HELLP syndrome associated with factor V R506Q mutation

The pathogenesis of HELLP (haemolysis, elevated liver enzyme and low platelet count) syndrome, a severe presentation of pre-eclampsia, is still an enigma. Activated protein C resistance resulting from a mutation in coagulation factor V has recently emerged as the leading cause of thrombosis in pregnancy. We report on two patients with HELLP syndrome who were found to be heterozygous for factor V R506Q mutation, leading to activated protein C resistance. These findings suggest that the pathogenesis of HELLP syndrome is associated with a thrombotic process, and point to the potential benefit of anti-thrombotic therapy in this condition.     

Bilateral ovarian fibromas in children

The case of bilateral ovarian fibromas occurring in an 8-year-old black girl is reported. These lesions occur rarely in premenarchal females and may be a manifestation of Nevoid Basal Cell Syndrome. Calcifications are reported to occur rarely in ovarian fibromas but seem to occur frequently in fibromas in children. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma. Preservation of normal ovarian tissue is recommended with the acknowledged risk of recurrence of the fibroma.     

Faking specific disorders: a study of the Structured Interview of Reported Symptoms (SIRS).

An untested assumption of malingering research is that persons who feign mental illness will not attempt to fake a particular disorder, but will be content to fabricate non-specific and possibly global psychiatric impairment. We tested the effectiveness of the Structured Interview of Reported Symptoms (SIRS) to detect feigning of three diagnostic groupings: schizophrenia, mood disorders, and PTSD on 45 psychologically knowledgeable correctional residents. We found that the SIRS maintained its powers of discrimination with respect to clinical samples. Similar research on faking specific disorders is needed on the MMPI-2 and other psychological measures.     

Osteochondroma in a British neolithic skeleton.

The skeletal remains of past populations provide an important source of information on the natural history of disease. Relatively few cases of bone tumours have been reported in archaeological material. This paper describes one of the oldest occurrences of osteochondroma to have been identified in a human skeleton.     

Cyclosporin-responsive hidradenitis suppurativa.

Hidradenitis suppurativa, a chronic inflammatory condition of the apocrine gland follicles, may rarely be complicated by pyoderma gangrenosum (PG). We report such a case, in which the immunosuppressant cyclosporin A (CyA) was given to treat PG and a dramatic improvement occurred in the patient's intractable perineal HS.     

Molecular cloning and sequencing of a cDNA for olfactory marker protein.

cDNA clones corresponding to mRNA for rat olfactory marker protein (OMP) were isolated from a cDNA library. The library was constructed from olfactory mucosa poly(A)+ RNA enriched for OMP mRNA and cloned into a pBR322-derived plasmid, pMG5. OMP cDNA clones were detected by using a 17-base oligonucleotide probe that contained all 16 possible sequences coding for a known partial amino acid sequence of rat OMP. The identity of these clones was confirmed by hybrid-selected translation and nucleotide sequencing. The sequence of one clone was determined and contained the complete OMP coding region of 486 nucleotides followed by 1630 nucleotides of the 3' untranslated region. The 3' untranslated region included the polyadenylylation signal 16 nucleotides upstream of the poly(A) tail. No other ATG-initiated open reading frame larger than 20 codons was present in register. RNA blot analysis of olfactory mucosa poly(A)+ RNA using this clone as a probe indicated that the level of OMP mRNA, but not its size, declined significantly within a few days following olfactory bulbectomy. OMP mRNA was not detected in 14 nonolfactory rat tissues. Surprisingly, a small amount of OMP mRNA was observed in olfactory bulb. The presence of OMP mRNA in olfactory bulb was confirmed by in vitro translation and immunoprecipitation. These results suggest either that a previously undescribed population of neurons in the olfactory bulb synthesize OMP or that OMP mRNA is transported to the bulb by axonal transport.