A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes.

Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the FAM83H gene (NM_198488.5:c.1289C>A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.

Técnica de terapia inhalatoria: evaluación de una intervención educativa realizada a estudiantes de Medicina, posgrados de Pediatría y cuidadores de niños y adolescentes internados en un hospital pediátrico de referencia. Período junio-agosto de 2019 / Inhalation therapy: Assessment of a training intervention delivered to Medical students, Postgraduate students of Pediatrics and to caregivers of children and adolescents admitted to a Reference Pediatric Hospital from June to August, 2019 / Terapia por inalação: avaliação de uma intervenção de treinamento com estudantes de medicina, estudantes de pós-graduação em pediatria e cuidadores de crianças e adolescentes internados em um hospital pediátrico de referência de junho a agosto de 2019

Resumen: Introducción: las patologías respiratorias con broncoobstrucción representan una causa frecuente de ingresos hospitalarios, siendo la vía inhalatoria de elección en su tratamiento. Objetivos: conocer la técnica de inhaloterapia realizada por estudiantes de Medicina, posgrados de Pediatría y cuidadores, y de los niños y adolescentes hospitalizados. Metodología: estudio prospectivo, descriptivo, de junio a agosto de 2019. Se elaboró un cuestionario con el procedimiento de la técnica inhalatoria con máscara facial, boquilla e higiene del dispositivo. Se solicitó al cuidador que describiera el procedimiento que realizaba al administrar fármacos inhalados. Se realizó una intervención explicando la correcta técnica y posteriormente se solicitó que describiera nuevamente el procedimiento. Estudiantes de Medicina y posgrados de Pediatría fueron evaluados según recomendaciones internacionales. Resultados: del total de 80 participantes, tres realizaron el procedimiento de forma adecuada. Luego de la intervención, 27 lograron una técnica correcta. En cuanto a la higiene del dispositivo, tres participantes lo realizaron correctamente previo a la intervención. Posteriormente, 44 lo refirieron adecuadamente. Participaron 25 profesionales de la salud, 15 describieron de forma correcta el procedimiento en menores de 5 años y siete en niños mayores. Posteriormente al taller informativo, 24 lograron describir adecuadamente la técnica en menores de 5 años y 15 en mayores. Conclusiones: la mayoría de los cuidadores desconocen la correcta técnica de inhaloterapia. Se debería implementar intervenciones destinadas a evaluar y entrenar a los pacientes de forma regular. Es fundamental capacitar al personal de salud para la mejora en la calidad de utilización del dispositivo.

Summary: Introduction: broncho-obstructive respiratory pathologies are a frequent cause of hospital admissions, and inhalation remains the main choice of treatment. Objectives: learn about the inhalation technique performed by medical students and postgraduate students of pediatrics and by caregivers of hospitalized children and adolescents. Methodology: prospective, descriptive study carried out from June to August 2019. A questionnaire was prepared about the inhalation technique requiring facial mask, and mouthpiece and about the hygiene of the device. Caregivers were asked to describe the procedure performed when administering inhaled drugs. An intervention was performed explaining the correct technique and the caregiver was asked to describe the procedure again. Medical and Pediatrics' students were assessed as per the international recommendations. Results: out of 80 participants, 3 performed the procedure appropriately. After the intervention, 27 they performed the technique correctly. 3 participants performed the device hygiene correctly before the intervention, and after the intervention, 44 did it properly. 25 health professionals participated, 15 correctly described the procedure on children under 5 years of age and 7 described it correctly on older children. After the information workshop, 24 managed to adequately describe the technique on children under 5 years of age and 15 for older patients. Conclusions: Most caregivers are unaware of correct inhalation therapy techniques. Regular interventions aimed at evaluating and training patients should be implemented. It is essential to train health staff to improve the quality of use of the device.

Resumo: Introdução: as patologias respiratórias bronco-obstrutivas são uma causa frequente de internações hospitalares e a inalação é ainda a principal opção de tratamento. Objetivos: aprender sobre a técnica de inalação realizada por estudantes de Medicina e Pediatria e por cuidadores de crianças e adolescentes hospitalizados. Metodologia: estudo prospectivo, descritivo, realizado de junho a agosto de 2019. Elaborou-se um questionário sobre a técnica de inalação que requer máscara facial e bocal e sobre a higiene do dispositivo. Pediu-se ao cuidador que descrevesse o procedimento realizado ao administrar drogas inaladas. Fizemos uma intervenção explicando a técnica correta e pedimos ao cuidador que descrevesse o procedimento novamente. Avaliamos aos estudantes de medicina e aos de pós-graduação em Pediatria de acordo com as recomendações internacionais. Resultados: dos 80 participantes, 3 realizaram o procedimento adequadamente. Após a intervenção, 27 deles realizaram a técnica corretamente. 3 participantes realizaram a higiene do dispositivo corretamente antes da intervenção e, após a intervenção, 44 a realizaram corretamente. Participaram 25 profissionais de saúde, 15 descreveram corretamente o procedimento para crianças menores de 5 anos e 7 descreveram corretamente para crianças maiores. Após o workshop informativo, 24 conseguiram descrever adequadamente a técnica para crianças menores de 5 anos e 15 para pacientes mais maiores. Conclusões: a maioria dos cuidadores desconhecem as técnicas corretas de terapia por inalação. Devem-se implementar intervenções regulares destinadas a avaliar e treinar pacientes. É essencial treinar a equipe de saúde para melhorar a qualidade de uso do dispositivo.

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.

In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) in exon 15 of the PTCH1 gene. Mutations in this gene are associated with the nevoid basal cell carcinoma syndrome (NBCCS, OMIM 109400) and, in other instances, with holoprosencephaly (holoprosencephaly-7, OMIM 610828). Severe eye involvement ranging from orbital coloboma to microphthalmia has been seldom reported in patients with NBCCS with PTCH1 mutations. To our knowledge, this is the first report of an individual with central nervous system, skin, and eye manifestations due to a PTCH1 mutation. Mechanisms involved in these multisystem manifestations are discussed.

Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri-Costa-Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex-ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named "Vale do Ribeira." The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown.