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1.
J Oral Rehabil ; 51(7): 1202-1206, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38571379

RESUMEN

BACKGROUND: Tracheal intubation sometimes causes postoperative sore throat (POST) due to laryngeal damage. However, clinical observations suggest that the environment of the oral cavity may also affect POST. OBJECTIVE: The purpose of this study was to investigate whether salivary pH in the oral cavity affects POST. METHODS: After obtaining ethical approval, informed consent was obtained from all patients. Patients who underwent surgery in the supine position were enrolled as the control group. Patients who underwent laparoscopic surgery in the head-down position were enrolled as the intervention group. Immediately before both groups of patients were anaesthetised, expelled saliva was collected, and salivary pH was measured. Immediately postoperatively, the same measurement was carried out before the patient regained consciousness. The primary outcome was the change in salivary pH. The secondary outcome was POST. In our study, POST was defined as pharyngeal and swallowing pain in the glossopharyngeal and superior laryngeal nerves. The normal distribution of pH was tested using the Shapiro-Wilk test followed by analysis using repeated-measurements and one-way analysis of variance. Statistical significance was set at p < .05. RESULTS: A total of 62 patients were enrolled, of whom two were excluded based on the exclusion criteria. Salivary pH in the intervention group was significantly lower than that in the control group. Five patients had POST in the intervention group, whereas none had POST in the control group had POST. CONCLUSION: Acidotic-shifted saliva is considered one of the causes of POST.


Asunto(s)
Anestesia General , Faringitis , Complicaciones Posoperatorias , Saliva , Humanos , Faringitis/etiología , Concentración de Iones de Hidrógeno , Femenino , Anestesia General/efectos adversos , Masculino , Saliva/química , Adulto , Persona de Mediana Edad , Inclinación de Cabeza/efectos adversos , Intubación Intratraqueal/efectos adversos
2.
Hum Mol Genet ; 29(5): 845-858, 2020 03 27.
Artículo en Inglés | MEDLINE | ID: mdl-31943082

RESUMEN

SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P). These mutations cluster in the second coiled-coil and calponin homology domains of SPECC1L and severely affect the ability of SPECC1L to associate with microtubules. We previously showed that gene-trap knockout of Specc1l in mouse results in early embryonic lethality. We now present a truncation mutant mouse allele, Specc1lΔC510, that results in perinatal lethality. Specc1lΔC510/ΔC510 homozygotes showed abnormal palate rugae but did not show cleft palate. However, when crossed with a gene-trap allele, Specc1lcGT/ΔC510 compound heterozygotes showed a palate elevation delay with incompletely penetrant cleft palate. Specc1lcGT/ΔC510 embryos exhibit transient oral epithelial adhesions at E13.5, which may delay shelf elevation. Consistent with oral adhesions, we show periderm layer abnormalities, including ectopic apical expression of adherens junction markers, similar to Irf6 hypomorphic mutants and Arhgap29 heterozygotes. Indeed, SPECC1L expression is drastically reduced in Irf6 mutant palatal shelves. Finally, we wanted to determine if SPECC1L deficiency also contributed to non-syndromic (ns) CL/P. We sequenced 62 Caucasian, 89 Filipino, 90 Ethiopian, 90 Nigerian and 95 Japanese patients with nsCL/P and identified three rare coding variants (p.Ala86Thr, p.Met91Iso and p.Arg546Gln) in six individuals. These variants reside outside of SPECC1L coiled-coil domains and result in milder functional defects than variants associated with syndromic clefting. Together, our data indicate that palate elevation is sensitive to deficiency of SPECC1L dosage and function and that SPECC1L cytoskeletal protein functions downstream of IRF6 in palatogenesis.


Asunto(s)
Fisura del Paladar/patología , Factores Reguladores del Interferón/metabolismo , Mutación , Fosfoproteínas/fisiología , Animales , Fisura del Paladar/genética , Fisura del Paladar/metabolismo , Femenino , Humanos , Factores Reguladores del Interferón/genética , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Fosfoproteínas/genética , Fosfoproteínas/metabolismo
3.
BMC Palliat Care ; 21(1): 137, 2022 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-35907806

RESUMEN

BACKGROUND: Although end-of-life patients have a variety of oral-related symptoms, the involvement of dentists and dental hygienists in the palliative care teams is limited. This study investigates the current state of palliative care education in universities that train dentists and dental hygienists and the need for dentistry in the clinical setting of palliative medicine in Japan. METHODS: First, we investigated the involvement of dentistry in hospitals with palliative care units from a website. The number of reports on palliative care presented by dental hygienists at academic conferences around 2016, when the public medical insurance system in Japan covered oral care for patients with terminal illnesses, were examined. We also surveyed the syllabuses of the university that trained nurses, dentists, and dental hygienists to determine their education regarding palliative care. RESULTS: Of the 376 hospitals with palliative care units, 176 (46.8%) had dentistry in the hospital. Additionally, 321 hospitals (85.4%), which included those without dentistry, responded that they provided oral care by dentists and dental hygienists in the palliative care unit. There were only two presentations on palliative care in the annual meetings of the two major academic societies by dental hygienists between 2012 and 2016. However, this number increased rapidly to 47 between 2017 and 2020. The syllabus surveys showed that, compared to nursing universities, universities that trained dentists or dental hygienists had lesser education in palliative care. Furthermore, education in the universities that trained dental hygienists was mostly related to the oral care of patients with terminal illnesses, while the physical and mental conditions of end-of-life patients were not well educated. CONCLUSION: Considering that society requires the involvement of dental hygienists in the field of palliative care, it is necessary to enhance basic and clinical education of palliative care in universities that train dentists and dental hygienists to provide good oral care to patients with terminal illnesses and contribute to improving their quality of life.


Asunto(s)
Cuidados Paliativos , Calidad de Vida , Muerte , Higienistas Dentales , Hospitales , Humanos , Encuestas y Cuestionarios , Universidades
4.
Int J Mol Sci ; 23(4)2022 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-35216185

RESUMEN

Rupture of the basement membrane in fused palate tissue can cause the palate to separate after fusion in mice, leading to the development of cleft palate. Here, we further elucidate the mechanism of palatal separation after palatal fusion in 8-10-week-old ICR female mice. On day 12 of gestation, 40 µg/kg of 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD), sufficient to cause cleft palate in 100% of mice, was dissolved in 0.4 mL of olive oil containing toluene and administered as a single dose via a gastric tube. Fetal palatine frontal sections were observed by H&E staining, and epithelial cell adhesion factors, apoptosis, and cell proliferation were observed from the anterior to posterior palate. TUNEL-positive cells and Ki67-positive cells were observed around the posterior palatal dissection area of the TCDD-treated group. Moreover, in fetal mice exposed to TCDD, some fetuses exhibited cleft palate dehiscence during fusion. The results suggest that palatal dehiscence may be caused by abnormal cell proliferation in epithelial tissues, decreased intercellular adhesion, and inhibition of mesenchymal cell proliferation. By elucidating the mechanism of cleavage after palatal fusion, this research can contribute to establishing methods for the prevention of cleft palate development.


Asunto(s)
Fisura del Paladar/inducido químicamente , Fisura del Paladar/metabolismo , Hueso Paladar/efectos de los fármacos , Hueso Paladar/metabolismo , Dibenzodioxinas Policloradas/efectos adversos , Animales , Apoptosis/efectos de los fármacos , Membrana Basal/efectos de los fármacos , Membrana Basal/metabolismo , Membrana Basal/patología , Proliferación Celular/efectos de los fármacos , Fisura del Paladar/patología , Epitelio/efectos de los fármacos , Epitelio/metabolismo , Epitelio/patología , Femenino , Etiquetado Corte-Fin in Situ/métodos , Masculino , Ratones , Ratones Endogámicos ICR , Hueso Paladar/patología
5.
Am J Med Genet A ; 176(12): 2614-2622, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30575289

RESUMEN

Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is characterized by alterations of SATB2. Its clinical features include intellectual disability and craniofacial abnormalities, such as cleft palate, dysmorphic features, and dental abnormalities. Here, we describe three previously undiagnosed, unrelated patients with SAS who exhibited dental abnormalities, including multiple odontomas. Although isolated odontomas are common, multiple odontomas are rare. Individuals in families 1 and 3 underwent whole-exome sequencing. Patient 2 and parents underwent targeted amplicon sequencing. On the basis of the hg19/GRCh37 reference and the RefSeq mRNA NM_001172517, respective heterozygous mutations were found and validated in Patients 1, 2, and 3: a splice-site mutation (chr2:g.200137396C > T, c.1741-1G > A), a nonsense mutation (chr2:g.200213750G > A, c.847C > T, p.R283*), and a frame-shift mutations (chr2:g.200188589_200188590del, c.1478_1479del, p.Q493Rfs*19). All mutations occurred de novo. The mutations in Patients 1 and 3 were novel; the mutation in Patient 2 has been described previously. Tooth mesenchymal cells derived from Patient 2 showed diminished SATB2 expression. Multiple odontomas were evident in the patients in this report; however, this has not been recognized previously as a SAS-associated phenotype. We propose that multiple odontomas be considered as an occasional manifestation of SAS.


Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Odontoma/diagnóstico , Odontoma/genética , Fenotipo , Factores de Transcripción/genética , Adolescente , Alelos , Análisis Mutacional de ADN , Exones , Femenino , Genotipo , Humanos , Masculino , Mutación , Linaje , Síndrome , Secuenciación del Exoma , Adulto Joven
6.
Am J Med Genet A ; 167A(5): 1054-1060, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25786657

RESUMEN

Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3,436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs that represented the most significant P-value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1), and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200 kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with nonsyndromic cleft lip with cleft palate (NSCLP) in Europeans (P-value = 4 × 10(-5), ORtransmission = 1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations.


Asunto(s)
Cromosomas Humanos Par 13/genética , Labio Leporino/genética , Fisura del Paladar/genética , Predisposición Genética a la Enfermedad , Pueblo Asiatico/genética , Labio Leporino/fisiopatología , Fisura del Paladar/fisiopatología , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Linaje , Polimorfismo de Nucleótido Simple , Riesgo , Población Blanca/genética
7.
Nat Genet ; 38(3): 324-30, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16444273

RESUMEN

Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G --> A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. The allele A frequency shows a north-south and east-west downward geographical gradient; worldwide, it is highest in Chinese and Koreans, and a common dry-type haplotype is retained among various ethnic populations. These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Cerumen/fisiología , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , Mapeo Cromosómico , Frecuencia de los Genes , Marcadores Genéticos , Genotipo , Humanos , Datos de Secuencia Molecular , Polimorfismo Genético , Grupos Raciales/genética
8.
Cureus ; 16(6): e63002, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38915834

RESUMEN

Patients undergoing palliative care often develop debilitating oral conditions, including xerostomia. These conditions may significantly impact patients' quality of life. Despite the high prevalence and adverse impact of xerostomia, effective management strategies remain unclear. This scoping review was performed to elucidate effective interventions for xerostomia in patients undergoing palliative and end-of-life care. A comprehensive search strategy was employed to identify relevant studies up to August 2023. Full-text primary articles focusing on xerostomia in patients receiving palliative care were included in the review. Eleven articles were selected for analysis, and data were extracted by six reviewers. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Among the 11 studies, interventions ranged from oral care to saliva substitutes and methods to stimulate saliva secretion. The primary method of assessing xerostomia was the performance of subjective evaluations using visual analog scale scores or numerical rating scale scores. Various interventions including oral care regimens, topical treatments, and mixed efficacy outcomes were reported. Notably, only one study directly measured the saliva volume, highlighting a reliance on subjective endpoints in most studies. Although no definitive conclusions can be drawn regarding the most effective intervention, oral care was a preferred option for managing xerostomia in patients undergoing palliative care. Additionally, adjunctive treatments such as ice cubes, saline, and moisturizers showed promise but require further investigation. Objective measures should be incorporated into future intervention trials to complement subjective assessments and provide a comprehensive evaluation of xerostomia management strategies in this patient population.

9.
Congenit Anom (Kyoto) ; 64(2): 40-46, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38308585

RESUMEN

The frequency of cleft lip with/without palate (CL/P) in the Mongolian population is approximately 1 in 1314 live births. This research aims to disseminate information about this congenital disability to the public to better understand CL/P, and people's fissures, and review administrative measures, as there is a lack of research in this area. A questionnaire survey was conducted using Google Forms, with 1000 Mongolian participants. Most participants (86.7%) said they had knowledge of the word, whereas 86.2% said they had knowledge of the condition. Most participants' answers were question-related disadvantages of CL/P patients, including statements such as "It's uncomfortable in human relationships" and "It makes an uncomfortable impression on the person you meet the first time." The results of this study revealed that most Mongolians were aware of CL/P and are concerned about patients. However, the causes of CL/P in the general population remain unknown, and further research is needed in this area.


Asunto(s)
Labio Leporino , Fisura del Paladar , Femenino , Humanos , Labio Leporino/diagnóstico , Labio Leporino/epidemiología , Fisura del Paladar/diagnóstico , Fisura del Paladar/epidemiología , Mongolia/epidemiología , Encuestas y Cuestionarios
10.
Hum Mutat ; 34(8): 1075-9, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23674478

RESUMEN

We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles and detected a mutation in the extracellular matrix (ECM) protein-encoding gene NID1. In a second family, protein interaction network analysis identified a mutation in LAMC1, which encodes a NID1-binding partner. Structural modeling of the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the ECM in the pathogenesis of Dandy-Walker spectrum disorders.


Asunto(s)
Síndrome de Dandy-Walker/genética , Encefalocele/genética , Laminina/genética , Glicoproteínas de Membrana/genética , Mutación , Exoma , Matriz Extracelular/genética , Humanos , Laminina/química , Laminina/metabolismo , Glicoproteínas de Membrana/química , Glicoproteínas de Membrana/metabolismo , Estructura Terciaria de Proteína , Análisis de Secuencia de ADN
11.
Am J Med Genet A ; 161A(5): 965-72, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23463464

RESUMEN

Following recent genome wide association studies (GWAS), significant genetic associations have been identified for several genes with nonsyndromic cleft lip with or without cleft palate (CL(P)). To replicate two of these GWAS signals, we investigated the role of common and rare variants in the PAX7 and VAX1 genes. TaqMan genotyping was carried out for SNPs in VAX1 and PAX7 and transmission disequilibrium test (TDT) was performed to test for linkage and association in each population. Direct sequencing in and around the PAX7 and VAX1 genes in 1,326 individuals of European and Asian ancestry was done. The TDT analysis showed strong associations with markers in VAX1 (rs7078160, P = 2.7E-06 and rs475202, P = 0.0002) in a combined sample of Mongolian and Japanese CL(P) case-parent triads. Analyses using parent-of-origin effects showed significant excess transmission of the minor allele from both parents with the effect in the mothers (P = 6.5E-05, OR (transmission) = 1.91) more striking than in the fathers (P = 0.004, OR (transmission) = 1.67) for VAX1 marker rs7078160 in the combined Mongolian and Japanese samples when all cleft types were combined. The rs6659735 trinucleotide marker in PAX7 was significantly associated with all the US cleft groups combined (P = 0.007 in all clefts and P = 0.02 in CL(P)). Eight rare missense mutations found in PAX7 and two rare missense mutations in VAX1. Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P). Determining the role of rare variants clearly warrants further investigation.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Proteínas de Homeodominio/genética , Factor de Transcripción PAX7/genética , Factores de Transcripción/genética , Adulto , Pueblo Asiatico , Femenino , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Mutación , Análisis de Secuencia de ADN , Estados Unidos
12.
Congenit Anom (Kyoto) ; 63(6): 206-210, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37749073

RESUMEN

Since telepractice regulation does not yet exist in Japan, we assessed telepractice efficacy and the level of satisfaction with telepractice versus that with face-to-face practice (FTFP) in speech therapy to establish effective telepractice in Japan. Changes in the number of therapy sessions and therapy levels were compared between telepractice and FTFP sessions conducted during the study period. Additionally, the patients' parents completed a questionnaire survey regarding telepractice. The mean number of sessions was not significantly different between the two types of therapy; the therapy levels, according to stepwise speech therapy, either increased or remained unchanged. The survey showed satisfaction with telepractice among all parents. Telepractice for cleft palate speech was delivered successfully with complete parental satisfaction.


Asunto(s)
COVID-19 , Telemedicina , Humanos , COVID-19/epidemiología , Pandemias , Trastornos del Habla/terapia , Logopedia
13.
Healthcare (Basel) ; 11(16)2023 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-37628487

RESUMEN

BACKGROUND: We believe that parental presence before the induction of anesthesia for surgery among children with a cleft palate/lip would be effective in mitigating their preoperative anxiety. OBJECTIVE: We assessed the states of patients with a cleft palate/lip when their parents accompanied them into operating rooms and clarified their and their parents' cognition using a questionnaire. METHODS: Data were collected via nursing observation when patients and their parents entered the operating room. Furthermore, an anonymous questionnaire was administered to patients and parents after the operation regarding their feelings about parental presence in the operating room. RESULTS: In total, nine patients cried when they entered the surgical room. Furthermore, six patients and three parents reported preoperative anxiety. In addition, eight patients agreed that they were satisfied with the presence of their parents before induction. CONCLUSION: Approximately half of the patients cried. However, the presence of parents before the induction of anesthesia was effective in reducing anxiety among most patients and their parents.

14.
Congenit Anom (Kyoto) ; 63(5): 141-146, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37269175

RESUMEN

Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of  crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly divided into six experimental groups. Five of these groups consumed a drink containing crude drug licorice root extract, with the following weights attributed to each group: 3 g in group I, 6 g in group II, 7.5 g in group III, 9 g in group IV, and 12 g in group V, whereas a control group consumed tap water. The effect of licorice extract was examined for fetal mortality and fetal orofacial cleft development compared to the control group. The rates for fetal mortality were 11.28%, 7.41%, 9.18%, 4.94%, and 7.90% in groups I, II, III, IV, and V, respectively, compared to 13.51% in the control group. There were no significant differences in the mean weight of alive fetuses in all five groups compared to the control group (0.63 ± 0.12). Group IV showed the lowest orafacial cleft occurrence of 3.20% (8 fetuses) with statistical significance (p = 0.0048) out of 268 live fetuses, whereas the control group had the occurrence of 8.75% (42 fetuses) among 480 live fetuses. Our study showed that the dried licorice root extract may reduce orofacial birth defects in experimental animal studies.


Asunto(s)
Labio Leporino , Fisura del Paladar , Glycyrrhiza , Humanos , Ratones , Animales , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología
15.
Genes (Basel) ; 14(11)2023 Oct 25.
Artículo en Inglés | MEDLINE | ID: mdl-38002937

RESUMEN

This study aims to identify potential variants in the TP63-IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case-parent trios and 527 control samples, we conducted a stratified analysis based on different NSOFC phenotypes, using allelic, dominant, recessive and over-dominant models for case-control analyses, and family-based association tests for case-parent trios. Haplotype and linkage disequilibrium analyses were also conducted. IRF6 rs2235375 showed a significant association with an increased risk for non-syndromic cleft lip and palate (NSCLP) and cleft lip with or without cleft palate (NSCL/P) in the G allele, with pallele values of 0.0018 and 0.0003, respectively. Due to the recessive model (p = 0.0011) for the NSCL/P group, the reduced frequency of the GG genotype of rs2235375 was associated with a protective effect against NSCL/P. Additionally, offspring who inherited the G allele at rs2235375 had a 1.34-fold increased risk of NSCL/P compared to the C allele holders. IRF6 rs846810 and a G-G haplotype at rs2235375-rs846810 of IRF6 impacted NSCL/P, with p-values of 0.0015 and 0.0003, respectively. In conclusion, our study provided additional evidence for the association of IRF6 rs2235375 with NSCLP and NSCL/P. We also identified IRF6 rs846810 as a novel marker associated with NSCL/P, and haplotypes G-G and C-A at rs2235375-rs846810 of IRF6 associated with NSOFC.


Asunto(s)
Labio Leporino , Fisura del Paladar , Humanos , Labio Leporino/epidemiología , Labio Leporino/genética , Fisura del Paladar/genética , Pueblos del Sudeste Asiático , Polimorfismo de Nucleótido Simple , Factores Reguladores del Interferón/genética , Fenotipo , Estudios de Casos y Controles , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genética , Péptidos y Proteínas de Señalización Intercelular/genética
16.
Am J Hum Genet ; 84(3): 406-11, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19249007

RESUMEN

Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a role for BMP4 in wound healing.


Asunto(s)
Proteína Morfogenética Ósea 4/genética , Labio Leporino/genética , Fisura del Paladar/genética , Secuencia de Aminoácidos , Proteína Morfogenética Ósea 4/fisiología , Niño , Preescolar , Codón sin Sentido , Humanos , Datos de Secuencia Molecular , Mutación Missense
17.
Biosci Trends ; 16(1): 7-19, 2022 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-35185082

RESUMEN

Oral care is defined in a narrow sense as cleaning of the teeth, oral cavity, and dentures, and in a broad sense as the maintenance of oral functions (feeding, swallowing, chewing, speech, aesthetics, etc.), dental treatment, feeding and swallowing training, and articulation training. In the past, it was recognized as simply cleaning the mouth, but the concept of oral care has gradually expanded, and many studies and surveys have been conducted in cooperation with various other professions. As a result, oral health care is involved not only in the prevention of pneumonia, but also in the onset and suppression for severity of diabetes, cardiovascular diseases, some malignant tumors, cerebrovascular diseases, rheumatoid arthritis, dementia, etc. It is also a powerful supportive therapy in cancer treatment. In the terminal stages of life, oral health care can help people to maintain their dignity by continuing to consume food orally until the end of their lives, and in times of disaster, oral health care has been found to be as important as attention to deep vein thrombosis. It has also been found to be effective in preventing severe diseases such as COVID-19. And, although it has not been discussed much, it has been found to have medical and economic benefits such as reducing the duration of hospitalization and treatment costs. This article reviews the results of research to date.


Asunto(s)
COVID-19 , Humanos , Salud Bucal , SARS-CoV-2 , Sociedades , Encuestas y Cuestionarios
18.
Congenit Anom (Kyoto) ; 62(1): 11-17, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34505318

RESUMEN

We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy. The fact that the birth prevalence of orofacial clefts has basically remained unchanged for more than 30 years, even with recent more detailed prenatal diagnosis based on the improvement of ultrasonic diagnostic equipment, has allowed us tentatively to conclude that prenatal diagnosis is not currently threatening the right to life of the fetuses with orofacial clefts.


Asunto(s)
Labio Leporino , Fisura del Paladar , Labio Leporino/diagnóstico por imagen , Labio Leporino/epidemiología , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/epidemiología , Femenino , Humanos , Japón/epidemiología , Embarazo , Diagnóstico Prenatal , Prevalencia
19.
J Speech Lang Hear Res ; 64(5): 1515-1525, 2021 05 11.
Artículo en Inglés | MEDLINE | ID: mdl-33909445

RESUMEN

Purpose The purpose of the current study was to examine normative nasalance values in Vietnamese adult speakers with Southern dialect and to investigate the effects of vowels and tones on nasalance. Previous studies examining nasalance have been mainly conducted with Indo-European languages. Limited information on nasalance is available in tone languages other than Chinese. Furthermore, tone and vowel effects on nasalance scores in tone languages have not been fully examined. Method Nasalance scores of various speech stimuli including passages, syllables, and prolonged vowels were obtained from Vietnamese-speaking adults with Southern dialect (M age = 23 years) using a nasometer (KayPENTAX 6450). Results The average nasalance scores of Southern Vietnamese adult speakers were 24.16%, 38.17%, and 70.03% for the oral, oral-nasal, and nasal passages, respectively. Southern Vietnamese speakers produced the highest nasalance scores on the vowel /a/, followed by /i/ and /u/. Nasalance scores of stimuli produced with the falling and restricted tone were significantly lower than those produced with the other tones. Conclusions The normative nasalance values of the current study will contribute as a reference index for the Vietnamese language. The effects of vowels and tones can also provide insight into the development of nasalance testing stimuli and for characterizing nasalance values across languages.


Asunto(s)
Lenguaje , Acústica del Lenguaje , Adulto , Pueblo Asiatico , Humanos , Medición de la Producción del Habla , Calidad de la Voz , Adulto Joven
20.
Regen Ther ; 16: 12-22, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33426238

RESUMEN

INTRODUCTION: This study aimed to examine the bone-forming ability of medium-cross-linked recombinant collagen peptide (mRCP) particles developedbased on human collagen type I, contains an arginyl-glycyl-aspartic acid-rich motif, fabricated as bone filling material, compared to that of the autologous bone graft. METHODS: Calvarial bone defects were created in immunodeficient rats though a surgical procedure. The rats were divided into 2 groups: mRCP graft and tibia bone graft (bone graft). The bone formation potential of mRCP was evaluated by micro-computed tomography and hematoxylin-eosin staining at 1, 2, 3, and 4 weeks after surgery, and the data were analyzed and compared to those of the bone graft. RESULTS: The axial volume-rendered images demonstrated considerable bony bridging with the mRCP graft, but there was no significant difference in the bone volume and bone mineral density between the mRCP graft and bone graft at 4 weeks. The peripheral new bone density was significantly higher than the central new bone density and the bottom side score was significantly higher than the top side score at early stage in the regenerated bone within the bone defects. CONCLUSION: These results indicate that mRCP has a high potential of recruiting osteogenic cells, comparable to that of autologous bone chips.

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