Characterization of digital dermatoglyphic features in Salazar Valley: comparison with other Basque valleys

Digital dermatoglyphics of a sample from the Basque Valley of Salazar, situated in the West of the Pyrenees, were analysed. The results showed bimanual differences in both sexes, and also sexual differences for both hands. The comparative study with other Basque valleys showed that, in spite of their supposed common origin, the geographic barriers and the isolation have generated a genetic/dermatoglyphic and linguistic differentiation.     

Haemophilia A: molecular insights.

Haemophilia A is the most common inherited bleeding disorder caused by defects in the F8C gene that encodes coagulation factor VIII. This X-linked recessive disorder occurs in approximately 1:5000 males. Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and reduced factor VIII activity in plasma. Carrier females are usually asymptomatic and can be identified only by molecular analysis. The most frequent mutations in F8C are intron 22 and 1 inversions, which occur in approximately 50% and 5% of patients, respectively, with a severe phenotype. Large gene deletions are observed in approximately 5% of alleles from patients with severe haemophilia A. The remaining severe cases and all moderate and mild cases result from numerous point mutations and small insertions/deletions, which are de novo mutations in one-third of cases. Thus, molecular diagnosis of carrier status and prenatal diagnosis in families without intron 22 or 1 inversions is based on scanning techniques or gene sequencing. When the disease-causing mutation cannot be identified, molecular diagnosis is performed by linkage analysis of several DNA polymorphic markers linked to F8C. Given the clinical heterogeneity among haemophilic patients, many groups, including our own, have examined the relationships between prothrombotic gene variants and haemophilic phenotype to investigate whether prothrombotic gene variants modify clinical expression of the disease.     

A comparision of brain biopsy and CSF-PCR in the diagnosis of CNS lesions in AIDS patients

Twenty patients with AIDS who had intracranial lesions underwent both brain biopsy and cerebro-spinal fluid (CSF) examination to compare histological diagnosis with the polymerase chain reaction (CSF-PCR) for the identification of infectious agents. CSF-PCR was performed for herpes simplex virus, varicella zoster virus, cytomegalovirus (CMV), JC virus (JCV), Epstein-Barr virus (EBV), Toxoplasma gondii and Mycobacterium tuberculosis. A definitive diagnosis was obtained by brain biopsy in 14 patients (2 with astrocytoma, 12 with brain infection). CSF-PCR was positive for EBV DNA in 3 of 3 cases of primary cerebral lymphoma, positive for JCV DNA in 6 of 7 biopsy-proven (and one autopsy-proven) cases of progressive multifocal leukoencephalopathy (PML). CSF-PCR was positive for CMV DNA in one biopsy-proven and one autopsy-proven case of CMV encephalitis (the former also had PML) and positive for M. tuberculosis DNA in one case of tuberculous encephalitis. None of the five toxoplasmic encephalitis cases (one definite, four presumptive) were T. gondii DNA positive. There was close correlation between histology and CSF-PCR for CMV encephalitis, PML and PCL. Antitoxoplasma therapy affected the sensitivity of both histological and CSF-PCR methods. Received: 8 November 1995 Received in revised form: 9 July 1996 Accepted: 19 July 1996     

Platelet-rich plasma serotonin levels in tension-type headache and depression

We measured platelet-rich plasma (PRP) serotonin in patients suffering from tension-type headache, before and after treatment with amitriptyline, comparing them with a healthy control group and patients with untreated depression. We evaluated the severity of headache and depression in each group. PRP serotonin levels were higher in patients with headache than in controls and depressed patients. We observed a fall of PRP serotonin in patients with tension-type headache to similar levels after treatment as the depressed group. This fall was correlated with the improvement of headache but not with depression scales. Our data suggest that the rise of platelet serotonin levels in tension-type headache is related to pain and not depression.     

Characterization of hydrolysis of [leu]enkephalin and D-ala2-[L-leu]enkephalin in rat plasma

Based on differences in total metabolite accumulation in the presence or absence of selective peptidase inhibitors, rat plasma is found to have its own unique pattern of enkephalin hydrolysis. Approximately 85-90% of the hydrolysis of [leu]enkephalin is attributed to the combined action of aminopeptidase M and angiotensin converting enzyme, whereas "enkephalinase" and aminopeptidase MII activity against [leu]enkephalin are not detectable. Similarly, 80-90% of the hydrolysis of D-ala2-[L-leu] enkephalin (DALLE) is due to the combined action of aminopeptidase M and angiotensin converting enzyme, whereas aminopeptidase MII and enkephalinase activity against this substrate also could not be detected. This is in contrast to the high susceptibility to hydrolysis by enkephalinase, and the low susceptibility to aminopeptidase activity, for DALLE in brain tissue. Among other alternatives, it is suggested that enkephalin hydrolysis in plasma may appear to be unique because of differences in enzyme conformation and/or the availability of a substance(s) that competes with, or alters the binding of, [leu] enkephalin, DALLE or the inhibitors to the enzymes.     

Studies on the effects of the antiandrogen cyproterone acetate on social encounters between pairs of male mice

An attempt was made in two experiments to reinvestigate the effects of the antiandrogen cyproterone acetate (CA) on mouse social behavior in a variety of ethologically-assessed paired encounters. The data confirm that CA reduces offense (threat and attack) in animals when both subjects receive the material but that CA has no such action in other pairings. This suggests that CA's major suppressive effect on "hostility" is expressed in mice via a reduction in "attack-promoting" pheromone production. Indeed, there was evidence in the more chronic study that CA, could augment (via a central mechanism?) offense in subjects paired with docile anosmic opponents. Changes in defense were largely responses to variations in the degree of attack to which animals were subjected. The antihormone also had actions on other aspects of behavior including sexual activity, social investigation and immobility in such tests. CA had a potent suppressive action on the weights of sex accessory glands. The data do not suggest that CA can be used as a specific antihostility agent.     

Cholecystokinin suppresses food intake in cats: structure-activity characterization

Our experimental models in this study were cats fitted with gastric fistulae. Intravenous infusion of sulfated CCK 8 and nonsulfated Boc CCK 7 inhibited both sham-feeding and feeding in fasted cats. The threshold dose (1.2 pmol/kg.hr) required for inhibition of sham-feeding was identical to that required to inhibit feeding in the same animals. However, the gastric secretory studies indicated that this dose was 90 times lower than the threshold dose stimulating gastric acid secretion (109 pmol/kg.hr). In nonfasted animals, sulfated CCK 8 and nonsulfated Boc CCK 7 (219 and 875 pmol/kg.hr) are both capable of decreasing the food intake at different intervals following the infusion with no significant effect on daily food intake. Our findings clearly show that there is no difference in the sensitivity of CCK's ability to inhibit sham-feeding and feeding, suggesting that CCK's suppressive effect on food intake does not solely involve gastric distension mechanisms. In contrast to gastric acid secretion, the sulfate group is not a "restrictive" factor for peripherally-induced CCK satiety.     

Probe "balloon on a wire" ultra-low-profile coronary catheter: results of PTCA in 107 patients

A new low-profile "balloon-on-a-wire" angioplasty catheter, the Probe (USCI), was used in 107 patients over a 4-month period. Twenty-nine patients had stable angina, 59 had unstable angina, and 19 had had myocardial infarction (MI) 3 to 15 days prior to the procedure; 71 patients had single-vessel and 36 had multi-vessel disease. In this series, 57 lesions were defined as complex. Successful dilatation was defined as a residual stenosis of less than 30%. Of 132 non-total obstructions, 127 (97%) were successfully dilated. Two distal lesions could not be reached, two lesions could not be crossed by the balloon, and a distal lesion dilatation resulted in acute closure in one case. Of 19 total obstructions, 16 (84%) were successfully dilated (mean residual stenosis 23%). The wire tip was unable to cross the lesion in the three unsuccessful procedures. Seven complications occurred in the series, all involving non-total obstructions: closure of a distal vessel and a side branch caused no clinical symptoms or EKG changes; three local dissections were tacked back with repeat dilatation; and two longitudinal dissections caused no apparent reduction in luminal diameter. The Probe's low-profile and exceptional trackability enabled it to cross very tight lesions with minimal trauma to the vessel wall. The high degree of conformability of the PET balloon minimizes vessel straightening or sheer forces and appears to reduce the potential for dissection. The device may therefore extend the indications and ease of PTCA while reducing complications of the procedure.