scholarly journals Downregulation of WNT8A, LRP5, LRP6 and FGF8 in Malay Non-Syndromic Cleft Lip and/or Palate Patients

2021 ◽  
Vol 50 (11) ◽  
pp. 3303-3311
Author(s):  
Nurul Syazana Mohamad Shah ◽  
Wan Azman Wan Sulaiman ◽  
Sarina Sulong ◽  
Ahmad Sukari Halim

Non-syndromic cleft lip and/or palate (NSCL/P) is a one of the most common birth defects occurs as a result of multi-factorial determinants such as genetic and environmental factors. Genetic factor has been studying widely across different population in identifying genes causing cleft defects. This study aims to validate the role of fibroblast growth factors (FGFs) and signalling molecules Wingless-type (Wnt) to the occurrence of cleft lip and/or palate among Malay population. Tissue skin was obtained from consented NSCL/P patients who underwent the cleft lip repair operation at the upper lip skin area and non NSCL/P individual was obtained from patient having traumatic injury at the lip area as a control. Expression pattern of FGF8, FGF10, Wnt8a, and LRP5/6 were tested and validated using Western Blot (WB) and quantitative Reverse Transcriptase-PCR (qRT-PCR). The fold change difference of FGF8 (0.614 ± 0.1012-fold), FGF10 (0.7188 ± 0.1017-fold) and Wnt8a protein (0.9051 ± 0.0142-fold) was downregulated by 1-fold in cleft lip (CL) tissues compared to the normal meanwhile LRP5/6 protein (1.2201 ± 0.1404-fold) was found upregulated by 1-fold. Validation testing confirmed that expression of FGF8 (p=0.014), Wnt8a (0.0762 ± 0.0227), LRP5 (0.3577 ± 0.1362) and LRP6 (0.3093 ± 0.2541) were significantly reduced in CL tissues compared to normal. This is the first study identified defective regulation of Wnt8a, LRP5, LRP6 and FGF8 in NSCL/P among Malays. These novel findings clearly explained the important role of growth factors FGF and Wnt signalling pathway in lip and palate formation during craniofacial development.

2021 ◽  
pp. 105566562199016
Author(s):  
Reuben A. Falola ◽  
Jordan T. Blough ◽  
Jasson T. Abraham ◽  
Sebastian M. Brooke

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.


1992 ◽  
Vol 50 (3) ◽  
pp. 263-268 ◽  
Author(s):  
Michael Stern ◽  
Brian Schmidt ◽  
Thomas B. Dodson ◽  
Robert Stern ◽  
Leonard B. Kaban

Author(s):  
Praveen Kumar Neela ◽  
Anjana Atteeri ◽  
Pavan Kumar Mamillapalli ◽  
Vasu Murthy Sesham ◽  
Sreekanth Keesara ◽  
...  

AbstractThe development of craniofacial complex and dental structures is a complex and delicate process guided by specific genetic mechanisms. Genetic and environmental factors can influence the execution of these mechanisms and result in abnormalities. An insight into the mechanisms and genes involved in the development of orofacial and dental structures has gradually gained by pedigree analysis of families and twin studies as well as experimental studies on vertebrate models. The development of novel treatment techniques depends on in-depth knowledge of the various molecular or cellular processes and genes involved in the development of the orofacial complex. This review article focuses on the role of genes in the development of nonsyndromic orofacial, dentofacial variations, malocclusions, excluding cleft lip palate, and the advancements in the field of molecular genetics and its application to obtain better treatment outcomes.


2021 ◽  
Vol 15 (3) ◽  
pp. 62-71
Author(s):  
Ekaterina S. Koroleva ◽  
Valentina M. Alifirova

Scientific achievements of recent decades indicate that neurogenesis and angiogenesis are interrelated processes in the struggle for functional recovery after ischaemic stroke. This literature review presents current data on the neurovascular interactions in ischaemic stroke, and describes the role of signalling molecules and growth factors in the regulation of neurogenesis and angiogenesis, which are crucial for neuronal survival and neuroplasticity. The authors conducted a literature search for abnormal neuroblast migration into the ischaemic penumbra and the role of signalling molecules, molecular targets of angiogenesis, and role of endogenous growth factors and neurochemical markers in post-stroke vascular regulation in acute cerebral ischaemia. Relevant keywords were entered into the PubMed and Google Scholar search engines, as well as Scopus, Web of Science, MedLine, The Cochrane Library, EMBASE, Global Health, CyberLeninka, eLibrary, and other databases. Despite promising results obtained in animal models, and the data from clinical studies, deeper interrelationships between molecular and cellular interactions of neurogenesis and angiogenesis are still not entirely clear. Further study and understanding of complex interactions between neurogenesis and angiogenesis is needed to find targets for exogenous growth factor administration and changes in endogenous molecule expression for treatment of ischaemic brain injury.


Development ◽  
1994 ◽  
Vol 1994 (Supplement) ◽  
pp. 53-60 ◽  
Author(s):  
Brigid L. M. Hogan ◽  
Manfred Blessing ◽  
Glenn E. Winnier ◽  
Noboru Suzuki ◽  
C. Michael Jones

Embryonic induction, the process by which signals from one cell population influence the fate of another, plays an essential role in the development of all organisms so far studied. In many cases, the signalling molecules belong to large families of highly conserved proteins, originally identified as mammalian growth factors. The largest known family is related to Transforming Growth Factor-β (TGF-β) and currently consists of at least 24 different members. Genetic studies in Drosophila on the TGF-β related gene, decapentaplegic (dpp), reveal the existence of conserved mechanisms regulating both the expression of the protein during development and the way in which it interacts with other signalling molecules to generate pattern within embryonic tissues. Comparative studies on another TGF-β related gene, known as Bone Morphogenetic Protein-4 (BMP-4), in Xenopus and mouse point to a conserved role in specifying posteroventral mesoderm during gastrulation. Analysis of other polypeptide signalling molecules during gastrulation suggests that their interaction in the generation of the overall body plan has also been conserved during vertebrate evolution.


2021 ◽  
Vol 54 (2) ◽  
pp. 108
Author(s):  
Agung Sosiawan ◽  
Mala Kurniati ◽  
Coen Pramono Danudiningrat ◽  
Dian Agustin Wahjuningrum ◽  
Indra Mulyawan

Background: Cleft lip with or without cleft palate (CL/P) is a facial growth ‘disorder that occurs during gestation and has multifactorial causes owing to both genetic and environmental factors. Several factors can increase the likelihood of CL/P, and one of them is family history. Differences in results obtained from studies conducted across several countries concerning family history as a risk factor for CL/P suggest there is no consensus on how the condition is inherited. Purpose: This study aims to review the literature on the role of family history as a risk factor contributing to the incidence of non-syndromic CL/P (NSCL/P). Review: This review discusses the etiology of CL/P and the risk factors influencing the incidence of CL/P. The review also examines the criteria for inheriting multifactorial disorders to calculate the risks involved should there be a recurrence of the condition based on family history. Conclusion: CL/P is a type of multifactorial disorder with unclear etiology. Therefore, it is important to investigate the risk factors stemming from family history (which play an important role) related to the recurrence risk. Additionally, there should be focus on increasing genetic education and offering counselling to parents and pregnant women.


2004 ◽  
Vol 171 (4S) ◽  
pp. 365-365
Author(s):  
Tamer M. Said ◽  
Shyam Allamaneni ◽  
Kiran P. Nallella ◽  
Rakesh K. Sharma ◽  
Mohamed A. Bedaiwy ◽  
...  
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