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PeerJ 2022FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of...
FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of has been emphasized by the identification of abnormalities in human congenital disorders affecting different organs and systems. Single-nucleotide variants in or -involving copy-number variant deletions have been reported in families with lacrimo-auriculo-dento-digital syndrome, aplasia of the lacrimal and salivary glands, or lethal lung developmental disorders. Abnormalities involving have also been implicated in cleft lip and palate, myopia, or congenital heart disease. However, the exact developmental role of and large phenotypic heterogeneity associated with disruption remain incompletely understood. Here, we review human and animal studies and summarize the data on mechanism of action, expression, multi-organ function, as well as its variants and their usefulness for clinicians and researchers.
Topics: Animals; Humans; Cleft Lip; Cleft Palate; Lacrimal Apparatus Diseases; Lacrimal Apparatus; Syndactyly; Lung Diseases; Fibroblast Growth Factor 10
PubMed: 36124135
DOI: 10.7717/peerj.14003 -
The Journal of Clinical Pediatric... May 2023To assess the growth status of children with non-syndromic oral clefts (NSOC) and explore potential influencing factors. The data of NSOC children aged ≤5 years...
To assess the growth status of children with non-syndromic oral clefts (NSOC) and explore potential influencing factors. The data of NSOC children aged ≤5 years hospitalized between December 2018 and June 2020 were retrieved and evaluated, including their height, weight, NSOC subtypes and demographic characteristics before reparative surgeries. The growth status of the children was assessed using height-for-age Z-score (HAZ), weight-for-age Z-score (WAZ) and weight-for-height Z-score (WHZ). In total, 504 NSOC children (271 females & 233 males) were included. The proportion of stunting (HAZ <-2), underweight (WAZ <-2) and wasting (WHZ <-2) was 4.96%, 5.16% and 3.97%, respectively. In addition, we observed that HAZ and WAZ decreased with increasing age (both < 0.01). Moreover, non-syndromic cleft palate only (NSCP) and non-syndromic cleft lip and palate (NSCLP) were associated with lower HAZ and WAZ compared with non-syndromic cleft lip only (NSCL) (all < 0.01), while NSCLP was associated with a lower WHZ compared with NSCL ( < 0.01). The growth retardation and low weight rate of NSOC children under 5 years old were higher than the national average level and differed by the age of NSOC children and disease subtypes. Further improvements are warranted to promote the growth status of the NSOC-affected children.
Topics: Male; Female; Humans; Child; Child, Preschool; Cleft Lip; Cleft Palate; Growth Disorders
PubMed: 37143422
DOI: 10.22514/jocpd.2023.023 -
The Tohoku Journal of Experimental... Mar 2022The Tohoku University Hospital has been a clinical and research facility for all the related departments of Tohoku University. Medical-dental and interprofessional...
The Tohoku University Hospital has been a clinical and research facility for all the related departments of Tohoku University. Medical-dental and interprofessional collaboration has resulted in special treatment teams, made up of members of departments such as the center for head and neck cancer, the center for dysphagia, and the cleft lip and palate center. Those treatment teams held conferences, case study meetings, reading sessions, and in-hospital seminars. The purpose of this study was to evaluate the outcomes of various medical-dental and the interprofessional collaboration at Tohoku University Hospital and training program to equip hospital dentists in higher medical institutions. The attainment targets are the acquisition of basic medical skills and knowledge under the guidance of supervising doctors. As a result, the hospital dentists could acquire their own specialized knowledge and skills certificated by each academic society. The smooth team treatment has been achieved, and the number of cases discussed by cancer boards and center for dysphagia has increased year by year due to the efficiency of their clinical pathways. On the dental care side as well, the wearing rates of maxillofacial prosthetic devices such as maxillofacial prostheses and palatal augmentation prostheses (PAP) have improved, which have contributed to improving patient's stomatognathic function. Tohoku University Hospital has been practicing collaboration between medical and dental professionals and it has produced mutual benefits. Our interprofessional training system based on the medical-dental collaboration could develop professionals who have acquired cross-disciplinary knowledge and skills from experienced doctors.
Topics: Cleft Lip; Cleft Palate; Hospitals, University; Humans; Interprofessional Relations
PubMed: 35314530
DOI: 10.1620/tjem.256.225 -
Australian Dental Journal Jun 2014The field of dental phenomics provides many opportunities to elucidate the roles of genetic, epigenetic and environmental factors in craniofacial development. To date,... (Review)
Review
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.
Topics: Biomedical Research; Cleft Lip; Cleft Palate; Dental Caries; Dentition; Diagnosis, Computer-Assisted; Epigenesis, Genetic; Forecasting; Genotype; Gingiva; Humans; Imaging, Three-Dimensional; Mouth Diseases; Phenotype; Tooth
PubMed: 24611797
DOI: 10.1111/adj.12156 -
Singapore Medical Journal Jun 2015A congenital lip sinus is a rare condition that has been reported to occur in both the upper and lower lips, either in isolation or in association with congenital... (Review)
Review
A congenital lip sinus is a rare condition that has been reported to occur in both the upper and lower lips, either in isolation or in association with congenital deformities such as a cleft lip and palate in Van der Woude syndrome. The prevalence of lower lip sinuses has been estimated to be about 0.00001% of the white population. Upper lip sinuses are even more uncommon. To date, there have been several case reports of upper lip sinuses and fistulas, but no similar cases have been described in Singapore. We herein report a case of congenital upper lip sinus presenting as a recurring upper lip abscess and review the current literature on this condition.
Topics: Child; Female; Fistula; Humans; Inflammation; Lip; Lip Diseases; Singapore; Surgical Procedures, Operative; Treatment Outcome
PubMed: 26106248
DOI: 10.11622/smedj.2015096 -
Einstein (Sao Paulo, Brazil) 2022To evaluate the prevalence of actinic cheilitis in rural workers and factors associated with the development of this condition.
OBJECTIVE
To evaluate the prevalence of actinic cheilitis in rural workers and factors associated with the development of this condition.
METHODS
A cross-sectional study was conducted in a city in Northeastern Brazil. Data were collected by clinical examination and use of a questionnaire validated with 300 rural workers. The χ2 test was employed to identify possible associations between the presence of actinic cheilitis and clinical and demographic variables. Multiple logistic regression analysis was performed using forward stepwise selection. A p value of 0.05 was considered significant.
RESULTS
The prevalence of actinic cheilitis was 12.0% in the sample. The highest prevalence of actinic cheilitis was observed in white males, with low educational level, and an approximately 40-year history of sun exposure. Chronic lesions were commonly found in the lower lip and were characterized by scaling, dryness, and mild edema. Skin color, sex, educational level of patients, and cumulative sun exposure (in years), were identified as predictors of development of actinic cheilitis.
CONCLUSION
Our results suggest the need to implement educational health strategies aimed to orient the population about risk factors and preventive measures of the disease. Appropriate clinical management of patients with actinic cheilitis is important for prevention of lip cancer.
Topics: Cheilitis; Cross-Sectional Studies; Humans; Male; Prevalence; Rural Population
PubMed: 35649060
DOI: 10.31744/einstein_journal/2022AO6862 -
Brazilian Oral Research 2018Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities...
Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P) from Rio Grande do Norte (RN), Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.
Topics: Adolescent; Adult; Brazil; Child; Child, Preschool; Cleft Lip; Cleft Palate; Comorbidity; Consanguinity; Female; Humans; Infant; Male; Maternal Age; Maternal Exposure; Pregnancy; Prevalence; Risk Assessment; Risk Factors; Sex Factors; Smoking; Young Adult
PubMed: 29641641
DOI: 10.1590/1807-3107bor-2018.vol32.0024 -
European Journal of Medical Research Feb 2024Cleft lip and palate is a congenital craniofacial anomaly that affects the lip and oral cavity. The management and orthodontic treatment of this anomaly is important but... (Review)
Review
Cleft lip and palate is a congenital craniofacial anomaly that affects the lip and oral cavity. The management and orthodontic treatment of this anomaly is important but challenging. This article reports the successful treatment of a patient with bilateral cleft lip and palate, Class III malocclusion, bilateral crossbite, crowding and microdontic maxillary lateral incisors. One mandible incisor was extracted, and three miniscrew anchorages were utilized to distalize the maxillary left dental arch and retract the mandibular arch. After treatment, ideal occlusion and a better profile were established, and long-term stability was confirmed by a 4-year follow-up. This article represents a successful attempt of orthodontic camouflage treatment of severe dentofacial discrepancy, as an important part of the series treatment of cleft lip and palate, to provide some insight into the clinical field.
Topics: Humans; Cleft Lip; Incisor; Cleft Palate; Malocclusion
PubMed: 38347657
DOI: 10.1186/s40001-023-01589-3 -
American Journal of Medical Genetics.... May 2023AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is...
AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOTL1 variants and define a core phenotype of orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations in individuals with variants in AMOTL1 affecting amino acids 157-161, a functionally undefined but highly conserved region. Three individuals with AMOTL1 variants outside this region are also described who had variable presentations with orofacial clefting and multi-organ disease. Our case cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157-161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Topics: Humans; Cleft Palate; Cleft Lip; Mutation; Mutation, Missense; Heart Defects, Congenital; Angiomotins
PubMed: 36751037
DOI: 10.1002/ajmg.a.63130 -
Nigerian Journal of Clinical Practice Sep 2023In early-stage lip cancer, spread to cervical lymph nodes is extremely rare. Elective neck treatment options include suprahyoid or supraomohyoid neck dissection,...
BACKGROUND
In early-stage lip cancer, spread to cervical lymph nodes is extremely rare. Elective neck treatment options include suprahyoid or supraomohyoid neck dissection, sentinel lymph node biopsy, or close follow-up. Aim: In this study, our aim was to investigate the effect of elective surgery on survival in patients operated for early-stage lip cancer.
METHODS
Patients who underwent surgical treatment for lower lip squamous cell carcinoma between 2005 and 2020 were retrospectively analyzed. Age, gender, neck dissection status (yes/no), clinical and pathological T stage of the tumor, grade, and perineural invasion were recorded and 3-year and 5-year overall (OS) and disease-free survival (DFS) rates were estimated.
RESULTS
Thirty patients were included: 20 patients had pT1 and 10 patients had pT2 tumors. Neck dissection was performed in 13 patients. The 5-year OS rate was 90.9% and 87.8% with and without dissection, respectively. Neck dissection did not appear to affect OS (P = 0.534) in these patients. The 5-year DFS rate was 96.4% in the overall group, while it was 91.7% and 100% in patients who did or did not undergo neck dissection, respectively (P = 0.756).
DISCUSSION
Patients with or without neck dissection did not differ significantly in terms of OS and DFS. Watchful waiting with regular ultrasound imaging of the neck in patients with T1 and T2 lip tumors may be an appropriate therapeutic option.
Topics: Humans; Neck Dissection; Lip Neoplasms; Retrospective Studies; Neoplasm Staging; Lymphatic Metastasis; Head and Neck Neoplasms
PubMed: 37794543
DOI: 10.4103/njcp.njcp_36_23