Upper Lip Prosthesis Retained to a Palatal Obturator

In cases of total or partial maxillectomies, the prosthetic rehabilitation is an effective alternative to minimize the sequelae left by surgical resection. The present study reports a clinical case of a 52-year-old patient who underwent partial maxillectomy, with upper lip involvement. The oronasal communication, resultant from surgical resection, did not allow the patient to return to her normal social life. Besides, the upper lip partial resection damaged her face's aesthetics. The proposed treatment was the confection of an upper lip prosthesis retained by a palatal obturator. The prosthesis insertion restored the patient's facial aesthetics, contributing not only to function, but also to psychosocial adaptation.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection(1), but the function of IRF6 is unknown. The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3). The disorder is an autosomal dominant form of cleft lip and palate with lip pits(4), and is the most common syndromic form of cleft lip or palate. Popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies(5). Phenotypic overlap(6) and linkage data(7) suggest that these two disorders are allelic. We found a nonsense mutation in IRF6 in the affected twin of a pair of monozygotic twins who were discordant for VWS. Subsequently, we identified mutations in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Expression analyses showed high levels of Irf6 mRNA along the medial edge of the fusing palate, tooth buds, hair follicles, genitalia and skin. Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual With Van der Woude Syndrome

Genetic variation in the transcription factor interferon regulatory factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five criteria to identify potential IRF6 target genes; differential gene expression in skin taken from wild-type and Irf6-deficient murine embryos, localization to the Van der Woude syndrome 2 (VWS2) locus at 1p36-1p32, overlapping expression with Irf6, presence of a conserved predicted-binding site in the promoter region, and a mutant murine phenotype that was similar to the Irf6 mutant mouse. Previously, we observed altered expression for 573 genes; 13 were located in the murine region syntenic to the VWS2 locus. Two of these genes, Wdr65 and Stratifin, met 4 of 5 criteria. Wdr65 was a novel gene that encoded a predicted protein of 1,250 amino acids with two WD domains. As potential targets for Irf6 regulation, we hypothesized that disease-causing mutations will be found in WDR65 and Stratifin in individuals with VWS or VWS-like syndromes. We identified a potentially etiologic missense mutation in WDR65 in a person with VWS who does not have an exonic mutation in IRF6. The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. (C) 2011 Wiley-Liss, Inc.

Submucous myomas: A new presurgical classification to evaluate the viability of hysteroscopic surgical treatment - Preliminary report

STUDY OBJECTIVE: To develop a new preoperative classification of submucous myomas for evaluating the viability and the degree of difficulty of hysteroscopic myomectomy.DESIGN: Retrospective study (Canadian Task Force classification II-3)SETTING: University teaching hospitals.PATIENTS: Fifty-five patients who underwent hysteroscopic resection of submucous myomas.INTERVENTION: the possibility of total resection of the myoma, the operating time, the fluid deficit, and the frequency of any complications were considered. The myomas were classified according to the Classification of the European Society for Gynaecological Endoscopy (ESGE) and by our group's new classification (NC), which considers not only the degree of penetration of the myoma into the myometrium, but also adds in such parameters as the distance of the base of the myoma from the uterine wall, the size of the nodule (cm), and the topography of the uterine cavity. The Fisher's exact test, the Student's t test, and the analysis of variance test were used in the statistical analysis. A p value less than .05 in the two-tailed test was considered significant.MEASUREMENTS AND MAIN RESULTS: In 57 myomas, hysteroscopic surgery was considered complete. There was no significant difference among the three ESGE levels (0, 1, and 2). Using the NC, the difference between the numbers of complete surgeries was significant (p < .001) for the two levels (groups I and H). The difference between the operating times was significant for the two classifications. With respect to the fluid deficit, only the NC showed significant differences between the levels (p = .02).CONCLUSIONS: We believe that the NC gives more clues as to the difficulties of a hysteroscopic myomectomy than the standard ESGE classification. It should be stressed that the number of hysteroscopic myomectomies used in this analysis was low, and it would be interesting to evaluate the performance of the classification in a larger number of patients. (c) 2005 AAGL. All rights reserved.

MICHELS SYNDROME IN A BRAZILIAN GIRL BORN TO CONSANGUINEOUS PARENTS

We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the Michels syndrome. (C) 1995 Wiley-Liss, Inc.

Myiasis in Palate by Cochliomyia hominivorax

Myiasis is the infestation of tissues and organs of animals and humans caused by the larvae of certain dipteran flies. It is more common in undeveloped and tropical countries and usually affects elderly patients, persons who are sick, and patients with mental illness. Oral myiasis is a rare pathologic condition and a risk to the patient's life because of its great destructive potential. Therefore, appropriate treatment is necessary. This article aimed to report a case of myiasis caused by Cochliomyia hominivorax in the palate of a patient with primary progressive aphasia, which was successfully treated through mechanical removal of larvae plus administration of ivermectin.

Alcohol-induced alterations in the palate epithelium of the rat fetus.

Maternal alcoholism (ethanol and sugar cane brandy) during gestation induces delayed cellular growth and differentiation in fetal rat palate epithelium, with increased nuclear, cytoplasmic and cellular volumes, increased epithelial and keratin thickness and decreased cellular numerical density.

Hysteroscopic myomectomy in a submucous fibroid 3 mm from the serosa: A case report - Case report from the endoscopy service of Ginendo-RJ

This is a case report of a 39-year-old black woman, nulliparous, married who presented a heavy menstrual flow with clots and dysmenorrhea. Gynaecological examination of the uterus revealed RVF, mobility, no pain, slight enlargement, and right displacement. Magnetic resonance imaging (MRI) of the pelvis showed a 40 mm submucous fibroid with intramural component less than 50%, type 1, with a 3 mm distance from serosa. In an office hysteroscopy, it was noted a 40 mm submucous fibroid with an intramural component with less than 50%, type 1, classified in STEP-W submucous fibroids classification as a Score 6, Group II. The patient was submitted to partial hysteroscopic myomectomy, removing 60% of the fibroid volume in a 48.75-minute surgery. GnRH analogue was indicated for 3 months before another intervention. In the second evaluation MRI revealed a 22 mm-fibroid with intramural component more than 50%, type 2, with a 7 mm distance from serosa. Hysteroscopy found a 20 mm submucous fibroid, with intramural component more than 50%, type 2, Score 4, Group I on STEP-W classification. The patient was submitted to a second hysteroscopic myomectomy with complete removal and 10.5 minutes operating time, without complications. © 2006 Springer-Verlag.

Unusual wooden foreign body in the palate

We report a case of a palatal calcified foreign body simulating an odontogenic lesion. Surgical exploration revealed a calcified mass that was analysed under light microscopy and identified as a vegetal foreign body. Further scanning electron microscopy analysis revealed that the foreign body was a piece of wood. Hard palate foreign bodies have been reported previously, however, it seems that this is the first case of its kind. © 2007 Nature Publishing Group.

Anovulvar cleft and vaginal prolapse-hyperplasia in a bitch

This report presents the case of a nine-month-old bitch with incomplete occlusion of the skin and mucosa between the anus and dorsal commissure of the vulva. This anomaly, known as anovulvar cleft, was associated with a vaginal prolapse-hyperplasia. Anovulvar cleft is a rare condition in bitches and is caused by incomplete closure of the dorsal urogenital folds. Anovulvar cleft can lead to clitoritis, abrasion, dryness and devitalisation of the smooth exposed mucosa. Surgery can correct the condition. In the present study, surgical resection of the hyperplasic vaginal tissue associated with perineoplasty using an inverted V-shaped incision showed excellent results. An ovariohysterectomy was also performed to prevent recurrence of the vaginal prolapse-hyperplasia. © 2007 British Small Animal Veterinary Association.