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Biomedical subjects

F Cruciani

Publications and source records attributed to F Cruciani.

At least 37 records · Page 2Linked to original sources

[Minimal lesion hypertensive retinopathy and arterial pre-hypertension: evidence of arterial pressure monitoring in presumed normotensive subjects at zero risk].

The present study investigates the blood pressure (BP) 24 h pattern in 25 subjects who were found to show some incipient signs of hypertensive retinopathy, although they were diagnosed as normotensive by means of casual sphygmomanometry. BP was controlled by means of non invasive ambulatory monitoring. A comparable number of normotensive subjects without fundoscopic signs of hypertensive retinopathy was investigated as a control group. BP times series were analyzed by means of conventional and rhythmometric biometry. The biometric estimates suggest that the subjects with incipient hypertensive retinopathy show a significantly higher level of daily systolic BP even though their BP values remain below the reference limits. This finding suggests that the hypertensive retinopathy may exist in a non-zero stage characterizable as minimal change tensive retinopathy. This retinal picture occurs in subjects who show a pre-hypertensive stage in their BP 24 h pattern.

Adolescent↗

Novel tetranucleotide repeat polymorphism in the human adenosine deaminase gene: interethnic comparison of three major human groups.

A new tetranucleotide repeat polymorphism was revealed at the human adenosine deaminase (ADA) locus by using the polymerase chain reaction and denaturing polyacrylamide gel electrophoresis. Allele frequencies were estimated in seven populations from three major ethnic groups. Heterozygosity values were calculated and found to differ significantly between Africans and non-Africans.

Adenosine Deaminase↗

An MspI polymorphism in the X-specific region proximal to the pseudoautosomal boundary. A new example of a unique "African" marker?

A polymorphic MspI site was located in the X-specific region proximal to the pseudoautosomal boundary. Two alleles defined by the absence or the presence of the MspI site were detected by the polymerase chain reaction (PCR) in a sample of Bantu-speaking individuals from Cameroon. No variation for this site was observed in a population sample from Italy.

Africa↗

Genetic studies in Cameroon: mitochondrial DNA polymorphisms in Bamileke.

In two population samples of 77 Bamileke (Bantu sensu lato) and 18 Bakaka (Bantu sensu stricto) from southwestern Cameroon, the mtDNA RFLPs for the HpaI, HaeII, MspI, AvaII, and HincII enzymes were studied. Two of the MspI morphs had not been reported before. Six new types were found, four of which represent new combinations of previously described morphs. The AvaII morph 3 was found in association with the "African" HpaI morph 3. This finding is in line with previous observations in Negroids and demonstrates the usefulness of this combination as an indicator of black African ancestry. Two differences were noted between the groups: a lower frequency of HpaI morph 3 and a higher frequency of HaeII morph 4 in the Bakaka with respect to the Bamileke (0.44 versus 0.62 and 0.17 versus 0.03, respectively). The importance of these differences could not be evaluated because the Bakaka sample was too small. Nevertheless, because the Bamileke show a relatively low frequency of mtDNA type 1 (2.1.1.1.-) and high frequencies of mtDNA types 2 (3.1.1.1.3.-) and 7 (3.1.1.1.1.-), they can be placed with the other Negroids so far examined, but they are closer to the Senegalese than to the Bantu from South Africa. In comparing the Bamileke and the Bantu, mtDNA type 3 (3.1.1.2.2.-) appears particularly discriminative because it is present in all the Bantu subgroups examined but not in the Bamileke. mtDNA type 39 (2.1.4.1.1.-), which was observed only in the Bamileke, might be considered likewise discriminative, although to a lesser degree.

Adult↗

[Parameters for the assessment of inflammation of the anterior segment of the eye].

The authors examine general aspects of the assessment and evaluation of inflammation of the anterior segment of the eye, stressing above all the importance of accurate history taking and correct diagnostic approach. The also define general features of inflammatory processes and analyse the main and most modern instrumental techniques that are essential for precise assessment of clinical parameters of inflammatory conditions of the anterior segment of the eye.

Anterior Eye Segment↗

[Glaucoma as a cause of blindness].

The problem of glaucoma as a cause of blindness is discussed. WHO has proposed five classes of sightlessness on the sole basis of visual acuity without taking into account sense of luminosity, peripheral vision, color vision. In addition, different nations have different tables for evaluating the severity of the handicap so that data on this subject cannot be compared. This is why the problem of blindness due to glaucoma is very complicated and the concept of blindness has to be standardized as well as the method of epidemiologic research. The investigation starts from a list of the most reliable sources: records of associations of sightless subjects, lists of sightless persons receiving an invalidity pension, filed research, records of support activities and transversal population studies. This is followed by a general review of causes of blindness worldwide, their prevalence according to age and sex, and especially the causes of blindness in various nations and in different regions of Italy. Last, the percentage of loss of eye-sight due to glaucoma is examined.

Africa↗

[The epidemiologic problem of glaucoma].

The problem of glaucoma is considered from an epidemiological point of view. The main causes of this pathology are discussed as well as present difficulties of effective prevention.

Adult↗

[Apropos of preventive ophthalmologic interventions in the child population of compulsory school age. Authors' experience].

The results are reported of work carried out during the last five years by the Center of Social Ophthalmology, director Prof. G. Scuderi, which is part of the II Division of the Ophthalmologic Clinic of Rome University "La Sapienza" with the object of trying out together with territorial units a model of preventive intervention acting as a filter for specialized university facilities. In other words, already existing facilities and medical personnel were to be used and trained for specific methods and techniques. From 1985 through 1990, 787 children selected by ophthalmologic screening by school doctors among the compulsory school population of the RM 3 and 5 districts were seen and submitted to periodic checks. This cohort included children aged 5 to 14 without significant differences in sex distribution and with prevalence of the 8 to 10 year olds. Each subject was submitted to complete eye examination including refractometry and orthoptics, color vision, biomicroscopic and ophthalmoscopic examination. The principal findings show that about 36% of subjects examined have a natural vision of 11/10 while the high percentage of ametropia observed was mainly represented by astigmatism and hypermetropy, albeit of minor intensity. Strabismus was found in 2.79% and implied marked visual deficit that was often refractory to any type of treatment. In addition, the prevalence was determined of other abnormalities concerning eye motility, color vision and pathologies involving anterior segment and eyeground. In their conclusion, the authors stress the rarity of organic ocular pathology in children (mostly represented by inflammatory changes of the adnexes and conjunctiva) whereas amblyopia was one of the main causes of visual deficit in children. They stress the importance of early therapeutic intervention in order to allow complete visual rehabilitation. The results of the clinical model for prevention were excellent so that it can even be proposed for large scale prevention of amblyopia.

Adolescent↗

[Ocular pathology in HIV infection].

The above short note underscores the importance of ocular complications in HIV infection. These syndromes are either isolated or concomitant with CNS involvement but frequently they do not receive due consideration.

AIDS-Related Complex↗

Hyperbaric oxygen therapy in the treatment of secondary keratoendotheliosis.

We evaluated the effectiveness of hyperbaric oxygen therapy in the treatment of keratoendotheliosis secondary to surgical treatment. A total of 33 patients were randomized to two arms of this study. The first arm consisted of 12 patients treated with pharmacologic therapy and hyperbaric oxygen daily for ten days. The second arm consisted of 21 patients treated with pharmacologic therapy alone (control group). Our evaluation of the results was based on testing visual acuity, grading of corneal alterations, and pachymetry findings. Hyperbaric oxygen treatment was effective in reducing corneal edema, particularly when administered early. Corneal neovascularization did not occur in any patient treated with hyperbaric oxygen.

Aged↗

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia.

Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a CTG repeat located in the 3' untranslated region of the DMPK gene. Normal alleles show a copy number of 5-37 repeats on normal chromosomes, amplified to 50-3000 copies on DM chromosomes. The trinucleotide repeat shows a trimodal allele distribution in the majority of the examined population. The first class includes alleles carrying (CTG)5, the second class, alleles in the range 7-18 repeats, and the third class, alleles (CTG) > or =19. The frequency of this third class is directly related to the prevalence of DM in different populations, suggesting that normal large-sized alleles predispose toward DM. We studied CTG repeat allele distribution and Alu insertion and/or deletion polymorphism at the myotonic dystrophy locus in two major Ethiopian populations, the Amhara and Oromo. CTG allele distribution and haplotype analysis on a total of 224 normal chromosomes showed significant differences between the two ethnic groups. These differences have a bearing on the out-of-Africa hypothesis for the origin of the DM mutation. In addition, (CTG) > or =19 were exclusively detected in the Amhara population, confirming the predisposing role of these alleles compared with the DM expansion-mutation.

Alleles↗

The lower susceptibility to Plasmodium falciparum malaria of Fulani of Burkina Faso (west Africa) is associated with low frequencies of classic malaria-resistance genes.

The gene frequencies in 1993-94 for haemoglobin S, haemoglobin C, alpha-3.7 deletional thalassaemia, G6PDA-, HLAB*5301 were estimated in Fulani, Mossi and Rimaibé ethnic groups of Burkina Faso, West Africa. The aim of the study was to verify whether the previously reported Fulani lower susceptibility to Plasmodium falciparum malaria was associated with any of these malaria-resistance genes. Similar frequencies for haemoglobin S were recorded in the 3 ethnic groups (0.024 +/- 0.008, 0.030 +/- 0.011, 0.022 +/- 0.013; in Mossi, Rimaibé and Fulani, respectively). The Mossi and Rimaibé showed higher frequencies when compared to Fulani for haemoglobin C (0.117 +/- 0.018, 0.127 +/- 0.020, 0.059 +/- 0.020), alpha-3.7 deletional thalassaemia (0.227 +/- 0.040, 0.134 +/- 0.032, 0.103 +/- 0.028), G6PDA- (0.196 +/- 0.025, 0.187 +/- 0.044, 0.069 +/- 0.025) and HLA B*5301 (0.189 +/- 0.038, 0.202 +/- 0.041, 0.061 +/- 0.024). Among Fulani the proportion of individuals not having any of these protective alleles was more than 3-fold greater than in the Mossi-Rimaibé group (56.8% vs 16.7%; P < 0.001). These findings exclude the involvement of these genetic factors of resistance to P. falciparum in the lower susceptibility to malaria of Fulani. This evidence, in association with the previously reported higher immune reactivity to malaria of Fulani, further supports the existence in this ethnic group of unknown genetic factor(s) of resistance to malaria probably involved in the regulation of humoral immune responses.

Adolescent↗