Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype.

We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome. Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition.

Effects of different serotypes of Escherichia coli lipopolysaccharides on body temperature in rats.

The effects of Escherichia coli O55:B5, O127:B8, and O111:B4 serotypes' lipopolysaccharides (LPS) on body temperature were investigated in rats. LPSs were injected intraperitoneally at doses of 2, 50, and 250 microg/kg. A multiphasic and no-dose dependent increase in rectal temperature was observed in response to E. coli O55:B5 LPS at all doses, and in response to E. coli O127:B8 LPS at 2 and 50 microg/kg doses. The highest dose of the latter caused a dual change in rectal temperature, in which hypothermia preceded fever. E. coli O111:B4 LPS was either pyrogenic or hypothermic at 2 and 250 microg/kg doses; respectively, whereas a dual response was observed when the 50 microg/kg dose was injected. Although dual responses were observed after administration of all LPSs at 50 microg/kg dose when the body temperature was recorded by biotelemetry, the hypothermia induced by E. coli O55:B5 LPS was significantly smaller. These data suggest that LPSs induce dose and serotype-specific variable changes on body temperature in rats. This variability may be related to the structure of LPSs. The data also indicate that LPS causes hypothermia with or without fever in rats.

Candida albicans and Saccharomyces cerevisiae cell wall mannans produce fever in rats: role of nitric oxide and cytokines.

Mannan components of C. albicans (5 mg/kg, i.p.) and S. cerevisiae (2.5 mg/kg, i.p.) cell walls produced pyrogenic responses which were completely inhibited by indomethacin (5 mg/kg, s.c.) pretreatment in rats. A non-selective NOS inhibitor, L-NAME (10 mg/kg, s.c.), also inhibited the pyrogenic effectiveness of C. albicans mannan, whereas it was ineffective on the fever induced by S. cerevisiae mannan. A selective elevation in the serum TNF-alpha levels was observed at the initial phase of the fever due to S. cerevisiae mannan, whereas there was no significant change on the serum levels of TNF-alpha, IL-1beta and IFN-gamma during the latent period or at the initial phase of the fever induced by C. albicans mannan. Injections of N-linked and/or O-linked oligomannosides of the either mannan did not cause any significant change in the body temperature and serum cytokine levels. These data suggest that the mannan components of C. albicans and S. cerevisiae cell walls produce a prostaglandin-dependent fever in rats. The initial signal for fever seems to be different for each mannan. Data also indicate that integrity of the mannans is necessary for the pyrogenic response.

Polysaccharide mannan components of Candida albicans and Saccharomyces cerevisiae cell wall produce fever by intracerebroventricular injection in rats.

The cell wall mannan components of Candida albicans and Saccharomyces cerevisiae produced hyperthermic responses when injected intracerebroventricularly at doses of 10 microg in rats. Indomethacin treatment (5 mg/kg subcutaneously) completely abolished these responses. Serum interferon-gamma, tumor necrosis factor-alpha and interleukin-1beta levels showed an upward trend during the initial phase of the hyperthermic response induced by S. cerevisiae mannan. Meanwhile, serum levels of these proinflammatory cytokines did not increase at all at the initial phase of C. albicans mannan-induced hyperthermia. Histopathological examination of the brain tissue samples revealed no specific change throughout the parenchyma of rats given either mannan. These results indicate that the polysaccharide mannan components of yeasts, regardless of the pathogenicity, produce a pyrogenic response by a direct injection into the brain in rats. This response is not accompanied by proinflammatory cytokine induction in the periphery.