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.

Medical conditions and body pain in patients presenting orofacial pain

OBJETIVO: Verificar a frequência de problemas médicos autorrelatados e a frequência de áreas de dor no corpo em pacientes com dor orofacial, comparando-os a pacientes submetidos a tratamento odontológico de rotina. MÉTODOS: Os dados foram coletados dos arquivos da Clínica de Dor Orofacial (Grupo A, n=319) e de clínicas de tratamento odontológico rotineiro (Grupo B, n=84) da Faculdade de Odontologia de Araraquara, São Paulo, Brasil. Os indivíduos responderam a questionários e preencheram um mapa corporal indicando os locais de dor. RESULTADOS: O teste de Mann-Whitney demonstrou que o Grupo A apresentou uma média de relatos de problemas médicos superior ao Grupo B (p=0,004). Para ambos os grupos, o teste de correlação de Pearson demonstrou correlação positiva entre os problemas médicos e a frequência de áreas dolorosas (respectivamente, 0,478, p=0,001 e 0,246, p=0,000). CONCLUSÕES: O Grupo A relatou maior número de problemas médicos e houve correlação positiva entre a frequência desses problemas e a de áreas de dor para ambos os grupos.

Symptoms of Temporomandibular Disorders in the Population: An Epidemiological Study

Aims: To estimate the prevalence of symptoms of temporomandibular disorders (TMD) as a function of age and gender, in a representative urban sample from the Brazilian population. Methods: A total of 1,230 inhabitants (51.5% women) aged 15 to 65 years were interviewed by a validated phone survey. Sample size had been previously calculated. TMD symptoms were assessed through five questions, as recommended by the American Academy of Orofacial Pain, in an attempt to identify possible TMD. Data were derived by age and gender. Prevalence of each TMD symptom, and of combination of symptoms, was calculated. Results: At least one TMD symptom was reported by 39.2% of the individuals. Pain related to TMD was noted by 25.6% of the population. Temporomandibular joint (TMJ) sound was the most common symptom of TMD, followed by TMJ pain and masticatory muscle pain. All symptoms were more prevalent in women than in men. With men used as the reference, a relative risk (RR) of at least one TMD symptom in women was 1.31 (95% confidence interval [CI] = 1.14 to 1.52). When at least two symptoms were present, the RR was 1.93 (95% CI = 1.49 to 2.51). For three or more TMD symptoms, the RR was 2.49 (95% CI = 1.67 to 3.71). Women were also more likely than men to have TMD pain (RR = 1.78; 9% CI = 1.45 to 2.18). Conclusion: Individual symptoms, as well as a combination of TMD symptoms, are prevalent in the Brazilian urban population and are more frequent in women than in men. Additional studies should focus on risk factors for and relevance of TMD for the sufferers. J OROFAC PAIN 2010;24:270-278

Migraine is the Most Prevalent Primary Headache in Individuals with Temporomandibular Disorders

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Sleep bruxism: Clinical aspects and characteristics in patients with and without chronic orofacial pain

Objective. Evaluation of long-standing sleep bruxism (SB) patients. Study Design. Descriptive study. Results. One hundred subjects with SB (80 women and 20 men, mean age: 36.1±11.3 years) were evaluated according to the RDC/TMD and a pain questionnaire (EDOF-HC). The patients were divided into 2 groups: Group A-without (30.0%) and Group B-with orofacial pain (70.0%). AM stiffness: 36.4% in Group A and 88.6% in Group B; mean pain duration: 6.92 years; mean intensity of pain: 4.33 (VAS); quality of pain: tightness/pressure (84,3%); 95.7% of Group B had myofascial pain. Depression and somatization levels were different between the groups (p = 0.001). Higher frequency of depression was found with body pain or presence of comorbidities. Conclusion. The data presented in this study showed statistical differences between long-standing bruxism without and with chronic facial pain; the two questionnaires allowed interaction between the chief complaint and the clinical findings; depression levels increased with pain in several regions of the body. © 2006 Elsevier Inc. All rights reserved.

Relationship between anxiety and chronic orofacial pain of temporomandibular disorder in a group of university students

Purpose: This study evaluated the relationship between anxiety levels and severity degrees of chronic orofacial pain of temporomandibular disorder in brazilian university students. Methods: 150 volunteers (117 men and 33 women), with age ranging from 17 to 30 years, were subjects to this study. Spielberger's trait-state anxiety inventory was used to evaluate trait and state anxiety of the students, while examination for chronic orofacial pain was performed in accordance with the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Association between anxiety levels and severity degrees of chronic orofacial pain was tested using the Chi-square test. The significance level was set at p<.05. Results: The results showed that 32.7% (n = 49) of the subjects exhibited TMD, and the intensity of chronic orofacial pain was classified as degree 1 in 85.7% (n = 42) and as degree 2 in 14.3% (n = 7) of them. Based on the results of the Spielberger's trait-state anxiety inventory, the majority of the students had moderate anxiety (48.6% and 48.1%, respectively). The correlation between trait-anxiety levels and chronic orofacial pain degrees was significant and positive (p<.05). However, no significant correlation was found to state-anxiety levels and chronic orofacial pain degrees (p>.05). Conclusion: It was concluded that chronic orofacial pain of TMD could be present in university students and anxiety may be related. © 2010 Japan Prosthodontic Society. Published by Elsevier Ireland. All rights reserved.

Temporomandibular disorders, sleep bruxism, and primary headaches are mutually associated.

To investigate the association among temporomandibular disorders (TMD), sleep bruxism, and primary headaches, assessing the risk of occurrence of primary headaches in patients with or without painful TMD and sleep bruxism. The sample consisted of 301 individuals (253 women and 48 men) with ages varying from 18 to 76 years old (average age of 37.5 years). The Research Diagnostic Criteria for Temporomandibular Disorders were used to classify TMD. Sleep bruxism was diagnosed by clinical criteria proposed by the American Academy of Sleep Medicine, and primary headaches were diagnosed according to the International Classification of Headache Disorders-II. Data were analyzed by chi-square and odds ratio tests with a 95% confidence interval, and the significance level adopted was .05. An association was found among painful TMD, migraine, and tension-type headache (P < .01). The magnitude of association was higher for chronic migraine (odds ratio = 95.9; 95% confidence intervals = 12.51-734.64), followed by episodic migraine (7.0; 3.45-14.22) and episodic tension-type headache (3.7; 1.59-8.75). With regard to sleep bruxism, the association was significant only for chronic migraine (3.8; 1.83-7.84). When the sample was stratified by the presence of sleep bruxism and painful TMD, only the presence of sleep bruxism did not increase the risk for any type of headache. The presence of painful TMD without sleep bruxism significantly increased the risk in particular for chronic migraine (30.1; 3.58-252.81), followed by episodic migraine (3.7; 1.46-9.16). The association between painful TMD and sleep bruxism significantly increased the risk for chronic migraine (87.1; 10.79-702.18), followed by episodic migraine (6.7; 2.79-15.98) and episodic tension-type headache (3.8; 1.38-10.69). The association of sleep bruxism and painful TMD greatly increased the risk for episodic migraine, episodic tension-type headache, and especially for chronic migraine.

Estudo da prevalência de cefaléias primárias e da sua associação com a dor orofacial em pacientes com disfunção temporomandibular crônica

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Treatment of Comorbid Migraine and Temporomandibular Disorders: A Factorial, Double-Blind, Randomized, Placebo-Controlled Study

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Temporomandibular disorders among Brazilian adolescents: reliability and validity of a screening questionnaire

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Temporomandibular disorders in females: acupuncture compared to occlusal splint

To compare the effect of acupuncture and occlusal splint in the treatment of temporomandibular disorders (TMD) in female patients.Method: Forty-eight female patients (mean age of 39.3±6.8 years) with diagnosed pain in muscles or joint according to RDC/TMD criteria were attended at UNESP - Aracatuba Dental School. Including criteria were reported pain in the chewing muscles and/or in the temporomandibular joint measured by a visual analogue scale (range from 0 to 10) and a reported reduction of the maximum mouth opening. Excluding factors were major occlusal problems, systemic diseases, pregnancy and age below 18 years. After randomization, the first group was treated with acupuncture performed by instructed dentist. The second group was treated with occlusal splint. The outcome variables were assessed at baseline (prior to the first treatment session) and after 1, 3 and 6 months. Primary criteria of success were improvement of mouth opening and pain reduction.Result: Acupuncture group exhibited chewing pain decrease from 5 (at baseline) to 1, 2 and 1 after 1, 3 and 6 months, respectively. In the splint group, chewing pain decreased from 4 to 2, 1 and 2 after 1, 3 and 6 months, respectively. The mouth opening (in mm) increased from 28 (at baseline) to 42, 44 and 46 after 1, 3 and 6 months, respectively in the acupuncture group. In the splint group, mouth opening improved from 29 to 40 after 1 month, and to 43 and 42 after 3 and 6 months. A significant pain reduction was noted for both groups when compared to the baseline (p<.001; Wilcoxon test). Acupuncture group had a significant clinical improvement of opening mouth (Mann-Whitney). Conclusion: The present outcomes suggest a positive association among acupuncture and occlusal splint on the reduction of chewing pain. Acupuncture was more effective in the mouth opening increase.

Echocardiographic abnormalities in children with obstructive breathing disorders during sleep

Objectives: To assess cardiac morphology and function by means of echocardiograms of children with obstructad breathing while asleep.Methods: the study enrolled 40 children of both sexes, aged from 3 to 11 years; 30 of them had obstructed breathing during sleep (group I) and 10 children were healthy controls (group II). The two groups were similar in terms of sex, age, weight and height. The 40 children underwent echocardiogram, viewing all four chambers during systole and diastole, paying special attention to the right ventricle (RV). These data were compared by means of Student's t test (p < 0.05).Results: In group I, increased diameter and area of the right ventricle were observed during both systole and diastole. There was less variation in RV area between systole and diastole. Reduced left ventricle (LV) diastolic diameter was also observed, together with reduced ejection fraction and reduced contraction.Conclusions: the morphological and functional cardiac abnormalities observed in the RV and LV suggest that, in children, obstructed breathing during sleep can lead to cardiovascular repercussions. These abnormalities may expose these children to increased anesthetic and surgical risks.

Prevalence of dermatologic disorders in 15 patients with acromegaly

Acromegalia é doença crônica rara, insidiosa, decorrente da hipersecreção de hormônio do crescimento, cujos efeitos tróficos e metabólicos frequentemente incorrem em manifestações cutâneas, que podem ser precoces. Os autores avaliaram 15 pacientes portadores de acromegalia e evidenciaram alterações dermatológicas em todos, principalmente espessamento da pele, acrocórdons, cistos epidérmicos, pseudoacantose nigricante, queratoses seborreicas, nevos melanocíticos e manchas lentiginosas.

Affective disorders, hospital admissions, and seasonal variation of mania in a subtropical area, southern hemisphere

Hospital admissions (n = 15,450) to a state psychiatric hospital in Botucatu, São Paulo State, Brazil, over a 10-year period (1982-1991) were reviewed. 157 (1%) patients received a probable diagnosis of affective disorder according to DSM-III-R criteria. Among them, 46% had been diagnosed by the staff psychiatrists, and their diagnoses were sustained by the researchers, whereas 54% were diagnosed only by one of the researchers (F.K.C.). These last patients had previously received a diagnosis of paranoid schizophrenia or unspecified psychosis (ICD-9). Most of the patients with affective disorders were bipolar: 72 and 8%, respectively, presented manic and depressive episodes. Thus, only 20% received a diagnosis of major depression. A seasonal pattern in hospital admission was observed only for mania in women, their episodes occurring more often (p < 0.02) in spring and summer. No significant seasonal pattern in hospital admission for depression was found.

Critical analysis of the international classification of headache disorders diagnostic criteria (ICHD I-1988) and (ICHD II-2004), for migraine in children and adolescents

The present study analyzed the (ICHD I-1988) and ( ICHD II-2004) diagnostic criteria in children and adolescents. Our population consisted of 496 patients of the Headache Outpatient Ward for Children and Adolescents retrospectively studied from 1992 to 2002. Individuals were classified according to three diagnostic groups: Intuitive Clinical Diagnosis ( Gold Standard), ICHD I-1988 and ICHD II-2004. They were statistically compared using the variables: Sensitivity ( S), Specificity (Sp), Positive Predictive Value (PPV), Negative Predictive Value (NPV). When ICHD I-1988 was used, the sensitivity of migraine without and with aura was 21% and 27%, respectively, whereas in ICHD II-2004 it changed to 53% and 71% without affecting specificity. As a conclusion, the current classification criteria ( ICHD II-2004) showed greater sensitivity and high specificity for migraine than ICHD I-1988, although it improved migraine diagnosis in children and adolescents, the sensitivity remains poor.