Modern lifestyle changes may result in site-specific alterations in the skeleton. Our aim was to determine sex and age differences in regional geometry at the mid-femur. Complete cross sections from 113 individuals aged 20-97 years from a modern Australian population were obtained. A further subsample of 24, in whom the precise orientation of specimens was known, was subsequently collected. Microradiographs were made of 100-microm sections and the bone was analyzed using image processing software (Optimas, Media Cybernetics). The periosteal boundary was extracted automatically and the centroid of the periosteal outline was calculated. Fourier shape analysis was used to delineate the endocortical surface. Radial and cortical widths in each quadrant were determined. The posterior was identified by the linea aspera, and the medial and lateral were indistinguishable and therefore grouped together. For analysis, the entire sample was divided into three groups: young (20-40 years), middle (41-60 years), and old (61+ years). Raw and height-normalized values were analyzed with SPSS using t-tests, analysis of variance, and Tukey's honestly significant difference (HSD) tests. The results show that with age the femoral mid-shaft in both sexes becomes larger and more circular, with a slight shift towards the anterior. Apposition is least on the posterior and resorption greatest on the anterior, the latter being particularly evident in postmenopausal females. The greatest sex differences are seen in the middle years, lessening again in the old. We conclude that differential circumferential modeling in response to functional and postural changes occurs in both sexes with age.

Aim: To determine the applicability of pocket ultrasound as a complementary method for clinical evaluation during the first trimester of pregnancy. Material and methods: A prospective cross-sectional study was conducted with 86 pregnant women attended in an emergency. The same operator performed the first examination with pocket device Vscan (General Electric, Vingmed Ultrasound, Horten, Norway) and then repeated the exam using a traditional handset high resolution Voluson 730 Expert (General Electric Healthcare Ultrasound, Milwaukee, WI, USA). Data were recorded with individual diagnoses by means of yes/no binary as the visualization of variables: gestational sac, embryo, embryo heartbeat, topical or ectopic pregnancy. Concordance was calculated using the kappa coefficient with its respective 95% confidential intervals (CI). Results: There was no disagreement between the methods when compared the pocket and conventional ultrasounds. The best comparative result between the devices was as the visualization of the embryo heartbeat with kappa coefficient of 0.84 (95% CI 0.76 to 0.89). However, the pocket ultrasound had a low correlation for diagnosis of ectopic pregnancy, with kappa coefficient of −0.02 (95% CI −0.23 to 0.19). The smaller structure visualized and studied using the pocket ultrasound was an embryo of 3.4 mm. Conclusions: The method of pocket ultrasound has the potential to become a complementary and easy access for diagnostic tool in obstetric patients during the first trimester. However, in ectopic pregnancy cases the diagnosis should be realized by conventional ultrasound.

CONTEXT: Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT: The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16 th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions) and mesomelia (shortening of the intermediate portions). Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR) and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS: Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature. RESUMOCONTEXTO: A displasia diastrófica é uma osteocondrodisplasia causada por mutação homozigótica no gene DTDST (diastrophic dysplasia sulfate transporter gene). As alterações, principalmente nos sistemas esquelético e cartilaginoso, são típicas dessa doença, que tem uma incidência de 1 em 100.000 nascidos vivos. RELATO DO CASO: Descreve-se o caso de uma mulher gestante, sem relação consanguínea com o seu marido, cujo feto foi diagnosticado com displasia esquelética baseado na ultrassonografia e em testes de DNA. A ultrassonografia obstétrica, realizada na 16 a semana, revelou características que guiaram o diagnóstico clínico. Entre elas, se destacam os membros inferiores e superiores com rizomelia (encurtamento das porções proximais) e mesomelia (encurtamento das porções intermediárias), ambos os membros superiores mostraram acentuada flexão, o primeiro dedo em abdução nas extremidades superiores e clinodactilia do quinto dedo. A análise molecular pela reação em cadeia da polimerase (PCR) e o sequenciamento gênico detectou mutações já descritas na literatura para o gene DTDST, chamado c.862C > T e c.2147_2148insCT. Portanto, o feto é um heterozigoto composto, carreando duas mutações diferentes. CONCLUSÕES: O diagnóstico pré-natal dessa condição permite uma interpretação mais realista do prognóstico e do futuro reprodutivo do casal. Este relato de caso mostra a contribuição da genética molecular no diagnóstico pré-natal, com poucas descrições na literatura.

Reference values for the fetal cisterna magna volume by 3DUS using the VOCAL method were determined and showed good agreement and intra-observer reliability.

This study aimed to establish reference values for the length and area of the fetal cisterna magna using the multiplanar mode of 3-dimensional ultrasonography. A cross-sectional study including 224 normal pregnant women between 17 weeks 0 days and 29 weeks 6 days of gestation was carried out. The area and length of the fetal cisterna magna were measured in the axial plane at the level of the cerebellar transverse diameter. Reliability was determined by intraclass correlation coefficient. The mean length and area of the fetal cisterna magna ranged from 0.50 ± 0.10 to 0.79 ± 0.18 cm and 0.95 ± 0.18 to 3.09 ± 0.62 cm(2), respectively. Intraobserver reliability for the length and area (intraclass coefficients: 0.86 and 0.91, respectively) and interobserver reliability (intraclass coefficients: 0.64 and 0.82, respectively) were good. Three-dimensional ultrasonography using the multiplanar mode is a reliable method for the determination of reference values for the length and area of the fetal cisterna magna.