Psittacara leucophthalmus (Aves: Psittacidae) como um novo hospedeiro de Paratanaisia bragai (Trematoda: Eucotylidae) no Brasil: achados clínicos e patológicos: relato de caso / Psittacara leucophthalmus as a new host of Paratanaisia bragai (Trematoda: Eucotylidae) in Brazil: clinical and pathological findings: case report

Paratanaisia bragai é um trematódeo que parasita rins e ureteres de aves domésticas e selvagens. Apesar de considerado pouco patogênico pode levar a complicações clínicas e morte em infecções severas. No presente estudo, um caso de parasitismo fatal em maritaca (Psittacara leucophthalmus) por P. bragai é relatado. A ave, oriunda da área urbana do município de Lavras, Minas Gerais, Brasil, teve manifestações clínicas de apatia, desidratação, dispneia e veio a óbito. Na necropsia foram observados rins aumentados de volume, pálidos, com superfície irregular e nodulações esbranquiçadas. Ao corte verificaram-se parasitos nos rins, que foram processados para montagem de lâminas permanentes e identificados segundo técnica de rotina como P. bragai. No exame histopatológico dos rins foram constatados infiltrado inflamatório linfoplasmocítico multifocal moderado, dilatação de túbulos e focos de regeneração tubular, associados a fibrose intersticial moderada no córtex renal. Na medula renal havia infiltrado de macrófagos, heterófilos, eosinófilos e células gigantes multinucleadas associado a parasitos em ductos coletores dilatados. O parasitismo de P. leucophthalmus por P. bragai é relatado pela primeira vez. A importância de se considerar este parasito entre as possibilidades diagnósticas em aves com insuficiência renal é brevemente discutida.(AU)

Paratanaisia bragai is a trematode parasite of the kidneys and ureters of poultry and wild birds. Despite its low pathogenicity, this parasite can lead to several clinical complications and death in heavy infections. In the present study, a fatal case of parasitism by P. bragai in a specimen of the White-eyed Parakeet, Psittacara leucophthalmus, is reported. The bird, coming from the urban area of the county of Lavras, Minas Gerais, Brazil, was clinically evaluated and revealed apathy, dehydration, dyspnea, and death. The gross findings were pale and enlarged kidneys, which also had irregular surface with whitish nodulations. Parasites were observed on cutting surface of the renal parenchyma. They were processed for assembly of permanent slides and identified as P. bragai according to routine technique. The histologic findings were mild multifocal lymphoplasmacytic infiltrate, tubular dilatation and foci of tubular regeneration related to mild interstitial fibrosis in the renal cortex, and infiltration of macrophages, heterophils, eosinophils and multinucleated giant cells associated with metazoan parasites in the collecting ducts in renal medulla. The parasitism of P. leucophthalmus by P. bragai is reported for the first time. The importance of considering this parasite among the diagnostic possibilities in birds with renal insufficiency is briefly discussed.(AU)

Distinct beneficial effects of continuous vs accumulated exercise training on cardiovascular risk factors in Wistar rats.

We compared the effects of continuous exercise (CE) vs accumulated exercise (AE) training on CVD risk factors and heart of young male Wistar rats. The exercise training (ET) was performed in a swimming pool for 30-60 min/day, 5 days/week over 15 weeks. CE group performed the ET in a single long daily session (30-60 min), while AE group performed the ET at the same frequency, intensity, and duration of CE rats, but in three short bouts over the course of a day (10-20 min in three daily sessions). AE training was more efficient than CE in attenuating body and fat weight gain and inhibiting visceral adipocyte hypertrophy at the same food intake level. CE training was more efficient in improving systolic blood pressure, LDL/HDL cholesterol, and serum triglyceride. Both ET protocols increased heart function, decreased lipid peroxidation, and increased intracellular Hsp72 content in the heart. This work shows distinct beneficial effects of CE vs AE training suggesting that the prescription of one or other may be preferred to prevent the increase of a specific CVD risk factor.

Metabolic syndrome and cardiovascular disease following hematopoietic cell transplantation: screening and preventive practice recommendations from CIBMTR and EBMT.

Metabolic syndrome (MetS) is a constellation of cardiovascular risk factors that increases the risk of cardiovascular disease, diabetes mellitus and all cause mortality. Long-term survivors of hematopoietic cell transplantation (HCT) have a substantial risk of developing MetS and cardiovascular disease, with the estimated prevalence of MetS being 31-49% among HCT recipients. Although MetS has not yet been proven to impact cardiovascular risk after HCT, an understanding of the incidence and risk factors for MetS in HCT recipients can provide the foundation to evaluate screening guidelines and develop interventions that may mitigate cardiovascular-related mortality. A working group was established through the Center for International Blood and Marrow Transplant Research and the European Group for Blood and Marrow Transplantation with the goal of reviewing literature and recommend practices appropriate to HCT recipients. Here we deliver consensus recommendations to help clinicians provide screening and preventive care for MetS and cardiovascular disease among HCT recipients. All HCT survivors should be advised of the risks of MetS and encouraged to undergo recommended screening based on their predisposition and ongoing risk factors.

Admixture and genetic relationships of Mexican Mestizos regarding Latin American and Caribbean populations based on 13 CODIS-STRs.

Short tandem repeats (STRs) of the combined DNA index system (CODIS) are probably the most employed markers for human identification purposes. STR databases generated to interpret DNA profiles are also helpful for anthropological purposes. In this work, we report admixture, population structure, and genetic relationships of Mexican Mestizos with respect to Latin American and Caribbean populations based on 13 CODIS-STRs. In addition, new STR population data were included from Tijuana, Baja California (Northwest, Mexico), which represents an interesting case of elevated genetic flow as a bordering city with the USA. Inter-population analyses included CODIS-STR data from 11 Mexican Mestizo, 12 Latin American and four Caribbean populations, in addition to European, Amerindian, and African genetic pools as ancestral references. We report allele frequencies and statistical parameters of forensic interest (PD, PE, Het, PIC, typical PI), for 15 STRs in Tijuana, Baja California. This Mexican border city was peculiar by the increase of African ancestry, and by presenting three STRs in Hardy-Weinberg disequilibrium, probably explained by recurrent gene flow. The Amerindian ancestry in Central and Southeast of Mexico was the greatest in Latin America (50.9-68.6%), only comparable with the North of Central America and Ecuador (48.8-56.4%), whereas the European ancestry was prevalent in South America (66.7-75%). The African ancestry in Mexico was the smallest (2.2-6.3%) in Latin America (≥ 2.6%), particularly regarding Brazil (21%), Honduras (62%), and the Caribbean (43.2-65.2%). CODIS-STRs allowed detecting significant population structure in Latin America based on greater presence of European, Amerindian, and African ancestries in Central/South America, Mexican Mestizos, and the Caribbean, respectively.

Arg16 ADRB2 genotype increases the risk of asthma exacerbation in children with a reported use of long-acting ß2-agonists: results of the PACMAN cohort.

BACKGROUND: Current evidence suggests that asthma patients with the ADRB2 Arg16 genotype have a poorer response to long-acting ß2-agonists (LABA), but the results remain inconsistent. AIM: This study assessed the association between Arg16 variants and treatment outcome in children treated with inhaled corticosteroids (ICS) and LABA. MATERIALS & METHODS: ADRB2 Arg16 was genotyped in 597 children (4-12 years of age) participating in the PACMAN cohort study. A questionnaire was used to assess asthma control, frequency of asthma-related emergency department visits and use of oral corticosteroids in the past year. RESULTS: Arg/Arg carriers with a reported use of ICS and LABA had an increased risk of oral corticosteroid use (odds ratio: 14.9; 95% CI: 1.59-140.1) and emergency department visits in the past year (odds ratio: 11.9; 95% CI: 1.22-115.8) compared to Gly/Gly carriers. This effect was not observed in Arg/Arg genotype carriers reporting ICS use only. CONCLUSION: Children who are homozygous for ADRB2 Arg16 have an increased risk of exacerbations when treated with combined LABA and ICS.

Período de permanência de espermatozoides em glândulas hospedeiras de espermatozoides e glândulas infundibulares em codorna de corte / Stay period of sperm in sperm-storage glands and in infundibular glands in quails

Para determinar o tempo de permanência de espermatozoides nas glândulas hospedeiras de espermatozoides (GHEs) e nas glândulas infundibulares (GIs) de codorna de corte (Coturnix coturnix coturnix), foram utilizados 12 machos e 66 fêmeas, totalizando 78 codornas em fase reprodutiva. As fêmeas foram distribuídas em 11 grupos e acasaladas por 24 horas em gaiolas individuais. Os machos, utilizados de modo intercalado, foram separados do contato com as fêmeas e colocados em descanso. As aves do grupo-controle (G0 - seis fêmeas) foram abatidas no início do experimento, enquanto as 60 fêmeas acasaladas foram distribuídas em 10 grupos (G1 a G10, com seis fêmeas cada) e abatidas a cada período de 24 horas, de forma sequencial. Fragmentos foram obtidos da região uterovaginal e do infundíbulo e submetidos às análises histológica, histoquímica e histométrica com técnicas de rotina. Os resultados morfométricos mostraram que 46% das GHEs continham espermatozoides em seu lume no primeiro dia após o acasalamento, diminuindo gradativamente nos dias posteriores chegando a 3% no quinto dia. Nesse período, os espermatozoides ascendem em direção às GIs, onde permanecem viáveis e férteis por, pelo menos, 96 horas após deixarem as GHEs, possibilitando a postura de ovos férteis por 10 dias, em média, após o acasalamento.

Sperm-Storage Tubules (SSPs) and Infundibular Tubules (ITs) are the structures responsible for sperm storage in the oviduct of birds, snakes, alligators and turtles after mating. Aiming to determine length of stay of sperm-storage tubules (SSPs) and infundibular tubules (ITs) cutting quail, Coturnix coturnix coturnix, we used 12 males and 66 females, totaling 79 quails in the reproductive phase. The females were allocated into 11 groups and mated for 24 hours in individual cages. The males used were merged and separated from contact with females and placed at rest. The poultry of the control-group (G0 six females) was slaughtered at the beginning of the experiment, the 60 previously mated females were allocated into 10 groups (G1 to G10, with six females each) and were slaughtered sequentially. On the 10th day, the last group (G10) was shot. The fragments obtained from the utero-vaginal region and the infundibulum of each female underwent histological techniques, immunohistochemistry and morphometry routine. The morphometric results showed that GHEs had 46% of the sperm in his heat on day 1 after mating, decreasing gradually in the after days reaching 3% on day 5. At this time they increase toward the infundibular tubules, where they remain viable and fertile for at least another 96 hours (4 days) after leaving the SSPs, allowing these birds to lay fertile eggs for 10 days on average after mating.

Fibrolipoma associated with a mucus retention cyst in the palate: a case report.

Fibrolipomas are benign mesenchymal neoplasms of the fatty tissue rarely encountered in the oral cavity. They account for around 1% to 5% of all neoplasms affecting the mouth and occur as raised, slow-growing, painless lesions of normal or yellow coloration and uncertain etiology. In contrast, mucus retention cysts are epithelium-lined cavities originated from a salivary gland. They are also raised, asymptomatic, slow-growing lesions, located on the floor of the mouth, buccal mucosa and lips. This article reports a diagnostic and a surgical treatment of a rare fibrolipoma case associated with a mucus retention cyst located in the palate.

Aspectos morfológicos, morfométricos e histoquímicos dos túbulos armazenadores de espermatozoides da fêmea do peru Meleagris gallopavo / Histology, histochemistry, and morphometry of the tubuli spermatici of femeale turkeys, Meleagris gallopavo

Fragmentos da junção uterovaginal de 16 exemplares de fêmeas adultas de peru foram examinados, com o objetivo de determinar as modificações morfométricas e histológicas dos túbulos armazenadores de espermatozoides (SST), durante os períodos de atividade e repouso reprodutivo. Os estudos foram realizados a partir de dissecações do oviduto esquerdo, utilizando-se técnicas histológicas, histoquímica e histométricas de rotina. Essas estruturas originam-se de invaginações do epitélio das pregas da região uterovaginal e apresentam-se tubulosas, simples e não ramificadas, com epitélio formado por células prismáticas estreitas, claras e escuras, com núcleo vesiculoso basal e microvilos apicais. As secreções dessas células apresentaram reações negativas para PAS e Alcian Blue, indicando ausência de mucossubstâncias. Os parâmetros morfométricos utilizados mostraram que há diferenças significativas entre os períodos de atividade reprodutiva e de repouso. Na fase de atividade reprodutiva, o comprimento tubular, o volume tubular, o volume do lume, o número de SST na junção uterovaginal, o diâmetro externo e interno, a altura celular e o número de células por túbulos estão aumentados, e observam-se espermatozoides agrupados na luz do lume e células claras e escuras nos túbulos com vesículas supranucleares no citoplasma das células tubulares. Na fase de repouso, os parâmetros morfológicos estão reduzidos e não são encontrados espermatozoides na luz do lume. Nesta fase, não são evidenciadas as células escuras nem as vesículas supranucleares no citoplasma celular.

Fragments of the uterus-vaginal junction of 16 adult female turkeys were investigated aiming to determine the morphometrical and histological modifications in the tubuli spermatici (tubular sperm glands) during the breeding (August to March) and non-breeding (April to July) seasons. The studies were performed in dissected oviducts processed for histology, histochemistry, and morphometry of the tubuli spermatici (TS), structures which are originated from invaginations of the uterus-vaginal epithelium. TS are simple tubular glands, lined by a columnar epithelium formed by light and dark narrow cells, which presented euchromatic nucleus and apical microvillus. The TS epithelium secretion was negative for PAS and Alcian Blue stains, indicating the absence of mucosubstances. The tubular length, tubular volume, luminal volume, number of TS, as well as external and internal diameter, cellular height, and number of cells per tubule showed significant differences between the reproductive phases (breeding and non-breeding). In the breeding season, all these morphometrical parameters were increased when compared with the ones from the non-breeding season. Clusters of sperm in the lumen of the glands, as well vesicles in the cytoplasm of both light and dark epithelial cells, were observed in the breeding season. In the non-breeding season, luminal sperm, vesicles, and dark cells were not observed in the TS glands.

Síndrome de Wolf-Hirschhorn (4p-). Diagnóstico prenatal de un caso asociado a oligoamnios y cardiopatía / Wolf-Hirschhorn syndrome (4p-). Prenatal detection of a case with oigoamnios and congenital heart defects

El síndrome de Wolf-Hirschhorn (SWH) está producido poruna deleción a nivel del brazo corto del cromosoma 4 (4p–). Existe una amplia variación en el tamaño de la deleción, correlacionándose el defecto citogenético con el fenotipo. La búsqueda de unos criterios ecográficos mínimos permitirán la orientación diagnóstica de este síndrome en el estudio prenatal. Presentamos un caso de una paciente que al realizar la ecografía selectiva en la semana 21 de gestación muestra oligoamnios y cardiopatía congénita. El estudio citogenético yla hibridación in situ fluorescente (HISF) (fluorescent in situ hybridization [FISH]) reveló la presencia de una deleción del brazo corto de cromosoma 4: 46,XX,del(4)(p14). Los padres optaron por interrumpir el embarazo y se realizó estudio necrósico al feto que mostró signos dismórficos craneofaciales típicos de SWH, así como malformaciones cardíacas. El diagnóstico prenatal del SWH se realiza habitualmente en fetos en los que se realiza cariotipo por indicaciones de rutinapara análisis cromosómico o por retraso de crecimiento intrauterino con o sin otras anomalías asociadas. Nosotros relacionamos nuestros hallazgos ecográficos: defectos de la línea media (defectos cardíacos septales) y oligoamnios como signos orientativos para el diagnóstico prenatal del SWH

Wolf-Hirschhorn syndrome (WHS) is a well-knowchromosomal disorder attributable to partial deletion ofthe short arm of chromosome 4 (4p–). We found ample variations in both the size of the deletions and the position of the respective breakpoints. Search of minimun ecographic criteria will make possible a diagnostic guide of such syndrome in prenatal studies. We report a case in which oligoamnios and congenital heart defects were detected by prenatal ultrasound examination at 21 weeks of gestation. Cytogenetic and FISH analysis of the cultured amniocytes revealed a 46,XX,del(4p14) karyotype. The parents opted to terminate the pregnancy. Fetopathological examinationshowed typical craneofacial dysmorphic signs of WHS andsevere congenital heart defects. Prenatal diagnosis of WHS has only been occasionally reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies. The associated sonographic signs of midline fusion defects (cardiac septal defects) and oligoamnios, may help to refine specific cytogenetic analysis taking into consideration 4p– syndrome

Propolis: a review of its anti-inflammatory and healing actions: [review]

Tissue healing is an adaptive biological response by which the organism repairs damaged tissue. The initial stage of healing is represented by an acute inflammatory reaction, in which inflammatory cells migrate to damaged tissue and phagocyte debris. At a later stage, fibroblasts and endothelial cells proliferate and generate a scar. The occurrence of inflammatory processes and healing imperfections have been a concern for hundreds of years, especially for individuals with healing difficulties, such as diabetics and carriers of peripheral circulation deficiencies. A wide variety of natural products have been used as anti-inflammatory and healing agents, with propolis being a remarkable option. Propolis has been used in popular medicine for a very long time; however, it is not a drug intended for all diseases. Currently, the determination of quality standards of propolis-containing products is a major problem due to their varying pharmacological activities and chemical compositions. The aim of this review is to discuss the use of propolis with emphasis on its anti-inflammatory and healing properties.

Diagnóstico prenatal y caracterización por SKY (cariotipo espectral multicolor) de cromosomas extra estructuralmente anormales (ESAC) / Prenatal diagnosis and multicolor spectral kariotyping characterization of the extra structurally abnormal chromosomes

Los cromosomas extra estructuralmente anormales (ESAC) son pequeños cromosomas supernumerarios asociados con cierta frecuencia con el desarrollo de anormalidades. Hemos revisado 9.987 estudios citogenéticos prenatales de células de líquido amniótico, encontrando tres casos con presencia de ESAC. Cada uno de estos cromosomas fueron analizados con varias técnicas con el fin de determinar su estructura, y con las técnicas citogenéticas moleculares como el FISH (hibridización in situ por fluorescencia) y SKY (cariotipo espectral multicolor). En dos casos pudimos determinar la presencia de ESAC en otros miembros normales de la familia. Un tercer caso de ESAC de novo fue detectado, y el origen cromosómico pudo ser determinado por SKY: 47,xx,+der(22) (q12-qter). La introducción de las técnicas de citogenética molecular como el SKY tiene un importante impacto en el correcto diagnóstico y en el consejo genético de acuerdo con la necesidad del paciente

Extra structurally abnormal chromosomes (ESACs) are small supernumerary chromosomes often associated with developmental abnormalities. We have revised 9,987 prenatal cytogenetic studies of amniotic fluid cells finding 3 cases with the presence of ESACs. Each of these chromosomes was analyzed with various staining techniques in orden to determine its structure, and with molecular cytogenetics techniques such FISH (fluorescence in situ hibridization) and SKY (multicolor spectral kariotyping). In two cases we could determine the presence of ESACs in other normal members of the families. In the third case a de novo ESAC was detected, and the chromosomal origin could be identified by SKY: 47,XX,+der(22)(q12-qter). The introduction of molecular cytogenetics techniques such SKY has a great impact on the correct diagnosis and we offered the genetic counseling according with the need of the patients

[Chromosome abnormalities in hyperparathyroidism: utility of comparative genomic hybridization in the study of parathyroid hyperplasias]. / Anomalías cromosómicas en el hiperparatiroidismo: utilidad de la hibridación genómica comparada en el estudio de las hiperplasias paratiroideas.

Genetic abnormalities responsible for primary (pHPT) and secondary hyperparathyroidism (sHPT) are not well described, especially those underlying the autonomous and refractory behaviour of glands from uremic patients with glandular hyperplasia and nodular growth. Comparative Genomic Hybridization (CGH) is a molecular cytogenetic technique based on a double-color in situ fluorescent analysis, allowing a global description of gains and losses of genomic material. It is a useful tool that localizes unstable genetic areas whose alteration could modify the expression of one or several genes related to the pathology in study. Results on primary hyperparathyroidism adenomas have shown a series of genetic changes correlating with areas where genes related to pHPT are located, such as MEN1 and cyclin D1. A large number of chromosomal aberrations in glands from patients with secondary hyperparathyroidism have also been found, and although some of them are common with those described for primary hyperparathyroidism, most of them are located in different areas or in a different proportion. These results confirm that although severe sHPT hyperplasias can evolve into neoplasias similar to pHPT adenomas, both parathyroid alterations must be considered, from a genetic point of view, as unrelated.

[Technique of inverse scleral flap in the treatment of peripheral corneal defects (Abreu and Delgado technique)]. / Técnica de recubrimiento escleral inverso en el tratamiento de defectos corneales periféricos (Técnica de Abreu y Delgado).

PURPOSE: To present a new easy-to-perform technique for the treatment of peripheral corneal defects (perforation or significant thinning), which has had good results. METHODS: This technique, which consists in sliding and suturing a limbal based inverted scleral flap (similar to the scleral flap used in glaucoma surgery) over the affected peripheral cornea, is described. We present 7 cases: one dellen, two marginal ulcers, two perforating traumatisms, one descematocele and one case of corneal thinning after pterygium surgery. RESULTS: All 7 cases were satisfactorily resolved without modifying either the astigmatism or visual acuity. CONCLUSIONS: This is an easy-to-perform technique which offers good results and although it has some limitations, it can be recommended for the treatment of many peripheral corneal defects (perforations and significant thinning).

Comparison of an oleic acid enriched-diet vs NCEP-I diet on LDL susceptibility to oxidative modifications.

OBJECTIVE: The objective of this trial was to compare the effect on the susceptibility of plasma Low Density Lipoprotein (LDL) to oxidative modifications of consumption of two oleic rich diets, prepared with two different plant oils, virgin olive oil (OL)1 and refined high monounsaturated fatty acids (MUFA sunflower oil (SU)), with the susceptibility of plasma LDL to oxidation after an National Cholesterol Education Program step 1 (NCEP-I) phase diet. DESIGN: A randomized crossover design. SUBJECTS AND INTERVENTIONS: Twenty-two healthy normolipidemic young males consumed an NCEP-I diet for a 4-week period. Subjects were then assigned to two diets each of 4-weeks duration. Group one was placed on an olive oil enriched diet (40% fat, 22% MUFA) followed by a 4-week period of a MUFA diet enriched in sunflower oil (40% fat, 22% MUFA). In group two, the order of the diets was reversed. RESULTS: Both MUFA diets induced a decrease in saturated (14:0, 16:0, and 18:0) and an increase in monounsaturated and polyunsaturated n-6 (18:2, 20:3, and 20:5) plasma LDL-phospholipid fatty acids, compared to the NCEP-I diet (P<0.01). No significant differences in lag times were observed between the olive oil and the NCEP-I diet periods. However there was a greater inhibition time (P<0.001) when subjects consumed the MUFA rich sunflower oil diet compared to the NCEP-I diet. These differences were probably related to the relative enrichment of plasma LDL particles in alpha-tocopherol due to the high vitamin E content of the MUFA-rich sunflower oil. Indeed, the alpha-tocopherol content was positively correlated with lag time (r=0.338; P<0.008). CONCLUSION: Our findings suggest that changes in plasma LDL alpha-tocopherol content with practical solid-food diets can decrease its susceptibility to oxidation. SPONSORSHIP: This work has been supported by grants from the Investigaciones de la Seguridad Social (FIS 92/0182, to Francisco Pérez Jiménez); and from Koype Co, Andújar, Jaén, Spain. European Journal of Clinical Nutrition (2000) 54, 61-67

De novo trisomy 16p.

We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2-->p12).

Deletion of exon b3 of the BCR gene in CML: easy breakpoint mapping by a two-round PCR.

We have performed the molecular analysis for the detection of the BCR-ABL and ABL-BCR fusion genes in 50 patients with myeloproliferative disorders. All patients diagnosed with CML (13 out of 50) were positive for the BCR-ABL hybrid. Six CML patients (46%) showed ABL-BCR amplifications of the Ib-BCR type. All rearrangements but one were concordant. The aberrant case presented a deletion of exon b3, in addition to the alternative Ib-BCR and Ia-BCR. Its possible origin and relevance are briefly discussed.

BCR-ABL rearrangement and 'variant' Philadelphia chromosome in de novo acute myelogenous leukaemia FAB subtype M1.

We report a case of de novo acute myelogenous leukaemia FAB subtype M1 that presents a cytogenetic complex translocation between chromosomes 7, 9 and 22, producing a 'variant' Philadelphia chromosome. Molecular analysis revealed a BCR-ABL rearrangement involving exons b3 and a2 (b3a2). Haematological parameters and genetic analysis again raise the problem of the true nature of this disease, which is briefly discussed.