Intercellular adhesion molecule-1 gene polymorphisms in Beh?et's disease.

Intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms have been implicated in the susceptibility to inflammatory diseases, including multiple sclerosis and inflammatory bowel disease. The expression of both soluble and tissue ICAM-1 is increased in Beh?et's disease (BD) but the contribution of ICAM-1 gene polymorphisms to this disease remains unknown. Associations with BD have been reported for genes within the MHC, including HLA-B51, TNF and MICA, but the role of non-MHC genes in BD remains largely unexplored. We have investigated the frequency of the R/G 241 and K/E 469 ICAM-1 gene polymorphisms in 83 patients with BD disease and 103 healthy controls, all of Palestinian and Jordanian descent, and demonstrated an association between BD and the ICAM-1 E469 allele (Pc = 0.046, OR = 2.1). Among patients, no association was found between the presence of ocular disease and ICAM-1 polymorphisms. While the functional correlate of this polymorphism remains unclear, this finding indicates that a genetic polymorphism in the ICAM-1 gene domain, which is independent of the MHC, may contribute to disease.     

Cerebral infarct in patients with hemorrhagic shock and encephalopathy syndrome

The syndrome of hemorrhagic shock and encephalopathy (HSE) was first described by Levin et al. in 1983 [1] but not until recently has it been considered to be a newly identified devastating disorder [2, 3]. The main features of this syndrome consist of sudden onset of shock, coma, convulsions, coagulopathy, renal and hepatic dysfunction. The mortality rate is very high with surviving patients suffering from severe neurologic sequelae [4]. In review of the literature [1], we did not find any reports of cerebral infarcts. Recently we managed two patients with this syndrome, both of whom had CT scand findings consistent with cerebral infarctions.     

Intraventricular ganglioglioma: a short illustrated review

The following review of the literature describes the ganglioglioma, an uncommon mixed glioneuronal neoplasm, most often of low-grade histology, with a small, albeit well-documented, malignant potential. These tumors exhibit a strong epileptogenic propensity and most often present as new onset seizures or are discovered after a long history of refractory epilepsy. Despite their indolent course, the importance of gross total resection is well recognized to prevent anaplastic and malignant degeneration. Morphologically, the neoplasm is often cystic with an enhancing mural nodule, but can also be entirely solid. They are most often found in the temporal lobe but have been found throughout the neuraxis. An exceedingly rare location of the ganglioglioma is within the lateral ventricle. A systematic literature search revealed only eight reports documenting the occurrence of a ganglioglioma within the lateral ventricle. We describe an illustrative case of an intraventricular ganglioglioma with a prominent cystic component and enhancing mural nodule, which represents the classic radiographic appearance of gangliogliomas described in other locations. A superior parietal lobule approach offered excellent surgical access for tumor removal and the patient has remained free of neurological deficits following surgery. Regardless of location within the central nervous system, ganglioglioma should be on the differential diagnosis for any cystic mass with a mural nodule, particularly in the setting of epilepsy.     

Are Patients With Twin‐Twin Transfusion Syndrome and a Very Short Cervix Candidates for Laser Surgery?

Objectives. The purpose of this study was to determine the relationship between cervical length (CL) and perinatal outcomes in cases of twin‐twin transfusion syndrome (TTTS) treated with laser surgery and to assess whether patients with a very short cervix (0.5–1.9 cm) are appropriate candidates for laser surgery. Methods. All women who underwent laser surgery for TTTS from March 2006 to April 2008 at the study institution were evaluated consecutively. Patients were grouped according to pre‐operative CL: greater than 2.5, 2 to 2.5, and 0.5 to 1.9 cm. The gestational age at delivery, latency from laser surgery to delivery, and 30‐day neonatal survival were documented prospectively and compared among these groups. Results. The 99 women in the study population were grouped by CL: greater than 2.5 cm (n = 76), 2 to 2.5 cm (n = 13), and 0.5 to 1.9 cm (n = 10). For these groups, the median gestational ages at delivery were 34, 32.29, and 31.86 weeks, respectively (P = .411). The median latencies from laser surgery to delivery were 12.79, 11, and 11.07 weeks (P = .424). The frequency rates of at least 1 surviving twin were 69 of 76 (91%), 13 of 13 (100%), and 8 of 10 (80%) (P = .254). Finally, dual survivors were observed in 54 of 76 (71%), 12 of 13 (92%), and 5 of 10 (50%) (P = .08). Conclusions. In cases of TTTS complicated by a very short cervix (0.5–1.9 cm), treatment with laser surgery resulted in perinatal outcomes that were sufficiently favorable to justify the surgery, suggesting that these patients should not be excluded from undergoing laser surgery for TTTS.     

Lentiginous macules and patches of neurofibromatosis (an approach to better terminology)

BACKGROUND AND OBJECTIVES: Freckles (ephelides) are small, light brown macules of sun-exposed areas in fair-skinned subjects. On the other hand, freckle-like pigmentation of the axilla is a highly characteristic feature of neurofibromatosis. To what extent (clinically and pathologically) are the two pigmentary defects similar? And to what extent are café-au-lait patches and freckle-like lesions similar pathologically? SUBJECTS AND METHODS: Ten cases of neurofibromatosis and 10 cases of freckles were examined clinically. Two biopsies were taken from the former; one obtained from an axillary freckle-like lesion, and the other from a café-au-lait patch. One biopsy only was taken from freckles. The biopsies were processed for haematoxylin and eosin, silver stain and transmission electron microscopy. RESULTS: Obvious differences were detected between freckles (ephelides) and freckle-like lesions in cases of neurofibromatosis. Café-au-lait patches and freckle-like lesions showed the same pathological changes of lentigo simplex, with increased melanin pigment from the basal layer up to the stratum corneum, moderate elongation of the rete ridges and mild inflammatory infiltrate intermingled with melanophages. Electron microscopy revealed an increase in melanocyte number and the presence of giant melanin granules in freckle-like pigmentation as well as café-au-lait patches. These ultrastructural freckles (ephelides) showed an increase in activity but not the number of melanocytes. CONCLUSIONS: The term freckle-like should be changed to lentiginous macules of neurofibromatosis. On the other hand, the café-au-lait patches should be considered as lentiginous patches. Freckles should be restricted to sun-exposed areas in fair-skinned persons only.     

Pharmacokinetics of methotrexate and its 7-OH metabolite in cancer patients treated with different high-methotrexate dosage regimens

The pharmacokinetics of methotrexate (MX) and 7-OH methotrexate (MXOH) was studied in 18 cancer patients treated with 6-hr intravenous (i.v.) infusion of 100 mg/kg (A), 80 mg/kg preceded by 20 mg/kg i.v. loading dose (B), and 70 mg/kg preceded by 30 mg/kg i.v. loading dose (C). Simultaneous analysis of MX and MXOH was performed by high-performance liquid chromatography. The data for MX conformed to a 2-compartment model with overall mean +/- SD for beta, k12, k21, and k13 of 0.225 +/- 0.196, 1.33 +/- 1.44, 0.954 +/- 1.06, and 0.994 +/- 1.28 hr-1, respectively. The total body clearance, Vc, and V-beta were 0.123 +/- 0.037 l/hr.kg, 0.15 +/- 0.122 l/kg, and 0.965 +/- 0.875 l/kg, respectively. No significant differences (p greater than 0.05) in these parameters, attributable to the difference in regimens, were observed. With regimens A, B and C, the maximum observed concentrations of MXOH occurred at 9.2, 11.5, and 9.2 hr and the mean +/- SD values of these concentrations were 15.02 +/- 14, 18.96 +/- 13.63, 14.91 +/- 9.95 microM, respectively. With regimens A and C, maximum observed concentrations of MX equal to 231 +/- 67.1 and 204 +/- 69.5 microM occurred at 0.5 and 6 hr, respectively. Only with regimen B was a steady-state MX concentration of 179 microM achieved throughout infusion; this regimen is therefore highly advantageous for high-dose MX treatment.     

Cellular immunity to collagen in periodontal disease: role of T, B lymphocytes and adherent cells

Peripheral blood lymphocytes of patients with periodontal disease and control subjects were fractionated into T enriched and B enriched lymphocyte populations and plastic adherent cells (PACs). T enriched and B enriched lymphocytes were cultured: (a) with human Type I collagen with varying concentrations of PACs and (b) without collagen, but with cells or supernatants from autologous and heterologous PACs which had been previously cultured with and without collagen. In patients with periodontal disease, both T enriched and B enriched blastogenic responses were higher than in control subjects, but B enriched cell responses of patients were highest. The addition of PACs had no significant effect upon the enriched T cell responses to collagen; the B enriched cell responses were enhanced in the presence of PACs, the maximum response occurring with the addition of approximately 10% PACs. T enriched cells did not appear to respond to the collagen co-cultured PACs or PAC supernatants; B enriched cells responded maximally to PACs co-cultured with collagen. Autologous PACs, co-cultured with collagen, induced higher responses than heterologous PACs similarly treated.