Despite the high rate of CMV DNA in breast milk, symptomatic infections in the preterm infants did not occur. These results might be associated with the method of breast milk preservation and the population we studied. CMV infections transmitted via breast milk feeding did not have much impact on preterm infants in our institutes.

Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C4T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.

Objective: We prospectively evaluated the rate of postnatal cytomegalovirus (CMV) transmission through breast milk in extremely premature infants to address the impact of CMV infection on preterm infants during lactation.Study Design: A total of 25 mothers and 27 infants (two sets of twins) with birth weights <1000 g and/or gestational ages <28 weeks were enrolled in the study. They were mostly fed frozen-thawed breast milk. Breast milk, serum and urine samples were collected every 2 weeks and screened for CMV infection using the real-time polymerase chain reaction.Result: All of the 21 CMV-seropositive mothers had detectable CMV DNA in their breast milk, with a peak at 4 to 6 weeks postpartum. CMV infection was confirmed in only one infant (4.3%) who displayed almost no clinical symptoms. Conclusion:At our institutes, we mainly use frozen-thawed breast milk. We found low CMV transmission rates even in extremely premature infants, and the CMV-positive infant did not develop serious symptoms.

In this study we examined the potential of a novel thermoreversible gelation polymer (TGP) to act as a 3-D hydrogel scaffold and deliver both chondrocytes and growth factors. Chondrocytes obtained from bovine articular cartilage were studied as a suspension in TGP chilled to 4 degrees C, in the presence or absence of the growth factors IGF-1 and/or TGF beta2. The cold cell/aqueous suspensions were injected into a cylindrical mold and cultured at 37 degrees C for up to 16 weeks. Specimens obtained at 12 and 16 weeks were semitranslucent and elastic. The matrices surrounding the chondrocytes were histologically positive to Safranin-O staining and type II collagen staining. The glycosaminoglycan and hydroxyproline contents in the specimens increased as a function of time and because of the presence of growth factors; those cultured with growth factors produced significantly more of these substances than those cultured without. We have concluded that TGP has potential as a scaffold material in the generation of tissue-engineered cartilage in vitro.