment of lymphatic malformations with oral sirolimus. 14,19,26,32,41,48,56,61,[64][65][66][67][68][69][70][71][72][73] The median age was 12.8 years (0-34 years); 20% of patients were younger than 1 year, and 90% were younger than 18 years. Nonspecified decrease in lesion size was reported in 77.8% patients, partial response in 22.2%, complete response in 3.7%, improvement of pleural effusion in 9.9%, decrease of skin exudate and vesicles in 16.5%, and improvement of pain in 4.9%.…”

Section: Vascular Malformationsmentioning

confidence: 99%

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Freixo

Ferreira

Martins

et al. 2020

Journal of Vascular Surgery

140

115

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Objective: The management of vascular anomalies is complex and requires a multidisciplinary team with a combination of medical, surgical, and intervention treatments. Medical treatment is limited and has conflicting results. Off-label use of mammalian target of rapamycin inhibitors shows promising results. The objective of this study was to systematically evaluate the literature published about the efficacy and safety of sirolimus in the treatment of vascular anomalies. Methods: A systematic review of the published literature was conducted using the PubMed database and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Results: There were 73 articles included: 2 randomized controlled studies, 2 nonrandomized prospective studies, and 69 retrospective case reports and case series. In total, 373 patients were included. Sirolimus was administered topically to 56 patients and orally to 317 patients. Sirolimus was highly effective in the treatment of vascular tumors associated with Kasabach-Merritt phenomenon (95.5% of the patients clinically improved and 93% had normalization of coagulopathy), venous malformations (size reduction was observed in 88.9% of patients), and lymphatic malformations (clinical improvement in 94.9% of patients). Topical sirolimus results were conflicting. Arteriovenous malformations were not improved by sirolimus. Conclusions: Low-level evidence suggests that sirolimus can improve the prognosis of vascular anomalies, most notably vascular tumors associated with life-threatening coagulopathy and venous and lymphatic malformations. Further research is needed to establish the benefits of sirolimus in the management of vascular anomalies.

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Section: Vascular Malformationsmentioning

confidence: 99%

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Freixo

Ferreira

Martins

et al. 2020

Journal of Vascular Surgery

140

115

View full text Add to dashboard Cite

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“…3-Dimensional facial analysis is being used to monitor the effectiveness of drug therapy, which provides new avenues to assess drug response for both localized facial anomaly (10) and systemic disease (11). An example of 3DFA’s use to monitor drug response was an application in mucopolysaccharidosis type I (MPS I).…”

Section: Evaluate Effectiveness Accessibility and Quality Of Personmentioning

confidence: 99%

“…3DFA has also been used to monitor a child receiving a treatment (rapamycin) for a craniofacial anomaly. This child had extensive facial malformations and monitoring of their facial features using 3DFA showed a progressive improvement in their condition (10). In addition to observing treatment and disease progression in a standard clinical setting, 3DFA may also have a monitoring role in clinical trials.…”

Section: Evaluate Effectiveness Accessibility and Quality Of Personmentioning

confidence: 99%

“…In the RD domain, 3DFA has been investigated and is increasingly being implemented, primarily for diagnostic purposes (7–9). 3DFA is also being applied to monitor existing and novel therapies, an area in which it has a nascent role (10, 11). 3DFA involves the investigation of deeply precise 3D facial data that can be acquired with various facial imaging technologies and applied to deliver scientific insights.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

3-Dimensional Facial Analysis—Facing Precision Public Health

Baynam

Bauskis

Pachter

et al. 2017

Front. Public Health

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Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population groups, with a view to improving the overall health of populations. This promises to lead to more precise clinical and public health practices, across the continuum of prevention, screening, diagnosis, and treatment. A phenotype is the set of observable characteristics of an individual resulting from the interaction of a genotype with the environment. Precision (deep) phenotyping applies innovative technologies to exhaustively and more precisely examine the discrete components of a phenotype and goes beyond the information usually included in medical charts. This form of phenotyping is a critical component of more precise diagnostic capability and 3-dimensional facial analysis (3DFA) is a key technological enabler in this domain. In this paper, we examine the potential of 3DFA as a public health tool, by viewing it against the 10 essential public health services of the “public health wheel,” developed by the US Centers for Disease Control. This provides an illustrative framework to gage current and emergent applications of genomic technologies for implementing precision public health.

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“…This information clarified how the mutation resulted in varying clinical presentations of patients . In addition, facial morphometric analysis allows for the assessment of disease progression and is a non‐invasive method to assess the efficacy of therapeutic intervention by comparing facial dimensions before and after therapy . Future research will involve the exploration of normal facial variation within different age, gender and ethnic groups.…”

Section: Phenotyping and Craniofacial Developmentmentioning

confidence: 99%

Dental phenomics: advancing genotype to phenotype correlations in craniofacial research

Yong

Ranjitkar

Townsend

et al. 2014

Australian Dental Journal

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The field of dental phenomics provides many opportunities to elucidate the roles of genetic, epigenetic and environmental factors in craniofacial development. To date, research findings have helped to clarify the pathogenesis of many conditions, aiding diagnosis and clinical management. This paper provides an overview of dental phenomics research in some commonly encountered oral diseases in everyday clinical practice, as well as research relating to craniofacial growth and development. Clinically, advances in cariology and periodontology have led to better diagnostic capabilities and treatment provision. In the study of growth and development, important information regarding the varying clinical presentation and pathogenesis of many disorders is now apparent through the accurate quantification of phenotypes. Improvements in two-dimensional (2D) and three-dimensional (3D) imaging and analytical techniques have allowed for accurate dental phenotyping, and efforts are ongoing to apply these in vitro techniques to the in vivo setting. The field of dental phenomics represents an exciting avenue that links research findings to practical application, and collaboration between researcher and clinicians will help advance the field further.Keywords: Dentistry, genetics, epigenetics, phenomics, morphometrics.Abbreviations and acronyms: CL/P = cleft lip and/or palate; CPP-ACP = casein phosphopeptide-amorphous calcium phosphate. DP = digital photography; EDI = Enamel Defects Index; GIS = geographic information system; n-HAp = nano-hydroxyapatite; OPC = orientation patch count; OPCR = orientation patch count rotated; QLF = quantitative light-induced fluorescence; SMMCI = solitary maxillary median central incisor.

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Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis

Cited by 14 publications

References 16 publications

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

3-Dimensional Facial Analysis—Facing Precision Public Health

Dental phenomics: advancing genotype to phenotype correlations in craniofacial research

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