Ovarian involvement by the intra-abdominal desmoplastic small round cell tumor with divergent differentiation: a report of three cases.

Three girls, one 14 and two 15 years of age, with the recently described neoplasm that has been designated "intra-abdominal desmoplastic small round cell tumor with divergent differentiation," and ovarian involvement at presentation are described. In two cases the ovarian tumor was initially thought to be the primary neoplasm. In all cases there was extensive extraovarian tumor at the time of presentation. The ovarian involvement was bilateral in two cases and unilateral in the third. Microscopic examination showed prominent nodular growth within the ovaries. The tumors were characterized predominantly by nests of small cells with hyperchromatic nuclei and scant cytoplasm separated by a prominent desmoplastic stroma. A few tubules containing mucinous secretion were present in one case. On immunohistochemical staining many of the tumor cells stained positively for cytokeratin, epithelial membrane antigen, desmin, and vimentin. Staining for neuron-specific enolase was present in two cases but was conspicuous in only one of them. Leu-7 was expressed by the tumor cells in two cases, and S-100 protein by one, giving further support to the possibility of neuroectodermal differentiation within some of these neoplasms. The two cases studied by electron microscopy both showed frequent intercellular junctions, basal lamina, cytoplasmic filaments, and sparse, small dense granules of either neuroendocrine or lysosomal type. Paranuclear aggregates of filaments were found in one case and cellular processes were prominent in the other case. The differential diagnosis in these cases was extensive and included a number of small cell tumors that may involve the ovary, either primarily or secondarily, in young females. The desmoplastic small round cell tumor should be considered in such cases when the appearances on routine examination are consistent with the diagnosis, and appropriate immunohistochemical stains should be performed to confirm the diagnosis.     

Evidence for association and epistasis at the DAOA/G30 and D-amino acid oxidase loci in an Irish schizophrenia sample.

The D-amino acid oxidase (DAO) signaling pathway has been implicated in schizophrenia pathogenesis. This may be mediated through modulation of NMDA function by DAO, which is in turn activated by DAO activator (DAOA, formerly G72). Chumakov et al. (2002); PNAS 99: 13675-13680, identifying the novel schizophrenia susceptibility gene DAOA/G30 and a number of independent studies have since reported evidence of association between the DAOA and DAO genes and schizophrenia. However, at least two studies have failed to replicate the epistatic interaction between these loci described in the original report and there have been differences in the associated alleles/haplotypes reported at each locus. In this study, we performed association and epistasis analyses of the DAOA/G30 and DAO loci in a sample of 373 cases with DSM-IV schizophrenia/schizoaffective disorder and 812 controls from the Republic of Ireland. Corrected for the number of tests performed, we found evidence for association between markers at both genes and schizophrenia: DAOA/G30 (P = 0.005, OR = 1.34 (1.09, 1.65)) and DAO (P = 0.003, OR = 1.43 (1.12, 1.84). The data suggest that evidence for association at DAO (marker rs2111902) is more consistent than previously realized, particularly in Caucasian schizophrenia populations. We identified evidence for epistatic interaction between the associated SNPs at DAOA and DAO genes in contributing to schizophrenia risk (OR = 9.3 (1.4, 60.5). Based on these data, more systematic investigation of genes involved in DAO signaling is required.     

Malignant lymphoma and granulocytic sarcoma of the uterus and vagina. A clinicopathologic analysis of 27 cases

Twenty-five cases of malignant lymphoma of the uterine corpus or cervix and the vagina, and one case of granulocytic sarcoma of the cervix were analyzed. The patients typically presented with vaginal bleeding and a subepithelial mass without obvious ulceration or other epithelial abnormality. Twenty-one of the 27 tumors appeared to originate in the cervix, 4 in the vagina, and 2 in the endometrium. Seven of them were nodular lymphomas, 17 diffuse large cell, or "histiocytic" lymphomas, 1 was a Burkitt's tumor, and 2 were granulocytic sarcomas. Sclerosis was a prominent histologic feature in lymphomas of the cervix and vagina. Twenty-one patients had disease confined to a single extranodal site (Ann Arbor Stage IE), and six had lymph node or ovarian involvement (Stages IIE + IV). The overall actuarial 5-year survival was 73%. The survival of patients with Stage IE tumors was 89%, compared with 20% for patients with lymph node or ovarian involvement. None of the 12 patients with Stage IE lymphoma of the cervix or vagina who received definitive initial local treatment (surgical and/or radiation therapy) relapsed. Nodular lymphomas and diffuse lymphomas with a preponderance of large cleaved cells were more often localized and had a better prognosis than large or small noncleaved and immunoblastic types. Lymphoma of the lower female genital tract is a rare, but treatable malignancy, which must be distinguished microscopically from inflammatory lesions and nonlymphoid tumors arising in this site.     

Orofacial disease: update for the dental clinical team: 6. Complaints affecting particularly the lips or tongue

Certain lesions are exclusively or typically found in specific sites; these are discussed in this and the next two articles in this series.     

Human papillomavirus type 16 DMA in an odontogenic keratocyst

DNA was extracted from an odontogenic keratocyst and assayed for the presence of human papilloma virus (HPV) type 16 DNA sequences using high stringency Southern blot hybridization. HPV type 16 homologous DNA sequences were detected at a copy number of 50-100 genome copies per diploid cell. The oral HPV DNA was not identical to the prototype HPV 16 when cleaved with the restriction enzyme Pst-I, since it appeared to lack the Pst-I C fragment (L2/L1 ORFs) and contained "off-sized" high molecular weight fragments suggestive of integration events into the host cell chromosome.     

Le syndrome de Smith-Magenis

Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophtalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.     

Pharyngolaryngeal, neck, and jaw discomfort after anesthesia with the face mask and laryngeal mask airway at high and low cuff volumes in males and females

BACKGROUND: There is controversy over (1) the relative incidence of sore throat between the face mask (FM) and laryngeal mask airway (LMA), (2) the efficacy of LMA intracuff pressure reduction as a mechanism for minimizing sore throat, and (3) the relative incidence of sore throat with the LMA between males and females. In a randomized double-blind study, the authors compared laryngopharyngeal, neck, and jaw discomfort with the FM and LMA at high and low cuff volumes in males and females. METHODS: Three hundred adult patients were randomly assigned to three equal-sized groups for airway management: (1) the FM, (2) the LMA with a fully inflated cuff (LMA-High), or (3) the LMA with a semi-inflated cuff (LMA-Low). Anesthesia was administered with propofol, nitrous oxide, oxygen, and isoflurane. In the FM group, a Guedel-type oropharyngeal airway and jaw thrust were used only if necessary. In the LMA groups, cuff inflation was achieved with either 15 or 30 ml for the size 4 (females) and 20 or 40 ml for the size 5 (males). The LMA was removed when the patient was awake. Patients were questioned 18-24 h postoperatively about surgical pain, sore throat, sore neck, sore jaw, dysphonia, and dysphagia, and about whether they were satisfied with their anesthetic. RESULTS: The incidence of sore throat was lower in the FM (8%) than the LMA-High (42%) and LMA-Low (20%) groups (both: P < or = 0.02). The incidence of sore neck was higher for the FM (14%) than the LMA-High group (6%; P = 0.05) but similar to the LMA-Low group (8%). The incidence of sore jaw was higher in the FM (11%) than the LMA-High (3%) and LMA-Low (3%) groups (both: P = 0. 02). There were no differences among groups for surgical pain or dysphonia. The incidence of dysphagia was lower in the FM (1%) than the LMA-High group (11%; P = 0.003), but similar to the LMA-Low group (1%). The incidence of sore throat and dysphagia was lower in the LMA-Low group than the LMA-High group for both males and females (all: P < or = 0.04). There were no differences in discomfort levels between males and females in any group. Two patients from the FM group and one from the LMA-High group were not satisfied with their anesthetic. These complaints were unrelated to postoperative morbidity. CONCLUSION: The LMA causes more sore throat and dysphagia but less jaw pain than the FM. Sore throat and dysphagia are more common with the LMA if the initial cuff volume is high. There are no differences in discomfort levels between males and females. However, these discomforts do not influence patient satisfaction after LMA or FM anesthesia.