Difficulties in the mutation analysis of plasminogen gene: a study in two patients with ligneous conjunctivitis.

The absence or very low levels of plasminogen cause a rare disabling disease called ligneous conjunctivitis, characterized by the growth of fibrin-rich pseudomembranes in the conjunctiva and on other mucosal surfaces. Several mutations have been detected in the plasminogen gene of patients affected with ligneous conjunctivitis. The human plasminogen gene, located on chromosome 6, has a marked homology with the genes belonging to the plasminogen-apo(a) family, and with a number of pseudogenes and plasminogen-like genes located on chromosome 2. This work describes a series of nucleotide variations related to genes other than the plasminogen one, found during the genetic characterization of plasminogen defect in two unrelated patients with ligneous conjunctivitis. The results of automated sequences of each exon and intron-exon boundaries were compared with those of the human plasminogen gene from the NCBI gene bank. In particular, a co-amplified gene on chromosome 2 mimicking a 14 bp deletion in exon 5 of the plasminogen gene was identified by sequencing two different bands obtained from a long run of the PCR exon 5 product in NuSieve agarose gel, and by PstI restriction enzyme analysis of the same amplicons. Moreover, 21 single nucleotide exchanges due to plasminogen-like genes co-amplification were observed, namely one in exon 1, two in exon 4, three in exons 3, 5 and 16, four in exon 13, and five in exon 17. In conclusion, these data confirm the difficulty of plasminogen genetic analysis and may help researchers to better identify the true plasminogen gene mutations causing molecular defects.     

Coronary microcirculation in essential hypertension: a quantitative myocardial contrast echocardiographic approach.

AIMS: The aims of the present study were: (a) to demonstrate whether quantitative myocardial contrast echocardiography can detect the increase in coronary flow induced by dipyridamole infusion vasodilation through the myocardial opacification due to the transit of microbubbles, both at rest and after dipyridamole induced vasodilation; (b) to explore the coronary microcirculatory function before and after dipyridamole in two different models: asymptomatic and relatively young hypertensive patients with a mild degree of left ventricular hypertrophy, and healthy controls. METHODS AND RESULTS: Two groups of strictly age-matched males were studied (case-control study): 10, relatively young and asymptomatic essential hypertensive patients with a mild degree of left ventricular hypertrophy with a normal left ventricular function, and 10 healthy controls. The main findings were: the microbubbles' appearance area was significantly lower in hypertensive patients than in controls (P<0.05) because of a significantly lower time to peak. The peak intensity at rest was higher in hypertensives than in controls (P<0.05); but the per cent increase after vasodilatory stimulus was significantly higher in controls (+71% in controls vs +31% in hypertensives; P<0.05). The microbubbles' disappearance area was comparable in both groups at rest; the per cent increase of this parameter after dipyridamole was significantly higher in controls (+124%) than in hypertensives (+90%) (P<0.05). The results achieved in this study documented that the coronary microcirculation in hypertensive patients presenting a mild degree of left ventricular hypertrophy, explored with quantitative myocardial contrast echocardiography, showed a different behaviour in comparison with controls, in the vasodilatory response to dipyridamole. CONCLUSION: The coronary microcirculation in hypertensives showed a reduced vasodilation capacity of the resistance arterioles under dipyridamole induced vasodilatation, and a possible impairment of the endothelium dependent vasodilation. This happened despite an increase in the left ventricular mass, where the relation between capillary bed distribution and hypertrophied myocardium (rarefaction phenomenon) is not completely respected.     

Twenty-four-hour activity of felodipine extended release in chronic stable angina pectoris

To investigate the antiischemic efficacy and duration of action of the dihydropyridine calcium antagonist felodipine, 15 patients with stable exertional angina were enrolled in a double-blind, crossover study comparing 2 doses (5 and 10 mg) of felodipine extended release (ER) and placebo given once daily for 1 week. Bicycle exercise tests were repeated at the end of each treatment period 4 and 24 hours after dosing. Four hours after dosing with both felodipine doses, only 5 patients discontinued the exercise test because of greater than 2 mm of ST-segment depression, whereas 10 continued until exhaustion (p less than 0.01 vs placebo). Compared with placebo, total exercise time was increased by 19% (p less than 0.001), with no difference between doses. After 24 hours, exercise duration was prolonged up to physical exhaustion in 6 patients taking felodipine 10 mg (p less than 0.05 vs both placebo and felodipine 5 mg); moreover, 11 patients taking 10 mg and 5 taking 5 mg increased time to 1 mm of ST depression greater than or equal to 15% compared with exercise time during the placebo test. Mean time to 1 mm of ST depression at 24 hours was increased by 8% with 5 mg and by 18% with 10 mg (p less than 0.001 vs placebo; p less than 0.01 between doses). Total exercise time at 24 hours was increased with both doses (p less than 0.001), with greater efficacy with the 10-mg dose (p less than 0.05 vs 5 mg).(ABSTRACT TRUNCATED AT 250 WORDS)     

Cytogenetic analysis of metastatic effusions from breast tumors

Chromosome analysis was performed on direct and in vitro cultures of 30 effusions from breast carcinoma. Although in 14 samples normal diploid stem-lines were found, chromosome abnormalities were present in stem- or side-lines of all cases. Recurrent numerical deviations were only verified as gains of Nos. 6 and 7. Rearrangements were seen involving almost all chromosome pairs (except No. 18 and gonosomes), however, Nos. 1, 3, 6 and 11 were those most frequently related to the genesis of markers. Double minutes (DMs) were found in seven samples, and there was a homogeneously staining region (HSR) in one.     

Cardiac damage due to nonpenetrating trauma. Report of four cases

Four examples of cardiac damage secondary to nonpenetrating trauma in road accidents are described. Two patients had interventricular septal defect and other two had tricuspid insufficiency. In all four cases the lesion was not recognized at the time of the accident but became clinically important later. The time interval between trauma and surgery was one month to thirteen years. After surgical treatment, all four patients have continued to be asymptomatic.     

Determinants of cervical cancer screening in a poor area: results of a population-based survey in Rivas,Nicaragua

OBJECTIVE: To obtain baseline information for designing a community-based intervention programme aimed at increasing the cervical cancer screening coverage of women most at risk. METHODS: A population-based survey, using proportional stratified two-stage cluster sampling in Rivas, one of the 16 Departments of Nicaragua. The individuals selected were interviewed at home by one of 26 interviewers, using a structured questionnaire. The questionnaire was designed to elicit (1) knowledge, attitudes and practices concerning sexual and reproductive health and behaviour, (2) risk factors for cervical cancer and (3) the use of health and cervical cancer screening services. RESULTS: A total of 612 men and 634 women participated in the survey. Of the women who had been sexually active at least 3 years, only 41.1% had undergone screening within that period and were considered adequately screened. Correlates of inadequate screening status included low educational level, exclusive use of public health facilities and lack of knowledge about prevention and symptoms of cervical cancer. Negligence, absence of medical problems, fear, lack of knowledge and economic reasons were the main reasons given for not being screened. Reluctance to be screened in the future was related to lack of knowledge of the disease, inadequate screening status, older age and low educational level. CONCLUSIONS: The current screening programme is not effective in reaching the majority of the population. Complementary activities such as education and information, as well as a more pro-active approach to invite women for screening are necessary.     

Processing of syntactically complex sentences relies on verbal short-term memory: Evidence from a short-term memory patient

The role of the phonological loop in auditory sentence comprehension was examined in a 35-year-old woman with a selective deficit of verbal short-term memory (STM). More specifically, the objective of the experiment was to test whether sentence comprehension is limited by number of propositions, as suggested by Rochon, Waters, and Caplan (2000), or whether it depends on syntactic complexity. In an offline task, severe impairment was present on cleft objects and centre-embedded structures; the deficit on object relatives in right peripheral position was less relevant, and the patient was able to handle sentential coordination easily. In an online task, her processing of centre-embedded structures and object relatives in right peripheral position was significantly slower than that in controls. She was also significantly slower in processing the verb of the object relative in centre-embedded structures. The results obtained do not support the claim that the difficulties encountered by patients with limited working-memory resources are due to the number of propositions in the sentence; they do, however, suggest a direct involvement of the phonological loop in processing syntactically complex sentences.     

Intraoperative forces and moments analysis on patient head clamp during awake brain surgery

In brain surgery procedures, such as deep brain stimulation, drug-resistant epilepsy and tumour surgery, the patient is intentionally awakened to map functional neural bases via electrophysiological assessment. This assessment can involve patient’s body movements; thus, increasing the mechanical load on the head-restraint systems used for keeping the skull still during the surgery. The loads exchanged between the head and the restraining device can potentially result into skin and bone damage. The aim of this work is to assess such loads for laying down the requirements of a surgical robotics system for dynamic head movements compensation by fast moving arms and by an active restraint able to damp such actions. A Mayfield^® head clamp was tracked and instrumented with strain gages (SGs). SG locations were chosen according to finite element analyses. During an actual brain surgery, displacements and strains were measured and clustered according to events that generated them. Loads were inferred from strain data. The greatest force components were exerted vertically (median 5.5 N, maximum 151.87 N) with frequencies up to 1.5 Hz. Maximum measured displacement and velocity were 9 mm and 60 mm/s, with frequencies up to 2.8 Hz. The analysis of loads and displacements allowed to identify the surgery steps causing maximal loads on the head-restraint device.