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662 records · Page 37Linked to original sources
PubMed1981

Red-cell metabolism of pyridoxine in controls and beta-Thalassaemia in Ferrara, Northern Italy.

The rate of red-cell metabolism of pyridoxine to pyridoxal phosphate was measured in control subjects and patients with homozygous and heterozygous beta-thalassaemia from Ferrara, Northern Italy, and in British control subjects of Anglo-Saxon origin. A high incidence of a slow rate of B6 metabolism was found in beta-thalassaemia in Ferrara similar to that found previously in Cypriots living in London. Of particular interest was a much slower rate in control subjects from Ferrara than in British control subjects of Anglo-Saxon origin. The suggestion that a high incidence of a slow red-cell metabolism of B6 is the result of selection by malaria, whether associated with thalassaemia or not, is considered.

Cyprus↗
PubMed1994

Polycythemia and the heart. A review.

Thrombosis of the coronary arteries, heart chambers, and great vessels is a complication of polycythemia. Previously, the treatment of coronary thrombosis in the presence of this disease was based on exchange phlebotomy. However, the development of efficient thrombolytic agents, emergency catheterization techniques, and coronary artery bypass surgery may make phlebotomy obsolete.

Coronary Disease↗
PubMed1994

The homeless visit: enhancing residents' understanding of patients who are homeless.

BACKGROUND: With their interest in providing continuous, comprehensive care, family physicians are well-suited to treat persons who are homeless. Yet family practice residents most frequently encounter homeless patients in crowded public hospitals where time constraints and competing philosophies of patient care create suboptimal conditions and encourage the development of cynical attitudes and behavior patterns. EDUCATIONAL INTERVENTION: To address these problems, the Department of Family Medicine at Baylor College of Medicine in Houston developed a homeless visit program in which second-year residents spent one half day at a day center for the homeless. Residents interview the center's homeless clients, address their medical and psychosocial problems, and review each client's case with a faculty physician. Residents have the opportunity to explore the underlying causes of homelessness, the impact of homelessness on clients' health and well-being, and the bureaucratic barriers that homeless individuals must overcome to regain entry into the health care system. PROGRAM EVALUATION: After the first year, the program was evaluated to assess whether its original objectives had been met. Each of the second-year residents reported that the experience had been worthwhile. They recommended that the program expand the number of half days spent with homeless patients and the ancillary personnel, equipment, and supplies available. Each of these changes has been implemented and the program continues to thrive and improve. CONCLUSION: The homeless visit serves as a successful model for resident programs willing to devote as little as a half day in a 3-year curriculum toward training residents to better understand the intricate relationship between homelessness, physical and emotional needs, and an environment that simultaneously promotes illness and hinders medical attention.

Curriculum↗
PubMed1993

[George Nicholas Papanicolaou].

G. N. Papanicolaou was born on May the 13, 1883 in the city of Kymi on the Greek island of Euboea. He received his MD degree from the University of Athens in 1904 and a PhD from the University of Munich in 1910. After service as a medical officer in the Balkan War of 1912-1913, he came to New York with Mary (for over 50 years Dr Pap's life companion). George's violin playing at restaurants and coffee-shops supplied them with a few extra cents. Papanicolaou was appointed assistant in the Pathology Laboratory at the New York Hospital. In 1928 he presented his work "New Cancer Diagnosis" to the third race betterment conference (Battle Creek, Michigan). But the work was met with scepticism. The now famous monograph "The Diagnostic Value of Vaginal Smears in Carcinoma of the Uterus" was published in 1941 in the Am J Obst Gyn. During this time, he developed his method of preservation of these cells by wet fixation and precise staining. Papanicolaou persisted with his ideas, and finally cytologic examination of the cervix was accepted. The power of Papanicolaou screening for uterine cancer was remarkable. The first National Cytology Congress, held in 1948, hailed this new diagnostic tool for carcinoma of the cervix as unique because it could detect cancer before it was visible. He described the importance of a distinct cellular pattern corresponding to cervical intraepithelial neoplastic lesions. The value of this pattern, expressing evolutionary steps in the development of cancer at individual cell levels, was not appreciated.(ABSTRACT TRUNCATED AT 250 WORDS)

Cyprus↗
PubMed1993

Analysis of delta-globin gene mutations in Greek cypriots.

We recently described four delta-globin gene mutations in Greek Cypriots studied by polymerase chain reaction (PCR) amplification and automated fluorescence-based DNA sequence analysis (Blood 78:3298, 1991). Selective restriction enzyme digestion of PCR products facilitated direct mutation detection. Twenty-eight additional samples from unrelated Cypriots with Hb A2 levels ranging from 0.6% to 3.6% were studied by PCR and showed the following: twelve had the delta 27 (ala-->ser) mutation, one was heterozygous for the delta IVS-2 AG-->GG change, and none had either the delta 116 (arg-->cys) or delta 141 (leu-->pro) mutations. The remaining samples were divided into two groups: 11 with borderline normal Hb A2 values that were not pursued; and four with abnormal Hb A2 values. The delta-globin genes from these four samples were sequenced and the same four changes identified in each: a C-->T at -199, a C-->T at codon 4 (thr-->ile), a silent C-->T at codon 97, and an AT deletion at position 722 in IVS-2. The codon 4 change abolishes a Ple I site whereas the codon 97 creates an Nla III site, thus facilitating rapid identification. All four changes are in cis position, suggesting that the -199 C-->T, the C-->T at codon 97, and the AT deletion in IVS-2 are neutral polymorphisms present on the codon 4 (thr-->ile) chromosome. DNA haplotype analysis suggests all five delta-globin gene mutant alleles arose independently on different chromosomal backgrounds.

Base Sequence↗
PubMed1996

Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families.

We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero thalassemia allele and a novel mutation, C-->G in position +33, in the 5' untranslated region of the beta globin gene. In both families the beta +33 allele is associated with the same beta haplotype (-++- ) suggesting that it is likely to be of a single origin, beta-cDNAs from normal and mutant beta alleles were isolated from peripheral blood reticulocytes using the technique of reverse transcription-polymerase chain reaction. Because the beta +33 (C-->G) mutation creates a cutting site for the restriction enzyme NlalV, we could demonstrate by differential restriction analysis that the beta gene with +33 mutation showed 25% to 35% residual activity compared with normal. The additive effect of this moderate deficit in beta globin production with the beta zero thalassemia mutation would explain the clinical phenotypes observed in the two probands. In contrast, two siblings of one proband who were also compound heterozygotes for the same beta thalassemia mutations, as well as heterozygotes for a nondeletional alpha thalassemia variant, and two other compound heterozygotes for the beta +33 and a beta+ thalassemia allele were completely asymptomatic. Individuals heterozygous for the beta +33 C-G mutation alone are clinically and hematologically silent, with normal red blood cell indices and normal levels of hemoglobin (Hb) A2. A direct relationship between genotypic and phenotypic severity is clearly demonstrated in these cases with obvious implications for prenatal diagnosis.

Alleles↗
PubMed1997

New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.

Two novel polymorphisms were identified in the factor V gene by direct sequencing of intronic areas. One of them, located in intron 9, is the marker closest to the Leiden mutation ever described, whereas the other, in intron 16, displays a rare allele invariantly associated to the mutation. Allele-specific amplification protocols were designed to perform extensive screenings for both polymorphic sites. The new markers were used in combination with six previously described polymorphisms to define specific factor V gene haplotypes. Haplotype investigations in 506Q homozygous thrombotic patients and normal controls showed the presence of a single haplotype underlying the factor V Leiden mutation in Mediterranean populations (among which Greek Cypriots, where the R506Q mutation is particularly frequent) and Indians. When traced in the absence of the Leiden mutation, the background haplotype was found to be present and roughly as frequent as the mutation itself in these populations. These findings indicate a single mutational event, that probably occurred outside Europe, as the cause of the Leiden mutation and provide a powerful tool to investigate its evolutionary history.

Cyprus↗
PubMed1998

Greek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.

A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci meet Hardy-Weinberg expectations and that there is no evidence for association of alleles between loci. Allelic frequency distributions at all loci, except HLA-DQA1 and two D1S80 alleles, were similar to those of U.S. Caucasians. Greek Cypriot population databases have been created and can be used for forensic analyses to estimate the frequency of a multiple locus DNA profile.

Alleles↗
PubMed1998

The end of malaria in Europe: an eradication of the disease by control measures.

The success of the campaigns against malaria in Europe, the USA and other countries in the temperate zone, prompted WHO to launch its global eradication campaign in 1955. It failed to achieve eradication in tropical countries due to climatic, social and economic conditions different from those prevailing in the temperate zone, where eradication had been achieved using control measures.

Animals↗