Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry

This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed. Latin American Group for Primary Immunodeficiency Diseases     

Results of the tension-free vaginal tape procedure for stress incontinence: Patient''s perspective

BACKGROUND: To evaluate the results of the tension-free vaginal tape procedure (TVT) from a patient's perspective. METHODS: Between May 1999 and January 2002, 90 patients underwent a TVT for genuine stress incontinence (GSI) and mixed incontinence. Prior to the procedure, GSI was confirmed by clinical examination and urodynamic studies. Results were then audited from patient notes and the same patients were sent questionnaires to examine results from a patient perspective. RESULTS: Overall response rate to the questionnaire was 70 (77%). The mean age of the patients was 50.4 years (range 31-83 years). Sixty-one patients had spinal anesthesia, seven had general anesthesia and two had local anesthesia. Mean hospital stay was 3.36 days (range 2-14 days) and mean period from the operation to the time of the survey and audit was 16.34 months (range 3-28; SD 6.92). Thirty-nine (56%) of the 70 patients who answered said that the operation had cured their incontinence, 16 (23%) had an improvement in their symptoms, 7 (10%) had worsening of their symptoms and 8 (11%) felt that the operation did not make any difference. The overall success rate according to the patients' perspective was 79%, whereas our audit showed an overall success rate of 86% (77% and 82%, respectively, when we compared only the 66 patients who had both notes and replies available for analysis). CONCLUSION: Although a patient's perception regarding the success of TVT tends to differ from that of a clinician, it was not found to be statistically significant (P = 0.22, McNemar test). The TVT is a very successful operation, but realistic cure rates should be offered to patients.     

A Clinical and Pathological Study of 43 Cases of Hydrocephalus not associated with Spina Bifida

The clinical data and pathological findings in 43 cases of hydrocephalus not associated with spina bifida are analysed. The aim was to ascertain the aetiology of hydrocephalus in these patients. The causes were malformation, meningitis, haemorrhage, neoplasm and gliosis of the aqueduct. In eight of the cases the aetiology remained uncertain after pathological examination. There was generally good agreement between the clinical diagnosis and pathological findings.

RÉSUMÉ

Les auteurs analysent les données cliniques et les découvertes anatomopathologiques chez 43 malades présentant une hydrocéphalie sans spina-bifida. Le but de cette étude était de préciser I'origine de l'hydrocbphalie chez ces enfants. Les causes relevees ont été: malformation, méningite, hémorragie, tumeur et gliose de l'aqueduc. Dans huit cas, l'origine est demeurte incertaine même aprks I'examen anatomopathologique. 11 y a eu généralement un accord satisfaisant entre le diagnostic clinique et les précisions anatomopathologiques.

ZUSAMMENFASSUNG

Die klinischen Daten und die pathologischen Befunde von 43 Patienten mit Hydrocephalus ohne Spina bifida werden ausgewertet. Das Ziel bestand darin, die Ätiologie des Hydrocephalus bei diesen Kindern zu sichern. Die Ursachen waren: Miβbildung, Meningitis, Blutung, Neoplasma und gliomatöse Entartung des Aquaduct. In 8 dieser Fälle blieb die ätiologie auch nach der pathologischen Untersuchung ungeklärt. Im allgemeinen fand sich eine gute Übereinstimmung der klinischen Diagnosen mit den pathologischen Befunden.     

THE AARSKOG SYNDROME

Abstract. Oberiter, V., Kadrnka Lovrenc'i, M., Schmutzer, Lj. and Kraus, O. (Department of Paediatrics and Department of Urology, Dr. Mladen Stojanovi University Hospital, Zagreb, Yugoslavia). The Aarskog syndrome. Acta Paediatr Scand, 69: 567, 1980.—The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.     

Early Initiation of Growth Hormone Treatment: Influence on Final Height

Vanderschueren-Lodeweyckx, M., Van den Broeck, J., Wolter, R. and Malvaux, P. (Department of Paediatric and Adolescent Endocrinology, University of Leuven, Department of Paediatrics, University of Brussels and Department of Paediatrics, University of Louvain, Belgium). Early initiation of growth hormone treatment: influence on final height. Acta Paediatr Scand [Suppl] 337:4, 1987.
Retrospective growth data for 34 hGH deficient patients who had been treated for at least 3 years with hGH were analysed in a Belgian multicentre study. Final height was related to target height and was usually below it, hut it was not determined by chronological or bone ages, bone age delay, height velocity before or during therapy, nor by duration of treatment. Total height gain during long-term substitution with hGH is inversely related to chronological and hone ages at the start of therapy, and is positively related to the duration of therapy. Early diagnosis of hGH deficiency is thus important, as it allows catch-up growth to optimal height before puberty, which in turn results in a good pubertal growth spurt.     

Leadership and management skills of first-line managers of elderly care and their work environment

abdelrazek f. , skytt b. , aly m. , el-sabour m.a. , ibrahim n. & engström m. (2010) Journal of Nursing Management  18 , 736–745
Leadership and management skills of first-line managers of elderly care and their work environment Aim To study the leadership and management skills of first-line managers (FLMs) of elderly care and their work environment in Egypt and Sweden. Background FLMs in Egypt and Sweden are directly responsible for staff and quality of care. However, FLMs in Sweden, in elderly care, have smaller units/organizations to manage than do their colleagues in Egypt. Furthermore, family care of the elderly has been the norm in Egypt, but in recent years institutional care has increased, whereas in Sweden, residential living homes have existed for a longer period. Methods A convenience sample of FLMs, 49 from Egypt and 49 from Sweden, answered a questionnaire measuring leadership and management skills, structural and psychological empowerment, job satisfaction and psychosomatic health. Results In both countries, FLMs’ perceptions of their leadership and management skills and psychological empowerment were quite high, whereas scores for job satisfaction and psychosomatic health were lower. FLMs had higher values in several factors/study variables in Egypt compared with in Sweden. Conclusion and implications The work environment, both in Egypt and Sweden, needs to be improved to increase FLMs’ job satisfaction and decrease stress. The cultural differences and levels of management have an effect on the differences between the two countries.     

Expression of Fas-Fas Ligand Antigens and Apoptotic Marker APO2.7 by the Human Conjunctival Epithelium. Positive Correlation with Class II HLA DR Expression in Inflammatory Ocular Surface Disorders

Fas antigen (CD95) is a membrane receptor that plays a major role in induction of apoptosis. In surface conjunctival epithelial cells the expressions of Fas, Fas ligand, the apoptotic marker APO2.7 and of HLA DR class II antigen, a membrane marker known to be expressed in inflammatory conditions were investigated. Impression cytology specimens were collected in 65 patients: 20 normal ones, 15 contact lens wearers, 20 receiving chronic topical antiglaucoma treatment and 10 with nonspecific chronic conjunctivitis. Cells were processed for flow cytometry, using monoclonal antibodies to Fas, Fas ligand, APO2.7, HLA DR antigens and a negative isotypic control. Percentages of positive cells were recorded and levels of fluorescence quantified using fluorescent beads at standardized fluorescence intensities. In addition, a human conjunctival cell line was incubated with anti-Fas stimulating antibodies in order to test Fas-induced apoptosis in vitro. Fas was found in all specimens in most of the conjunctival cells, but quantitation of levels of fluorescence showed a significantly higher expression in pathologic eyes than in normal ones. Fas ligand and APO2.7 were variably expressed by conjunctival cells, but in a significantly higher percentage of cells in pathological eyes than in normal ones. In these eyes a strong expression of HLA DR was also observed, whereas normal eyes showed lowest levels. Highly significant correlations were found between Fas, Fas ligand, APO2.7 and HLA DR levels. Anti-Fas antibodies in vitro induced strong apoptosis in epithelial cells as confirmed by APO2.7 expression and DAPI staining. This study confirms that conjunctival epithelial cells normally express Fas antigen, and more inconstantly its ligand, as do corneal ones or keratinocytes. Fluorescence quantitation by flow cytometry showed much higher expression in inflammatory eyes than in normal ones, and demonstrated a strong correlation between apoptotic and inflammatory pathways in the ocular surface.