Papillary cystadenoma of a minor salivary gland: report of a case involving cytological analysis and review of the literature

A 91-year-old man presented with an asymptomatic swelling in the roof of his mouth. Clinically the lesion was nontender and appeared cystic. A CT scan showed a soft tissue swelling of his palate with no bony involvement. An orthopantogram and blood tests were noncontributory. A fine-needle aspiration biopsy was suggestive of a minor salivary gland neoplasm. An excision biopsy showed papillary cystadenoma of the minor salivary gland, with numbers of psammoma bodies. A stepwise approach is demonstrated in the diagnosis of this rare minor salivary gland neoplasm. To the authors' best knowledge, this is the 12th case of this tumor seen in the palate. Furthermore, no previous case has included a fine-needle aspiration biopsy in the work-up, the cytological features of which will be described.     

The interface between phonetic and lexical abilities in early Cantonese language development

Data from the Cantonese Communicative Development Inventory (CCDI) is used to review the phonological preferences of younger (16–22 months) and older (23–30 month) groups of children in the lexical items they are reported to be able to say. Analogous results to those found for English emerge from the Cantonese data: the younger group display selectivity in the initial consonants of words they say, and their preferences accord with developmental tendencies in Cantonese phonology. From children whose scores fell below the tenth percentile of the CCDI, a subset were followed up 1 year later and their linguistic progress evaluated. Only a proportion of these children were below still below the tenth percentile for vocabulary at follow‐up. Their lexical immaturities were accompanied by limited phonetic abilities. The implications of the findings are discussed.     

A role for CNS α-2 adrenergic receptors in opiate-induced muscle rigidity in the rat

A number of potential neurochemical mediators of opiate-induced muscle rigidity have been proposed based on the results of systemic drug studies and on knowledge of the brain sites implicated in opiate rigidity. The effects of i.c.v. pretreatment with selected opioidergic, α adrenergic and serotonergic drugs on muscle rigidity induced with systemic injection of the potent opiate agonist alfentanil (ALF) were investigated in spontaneously ventilating rats. The opiate antagonist methylnaloxonium (MN; 0.2–14 nmol), α-2 adrenergic agonists dexmedetomidine (DEX; 0.4–42 nmol) or 2-(2,6-diethylphenylamino)-2-imidazoline hydrochloride (ST91; 4–400 nmol), α-1 adrenergic antagonist prazosin (PRZ; 7–70 nmol) or serotonergic antagonist ketanserin (KET; 18–550 nmol) were injected i.c.v. (10 μl) and ALF (500 μg/kg s.c.) was administered 10 min later. S.c. electrodes were used to record gastrocnemius electromyographic activity. Both MN and DEX dose-dependently and potently antagonized ALF-induced rigidity. ST91 produced shorter-lived, less profound, antagonism of ALF rigidity. PRZ, at the highest dose tested, produced a delayed and modest reduction in ALF rigidity. A large, non-selective, dose of KET incompletely attenuated ALF rigidity. These results lend support to the hypothesis that central opioid and α-2 adrenergic receptors mediate opiate-induced muscle rigidity in the rat.     

Genetic association signal near NTN4 in Tourette syndrome

Tourette syndrome (TS) is a neurodevelopmental disorder with a complex genetic etiology. Through an international collaboration, we genotyped 42 single nucleotide polymorphisms (p < 10⁻³) from the recent TS genomewide association study (GWAS) in 609 independent cases and 610 ancestry‐matched controls. Only rs2060546 on chromosome 12q22 (p = 3.3 × 10⁻⁴) remained significant after Bonferroni correction. Meta‐analysis with the original GWAS yielded the strongest association to date (p = 5.8 × 10⁻⁷). Although its functional significance is unclear, rs2060546 lies closest to NTN4, an axon guidance molecule expressed in developing striatum. Risk score analysis significantly predicted case–control status (p = 0.042), suggesting that many of these variants are true TS risk alleles. Ann Neurol 2014;76:310–315     

A strabismus susceptibility locus on chromosome 7p

Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis of nonsyndromic strabismus. The principal results of this study are: (i) the demonstrated feasibility of identifying and recruiting large families in which multiple members have (or had) strabismus; (ii) the linkage in one large family of a presumptive strabismus susceptibility locus to 7p22.1 with a multipoint logarithm of odds score of 4.51 under a model of recessive inheritance; and (iii) the failure to observe significant linkage to 7p in six other multiplex families, consistent with genetic heterogeneity among families. These findings suggest that it will be possible to localize and ultimately identify strabismus susceptibility genes by linkage analysis and mutation screening of candidate genes.     

Galaxy: a platform for interactive large-scale genome analysis

Accessing and analyzing the exponentially expanding genomic sequence and functional data pose a challenge for biomedical researchers. Here we describe an interactive system, Galaxy, that combines the power of existing genome annotation databases with a simple Web portal to enable users to search remote resources, combine data from independent queries, and visualize the results. The heart of Galaxy is a flexible history system that stores the queries from each user; performs operations such as intersections, unions, and subtractions; and links to other computational tools. Galaxy can be accessed at http://g2.bx.psu.edu.