Search results for "sonography"
showing 10 items of 978 documents
Multiple congenital contractures (Congenital multiple arthrogryposis)
2002
Arthrogryposis, is the occurrence of joint contractures of variable etiology that start prenatally. Arthrogryposis may result from neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, [figure: see text] or fetal crowding. Arthrogryposis may result from no apparent hereditary causes (neuropathic, for example) or may be the result of hereditary factors (myopathic form, for example). Ultrasound diagnosis depends on observation of scant or absent motion of fetal extremities. Prognosis depends on the specific etiology of the contractures.
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
Young woman with Branchio-Oto-Renal Syndrome and a novel mutation in the EYA-1 gene
2011
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR syndrome. The patient, who had hearing loss and a history of surgeries for correction of bilateral cervical branchial fistulae and bilateral preauricular pits, presented with renal impairment, hypertension and overt proteinuria. DNA sequencing showed a novel heterozygous mutation 1420-14…
Ultrasound Imaging Evaluation of Textural Features in Athletes with Soleus Pathology—A Novel Case-Control Study
2021
Background: the aim of this study was to compare the echotexture of patients with soleus muscle injury and age matched controls. Methods: a sample of 62 athletes was recruited at the private clinic and was divided in two group: a healthy group (n=31) and a soleus pathology group whose athletes had soleus muscle injury, located in the central tendon (n=31). The muscle thickness (MTh), echointensity (EI) and echovariation (EV) were analyzed. An intra-rater reliability test (Intraclass Correlation Coefficient-ICC) was performed in order to analyze the reliability of the values of the measurements. Results: Sociodemographic variables did not show statistically significant differences (p >
Unusual pattern of gastric and hepatic infiltration in an infant with acute monocytic leukemia
1995
A 10-month-old girl with acute monocytic leukemia is presented. Ultrasound of the abdomen on admission showed an unusual distribution of leukemia infiltrates in the stomach and liver. The leukemic infiltrates in the wall of the stomach presented as intraluminal polyps, while the leukemic infiltration of the liver was strictly confined to the portal vessels.
Assessment of the fundamental flexural guided wave in cortical bone by an ultrasonic axial-transmission array transducer
2013
Abstract The fundamental flexural guided wave (FFGW), as modeled, for example, by the A0 Lamb mode, is a clinically useful indicator of cortical bone thickness. In the work described in this article, we tested so-called multiridge-based analysis, based on the crazy climber algorithm and short-time Fourier transform, for assessment of the FFGW component recorded by a clinical array transducer featuring a limited number of elements. Methods included numerical finite-element simulations and experiments in bone phantoms and human radius specimens ( n = 41). The proposed approach enabled extraction of the FFGW component and determination of its group velocity. This group velocity was in good ag…
Ultrasound-based testing of tendon mechanical properties: a critical evaluation.
2015
In the past 20 years, the use of ultrasound-based methods has become a standard approach to measure tendon mechanical properties in vivo. Yet the multitude of methodological approaches adopted by various research groups probably contribute to the large variability of reported values. The technique of obtaining and relating tendon deformation to tensile force in vivo has been applied differently, depending on practical constraints or scientific points of view. Divergence can be seen in 1) methodological considerations, such as the choice of anatomical features to scan and to track, force measurements, or signal synchronization; and 2) in physiological considerations related to the viscoelas…
Bioeffects of ultrasound: an experimental study on human embryos.
1991
Abstract The foetuses of 10 women at 9–12 weeks gestation were irradiated with ultrasound under typical diagnostic exposure conditions immediately prior to abortion. Electron microscopy of liver fragments revealed neither morphological nor structural changes.
Clinical heterogeneity in infantile galactosialidosis
1987
A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of alpha-neuraminidase and beta-galactosidase. The patient's clinical features are compared with the few cases so far described in the liter…
Ultrasonic demonstration of small pancreatic islet cell tumors.
1982
In three patients real-time sonography successfully localized small pancreatic islet cell tumors measuring 7, 8, and 17 mm in size. Ultrasound is suggested as the initial radiologic examination for localization of endocrine pancreatic tumors. If ultrasound is negative or equivocal, computerized tomography, arteriography, and pancreatic venous sampling are indicated.