scholarly journals Altered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development

2021 ◽  
pp. 203674
Author(s):  
Michella Ghassibe-Sabbagh ◽  
Joelle El Hajj ◽  
Mounir Al Saneh ◽  
Nada El Baba ◽  
Jamil Abou Issa ◽  
...  
Keyword(s):  
Cell Migration ◽  
Rho Gtpases ◽  
Cleft Lip ◽  
Orofacial Cleft ◽  
Primary Cells ◽  
Palate Development ◽  
Cleft Lip Palate ◽  
Altered Regulation

scholarly journals Dysregulation of Rho GTPases in orofacial cleft patients-derived primary cells leads to impaired cell migration, a potential cause of cleft/lip palate development

2021 ◽  
Vol 165 ◽  
pp. 203656
Author(s):  
Mirvat El-Sibai ◽  
Joelle El Hajj ◽  
Maria Al Haddad ◽  
Nada El Baba ◽  
Mounir Al Saneh ◽  
...  
Keyword(s):  
Cell Migration ◽  
Rho Gtpases ◽  
Cleft Lip ◽  
Orofacial Cleft ◽  
Primary Cells ◽  
Palate Development ◽  
Cleft Lip Palate

scholarly journals Regulation of Rho GTPases by RhoGDIs in Human Cancers

Cells ◽  
2019 ◽  
Vol 8 (9) ◽  
pp. 1037 ◽  
Author(s):  
Cho ◽  
Kim ◽  
Baek ◽  
Kim ◽  
Lee
Keyword(s):  
Cell Migration ◽  
Cancer Progression ◽  
Anticancer Agents ◽  
Rho Gtpases ◽  
Rho Gtpase ◽  
Regulatory Mechanisms ◽  
Malignant Phenotype ◽  
Cellular Processes ◽  
Human Cancers

Rho GDP dissociation inhibitors (RhoGDIs) play important roles in various cellular processes, including cell migration, adhesion, and proliferation, by regulating the functions of the Rho GTPase family. Dissociation of Rho GTPases from RhoGDIs is necessary for their spatiotemporal activation and is dynamically regulated by several mechanisms, such as phosphorylation, sumoylation, and protein interaction. The expression of RhoGDIs has changed in many human cancers and become associated with the malignant phenotype, including migration, invasion, metastasis, and resistance to anticancer agents. Here, we review how RhoGDIs control the function of Rho GTPases by regulating their spatiotemporal activity and describe the regulatory mechanisms of the dissociation of Rho GTPases from RhoGDIs. We also discuss the role of RhoGDIs in cancer progression and their potential uses for therapeutic intervention.

scholarly journals Isoform-Specific Roles of Mutant p63 in Human Diseases

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 536
Author(s):  
Christian Osterburg ◽  
Susanne Osterburg ◽  
Huiqing Zhou ◽  
Caterina Missero ◽  
Volker Dötsch
Keyword(s):  
Cleft Lip ◽  
Ectodermal Dysplasia ◽  
Skin Development ◽  
Disease Mechanisms ◽  
Skin Fragility ◽  
Cleft Lip Palate ◽  
Life Threatening ◽  
Functional Consequences ◽  
Development And Differentiation

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.

scholarly journals Pregnancy Termination in the Case of an Orofacial Cleft: An Investigation of the Concept of Reproductive Autonomy

2020 ◽  
Vol 57 (9) ◽  
pp. 1134-1139
Author(s):  
Kristien Hens ◽  
Greet Hens
Keyword(s):  
Pregnant Woman ◽  
Cleft Lip ◽  
Pregnancy Termination ◽  
Clinical Information ◽  
Orofacial Cleft ◽  
Reproductive Autonomy ◽  
Ethical Theories ◽  
Cleft Lip Palate ◽  
Ethical Approaches ◽  
The Right

Objective: To describe ethical approaches to the issue of pregnancy termination after prenatal detection of cleft lip ± palate. Results: Gynecologists and cleft surgeons are sometimes confronted with the demand for a pregnancy termination after ultrasound detection of an isolated cleft lip/cleft palate. In this article, we discuss different ethical theories and principles that can be applied to the dilemma at hand. We formulate recommendations that will respect the right to autonomy of the pregnant woman and at the same time acknowledge that a termination of pregnancy for a cleft lip may in most cases not be the best option. Conclusion: The recognition of each person’s right to reproductive autonomy also entails that clinicians should make sure that prospective parents are provided with up-to-date and relevant clinical information.

The role of audiological diagnostics in children with cleft lip & palate (CLP)

2009 ◽  
Vol 73 (10) ◽  
pp. 1365-1367 ◽  
Author(s):  
Silky Luthra ◽  
Satbir Singh ◽  
Anu N. Nagarkar ◽  
J.K. Mahajan
Keyword(s):  
Cleft Lip ◽  
Cleft Lip Palate

Opioid Prescribing Practices in Cleft Lip and Cleft Palate Reconstruction

2021 ◽  
pp. 105566562199016
Author(s):  
Reuben A. Falola ◽  
Jordan T. Blough ◽  
Jasson T. Abraham ◽  
Sebastian M. Brooke
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Prescribing Patterns ◽  
Prescribing Practices ◽  
Opioid Prescribing ◽  
Cleft Lip Palate ◽  
Nonopioid Analgesics ◽  
Cleft Lip Repair ◽  
Palate Repair

Introduction: Currently, there is no consensus regarding the role of opioids in the management of perioperative pain in children undergoing cleft lip/palate repair. Method: The present study evaluated opioid prescribing patterns of surgeon members within the American Cleft Palate-Craniofacial Association surgeons utilizing an anonymous survey. Results: Respondents performing cleft lip repair typically operate on patients 3 to 6 months of age (86%), admit patients postoperatively (82%), and discharge them on the first postoperative day (72%). Comparatively, respondents performed palatoplasty between the ages of 10 and 12 months (62%), almost always admit the patients (99%), and typically discharge on the first postoperative day (78%). Narcotics were more frequently prescribed after palatoplasty than after cleft lip repair, both for inpatients (66%; 49%) and at discharge (38%; 22%). Oxycodone was the most prescribed narcotic (39.1%; 41.4%), typically for a duration of 1 to 3 days (81.5%; 81.2%). All surgeons who reported changing their narcotic regimen (34.4% dose, 32.8% duration) after cleft lip repair, decreased both parameters from earlier to later in their career. Similarly, surgeons who changed the dose (32.2%) and duration (42.5%) of narcotics after palatoplasty, mostly decreased both parameters (96%). Additionally, physicians with >15 years of practice were less likely to prescribe opioids in comparison with colleagues with ≤15 years of experience. Ninety-two percent of respondents endorsed prescribing nonopioid analgesics after prescribing cleft surgery, most commonly acetaminophen (85.7%; 85.4%). Conclusion: Cleft surgeons typically prescribe opioids to inpatients and rarely upon discharge. Changes to opioid-prescribing patterns typically involved a decreased dose and duration.

scholarly journals Assessment of role of consanguinity in formation of cleft lip and cleft palate

2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chi Square ◽  
Consanguineous Marriages ◽  
Cleft Lip Palate ◽  
Chi Square Test ◽  
History Of ◽  
Autosomal Recessive Diseases

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.

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