BACKGROUND AND OBJECTIVES: Persistent idiopathic facial pain is a chronic disease with neuropathic origin, whose etiology is usually unknown; it is a medical condition that does not respond satisfactorily to drug therapy. It is also a disease with a major impact on patient quality of life and difficult to diagnose. This study aimed to report the diagnosis of a complex, persistent idiopathic facial pain, the pharmacological intervention taken and the adoption of integrative and complementary practices for the management of persistent idiopathic facial, as well as the clinical course and the impact of these actions on the patient's quality of life. CASE REPORT: A female patient, 52, diagnosed 06 years ago as a carrier of persistente idiopathic facial pain associated with bruxism and temporomandibular disorders. The patient presented with a complaint of orofacial pain which did not meet the diagnostic criteria for temporomandibular disorders. The patient also presented myofascial and trigeminal neuralgia pain in the left buccal region which emerged after performing a root canal procedure. The therapeutic plan adopted was based on pharmacological therapy with pregabalin (450mg) in combination with venlafaxine hydrochloride (150mg), continuously. As additional measures, weekly acupuncture sessions, therapy sessions with psychologists, including hypnosis and meditation, as well as peripheral nerve and a venous block during crises and botulinum toxin application were applied. CONCLUSION: The therapeutic plan adopted led to a considerable improvement in the patient's quality of life, evidenced by the reduction in pain intensity and a decrease in the frequency of painful crises. The need for interdisciplinary monitoring, as it is a multifactorial disease, as well as for the ongoing training of various categories of health professionals involved in the treatment of persistent idiopathic facial, given that it is a complication which is rare and difficult to diagnose, is observed.

Knowledge of the genetic profile of Cystic Fibrosis (CF) contributes to a better understanding of the genotype/phenotype relationship, particularly in mixed populations such as in Brazil. To describe clinical data of CF patients with rare or not yet observed CFTR gene mutations in Brazil. It was a case series of CF patients followed-up at a referral center. Clinical and laboratory data were obtained through medical records. Molecular analysis of the mutations was performed by conventional methods and/or by next-generation sequencing. Ten patients were studied, seven had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one of which has not yet been reported in patients with CF (A107P). Among the seven patients, three (two siblings) had the second mutant allele of rare occurrence among Brazilians patients (G1069R and 2307insA). Three other patients also had at least one rare variant (V201M, S466X and G1069R). The age of the CF diagnosis ranged from 1 to 190 months in the ten cases and the main clinical manifestations were respiratory symptoms and difficulty in gaining weight. All but one patient presented clinical and/or laboratory data compatible with pancreatic insufficiency. The identification of rare or not yet described CFTR mutations in patients with CF in Brazil highlights the high genetic heterogeneity in this population. Knowledge of the genotypic profile of Brazilian CF patients can contribute to the development of specific mutation panels for the genetic investigation targeting each region of the country, as well as helping to understand the complex genotype/phenotype relationship, especially in mixed populations.

ABSTRACT Objective: To evaluate the level of self-referenced treatment adherence (TA) and its association with clinical and sociodemographic variables in patients with cystic fibrosis assisted at a reference center, as well as compare the level of self-referenced TA with that presumed by the multidisciplinary team. Methods: This is a cross-sectional study that included children and adolescents aged between 0-20 years with cystic fibrosis. Adolescents older than 14 years or their guardians, when younger than 14 years old, were interviewed using a standardized questionnaire. Professionals from the multidisciplinary clinic filled out another form with their impressions of the patients’ TA. Clinical and laboratory data were obtained in the medical records. The TA was considered satisfactory if the total adherence index (TAI) was equal or higher than 80%. Results: 53 patients were included with a median age of 112 months. The mean TAI was 83.2%. The mean TAIs for dornase alfa, pancreatic enzymes, continued use of inhaled tobramycin, vitamins supplements, nutritional supplements and dietary orientation was respectively: 86.1; 96.6; 78.6; 88.1; 51.8 and 78%. Children younger than 14 years presented better TA (p=0.021). The correlation between the self-referenced TA and the one presumed by the multidisciplinary team ranged from 0,117 to 0.402, being higher for Psychology and Nutrition professionals. Conclusions: The TAI was high particularly among children younger than 14 years. There was a positive correlation between the self-referenced TA and the one presumed by the Psychology (p=0.032) and the nutrition (p=0.012) professionals.

<p><strong>Introdução</strong>: a avaliação e o acompanhamento nutricional fazem parte do cuidado integral dos pacientes com fibrose cística (FC),<br />possibilitando intervenção precoce e tratamento mais efetivo da doença. <strong>Objetivo</strong>: avaliar o estado antropométrico de crianças e<br />adolescentes com FC e pesquisar sua associação com variáveis clínicas e demográficas. <strong>Metodologia</strong>: estudo descritivo, incluindo-se<br />indivíduos entre 1-19 anos de idade. Foram registradas medidas de peso, estatura, circunferência do braço (CB) e da prega cutânea<br />tricipital (PCT) e calculados indicadores antropométricos (Peso/Idade- P/I, Altura idade -A/I e IMC/idade-IMC/I) e Circunferência<br />Muscular do Braço (CMB). Comparou-se o indicador CMB com variáveis clínicas e demográficas através do cálculo de razões de<br />prevalência (RP). <strong>Resultados</strong>: foram incluídos 41 pacientes, 53,6% do sexo masculino, mediana de idade de 78 meses. Quinze (36,6%)<br />pacientes foram classificados como desnutridos pela avaliação da CMB (&lt;P5), enquanto, através do indicador IMC/I, apenas um (2,4%)<br />apresentava magreza. Trinta (73,1%) pacientes tinha insuficiência pancreática (IP), determinada pela terapia de reposição enzimática<br />(TRE) e/ou níveis da elastase fecal. Todos os pacientes realizaram pesquisas de mutações no gene CFTR e 38 (92,8%) tiveram duas<br />variantes patológicas identificadas, dos quais 25 (65,8%) tinham pelo menos um alelo para a variante F508del. Dezesseis (39%)<br />crianças cursavam com infecções respiratórias recorrentes. A desnutrição (CMB&lt;P5) teve uma associação positiva com as seguintes<br />variáveis: idade do diagnóstico, sexo masculino, PCT &gt;P15, TRE, mutação F508/del e A/I&lt;-2, observando-se maior associação com<br />as três últimas, RP de 6,25, 3,12; e 2,06; respectivamente. <strong>Conclusão</strong>: o IMC pode não ser suficiente para a avaliação do estado<br />nutricional na FC, pois subestima a prevalência de desnutrição. Com exceção das infecções respiratórias recorrentes, as demais<br />variáveis tiveram associação com o indicador CMB &lt;P5.</p>

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