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1.
Clinics (Sao Paulo) ; 78: 100266, 2023.
Article in English | MEDLINE | ID: mdl-37567043

ABSTRACT

OBJECTIVE: The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. METHODS: This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. RESULTS: Folic acid supplementation was observed in 116 (87.8%) of the case group (p < 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p = 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p = 0.13), while 247 (88.8%) reported consumption in the control group. CONCLUSIONS: The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.


Subject(s)
Cleft Lip , Cleft Palate , Tobacco Smoke Pollution , Pregnancy , Female , Child , Humans , Infant, Newborn , Infant , Child, Preschool , Cleft Palate/complications , Cleft Lip/etiology , Tobacco Smoke Pollution/adverse effects , Caffeine/adverse effects , Case-Control Studies , Risk Factors , Folic Acid
2.
Br Dent J ; 234(12): 931-936, 2023 06.
Article in English | MEDLINE | ID: mdl-37349449

ABSTRACT

Introduction In many cases, children with oral clefts present with accompanying medical conditions. These associated conditions can add complexity to the patient's dental management, both in terms of their treatment need and risk. Recognition and careful consideration of associated medical conditions is therefore crucial in providing safe and effective care for these patients.Aim This paper is the second in a two-part three-centre series. It investigates the prevalence of medical conditions affecting cleft lip and/or palate patients attending three cleft units within the UK.Method Retrospective review was undertaken within three cleft units: South Wales (SW), Cleft NET East (CNE) and West Midlands (WM). This was completed via assessment of the 10-year audit record appointment clinical notes for the year 2016/2017.Results In total, 144 cases were reviewed (SW = 42; CNE = 52; WM = 50). Of these, 38.9% of patients (n = 56) had associated medical conditions recorded.Discussion The review highlights the variety and impact of medical conditions affecting UK cleft patients providing insight into the consequent complexity of their dental care.Conclusion An awareness of cleft lip and/or palate patients' associated medical conditions is important for all health care professionals involved in their care. Indeed, understanding of the patient's medical needs by multidisciplinary cleft teams is essential for effective planning and completion of holistic care. Involvement of specialists in paediatric dentistry sharing care with general dental practitioners is vital in providing appropriate oral health care and preventive support.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Child , Cleft Lip/complications , Cleft Lip/epidemiology , Cleft Palate/complications , Cleft Palate/epidemiology , Retrospective Studies , Dentists , Professional Role
3.
Biomed Pharmacother ; 142: 111992, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34365060

ABSTRACT

BACKGROUND: The anti-inflammatory and antibacterial action of preparations used during oral hygiene procedures is particularly important in patients with oral cleft. Few reports have been published assessing the influence of natural products on the state of the oral cavity in patients with oral cleft. The aim of this study was to assess the effect of toothpaste containing Polish propolis and plant oils on oral cavity health in patients with oral cleft treated orthodontically. MATERIALS AND METHODS: A total of 50 patients aged 9-16 years old (20 females, 23 males) were selected and randomly assigned into two groups. Group (A) received toothpaste with Polish propolis, tea tree oil, menthol, and rosemary oil. Group (B) received toothpaste without active ingredients (placebo). A baseline assessment was followed by an oral hygiene index (OHI, debris OHI-D, and calculus OHI-C component) and gingival bleeding index (GBI) after 35 days. The methodology of the oral condition assessment included the presence of cleft malformation as a dysmorphic of the anterior maxilla segment. RESULTS: In group A, improvement in oral cavity hygiene assessed for incisors and molars was found (OHI-T p = 0.011). For the gingival condition, a decrease in the gingival bleeding index - total (GBI-T p = 0.002), as well as for the incisors (GBI-I p = 0.007) and molars (GBI-M p = 0.017) was found. CONCLUSIONS: This research confirms the biological effectiveness of toothpaste with Polish propolis and plant oils. These results may be clinically useful for improving preventative oral care and for control of oral infectious diseases during orthodontic treatment in patients with oral cleft.


Subject(s)
Gingivitis/prevention & control , Oral Hygiene , Propolis/pharmacology , Toothpastes/pharmacology , Adolescent , Child , Cleft Lip/complications , Cleft Palate/complications , Female , Humans , Male , Menthol/administration & dosage , Menthol/pharmacology , Mouth , Oils, Volatile/administration & dosage , Oils, Volatile/pharmacology , Oral Hygiene Index , Propolis/administration & dosage , Tea Tree Oil/administration & dosage , Tea Tree Oil/pharmacology , Toothpastes/chemistry
4.
Khirurgiia (Mosk) ; (4): 88-94, 2020.
Article in Russian | MEDLINE | ID: mdl-32352676

ABSTRACT

OBJECTIVE: Is to evaluate the advantage of Contractubex gel with regards to influence on vascularisation, pigmentation, thickness, surface size, configuration, and elisticity of postsurgical scars of children (after cheilorinoplasty) in comparison to absence of systematized topical treatment. MATERIAL AND METHODS: Into the prospective, non-interventional, observational, multi-centered, in parallel groups, open, controlled study were included 60 patients aged 2,5 months and older with postsurgical scars after first cheilorinoplasty after 7-14 day after operation. Patients were randomized into 2 groups of 30 patients in each. I group - patients get applications of Contractubex gel 3 times a day (in the morning, in the afternoon, in the evening) in accordance with patient information leaflet. II group - control group with no regular therapy of of postsurgical scars (without treatment or without application of oils and gels with anticsarring action). The period of medicine usage - 9 months and more for each patient, the each patient observation duration is 18 months. RESULTS: After analysis of the primary as well as secondary efficacy criteria (total grade based on POSAS scale, reported by investigator/parent) after 3, 6, 12, 18 months of observation in both groups a positive statistically significant dynamics was registered. At the same time in the Contractubex group results were statistically significantly better than in the control group. Positive dynamics was achieved quickier in the main group than in the contol group and was to observe already after 3 months of therapy, during the whole treatment and observation phase, and after 18 months of therapy. Additionally conducted photodocumentation of postsurgical scar development dynamics in terms of the study confirms positive effect of surgery and absence of visual data regarding keloids or hyperthrophic scars formation in patients in both groups. Adverse events, i. a. pain, itch, burning, long-run hyperemia were not registered during the whole period os study. CONCLUSION: The conducted study has shown high efficacy and safety of Contractubex usage for the treatment of postsurgical scars of children with with congenital cleft lip and palate (from 2,5 months old). The statistically significant advantage of the therapy with Contractubex was demonstrated in comparison with the control group (with no regular topical treatment). The obtained results allow to recommend Contractubex gel as an effective and safe medicine for the treatment of scarring after surgeries for kids directly after sutures removal.


Subject(s)
Allantoin/administration & dosage , Cicatrix/drug therapy , Cleft Lip/surgery , Cleft Palate/surgery , Dermatologic Agents/administration & dosage , Heparin/administration & dosage , Plant Extracts/administration & dosage , Cicatrix/etiology , Cleft Lip/complications , Cleft Palate/complications , Drug Combinations , Gels/administration & dosage , Humans , Infant , Postoperative Complications/drug therapy , Prospective Studies , Treatment Outcome
5.
Calcif Tissue Int ; 107(1): 96-103, 2020 07.
Article in English | MEDLINE | ID: mdl-32337609

ABSTRACT

Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.


Subject(s)
Cleft Palate/complications , Exophthalmos/complications , Hypophosphatemia/etiology , Microcephaly/complications , Osteosclerosis/complications , Abnormalities, Multiple , Casein Kinase I/genetics , Extracellular Matrix Proteins/genetics , Humans , Infant , Male
6.
Int J Pediatr Otorhinolaryngol ; 127: 109644, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31442732

ABSTRACT

OBJECTIVE: It is generally recognized the most common pediatric otologic surgical procedure is ventilation tube insertion (VTI). Tympanoplasty and mastoidectomy are more frequently performed on adults. In this study we examined the incidence and age distribution of these procedures by use of a population-based birth cohort design, in order to provide an overall view of the role of these procedures in the pediatric population. MATERIALS AND METHODS: We used the national health insurance research database in Taiwan. We retrieved data on all patients born in the years 2000 and 2001, subsequently underwent VTI, tympanoplasty or mastoidectomy from 2000 to 2013. The incidence and age distribution of these procedures were analyzed. RESULTS: The cumulative incidence of VTI, tympanoplasty, and mastoidectomy was 0.41%, 0.02% and 0.025%, respectively. VTI were more often performed on children 4 or 5 years of age. Tympanoplasties are frequently done on children older than 5, and 30.7% of them had earlier VTI. The time interval from VTI to tympanoplasty was 5.18 ±â€¯2.27 years (mean ±â€¯SD). Mastoidectomies are more often performed on children from 2 to 9 years of age. CONCLUSIONS: VTI was the most frequent otologic surgery for the pediatric population, and was more often performed on children 4-5 years old. Also, tympanoplasty is more frequently performed on children older than 5, and a third of them had prior VTI. Overall, the time interval from VTI to tympanoplasty was 5.18 years. Furthermore, children with cleft palate and congenital metabolic disorder were more prone to otologic surgical procedures.


Subject(s)
Mastoidectomy/statistics & numerical data , Middle Ear Ventilation/statistics & numerical data , Tympanoplasty/statistics & numerical data , Age Distribution , Child , Child, Preschool , Cleft Palate/complications , Cohort Studies , Databases, Factual , Humans , Infant , Infant, Newborn , National Health Programs/statistics & numerical data , Retrospective Studies , Taiwan
7.
Laryngoscope ; 126(7): 1524-8, 2016 07.
Article in English | MEDLINE | ID: mdl-27075516

ABSTRACT

OBJECTIVES/HYPOTHESIS: Evaluate the effect of topical application of autologous platelet-rich plasma (PRP) in primary repair of complete cleft palate and then compare the result with another group of patients using the same surgical technique, without application of PRP with regard to the incidence of oronasal fistula, velopharyngeal closure, and grade of nasality. STUDY DESIGN: Case control study. METHODS: This study was carried on 44 children with complete cleft palate with age range from 12 to 23 months. The children were divided into two age- and gender-matched groups: All children were subjected to the same technique of V-Y pushback repair of the complete cleft palate. In group A (22 children), the PRP prepared from the patient was topically applied between the nasal and oral mucosa layer during palatoplasty, whereas in group B (22 children) the PRP was not applied. RESULTS: All cases were recovered smoothly without problems. In group A, no oronasal fistula was reported, whereas in group B three patients (13.6%) had postoperative fistulae and two patients (9.1%) needed revision palatoplasty. At 6 months postoperative assessment, group A (with PRP application) showed significantly better grade of nasality (P = 0.024) and better endoscopic velopharyngeal closure (P = 0.016) than group B. CONCLUSION: Usage of autologous PRP in complete cleft palate repair is simple; effective; can decrease the incidence of oronasal fistula; and also significantly improves the grade of nasality and velopharyngeal closure, which decreases the need of further surgical intervention in cleft palate patients. LEVEL OF EVIDENCE: 3b. Laryngoscope, 126:1524-1528, 2016.


Subject(s)
Blood Transfusion, Autologous/methods , Cleft Palate/surgery , Plastic Surgery Procedures/methods , Platelet-Rich Plasma , Case-Control Studies , Cleft Palate/complications , Female , Fistula/epidemiology , Fistula/etiology , Humans , Infant , Male , Nose Diseases/epidemiology , Nose Diseases/etiology , Oral Fistula/epidemiology , Oral Fistula/etiology , Palate, Soft/surgery , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Treatment Outcome , Velopharyngeal Insufficiency/etiology , Velopharyngeal Insufficiency/surgery
8.
Am J Med Genet C Semin Med Genet ; 163C(4): 333-56, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24124024

ABSTRACT

Head morphogenesis is a complex process that is controlled by multiple signaling centers. The most common defects of cranial development are craniofacial defects, such as cleft lip and cleft palate, and neural tube defects, such as anencephaly and encephalocoele in humans. More than 400 genes that contribute to proper neural tube closure have been identified in experimental animals, but only very few causative gene mutations have been identified in humans, supporting the notion that environmental influences are critical. The intrauterine environment is influenced by maternal nutrition, and hence, maternal diet can modulate the risk for cranial and neural tube defects. This article reviews recent progress toward a better understanding of nutrients during pregnancy, with particular focus on mouse models for defective neural tube closure. At least four major patterns of nutrient responses are apparent, suggesting that multiple pathways are involved in the response, and likely in the underlying pathogenesis of the defects. Folic acid has been the most widely studied nutrient, and the diverse responses of the mouse models to folic acid supplementation indicate that folic acid is not universally beneficial, but that the effect is dependent on genetic configuration. If this is the case for other nutrients as well, efforts to prevent neural tube defects with nutritional supplementation may need to become more specifically targeted than previously appreciated. Mouse models are indispensable for a better understanding of nutrient-gene interactions in normal pregnancies, as well as in those affected by metabolic diseases, such as diabetes and obesity.


Subject(s)
Folic Acid/metabolism , Maternal Nutritional Physiological Phenomena , Morphogenesis , Neural Tube Defects/metabolism , Anencephaly/genetics , Anencephaly/metabolism , Anencephaly/physiopathology , Animals , Cleft Lip/genetics , Cleft Lip/metabolism , Cleft Lip/physiopathology , Cleft Palate/complications , Cleft Palate/genetics , Cleft Palate/mortality , Diabetes, Gestational/genetics , Diabetes, Gestational/metabolism , Diabetes, Gestational/physiopathology , Dietary Supplements , Disease Models, Animal , Female , Gene-Environment Interaction , Humans , Mice , Neural Tube Defects/physiopathology , Pregnancy
9.
Semin Speech Lang ; 32(2): 191-8, 2011 May.
Article in English | MEDLINE | ID: mdl-21948644

ABSTRACT

Individuals with a history of cleft lip/palate or velopharyngeal dysfunction may demonstrate any combination of speech sound errors, hypernasality, and nasal emission. Speech sound distortion can also occur due to other structural anomalies, including malocclusion. Whenever there are structural anomalies, speech can be affected by obligatory distortions or compensatory errors. Obligatory distortions (including hypernasality due to velopharyngeal insufficiency) are caused by abnormal structure and not by abnormal function. Therefore, surgery or other forms of physical management are needed for correction. In contrast, speech therapy is indicated for compensatory articulation productions where articulation placement is changed in response to the abnormal structure. Speech therapy is much more effective if it is done after normalization of the structure. When speech therapy is appropriate, the techniques involve methods to change articulation placement using standard articulation therapy principles. Oral-motor exercises, including the use of blowing and sucking, are never indicated to improve velopharyngeal function. The purpose of this article is to provide information regarding when speech therapy is appropriate for individuals with a history of cleft palate or other structural anomalies and when physical management is needed. In addition, some specific therapy techniques are offered for the elimination of common compensatory articulation productions.


Subject(s)
Cleft Palate/complications , Speech Disorders/therapy , Speech Therapy/methods , Velopharyngeal Insufficiency/complications , Articulation Disorders/etiology , Articulation Disorders/therapy , Biofeedback, Psychology/methods , Child , Goals , Humans , Phonetics , Sound Spectrography , Speech Acoustics , Speech Disorders/etiology , Speech Intelligibility , Voice Quality
10.
Birth Defects Res A Clin Mol Teratol ; 91(1): 50-60, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21254359

ABSTRACT

BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth defect. Periconceptional supplementation with folic acid, a key component in DNA synthesis and cell division, has reduced the birth prevalence of neural tube defects and may similarly reduce the birth prevalence of other complex birth defects including NSCLP. Past studies investigating the role of two common methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs), C677T (rs1801133) and A1298C (rs1801131), in NSCLP have produced conflicting results. Most studies of folate pathway genes have been limited in scope, as few genes/SNPs have been interrogated. Here, we asked whether variations in a more comprehensive group of folate pathway genes were associated with NSCLP, and were there detectable interactions between these genes and environmental exposures? METHODS: Fourteen folate metabolism-related genes were interrogated using 89 SNPs in multiplex and simplex non-Hispanic white and Hispanic NSCLP families. RESULTS: Evidence for a risk association between NSCLP and SNPs in NOS3 and TYMS was detected in the non-Hispanic white group, whereas associations with MTR, BHMT2, MTHFS, and SLC19A1 were detected in the Hispanic group. Evidence for over-transmission of haplotypes and gene interactions in the methionine arm was detected. CONCLUSIONS: These results suggest that perturbations of the genes in the folate pathway may contribute to NSCLP. There was evidence for an interaction between several SNPs and maternal smoking, and for one SNP with gender of the offspring. These results provide support for other studies that suggest that high maternal homocysteine levels may contribute to NSCLP and should be further investigated.


Subject(s)
Cleft Lip/complications , Cleft Palate/complications , Folic Acid/metabolism , Genes/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Betaine-Homocysteine S-Methyltransferase/genetics , Carbon-Nitrogen Ligases/genetics , Cleft Lip/ethnology , Cleft Lip/genetics , Cleft Palate/ethnology , Cleft Palate/genetics , Hispanic or Latino/genetics , Humans , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Nitric Oxide Synthase Type III/genetics , Reduced Folate Carrier Protein/genetics , Thymidylate Synthase/genetics , White People/genetics
11.
DNA Cell Biol ; 29(7): 375-80, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20408761

ABSTRACT

To identify the interactions among two loci (C641A and G15572-) of transforming growth factor beta 3 (TGFbeta3), and exposures in pregnancy with cleft lip with/without cleft palate (CL/P), a hospital-based case-control study was conducted. Associations among offspring polymorphisms of TGFbeta3 C641A and G15572-, paternal smoking, paternal high-risk drinking, maternal passive smoking, and maternal multivitamin supplement with CL/P were analyzed by logistic regression analysis, and the results showed that maternal passive smoking exposures and maternal multivitamin use were associated with the risk of CL/P but offspring polymorphisms of TGFbeta3 C641A and G15572-, paternal smoking, and paternal high-risk drinking were not. Interactions among these variables were analyzed using the multifactor dimensionality reduction method, and the results showed that the two-factor model, including maternal passive smoking and TGFbeta3 C641A, among all models evaluated had the best ability to predict CL/P risk with a maximum cross-validation consistency (9/10) and a maximum average testing accuracy (0.5892; p = 0.0010). These findings suggested that maternal passive smoking exposure is a risk factor for CL/P, whereas maternal multivitamin supplement is a protective factor. The polymorphism of TGFbeta3 C641A participates in interaction effect for CL/P with environmental exposures, although the polymorphism was not associated with CL/P in single-locus analysis, and synergistic effect of TGFbeta3 C641A and maternal passive smoking could provide a new tool for identifying high-risk individuals of CL/P and also an additional evidence that CL/P is determined by both genetic and environmental factors.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Environmental Exposure , Tobacco Smoke Pollution , Transforming Growth Factor beta3/genetics , Alcohol Drinking/genetics , Case-Control Studies , Cleft Lip/etiology , Cleft Palate/complications , Cleft Palate/etiology , Dietary Supplements , Environment , Female , Humans , Mutagenesis , Polymorphism, Genetic , Pregnancy , Risk Factors , Smoking/genetics , Vitamins/genetics
12.
J Med Assoc Thai ; 93 Suppl 4: S63-70, 2010 Oct.
Article in English | MEDLINE | ID: mdl-21299052

ABSTRACT

OBJECTIVE: To propose a community-based network system and interdisciplinary management for children with cleft lip/ palate, applicable to Thailand and other developing countries. MATERIAL AND METHOD: A network was developed for the care of patients with cleft lip/palate by combining primary health care, community-based rehabilitation and institutional expertise (Tawanchai Center), Five workshops were conducted, including: 1) network development for cleft lip-palate care in the new millennium; 2) a multi-center study on the incidence and etiology of oral clefts and associated abnormalities in Northeast Thailand; 3) establishment of a Network for Children with Cleft Lip/Palate care in Northeast Thailand, including: 3.1) Skill development in cleft lip/palate care for parents and family; 3.2) a community-based model for speech disorders for children with cleft lip/palate in developing countries and for holistic nursing care for children with cleft lip/palate in developing countries; and, 4) development of interdisciplinary team system and network for holistic care for community-based quality of life, health promotion, speech and language intervention for Thai cleft lip/palate. RESULTS: A community-based network system model with interdisciplinary care was developed. CONCLUSION: A community-based network system model with interdisciplinary care can be applied for children with cleft lip/ palate in Thailand and developing countries where there exists a lack of coordinated multidisciplinary services. We plan to implement such a system in the near future.


Subject(s)
Cleft Lip/therapy , Cleft Palate/therapy , Community Networks/organization & administration , Child , Cleft Lip/complications , Cleft Lip/rehabilitation , Cleft Palate/complications , Cleft Palate/rehabilitation , Community Networks/trends , Health Services Research , Humans , Inservice Training , Models, Organizational , Patient Care Team , Primary Health Care/organization & administration , Program Development , Thailand
13.
Pediatr Res ; 66(5): 501-6, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19668105

ABSTRACT

Evidence exists for an association between use of vitamin supplements with folic acid in early pregnancy and reduced risk for offspring with cleft lip with/without cleft palate (CLP). A few observations have been made about nutrients related to one-carbon metabolism other than folate. Our prospective study attempted to extend information on nutrition and CLP by measuring nutrient analytes in mid-pregnancy sera. This study included data from a repository of women's mid-pregnancy serum specimens collected in California from 2003-04. Each woman's specimen was linked with delivery information to determine whether her fetus had CLP or another structural malformation, or was nonmalformed. We identified 89 CLP cases. We randomly selected 409 specimens as controls. Specimens were tested for homocysteine, methylmalonic acid, folate, vitamin B12, pyridoxal phosphate, pyridoxal, pyridoxic acid, riboflavin, choline, betaine, methionine, methionine sulfoxide, cysteine, cystathionine, arginine, and asymmetric and symmetric dimethylarginine. We observed three analytes with odds ratios unlikely to be explained by random variation, i.e., elevated CLP risks were observed for low levels and for high levels of pyridoxal phosphate (vitamin B6), higher levels of choline, and low levels of symmetric dimethylarginine. These data did not show meaningful differences between cases and controls for any other analytes.


Subject(s)
Carbon/metabolism , Cleft Lip/metabolism , Cleft Palate/metabolism , Adult , Arginine/analogs & derivatives , Arginine/metabolism , Case-Control Studies , Cleft Lip/complications , Cleft Palate/complications , Dietary Supplements , Female , Folic Acid/metabolism , Humans , Maternal Age , Nutritional Sciences , Odds Ratio , Pregnancy , Vitamins/therapeutic use
14.
J Child Neurol ; 23(1): 118-20, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18079312

ABSTRACT

Holoprosencephaly is a developmental defect caused by incomplete cleavage of the embryonic forebrain structures during early embryogenesis. We describe a 3-month-old boy with median cleft palate, surgically reconstructed cleft lip, hypotelorism with a flat nose, cryptorchidism, clubfoot, and microcephaly. During the laboratory investigation, his blood sodium level was 154 mmol/L and urine specific gravity was 1.007. Serum osmolarity was 317 mOsm/kg and urine osmolarity was 268 mOsm/kg. Given these findings and the clinical response to vasopressin, diagnosis of central diabetes insipidus was made. Magnetic resonance imaging revealed semilobar holoprosencephaly. The patient responded very well to vasopressin treatment with restoration of serum electrolytes, which remained within normal limits on follow-up. In case of midline facial defects accompanied by hypotelorism with or without developmental delay, the brain should be imaged to confirm its morphology and investigations should be directed by a high index of suspicion of associated endocrinologic dysfunctions.


Subject(s)
Diabetes Insipidus/diagnosis , Diabetes Insipidus/etiology , Holoprosencephaly/complications , Holoprosencephaly/diagnosis , Hypothalamus/abnormalities , Brain/abnormalities , Brain/physiopathology , Cleft Palate/complications , Clubfoot/complications , Comorbidity , Diabetes Insipidus/physiopathology , Diagnosis, Differential , Eye Abnormalities/complications , Holoprosencephaly/physiopathology , Humans , Hypothalamus/physiopathology , Infant , Magnetic Resonance Imaging , Male , Microcephaly/complications , Osmolar Concentration , Vasopressins/therapeutic use
15.
J Indian Soc Pedod Prev Dent ; 24(3): 136-9, 2006 Sep.
Article in English | MEDLINE | ID: mdl-17065780

ABSTRACT

Midfacial deficiency is a common feature of cleft lip and palate patients due to scar tissue of the lip and palate closure procedure. The aim of this study was to evaluate the effectiveness of the physiological force of the tongue to move the maxilla in forward position. This research has been done experimentally by, before and after treatment following up in private practice. Ten patients (6 female, 4 male) with complete bilateral cleft lip and palate were selected. All of them had Cl III malocclusion with maxillary deficiency due to scar tissue of lip and palate surgery. Their age ranged from 7.6 to 9.8 years. All the patients were delivered tongue appliance to transfer the force of the tongue to maxillary complex. The mean observation time was 13+/-2 months to achieve positive overjet. Pre- and post-lateral cephalograms were compared to evaluate the skeletal changes with paired t-test. The results showed that after the application of tongue appliance, normal sagittal maxillomandibular relationship was achieved. SN-ANS angle was increased 1.9+/-1.8 - P < 0.03. This study showed that the tongue appliance could transfer considerable force during rest and swallowing period to the maxilla. This method might be considered to improve the deficient maxilla by means of growth modification and redirect concept.


Subject(s)
Cleft Lip/complications , Cleft Palate/complications , Maxilla/growth & development , Myofunctional Therapy/instrumentation , Orthodontic Appliances, Functional , Retrognathia/therapy , Tongue/physiology , Cephalometry , Child , Cicatrix/complications , Cicatrix/etiology , Cleft Lip/surgery , Cleft Palate/surgery , Female , Humans , Male , Malocclusion, Angle Class III/etiology , Malocclusion, Angle Class III/therapy , Oral Surgical Procedures/adverse effects , Retrognathia/etiology
16.
World J Orthod ; 7(3): 293-8, 2006.
Article in English | MEDLINE | ID: mdl-17009480

ABSTRACT

This case report presents one of the initial participants of a new treatment protocol started in 1965 for children born with complete clefts of the lip, alveolus, and palate at Children's Memorial Hospital, Chicago, USA. The surgeon and orthodontist worked together and in tandem from the time of the patient's birth. The protocol involves lip and palate closure, along with the placement of a passive maxillary prosthesis and minimal primary osteoplasty to the alveolus to help stabilize the maxillary segments. This case is noteworthy in that the patient had a number of congenitally missing teeth, and treatment required moving a tooth into and through an area originally cleft. The patient is now 40 years of age. Intra- and extraoral photographs, cephalometric radiographs, occlusal dental radiographs, and dental casts through the treatment stages are presented.


Subject(s)
Cleft Lip/surgery , Cleft Palate/surgery , Oral Surgical Procedures/methods , Orthodontics, Corrective/methods , Alveolar Process/abnormalities , Alveolar Process/surgery , Alveoloplasty , Bone Transplantation , Cephalometry , Cleft Lip/complications , Cleft Palate/complications , Clinical Protocols , Female , Follow-Up Studies , Humans , Infant, Newborn , Malocclusion, Angle Class II/complications , Malocclusion, Angle Class II/therapy , Myofunctional Therapy/instrumentation , Patient Care Team , Plastic Surgery Procedures/methods
17.
Paediatr Perinat Epidemiol ; 17(3): 264-71, 2003 Jul.
Article in English | MEDLINE | ID: mdl-12839538

ABSTRACT

Studies of socio-economic status (SES) have figured prominently in research related to a variety of health outcomes, although the question remains as to whether SES contributes to the aetiologies of congenital anomalies. This study examines the association of SES with risks of conotruncal heart defects and orofacial clefts, using interview data from 696 case mothers (86% of eligible) and 734 (78%) control mothers from a population-based case-control study. Socio-economic measures from maternal interview included mother's education and employment. Reported addresses were linked with the US census to characterise six measures of neighbourhood SES (education, poverty, unemployment, occupation, crowding and rental occupancy). Results were adjusted for race-ethnicity, multivitamin/mineral supplement intake, cigarette smoking and binge drinking. Results for individual and neighbourhood measures suggested that low SES was associated with increased risk of d-transposition of the great arteries (dTGA), reduced risk of tetralogy of Fallot (TOF), but was not associated with risk of orofacial clefts. For example, when examining odds ratios (OR) that compared risks among women whose neighbourhoods were in the lowest vs. highest quartile of the census-based SES measures, ORs for five of the six measures were> 1.4 for dTGA, and ORs for all six measures were < 0.7 for TOF. ORs for clefts tended to be closer to 1. This study suggests that SES risks are birth defect specific.


Subject(s)
Cleft Lip/epidemiology , Cleft Palate/epidemiology , Heart Defects, Congenital/epidemiology , Mothers/statistics & numerical data , Adult , California/epidemiology , Cleft Lip/complications , Cleft Palate/complications , Female , Heart Defects, Congenital/complications , Humans , Odds Ratio , Poverty , Residence Characteristics , Risk Factors , Socioeconomic Factors , Unemployment/statistics & numerical data
18.
Am J Epidemiol ; 157(7): 583-91, 2003 Apr 01.
Article in English | MEDLINE | ID: mdl-12672677

ABSTRACT

Periconceptional folic acid supplementation may reduce the risk of cleft lip with or without cleft palate (CL(P)). Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene reduce availability of 5-methyltetrahydrofolate, the predominant circulating form of folate. To determine the effect of MTHFR C677T and MTHFR A1298C genotypes and haplotypes on CL(P) risk and the interaction with maternal periconceptional dietary folate and folic acid supplement intake, the authors conducted a case-control triad study in the Netherlands (1998-2000) among 179 CL(P) and 204 control families. Infant and parental MTHFR C677T and MTHFR A1298C genotypes and haplotypes were not associated with CL(P) risk in the case-control and transmission disequilibrium test analyses. Mothers carrying the MTHFR 677TT genotype and who either did not use folic acid supplements periconceptionally or had a low dietary folate intake, or both, had an increased risk of delivering a CL(P) child (odds ratio (OR) = 5.9, 95% confidence interval (CI): 1.1, 30.9; OR = 2.8, 95% CI: 0.7, 10.5; OR = 10.0, 95% CI: 1.3, 79.1, respectively). No supplement use, low dietary folate intake, and maternal MTHFR 1298CC genotype increased the risk of CL(P) offspring almost sevenfold (OR = 6.5, 95% CI: 1.4, 30.2). Thus, the detrimental effect of low periconceptional folate intake on the risk of giving birth to a CL(P) child was more pronounced in mothers with the MTHFR 677TT or MTHFR 1298CC genotype.


Subject(s)
Cleft Lip , Cleft Palate , Folic Acid , Maternal Nutritional Physiological Phenomena , Oxidoreductases Acting on CH-NH Group Donors/genetics , Polymorphism, Genetic , Case-Control Studies , Cleft Lip/complications , Cleft Lip/genetics , Cleft Lip/prevention & control , Cleft Palate/complications , Cleft Palate/genetics , Cleft Palate/prevention & control , Confidence Intervals , Female , Folic Acid/administration & dosage , Folic Acid/genetics , Folic Acid/therapeutic use , Genotype , Humans , Infant, Newborn , Male , Methylenetetrahydrofolate Reductase (NADPH2) , Oxidoreductases Acting on CH-NH Group Donors/deficiency , Pregnancy
19.
Int Dent J ; 51(2): 73-6, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11569666

ABSTRACT

AIM: To investigate caries experience and initial access to dental services in a group of children with cleft lip/palate in the west of Ireland. DESIGN AND METHOD: Cross sectional study with prospective data capture and matched control. Details of children born with a cleft were obtained from all health professionals likely to be involved in delivering care to these children. Existing databases were cross-referenced to eliminate duplication or missed patients. A matched control sample was recruited from 14 schools in the region. RESULTS: A sample of 90 cleft affected children (48 male, 42 female) with any category of cleft born between 1980-1996 (i.e. 16 years) was compared with a control group of 100 non cleft children (60 male, 40 female). The DMF index was determined by a trained and calibrated clinician. Twenty-two percent (n=20) of the cleft group were caries free compared to 41% (n=41) in the control group. The combined dmf/DMF for the cleft group was 2.09 compared to 1.50 for the control (P<0.05). Separate analysis of the dmf and DMF between the two groups indicated that the difference lay in the caries found in the deciduous dentition of the cleft group. The first dental visit was at 4 years of age for the cleft group. CONCLUSIONS: Cleft affected children in the region did not receive adequate and regular dental care at the appropriate time. In view of the significantly greater risk of dental disease in clefting, particularly in the deciduous dentition, all cleft affected children should be referred for comprehensive and continued preventive dental care from the first year of life.


Subject(s)
Cleft Lip/complications , Cleft Palate/complications , DMF Index , Adolescent , Age Factors , Case-Control Studies , Child , Child, Preschool , Comprehensive Dental Care , Cross-Sectional Studies , Databases as Topic , Dental Care for Children , Dental Caries/complications , Female , Health Services Accessibility , Humans , Infant , Ireland , Male , Prospective Studies , Reproducibility of Results , Risk Factors , Statistics as Topic , Tooth, Deciduous/pathology
20.
J Clin Dent ; 11(4): 104-6, 2000.
Article in English | MEDLINE | ID: mdl-11460274

ABSTRACT

Children with cleft lip and/or palate are at a higher risk for developing caries of the primary incisors compared with non-cleft children. To determine whether fluoride in tablet or liquid form would be more efficacious with children with cleft lip and/or palate, a two-year clinical investigation was conducted to test the anti-caries effects. One-hundred and fifteen cleft children (59 boys and 56 girls) between 22 and 26 months old were randomly selected into control, tablet and liquid fluoride groups. The amount of administered fluoride was 0.25 mg F daily in non-fluoridated Taiwan. Dental examinations were conducted using mirrors and #23 explorers. Caries were assessed using the DMF index in the baseline, first year and second year. The results showed that children in the tablet and liquid groups had a significantly lower DMFT increment than in the control group (p < 0.05). In the DMFS index, children in the liquid group showed a significantly lower caries increment than in the control group (p < 0.01), and children in the tablet group presented a borderline, but non-significant statistical difference when compared with the control group (p = 0.065). No significant statistical difference was found in either DMFT or DMFS between tablet and liquid fluoride administrations (p = 0.521 and p = 0.383, respectively). It is concluded that dietary fluoride supplements in liquid form show efficacy in reducing early childhood caries in the cleft children. Liquid fluoride showed slightly better numerical anti-caries effect than tablet fluoride, which is possibly due to its ease of administration with small children.


Subject(s)
Cariostatic Agents/administration & dosage , Cleft Lip/complications , Cleft Palate/complications , Dental Caries/prevention & control , Fluorides/administration & dosage , Analysis of Variance , Child, Preschool , DMF Index , Dental Caries/complications , Dietary Supplements , Female , Humans , Infant , Male , Pharmaceutical Vehicles , Solutions , Statistics, Nonparametric , Tablets
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