Lymphoepithelioma-like carcinoma of the skin: A light-microscopic and immunohistochemical study

Cutaneous carcinoma histopathologically resembling nasopharyngeal carcinoma has been termed lymphoepithelioma-like carcinoma of the skin. We present an additional example of this rare cutaneous neoplasm that was located on the left temple of an 83-year-old woman. Serology for Epstein-Barr virus was negative, and exploration of the nasopharyngeal region disclosed no abnormalities. Histopathologically, the neoplasm consisted of a relatively well-circumscribed, dermal-hypodermal nodule composed of irregular aggregates of epithelial cells with vesicular nuclei, some of them in mitosis, and scant cytoplasm. A dense lymphocytic infiltrate was present within the neoplastic aggregates, obscuring the epithelial component, and at scanning magnification, the lesion closely resembled cutaneous lymphoma or pseudolymphoma. There was local sebaceous differentiation. Immunohistochemistry showed positivity in the epithelial component for AE1/AE3 and AEB-903 cytokeratins and negativity for 8–18 cylokeratins. The inflammatory infiltrate was positive for leukocyte common antigen, UCHL-1, L-26, Leu-22, and OPD-4 in variable proportions. Scattered cells within this inflammatory infiltrate were also positive for S-100 protein, vimentin, HAM-56, and MAC-387. In situ hybridization investigations for the presence of Epstein-Barr virus genomic DNA yielded negative results. Lymphoepithelioma-like carcinoma of the skin is a distinct cutaneous neoplasm of unknown histogenesis, although some foci of adnexal differentiation have been found in some specimens. The possibility of cutaneous metastasis from occult nasopharyngeal carcinoma should be ruled out.
Requena L, Sánchez Yus E, Jiménez E, Roo E. Lymphoepithelioma-like carcinoma of the skin: A light-microscopic and immunohistochemical study.     

Multiple sclerosis: genetic versus environmental aetiology: epidemiology in Israel updated

The incidence and prevalence of multiple sclerosis (MS) were compared, controlling for age, in native-born Israelis of different origins and in immigrants to Israel. This comparison was carried out in two populations, countrywide and in Jerusalem. In the countrywide population, ascertainment was based mainly on hospitalizations; it included 252 patients who were native-born and 150 who had immigrated from Africa-Asia (AA immigrants). The 89 MS patients of Jerusalem also included patients diagnosed in outpatient clinics. In native-born Israelis whose father was born in Europe-America (I-EA), the incidence and prevalence of MS were found to be as high as or even higher than that found previously in immigrants from Europe-America. Among native-born Israelis whose father was born in Africa or Asia (I-AA), the yearly age-adjusted incidence and prevalence rates were found to be 1.4- to 1.8-fold higher than among AA immigrants, pointing to environmental factors. The incidence and prevalence rates in the I-EA were 1.2- to 1.6-fold higher than in the I-AA, pointing to genetic factors. These results seem to point to both environmental and genetic factors in the aetiology of MS. Further research is needed, however, to disentangle the genetic factors from possible environmental differences in the two ethnic groups.     

Patient expectations and satisfaction with medical care for upper respiratory infections

To describe the determinants of patient satisfaction with medical care, self-administered questionnaires were given to a consecutive sample of 237 patients coming to an ambulatory care practice for the treatment of upper respiratory infections (URIs). Patients' most important goal was to obtain a diagnosis (57%). They usually got more reassurance, medication, and personal interest than they had expected (p = 0.0001). In a multivariate model, patients' satisfaction was related to the degrees of personal interest and reassurance they had received and to whether they felt they had received the right medication (r2 = 0.45, p = 0.0001). The authors concluded that patients with URIs generally want a diagnosis but are primarily satisfied by the personal interest, the reassurance, and the medication they receive.     

KCNJ2 mutations in arrhythmia patients referred for LQT testing: A mutation T305A with novel effect on rectification properties

BACKGROUND: Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features. Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS? OBJECTIVES: The purpose of this study was to identify and characterize mutations in the KCNJ2-encoded inward rectifier potassium channel Kir2.1 from patients referred for genetic arrhythmia testing. METHODS: Mutational analysis of KCNJ2 was performed for 541 unrelated patients. The mutations were made in wild type (WT) and expressed in COS-1 cells and voltage clamped for ion currents. RESULTS: Three novel missense mutations (R67Q, R85W, and T305A) and one known mutation (T75M) were identified in 4/249 (1.6%) patients genotype-negative for other known arrhythmia genes with overall incidence 4/541 (0.74%). They had prominent U-waves, marked ventricular ectopy, and polymorphic ventricular tachycardia but no facial/skeletal abnormalities. Periodic paralysis was present in only one case. Outward current was decreased to less than 5% of WT for all mutants expressed alone. Co-expression with WT (simulating heterozygosity) caused a marked dominant negative effect for T75M and R82W, no dominant negative effect for R67Q, and a novel selective enhancement of inward rectification for T305A. CONCLUSIONS: KCNJ2 loss of function mutations were found in approximately 1% of patients referred for genetic arrhythmia testing that lacked criteria for ATS. Characterization of three new mutations identified a novel dominant negative effect selectively reducing outward current for T305A. These results extend the range of clinical phenotype and molecular phenotype associated with KCNJ2 mutations.     

Bilateral pleural effusion and ascites in the ovarian hyperstimulation syndrome.

We describe a pregnant woman with ovarian hyperstimulation syndrome with bilateral pleural effusion and ascites. Ovarian hyperstimulation syndrome is an iatrogenic complication of ovarian stimulation, characterized by a massive crossing of a protein-rich fluid from the vascular compartment into the peritoneal, pleural, or to a lesser extent, pericardial cavities. Management is usually conservative, with fluid and electrolytes correction and thromboprophylaxis. Prevention is very difficult, but an age younger than 35 years, low body mass index, polycystic ovarian disease, a high number of follicles, a high plasma oestradiol concentration, pregnancy, hyperandrogenism, and hypothyroidism are predisposing factors.