Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta). Their ages ranged from 10 to 28 (mean of 16.7) years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%); 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7), mosaics (n=5), and deletions (n=3). No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively). This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

A device to improve the Schleger and Turner method for sweating rate measurements

The objective of this study was to test a device developed to improve the functionality, accuracy and precision of the original technique for sweating rate measurements proposed by Schleger and Turner [Schleger AV, Turner HG (1965) Aust J Agric Res 16:92-106]. A device was built for this purpose and tested against the original Schleger and Turner technique. Testing was performed by measuring sweating rates in an experiment involving six Mertolenga heifers subjected to four different thermal levels in a climatic chamber. The device exhibited no functional problems and the results obtained with its use were more consistent than with the Schleger and Turner technique. There was no difference in the reproducibility of the two techniques (same accuracy), but measurements performed with the new device had lower repeatability, corresponding to lower variability and, consequently, to higher precision. When utilizing this device, there is no need for physical contact between the operator and the animal to maintain the filter paper discs in position. This has important advantages: the animals stay quieter, and several animals can be evaluated simultaneously. This is a major advantage because it allows more measurements to be taken in a given period of time, increasing the precision of the observations and diminishing the error associated with temporal hiatus (e.g., the solar angle during field studies). The new device has higher functional versatility when taking measurements in large-scale studies (many animals) under field conditions. The results obtained in this study suggest that the technique using the device presented here could represent an advantageous alternative to the original technique described by Schleger and Turner.

SINDROME DE DUBOWITZ

A presentation of two cases of Dubowitz syndrome in monozigous twin girls. The syndrome is a rare congenital disorder, the main clinical aspects of which include retarded intrauterine and post-natal growth, microcephaly, peculiar face and an eczemic rash, resulting from photosensitivity of the regions exposed to sunlight.

Sindrome das bandas ou constricoes amnioticas: Relato de caso

The authors present a case of constriction band syndrome in a 20-year-old male. There were constriction rings in the interphalangeal joints of hands and in the thigh, shortening of the lower limb and atrophic left gastrocnemius muscle. These findings belong to the described syndrome, which is uncommon and has no genetic implication. Personal antecedent: convulsive syndrome and corrective surgery for congenital bent foot.

Estudo da microarquitetura óssea, do estado nutricional e de fatores farmacológicos na síndrome de Turner

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A interação escolar de uma criança com Sindrome de Tourette, segundo as percepções de pais e educadores um estudo de caso exploratório

The syndrome of Gilles de la Tourette (ST) can cause marked distress in several areas of functioning. The literature indicates that children with TS may present diffi culties in relationships with teachers and peers. This case study exploration aimed to discover and describe the perceptions of parents and teachers of child with TS enrolled in regular school, regarding the child-school relationships. Interviews were conducted with parents of a 8 years-old child, diagnosed with ST and three educators. Participant observation of everyday children’s school was also performed. The set of reports reveals doubts on the part of respondents to identify involuntary behaviors of the child or to identify intentional actions. It was observed that there is still no connection between parents and educators in meeting the needs of the child. It is assumed that intervention strategies in a multidisciplinary perspective could help parents, educators and health care professionals act in a coordinated way in order to improve the school and social interaction of the child.

Análise microbiológica e imunologica do fluido gengival e proteoma salivar de individuos com Sindrome de Down com doença periodontal

Pós-graduação em Odontologia - FOAR

A insurreição contestada: William Styron e As confissões de Nat Turner

This work presents intricacies of "truth" in the historical novel Confessions of Nat Turner, by William Styron, considering the point-of-view of the novel's narrator. When speaking about the black, Styron somehow keeps the white's perspective, and also perpetuates the distance created by the slavery and segregationist system of the United States of America.

Tratamento da sindrome da apnéia e hipopnéia obstrutiva do sono (sahos) com aparelhos intrabucais

The apnea and hypopnea sleep obstructive syndrome is a disorder that affects part of adult population. Some characteristics can come with this syndrome that cause social problems such as snoring and excessive daytime sleepiness, associated many times with pulmonary hypertension and cardiac insufficiency. The dentist who is inserted into a multidisciplinary team is a professional highly regarded for diagnosis and treatment of sleep disorders. Among treatments recommended, therapy with intraoral appliance shows an excellent non invasive alternative, achieving satisfactory results.

Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome

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