Efficient modification of intracytoplasmic sperm injection technique for cases with total lack of sperm movement

A rapid, simple and efficient method for selecting living spermatozoa for intracytoplasmic sperm injection (ICSI) in cases with total lack of sperm movement is described. The selection is based on a characteristic deformation of living spermatozoa exposed to hypo-osmotic conditions during short sequential exposures to modified culture medium and polyvinylpyrrolidone solution; the osmolarity of both of these solutions is reduced by one half by diluting them with an equal amount of water. The application of the sperm viability selection step in six ICSI treatment cycles with total absence of sperm movement resulted in a fertilization rate of 41.9% and the establishment of two ongoing clinical pregnancies. The method described for the selection of living spermatozoa makes it possible to reach acceptable fertilization rates and to obtain ongoing pregnancies by ICSI in cases with total lack of sperm movement. Because of its simplicity, this method can easily be improvised when the total lack of sperm movement is an unexpected finding made on the day of the planned ICSI.      

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

We describe a G-->A transition within intron 5 of the NF2 gene. This mutation creates a consensus splice branch point sequence. To our knowledge this is the first report of a mutation that creates a functional branch point sequence in a human hereditary disorder. The new branch point sequence is located 18 bp upstream of a consensus splice acceptor site. A consensus splice donor site is found 106 bp 3' of the acceptor site. Asa consequence the G-->A transition results in an alternatively spliced mRNA containing an additional exon 5a of 106 bp derived from intron sequences. We cloned the mutant cDNA and show that due to an in-frame stop codon the cDNA codes for a truncated NF2 protein. The mutation was observed in three affected members of an NF2 family. In a tumour of one of the family members both alternatively spliced and wild-type mRNA were found, although the wild-type allele of the gene is absent due to an interstitial deletion on chromosome 22. We also show that immunoprecipitations reveal the presence of full-length wild-type NF2 protein in the tumour lysate. These data support the hypothesis that some degree of normal splicing of the mutant precursor RNA is taking place. It is therefore likely that this residual activity of the mutant allele explains the relatively mild phenotype in the family. These data also indicate that complete inactivation of the gene is not required for tumour formation.      

Immunological Studies of Patients with Down's Syndrome

Abstract. Recurrent diarrhoea and weight loss in many adult patients with Down's syndrome (DS), initiated a search for malabsorption based on determination of serum IgG and IgA antibody levels to dietary antigens. The results were compared with measurements of autoantibodies and serum zinc levels. DS patients had increased IgG and IgA activities to gluten proteins, casein and ovalbumin compared with an age- and sex-matched group of other mentally retarded patients in the same institution. Intestinal biopsy was performed in six of the 38 patients; one had total and one partial villous atrophy. Serum zinc was significantly lower in DS patients (median 14.7 μmol/l, range 5.5–20 μmol/l) than in the controls (median 16.4 μmol/l, range 12.7–19.5 μmol/l). DS patients with increased IgA activity to gluten weighed less and had lower concentrations of zinc in serum than DS patients with normal IgA activity. Twenty-eight per cent of the DS patients had autoantibodies to the thyroid gland. Our results suggest intestinal malfunction in DS, perhaps related to a defect of immune regulation caused by reduced levels of zinc in serum.     

Neuroleptic malignant syndrome without fever after addition of oxcarbazepine to long-term treatment with amisulpride

OBJECTIVE: Our goal was to report a case of malignant neuroleptic syndrome in a patient administered with both oxcarbazepine (OXCBZ) and amisulpride (AM). METHOD: We present a case of a young man who presented with symptoms of malignant neuroleptic syndrome after progressive titration of OXCBZ (1200 mg) added to the long-term treatment with AM (800 mg). RESULTS: After discontinuation of AM and administration of dopaminergic drugs, his clinical symptoms improved gradually. CONCLUSION: This case suggests that clinicians should consider the risk of neuroleptic malignant syndrome when OXCBZ is coadministered to patients undergoing long-term treatment with neuroleptics.     

Renal thorium deposition associated with transitional cell carcinoma: radiologic demonstration in two patients

Abdominal radiography, excretory urography, retrograde pyelography, and computed tomography were performed in two patients who had undergone retrograde pyelography with thorium dioxide (Thorotrast) approximately 40 years ago. Both patients developed a transitional cell carcinoma due to suburothelial thorium deposition. Typical thorium densities were demonstrated at CT in the peripelvicalyceal area as well as in retroperitoneal lymph nodes. Elderly patients in whom radiographic examination reveals retained Thorotrast in the kidney should be followed up because of the high risk of renal carcinoma.