Weak evidence for allelic association in the cypriot PKD1 population.
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The psychiatric symptoms of 50 consecutive Greek Cypriot attenders at a primary health care centre in North London were compared with 50 consecutive native English attenders using the 28 item General Health Questionnaire. No differences were identified between the two ethnic groups. However, the less 'acculturated' Greek Cypriot patients manifested a higher level of psychological disturbance.
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The aspirations, mores, and family structure in Cypriot immigrants, which are illustrated in four cases of hysterical behaviour, have many similarities to nineteenth century Viennese society. Such behaviour may mask more sinister diagnoses; one of the cases remains diagnostically uncertain and another passed through a transient hysterical psychosis with Ganser-like symptoms. The cultural, dynamic, and nosological issues are discussed.
Using the Electrodiagnostic Neurophysiological Automated Analysis (ENAA) telematic system, 1560 standardized electrodiagnostic tests have been performed on 70 normal subjects and 320 patients in five laboratories in three European countries. The data from each patient have been transmitted from the five satellite laboratories to the Bristol Telematic Electrodiagnostic Centre (BRITEC), housed in the Bristol Eye Hospital, where they were evaluated and the conclusions transmitted to the place of origin. The results from the normal subjects were not significantly different between laboratories. Also patients with specific types of disease had similar results in all laboratories. The results from both the normal subjects and the patients show that a working prototype for providing telematic electrodiagnosis is available and has been well received by both clinicians and patients.
This article aims to help health care workers begin to understand the Greek Cypriot woman, her needs, problems and strengths. It will try to explore briefly how Greek Cypriot women perceive health and illness and will discuss factors that influence these perceptions. It will also examine some of the major health problems that Greek Cypriot women face. The article uses material from the author's on-going research into the health needs of the Greek Cypriot community living in North London.
This study examines the organization and development of 5 domains of reasoning (categorical, quantitative, spatial, causal, and propositional) and the construct validity of a test designed to measure development from early adolescence to early adulthood. The theory underlying the test is first summarized and the conceptual design of the test is then illustrated. Each domain was addressed by tasks tapping abilities known to be acquired in this age period. The test was administered to 629 adolescents ranging in age from 12 to 18 years. Confirmatory factor analysis validated the 5 domains of reasoning and revealed a common factor underlying all domains. The Rasch model was used to scale the items and specify the reliability of the test across the whole sample and within different groups of participants (female, male, students of gymnasium, and students of lyceum). This model showed that the test is highly reliable and invariant across groups. Cluster analysis and the saltus model were applied to uncover successive developmental stage-like levels of difficulty and showed the presence of five such levels. The procedural and representational characteristics of these levels were also specified and their implications for developmental and cognitive theory were discussed.
INTRODUCTION: 5alpha-Steroid reductase deficiency (5alphaSRD) is an autosomal recessive enzymatic deficiency. Mutations in the 5alpha-steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphroditism caused by decreased dihydrotestosterone (DHT) synthesis--a key hormone of virilization of male external genitalia. AIM: To study for the first time patients from the Greek Cypriot population, describe their clinical characteristics, and identify the genetic mutations of the SRD5A2 gene. PATIENTS AND METHODS: Three unrelated patients with 46,XY karyotype born with ambiguous genitalia were examined. Patient 1 was raised as a girl and was diagnosed with partial androgen insensitivity syndrome, based on the clinical picture and incomplete laboratory investigation at the age of 4 years, and underwent gonadectomy. For this patient sequencing analysis of all five exons of the SRD5A2 gene and exons 2 to 8 of the androgen receptor (AR) gene was performed. Patients 2 and 3 were also born with ambiguous genitalia. The hCG test for these two patients was informative of 5alphaSRD, as it showed elevated T/DHT ratio after stimulation. Despite genetic counseling, both families decided to raise their infants as females because of severe under-virilization. Sequencing of the SRD5A2 gene was also completed for both patients. RESULTS: No mutations were found in the AR sequence for patient 1. Patients 1 and 3 were found homozygous for the mutation A/G at splice junction intron 1/exon 2 and patient 2 was found heterozygous for the same A/G substitution and also heterozygous for an additional mutation, Pro181Leu, in exon 3. CONCLUSIONS: The same mutation in the SRD5A2 gene was identified in three unrelated patients, in both homozygous and heterozygous form. This splice mutation was previously reported in Turkish patients. This underlying genetic abnormality may be characteristic for the Eastern Mediterranean region and is likely due to an ancestor effect.
OBJECTIVE: To evaluate the results of the screening program for congenital hypothyroidism (CH) in the Greek Cypriot population. CHILDREN AND METHODS: During 1990-2000, 109,532 neonates were screened by TSH determination. Permanent CH was proven with biochemical findings after discontinuation of treatment for scintigraphy at the age of 3 years. RESULTS: Permanent CH was diagnosed in 61 infants, incidence 1/1800, with female/male ratio 2.05/1. The most common clinical findings were omphalocele (61%), large anterior fontanelles (49%) and edema of the eyelids (34%). The more delayed the bone maturation, the lower were initial T4 levels (p = 0.005). Bone maturation tended to be more advanced in thyroid hypoplasia and more delayed in thyroid agenesis (p = 0.049). Scintigraphy of the thyroid with TC99 revealed ectopia in 38%, thyroid agenesis in 36%, thyroid hypoplasia in 24% and dyshormonogenesis in 1.7%. Children with transient CH had significantly lower T4 and higher TSH values initially compared to those with permanent CH after birth; initial TSH level, however, failed to predict the nature of CH. Children with transient CH required less thyroxine dosage to maintain normal thyroid hormone levels and they had a normal thyroid gland on scintigraphy. The TSH level was normalized before the age of 2 months with a starting L-thyroxine dose of 10 microg/kg/daily. CONCLUSIONS: The incidence of primary CH in Greek Cypriots is 1/1800 live births. The most common etiology is thyroid dysgenesis. Initial T4 levels correlated with the degree of skeletal maturation and the etiology. Initial TSH level, although lower in children with transient CH, could not predict the nature of CH.
This review covers the organisation of veterinary public health (VPH) activities in countries of the Eastern Mediterranean region, with reference to zoonoses and hazards to man from foods of animal origin. A study of the region shows that no separate VPH units exist within the national Veterinary Services. Although these Services are gradually being upgraded and strengthened, most of their resources are spent in controlling serious contagious animal diseases such as foot and mouth disease, rinderpest and Newcastle disease. Rabies, present in almost every country of the region, is a zoonosis which no Veterinary Service can ignore. Other serious zoonoses affecting the region include echinococcosis, brucellosis, leishmaniasis, anthrax, toxoplasmosis and tuberculosis. Salmonellosis is one of the most serious food-borne zoonoses, while hazards from the increased presence of additives, pesticides, antibiotics and hormones in foods of animal origin are other emerging VPH problems. Many obstacles hamper efficient reorganisation of VPH activities. These include the inherited colonial system of assigning VPH activities to other authorities (health inspectors) rather than to Veterinary Services; the confusion as to which authority should actually be responsible in a given field; the lack of epidemiological studies and knowledge of the real extent of VPH problems; lack of training; inadequately staffed and poorly equipped Veterinary Services; and lack of public awareness. Nonetheless, a few countries have made excellent progress in reorganising VPH activities and in eradicating serious zoonoses. International organisations like the OIE, FAO and WHO can help greatly in establishing efficient VPH programmes.
Haemoglobin Bart's was detected and quantitated in 42 babies during a survey of cord blood from neonates of Mediterranean origin. The distribution of Hb Bart's levels for the group appeared to be bi-modal, with modes at 2.0% and 5.5%. Haematological data obtained from 21 babies during the first week of life showed a highly significant reduction in average MCV (86.3 +/- 7.7 fl) and MCH (27.8 +/- 6.0 pg) in comparison with a control group of babies. However, there was no significant correlation between these parameters and Hb Bart's levels. Haematological data were available on 57 parents of the Hb Bart's babies and HbH preparations were positive in 28 cases (49%). Examination of red cell indices showed a highly significant reduction in the average MCV and MCH of parents with positive HbH preparations, and a diagnosis of alpha-thalassaemia (based on the presence of HbH inclusion bodies and reductions in MCV and/or MCH) was made in at least one parent in the majority of couples with both partners tested, suggesting that alpha-thalassaemia trait in people of Mediterranean origin is generally associated with detectable haematological changes.
This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and one beta-globin chain variant that gives rise to the abnormal Hb S. The eight most common beta-thalassemia mutations were the IVS-I-110 (G-->A), IVS-I-1 (G-->A), codon 5 (-CT), -30 (T-->A), codon 39 (C-->T), IVS-I-6 (T-->C), IVS-II-1 (G-->A), and codon 15 (TGG-->TAG). These mutations accounted for almost 75% of the total beta-thalassemia chromosomes. We identified 34 different genotypes with a high level of homozygosity. The various beta-thalassemia mutations were characterized using gene amplification with specific oligonucleotide primers, restriction enzyme analysis, denaturing gradient gel electrophoresis and direct sequencing. By combining these three approaches we were able to detect mutations in almost 90% of the chromosomes studied. Our findings provide a sound foundation on which to base a preventive program for thalassemia and we believe that the data that we present will facilitate the improvement of medical services such as carrier screening, genetic counseling, and prenatal diagnosis. Furthermore a detailed knowledge of the molecular pathology of beta-thalassemia will strongly improve the prenatal diagnosis services in Syria.
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