Long-term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis.

We report a 38-month-old Japanese male with premature chromatid separation/mosaic variegated aneuploidy syndrome bearing biallelic BUB1B germline mutations who suffered from bilateral Wilms tumor. After right nephrectomy, dactinomycin monotherapy was administered for the left Wilms tumor; however, severe adverse reaction prevented the patient from receiving further chemotherapy. Left nephrectomy was then performed without postoperative chemotherapy. The patient survived for 15 months after bilateral nephrectomy without peritoneal relapse, metastasis of Wilms tumor, or the occurrence of rhabdomyosarcoma and maintained a good quality of life while receiving peritoneal dialysis at home.

Layer modulated smectic-C phase in liquid crystals with a terminal hydroxyl group.

We investigated local layer structures of the three smectic-C phases (SmC, SmC', and SmC″) in a liquid crystal with the terminal hydroxyl group using high resolution and microbeam x-ray diffraction. It is found that SmC is the conventional SmC1 phase and SmC″ is the bilayer SmC2 phase. The SmC' phase forms an in-plane modulation structure, so that this phase is the smectic-C antiphase. From the Fourier transform infrared spectroscopy, it is suggested that the intermolecular hydrogen bonding is important to induce the SmC' and SmC″ phases.

Anomaly of pretransitional behavior at the nematic-smectic-A phase transition of amphiphilic liquid crystals with a hydrophilic group.

In order to clarify the origin of the X-ray diffraction peak corresponding to the smectic-like layer ordering appearing even in the nematic phase over a wide temperature range above the nematic-smectic A (NA) phase transition in liquid crystal (LC) molecules with a hydroxy group, we investigated the critical behavior of bend elastic constants and the correlation length of the smectic-like ordering in the N phase. It is found that cybotactic clusters with the transient layer ordering grow up extremely even far above the NA phase transition, and the critical exponent of the correlation length of the cybotactic clusters is estimated anomalously larger than that of conventional LC materials. Furthermore, we measured diffusion constants parallel and perpendicular to the director in the N phase, and concluded that cybotactic clusters with the smectic layer ordering create a finite potential barrier to prevent diffusion of the molecules parallel to the director as well as the true smectic A layer structure.