Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.

Mutations in NLGN4X have been identified in individuals with autism spectrum disorders and other neurodevelopmental disorders. A previous study reported that adult male mice lacking neuroligin4 (Nlgn4) displayed social approach deficits in the three-chambered test, altered aggressive behaviors and reduced ultrasonic vocalizations. To replicate and extend these findings, independent comprehensive analyses of autism-relevant behavioral phenotypes were conducted in later generations of the same line of Nlgn4 mutant mice at the National Institute of Mental Health in Bethesda, MD, USA and at the Institut Pasteur in Paris, France. Adult social approach was normal in all three genotypes of Nlgn4 mice tested at both sites. Reciprocal social interactions in juveniles were similarly normal across genotypes. No genotype differences were detected in ultrasonic vocalizations in pups separated from the nest or in adults during reciprocal social interactions. Anxiety-like behaviors, self-grooming, rotarod and open field exploration did not differ across genotypes, and measures of developmental milestones and general health were normal. Our findings indicate an absence of autism-relevant behavioral phenotypes in subsequent generations of Nlgn4 mice tested at two locations. Testing environment and methods differed from the original study in some aspects, although the presence of normal sociability was seen in all genotypes when methods taken from Jamain et al. (2008) were used. The divergent results obtained from this study indicate that phenotypes may not be replicable across breeding generations, and highlight the significant roles of environmental, generational and/or procedural factors on behavioral phenotypes.

Do age- and sex-related variations reliably reflect body size in non-human primate vocalizations? A review.

In vocal communication, the mechanisms of sound production are well understood. The length of the vocal folds determines the minimum fundamental frequency, while the size and the shape of the vocal tract affect its filtering characteristics and hence, the resonant frequencies. Both measures-vocal fold length and vocal tract length-are related to body size and therefore, acoustic features are expected to vary with body size. Because direct measures of body size are difficult to obtain from free-ranging animals, age and sex have often been used as proxies. We surveyed studies which included direct measures of size or weight, and also studies in which only age and/or sex differences were examined. The main purpose was to examine whether age- and sex-related variations in acoustic features meet the predictions generated from our knowledge about sound production. Our survey revealed that compared to smaller animals, larger animals utter longer calls, with a lower fundamental frequency, with smaller formant dispersion, and with the energy concentrated in lower frequencies. Age and sex reliably reflect the influence of body size on acoustic features when gross size differences are examined. However, within age- and sex classes, this relationship may break down. In addition to body size, other factors such as internal state or social context may also influence the structure of vocal signals and highlight the richness of information in calls that is potentially available to listeners.

Congenital subependymal giant-cell astrocytoma: case report with prenatal ultrasonogram.

BACKGROUND: A prenatal sonogram at 27 weeks of gestation revealed a brain mass along the frontal horn and body of the lateral ventricle near the foramen of Monro in the fetus. MATERIALS AND METHODS: A huge subependymal giant-cell astrocytoma was nearly totally resected at 11 days of age. RESULTS: There was no syndromic family history, but features substantiating the diagnosis of tuberous sclerosis were recognized at 4 years of age. CONCLUSION: The sonographic finding of a tumor in the region of the foramen of Monro should raise the suspicion of a subependymal giant-cell astrocytoma, a tumor characteristically associated with tuberous sclerosis.

Bony inlet stenosis as a cause of nasal airway obstruction.

Two cases of congenital bony stenosis of the nasal piriform aperture (anterior nares) are presented. Both patients experienced episodes of respiratory distress and clinical symptoms similar to those seen in patients with posterior choanal atresia. The underlying anatomic abnormalities in congenital bony inlet stenosis are quite different from those in choanal atresia and require different surgical approaches for correction. Computed tomography demonstrates in detail the underlying anatomic abnormality and allows differentiation of bony inlet stenosis from choanal atresia.

Thallium-201 uptake in a benign thymoma.

A 68-year-old woman was admitted with atypical angina. A chest radiograph showed an anterior mediastinal mass that was confirmed on CT. The mass was relatively avascular and separate from the heart and great vessels. She underwent stress thallium testing that demonstrated no exercise-induced ischemia; however, an abnormal focus of thallium activity was present in the anterior mediastinum on stress and redistribution images. Cardiac catheterization demonstrated a normal left ventriculogram, coronary arteries and thoracic aorta. Subsequent surgery and pathologic examination revealed the mass to be a benign thymoma arising in the right lobe of the thymus gland.