Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

Bone marrow transplantation was carried out on 38 patients with mucopolysaccharidosis type I over a period of 15 years. The donor was an HLA identical relative in 10 cases, an HLA non-identical relative in 16 cases, and an HLA identical unrelated volunteer donor in 12 cases. Ten patients received a second transplant. One patient received three transplants. Thirteen engrafted patients have survived five years or more. Most patients have shown an arrest or slowing down of psychomotor regression. However, dysostosis multiplex has progressed. Careful selection of patients may be necessary to ensure optimum results.     

Abnormal technetium labelled white cell scan in the colitis of chronic granulomatous disease

A child with colitis was treated for Crohn's disease, diagnosed on history, clinical and colonoscopic findings, radiolabelled white cell bowel scan, and colonic histology. After septicaemia caused by an unusual organism, further investigation lead to a diagnosis of chronic granulomatous disease (CGD). The granulomatous colitis of CGD is clinically, histologically, and on white cell scanning, indistinguishable from that in Crohn's disease and should be considered in atypical cases. Infection with unusual 'pseudomonads' should prompt the exclusion of this disorder.     

Resistance to chemically-induced mammary tumors in Copenhagen X nude- derived F2 athymic rats: evidence that T-cell immunity is not involved in Copenhagen resistance

Resistance to chemically-induced mammary tumors in the Copenhagen rat is well defined, but the mechanism of resistance has yet to be determined. We have tested whether or not Copenhagen rat resistance is dependent on T-cells, since several lines of evidence supported an involvement of the immune system. We crossed Copenhagen rats with an athymic nude rat to produce F1s, that were interbred to produce F2 animals, some of which were athymic with partial Copenhagen rat background. A comparison of the mammary tumor incidences between the nude athymic F2 animals and their non-nude littermates allowed us to determine what role, if any, T-cells played in resistance. Following treatment with N-methyl-N-nitrosourea, we observed no difference in the tumor incidences between the two groups. Furthermore, the mammary tumor incidences in the F2 nude and non-nude animals was almost zero. These results indicate that T-cells are not involved in Cop resistance, and that nude rats are resistant to N-methyl-N-nitrosourea-induced mammary tumorigenesis.      

Designing criteria to handle diabetes patients as a strategy for quality assurance

This study was carried out at the General Hospital of Zone N masculine 14 of the IMSS in Jalisco, Mexico, with the goal of designing standardized criteria to handle hospitalized diabetes patients, as a strategy for quality assurance, through the participation of a panel of experts in internal medicine from the hospital. Participation by the attending physician in designing criteria generates a sense of belonging in the staff and makes adherence and application easier. The suggested criteria are subject to further improvement and are not intended for universal application, but to the extent that they have been useful in patient care they have far surpassed the authors' expectations when the goals of this research were originally established.     

Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature

Low level chromosome mosaicism found at amniocentesis is problematic for clinicians and patients. We report prenatal diagnosis of a fetus with a rare karyotype of 47.XX, + 15/46, XX. Second trimester amniocentesis was performed for advanced maternal age. Fetal ultrasound revealed a hypoplastic right ventricle and intrauterine growth retardation (IUGR). The rest of the fetal anatomy was within normal limits. A mosaic karyotype of 47.XX, + 15/46, XX was observed. The couple interrupted the pregnancy at 19 weeks by dilation and suction evacuation. Careful evaluation of multiple pieces of fetal parts and placenta revealed one abnormal finding: a single umbilical artery. Cytogenetic metaphase and fluorescent in situ hybridization (FISH) interphase analyses of cells from fetal lung, heart, placenta, and skin revealed the presence of the trisomic line in all tissues. Molecular analysis demonstrated that the origin of the extra chromosome 15 was maternal, the error most likely occurred in meiosis I and the diploid line was of biparental inheritance. This case report discusses the associated findings in this fetus and reviews the literature describing other cases of mosaic trisomy 15.     

The supplementation of culture medium with protease improves the hatching rate of mouse embryos

Mammalian embryos are known to exhibit delayed development and have lower hatching rates in vitro than in vivo because of inadequate culture condition. These discrepancies may be due to a deficiency of the paracrine factors and proteolytic enzymes which exist in the oviduct and uterus. In order to evaluate the effects of proteases on embryonic development and hatching, 2-cell mouse embryos were cultured for 72 h with or without proteases. The addition of 1.0 microg/ml pronase (PE) and/or 0.1 microg/ml proteinase K (PK) did not affect embryonic development up to the blastocyst stage (94.1% versus 88.2%; 92.2% versus 90.2%, respectively) but significantly increased the hatching rate (60.4% versus 39.2%, 71.8% versus 35.3%, respectively). However, the addition of alpha-chymotrypsin (Chymo) was detrimental to embryonic development and hatching. Changes in the structure of the zona pellucida (ZP) structure of embryos which had been cultured in human tubal fluid (HTF) medium with PE and PK were assessed by fluorescein isothiocyanate-conjugated (FITC)-casein. Embryos cultured in HTF-PE and PK were not stained with FITC-casein. When these embryos were cultured within oviducts, their perivitelline space (PVS) became strongly stained with FITC-casein which was easily removed by phosphate- buffered saline washing. This suggests that PE and PK altered the structure of the ZP. We suggest that the addition of PE and PK to culture media may accelerate the hatching of embryo, by structurally altering the ZP and PVS. This may provide a valuable and effective assisted hatching technique for human in-vitro fertilization-embryo transfer.