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Human Mutation Sep 2009The human fibroblast growth factor (FGF) family contains 22 proteins that regulate a plethora of physiological processes in both developing and adult organism. The... (Review)
Review
The human fibroblast growth factor (FGF) family contains 22 proteins that regulate a plethora of physiological processes in both developing and adult organism. The mutations in the FGF genes were not known to play role in human disease until the year 2000, when mutations in FGF23 were found to cause hypophosphatemic rickets. Nine years later, seven FGFs have been associated with human disorders. These include FGF3 in Michel aplasia; FGF8 in cleft lip/palate and in hypogonadotropic hypogonadism; FGF9 in carcinoma; FGF10 in the lacrimal/salivary glands aplasia, and lacrimo-auriculo-dento-digital syndrome; FGF14 in spinocerebellar ataxia; FGF20 in Parkinson disease; and FGF23 in tumoral calcinosis and hypophosphatemic rickets. The heterogeneity in the functional consequences of FGF mutations, the modes of inheritance, pattern of involved tissues/organs, and effects in different developmental stages provide fascinating insights into the physiology of the FGF signaling system. We review the current knowledge about the molecular pathology of the FGF family.
Topics: Abnormalities, Multiple; Carcinoma; Cleft Lip; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Hypogonadism; Mutation
PubMed: 19621416
DOI: 10.1002/humu.21067 -
PloS One 2020This study investigates the occurrence of erythematous lip lesions in a captive sun bear population in Cambodia, including the progression of cheilitis to squamous cell...
This study investigates the occurrence of erythematous lip lesions in a captive sun bear population in Cambodia, including the progression of cheilitis to squamous cell carcinoma, and the presence of Ursid gammaherpesvirus 1. Visual assessment conducted in 2015 and 2016 recorded the prevalence and severity of lesions. Opportunistic sampling for disease testing was conducted on a subset of 39 sun bears, with histopathological examination of lip and tongue biopsies and PCR testing of oral swabs and tissue biopsies collected during health examinations. Lip lesions were similarly prevalent in 2015 (66.0%) and 2016 (68.3%). Degradation of lip lesion severity was seen between 2015 and 2016, and the odds of having lip lesions, having more severe lip lesions, and having lip lesion degradation over time, all increased with age. Cheilitis was found in all lip lesion biopsies, with histological confirmation of squamous cell carcinoma in 64.5% of cases. Single biopsies frequently showed progression from dysplasia to neoplasia. Eighteen of 31 sun bears (58.1%) had at least one sample positive for Ursid gammaherpesvirus 1. The virus was detected in sun bears with and without lip lesions, however due to case selection being strongly biased towards those showing lip lesions it was not possible to test for association between Ursid gammaherpesvirus 1 and lip squamous cell carcinoma. Given gammaherpesviruses can play a role in cancer development under certain conditions in other species, we believe further investigation into Ursid gammaherpesvirus 1 as one of a number of possible co-factors in the progression of lip lesions to squamous cell carcinoma is warranted. This study highlights the progressively neoplastic nature of this lip lesion syndrome in sun bears which has consequences for captive and re-release management. Similarly, the detection of Ursid gammaherpesvirus 1 should be considered in pre-release risk analyses, at least until data is available on the prevalence of the virus in wild sun bears.
Topics: Animals; Cambodia; Carcinoma, Squamous Cell; Disease Progression; Erythema; Female; Gammaherpesvirinae; Lip; Lip Diseases; Lip Neoplasms; Male; Phylogeny; Prevalence; Risk Factors; Ursidae
PubMed: 33259561
DOI: 10.1371/journal.pone.0243180 -
Stomatologija 2014OBJECTIVES. Cleft lip palate is congenital growth disease with unknown etiology, probably linked to both genetically and external causes. The aim of this work consists... (Review)
Review
How various surgical protocols of the unilateral cleft lip and palate influence the facial growth and possible orthodontic problems? Which is the best timing of lip, palate and alveolus repair? literature review.
OBJECTIVES. Cleft lip palate is congenital growth disease with unknown etiology, probably linked to both genetically and external causes. The aim of this work consists in presenting the effects of these diseases on cranio facial growth and the surgical protocols described in literature. MATERIALS AND METHODS. The literature review articles conducted by Medline ranged from 1998 to 2011 have been selected. The key words of the research were "cleft lip palate", "cleft lip palate facial growth", "cleft lip palate surgery". The inclusion criteria were articles that analyzed surgical protocols and the growth of unilateral lip and palate clefts, the timing repair of lip, palate and alveolus. We excluded case reports, studies without control group in the sample and the other types of publication as thesis or conference presentation. 60 articles had the selection criteria of the research. RESULTS. The cleft lip and palate is one of the most common birth defects that needs long rehabilitation between birth and adulthood. Several authors have presented surgical protocols and timing. The effects of these diseases on cranio facial growth and the importance of the early intervention have been described. CONCLUSIONS. The review describes the main surgical protocols and treatment strategies of the unilateral lip and palate clefts. The review discusses how surgery effects the midfacial skeletal growth. Studies agree that the palate repair is the main cause of the maxilla growth disturbances. About the timing of palate repair in the unilateral clefts it can be concluded that most studies found no difference between one or two stages palate repair techniques for the midfacial growth. Also from the research, studies agree that delayed hard palate repair has more positive effects on maxillary growth than that of early hard palate repair. Nevertheless good results, delayed hard palate repair technique is abandoned by many hospital centres because of worse speech outcome. The best technique of palate repair is difficult to conclude, because the research results are part of a big controversy between the centers. From the studies about the alveolar repair it can be concluded that the primary bone grafting had more negative results on the skeletal growth. Gingivoperiosteoplasty and the secondary bone grafting had more positive results for intracranial relationship. The studies agree that the best timing of lip repair is during third-sixth month of life and that lip repair could have negative influence on the maxillary growth.
Topics: Age Factors; Alveolar Bone Grafting; Cleft Lip; Cleft Palate; Humans; Malocclusion; Maxilla; Maxillofacial Development; Plastic Surgery Procedures
PubMed: 25209227
DOI: No ID Found -
International Journal of Environmental... Apr 2022Actinic cheilitis (AC) is a chronic inflammation of the lip considered an oral, potentially malignant disorder associated with an increased risk of lip squamous cell... (Review)
Review
Actinic cheilitis (AC) is a chronic inflammation of the lip considered an oral, potentially malignant disorder associated with an increased risk of lip squamous cell carcinoma (SCC) development. Controversies surrounding current therapeutic modalities of AC are under debate, and the implications of laser treatment have not been specifically investigated through a systematic review design. The present study aims to evaluate the degree of evidence of laser for the treatment of AC in terms of efficacy and safety. We searched for primary-level studies published before January 2022 through MEDLINE/PubMed, Embase, Web of Science, Scopus and CENTRAL, with no limitation in publication language or date. We evaluated the methodological quality and risk of bias of the studies included using the updated Cochrane Collaboration's tool for assessing risk of bias (RoB-2). Twenty studies (512 patients) met our eligibility criteria. Laser therapy showed a complete clearance of AC in 92.5% patients, with a maximum recurrence rate of 21.43%, and a very low frequency of malignant transformation to SCC (detected in only 3/20 studies analyzed). In addition, cosmetic outcomes and patient satisfaction were described as excellent. In conclusion, our findings indicate that laser therapy is a high efficacy approach to AC.
Topics: Carcinoma, Squamous Cell; Cheilitis; Humans; Laser Therapy; Lip Neoplasms
PubMed: 35457467
DOI: 10.3390/ijerph19084593 -
Archives of Oral Biology May 2017Thioredoxin (Trx) and metallothionein (MT) are involved in the development of some carcinomas; however, the role of these proteins in labial carcinogenesis has not yet...
OBJECTIVE
Thioredoxin (Trx) and metallothionein (MT) are involved in the development of some carcinomas; however, the role of these proteins in labial carcinogenesis has not yet been tested. The aims of the study were to evaluate and to correlate the immunoexpression of Trx and MT in actinic cheilitis, lip squamous cell carcinoma, and normal vermillion lip mucosa.
DESIGN
Immunohistochemistry was undertaken for Trx and MT in samples of actinic cheilitis, lip squamous cell carcinoma, and normal lip mucosa. Qualitative and semi-quantitative evaluations were conducted. The proportion of stained cells, intensity of staining, and the cell compartment labeled were evaluated. A quickscore index was also calculated by multiplying the values of extension and intensity of nuclear and cytoplasmic staining, respectively, giving a maximum value of 9. Statistics were performed.
RESULTS
A remarkable nuclear Trx staining was seen in normal lip mucosa and cheilitis, not in carcinoma (p<0.05). Cytoplasmic Trx expression was widely detected in all lesions (p>0.05). MT was broadly expressed in nuclei and cytoplasm of carcinoma, but not in normal lip mucosa and cheilitis (p<0.05). Quickscores were in accordance with the qualitative results.
CONCLUSIONS
The current study showed a different immunopattern of Trx and MT between normal lip mucosa, actinic cheilitis and lip squamous cell carcinoma. The cellular compartment-based analyses evidenced differences that can be related to the proteins function. Considering the relevant roles of these proteins in cellular homeostasis, they seem to have an important role in lip carcinogenesis.
Topics: Aged; Biomarkers, Tumor; Carcinoma, Squamous Cell; Cheilitis; Female; Humans; Immunohistochemistry; Lip Neoplasms; Male; Metallothionein; Middle Aged; Neoplasm Grading; Thioredoxins
PubMed: 28183007
DOI: 10.1016/j.archoralbio.2017.01.020 -
Journal of Oral Pathology & Medicine :... Nov 2021To discuss the terminology to define and classify actinic cheilitis (AC) and to build a consensus on the diagnostic and therapeutic approaches to AC. (Review)
Review
AIMS
To discuss the terminology to define and classify actinic cheilitis (AC) and to build a consensus on the diagnostic and therapeutic approaches to AC.
METHODS
Two-round Delphi study using a questionnaire including 34 closed sentences (9 on terminology and taxonomy, 5 on potential for malignant transformation, 12 on diagnostic aspects, 8 on treatment) and 8 open questions. Experts' agreement was rated using a Likert scale (1-7).
RESULTS
A consensus was reached on 24 out 34 statements (73.5%) and on 5 out of 8 (62.5%) close-ended questions. The response rate was identical in both rounds (attrition of 0%). AC is the term with the highest agreement (median of 7 (strongly agree; IQR: 6-7)) and the lowest dispersion (VC = 21.33). 'Potentially malignant disorder' was the preferred classification group for AC (median of 7) and 85.6% of participants showing some level of agreement (CV < 50). Experts (66.75%) consider AC a clinical term (median: 7; IQR: 4-7) and believe definitive diagnosis can be made clinically (median: 6; IQR: 5-7), particularly by inspection and palpation (median: 5; IQR: 4-6). Histopathological confirmation is mandatory for the management of AC (median: 5; IQR: 2.5-7), even for homogeneous lesions (median: 5; IQR: 3.5-6). Consensus was reached on all treatment statements (VC < 50).
CONCLUSIONS
AC is a potentially malignant disorder with a significant lack of agreement on diagnostic criteria, procedures, biopsy indications and the importance of techniques to assist in biopsy. A consensus was reached on nomenclature and management of this disorder.
Topics: Cheilitis; Consensus; Delphi Technique; Humans; Surveys and Questionnaires
PubMed: 33998055
DOI: 10.1111/jop.13200 -
The Pan African Medical Journal 2022
Topics: Infant; Humans; Cleft Lip; Pulmonary Alveoli; Tooth Socket; Gastrointestinal Diseases; Palate
PubMed: 36451981
DOI: 10.11604/pamj.2022.42.316.33040 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Aug 2023The maxillofacial region has multiple functions such as breathing, language, and facial expressions. Children's maxillofacial development is a complex and long process,...
The maxillofacial region has multiple functions such as breathing, language, and facial expressions. Children's maxillofacial development is a complex and long process, which is affected by many factors such as genetics, diseases, bad habits and trauma. Early detection, early diagnosis, and early treatment are important concepts in children's maxillofacial management. Digital technology medicine is an emerging technology based on medical imaging and anatomy that has emerged in recent years. The application of this technology in the field of clinical medicine will undoubtedly bring great benefits to children's maxillofacial management. This article summarizes the research on digital technology in children's maxillofacial management, and focuses on the research on children's malocclusion, children's OSA, cleft lip and palate and other related diseases.
Topics: Humans; Child; Cleft Lip; Cleft Palate; Digital Technology; Respiration
PubMed: 37551577
DOI: 10.13201/j.issn.2096-7993.2023.08.013 -
Canadian Medical Association Journal Jan 1980Cleft lip or palate or both is one of the common congenital conditions in Ontario; its incidence is 1.2 to 1.6 per 1000 live births. A review of the records of 358... (Review)
Review
Cleft lip or palate or both is one of the common congenital conditions in Ontario; its incidence is 1.2 to 1.6 per 1000 live births. A review of the records of 358 patients showed that 40%, particularly those with a severe defect, had other medical problems. This condition can affect the children and their families in many ways. In early life many patients undergo surgical repair and have speech, hearing and dental problems; during adolescence they may have cosmetic, orthodontic and emotional problems. Many parents are concerned about the genetic implications of the defect. This variety of problems requires management by several health care disciplines. Many Canadian health sciences centres offer multidisciplinary team management in a cleft palate clinic. The child's primary care physician, with whom the team exchanges information, plays a significant role in helping the child and the family function optimally.
Topics: Adolescent; Child; Child, Preschool; Cleft Lip; Cleft Palate; Feeding Behavior; Female; Genetic Counseling; Humans; Infant; Infant, Newborn; Language Disorders; Mouth Mucosa; Patient Care Team; Sex Ratio; Speech Disorders; Time Factors; Tooth Diseases
PubMed: 6988061
DOI: No ID Found -
Advances in Clinical and Experimental... 2016Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The... (Review)
Review
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin. The aim of this study was to present various clinical aspects and the latest discoveries with regard to genetic research in complex malformations, such as Van der Woude syndrome, popliteal pterygium syndrome, EEC syndrome, Pierre Robin sequence, various forms of Stickler syndrome, and Treacher Collins syndrome. These complex syndromes have different incidences, and most of them also have allelic variants with characteristic severities that differ even among close relatives. Easier access to genetic counseling and the lower cost of DNA testing in recent years can lead to new findings on the causes of such syndromes.
Topics: Abnormalities, Multiple; Cleft Lip; Genetic Predisposition to Disease; Humans
PubMed: 28028964
DOI: 10.17219/acem/61911