Claudia Yamada Utagawa

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

UNLABELLED The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler - MPS I (1 case); Hunter - MPS II (2 cases); Sanfilippo - MPS III (2 cases); Morquio - MPS IV (4 cases); Maroteaux-Lamy - MPS VI (9 cases); and Sly - MPS VII (1 case). DISCUSSION The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias

Abstract: Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5‐year‐old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome.

Further delineation of Char syndrome.

comprising wide-set eyes, ptosis, very short philtrum, duckbill lips, low-set ears, patent ductus arteriosus (PDA) and the presence of only two phalanges in both fifth fingers.1 Four other families showing similar facial characteristics and PDA were described.2–5 This condition is now known as Char syndrome. In the present paper, we present a Brazilian family including three individuals affected by this disorder, in which the facial characteristics are striking.

Clinical and radiological aspects in Melnick-Needles syndrome

Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids. S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission. The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.

Quiz: um questionário eletrônico para autoavaliação e aprendizagem em genética e biologia molecular

O conhecimento sobre temas de Genetica e Biologia Molecular, nos ultimos anos, vem crescendo de maneira exponencial, demandando constante atualizacao, principalmente se considerarmos que, ao final do periodo de graduacao, muito desse conhecimento esta desatualizado. O Quiz de Genetica e Biologia Molecular (GBM) foi proposto como nova ferramenta de ensino para complementar a abordagem dessa tematica no ensino de ciencias da saude. Elaborado por alunos dos cursos de Medicina e Sistemas de Informacao do UniFOA orientados pelos professores, o Quiz foi aplicado e avaliado por 159 alunos do terceiro periodo de Medicina. Os resultados mostraram excelente aceitacao pelos alunos submetidos a ferramenta, apontando principalmente um aumento de interesse nos temas abordados e a possibilidade de reconhecimento das deficiencias especificas de subtemas de cada aluno, facilitando correcoes no processo de aprendizagem. O Quiz surge como um novo instrumento didatico que sera atualizado e direcionado para as deficiencias encontradas pelos alunos e ofertado de maneira presencial ou a distância

Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2

The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.