Influence of the degree of adherence to the Mediterranean diet on the cardiometabolic risk in peri and menopausal women. The Flamenco project.

BACKGROUND AND AIMS: The Mediterranean diet (MD) has been associated with reduced morbidity from cardiovascular diseases in the general population. The aim of this study was to assess whether different degrees of adherence to the MD were associated with the cardiometabolic risk in peri and menopausal women. METHODS AND RESULTS: This cross-sectional study included 198 peri and menopausal women participating in the Flamenco project. Validated questionnaires were used to assess menopause health-related quality of life and degree of adherence to the MD (low, medium and high). The following cardiometabolic risk factors were assessed: fat mass percentage, waist circumference, blood pressure and resting heart rate, plasma markers (total cholesterol, high and low-density lipoprotein cholesterol [HDL-C and LDL-C, respectively], total cholesterol/HDL ratio, triglycerides, C-reactive protein and fasting glucose), Physical activity levels and smoking status. The degree of adherence to the MD among the study sample was 27%, 40% and 30% for low, medium and high adherence, respectively. After controlling for potential confounders, women with a high adherence to the MD showed lower plasma total cholesterol (p = 0.025), resting heart rate (p = 0.005), LDL-C (p = 0.019), triglycerides (p = 0.046) and C-reactive protein (p = 0.009) compared to those with a low adherence. Likewise women with high adherence to the MD showed lower total cholesterol/HDL-C ratio (p = 0.020) compared to those with a medium adherence. The high MD adherence group also showed lower clustered cardiometabolic risk (p = 0.004). Moreover, when analysing specific MD components, whole grain cereals, pulses (both p < 0.05) and red wine (p < 0.01) consumption were inversely associated with the clustered cardiometabolic risk. CONCLUSION: The present findings suggest that a high but not medium adherence to the MD is associated with a cardioprotective effect in peri and menopausal women. As a low percentage of the sample showed a high adherence to the MD, future research aimed at increasing the adherence to this dietary pattern for a better cardiometabolic status during peri and menopause is warranted.

Association of objectively measured physical activity and physical fitness with menopause symptoms. The Flamenco Project.

OBJECTIVE: The primary aim was to analyze the association of moderate-to-vigorous physical activity (MVPA) with menopause symptomatology and its overall impact. A secondary/exploratory aim was to assess the association of different components of physical fitness with menopause symptomatology. METHODS: This cross-sectional study comprised 191 perimenopausal women from Southern Spain (age range 45-60 years, mean age 52.6 ± 4.5 years). The Blatt-Kupperman Menopausal Index was used to evaluate menopause symptomatology. Objectively measured MVPA was registered with accelerometry. Physical fitness was assessed with the Senior Fitness Test battery plus handgrip strength and sit-and-reach tests. RESULTS: After adjustment for multiple confounders, MVPA was only inversely associated with vertigo (r = -0.185, p < 0.05) and palpitations (r = -0.148, p < 0.05). Upper-body flexibility was inversely associated with the Blatt-Kupperman Menopausal Index global score (r = -0.147, p < 0.05). This test was also inversely associated with vertigo (r = -0.230, p < 0.01) and arthralgia (r = -0.168, p < 0.05). Lower-body muscle strength was associated with lower nervousness (r = -0.171, p < 0.05). Cardiorespiratory fitness was inversely associated with paresthesia (r = -0.158, p < 0.05), vertigo (r = -0.219, p < 0.01), fatigue (r = -0.159, p < 0.05) and arthralgia (r = -0.180, p < 0.05). CONCLUSION: The main findings of the present study indicate a weak association of objectively measured MVPA with menopause symptomatology. Exploratory analyses suggest that upper-body flexibility was associated with slightly lower overall menopause impact whereas neither MVPA nor any physical fitness components studied were associated with vasomotor symptoms.

Association of physical fitness with health-related quality of life in early postmenopause.

OBJECTIVE: To assess the association of different components of physical fitness with HRQoL in early postmenopause and to test which physical fitness components are independently associated with the physical and mental components of HRQoL. METHODS: The final sample comprised 67 early postmenopausal women. Physical fitness was assessed with the Senior Fitness Test battery (additionally including handgrip strength test), and HRQoL was evaluated with the Short-Form Health Survey-36 (SF-36). We also analyzed plasma gonadotropic hormones and estradiol. RESULTS: Overall, most of the fitness components were positively associated with HRQoL. Lower-body flexibility, upper-body muscle strength and cardiorespiratory fitness were the fitness components more strongly associated with HRQoL (r range from 0.28 to 0.56). Static balance was especially associated with mental health (r = -0.46, P < 0.001). Lower-body flexibility (assessed with the chair sit-and-reach test) and upper-body muscle strength (assessed with handgrip dynamometry) were independently associated with the SF-36 Physical Component Summary (both, P < 0.001). Upper-body muscle strength (P < 0.01) and cardiorespiratory fitness (assessed with the 6-min walk test, P < 0.05) were independently associated with the SF-36 Mental Component Summary. CONCLUSIONS: Higher physical fitness is associated with better HRQoL in early postmenopause. Lower-body flexibility and upper-body muscle strength were the most important independent fitness indicators, explaining ~30 % of HRQoL.

Terena Amerindian group autosomal STR data: comparison studies with other Brazilian populations.

Allele frequencies for the high polymorphic short tandem repeats (STR) loci PentaE, PentaD, D18S51, D21S11, TH01, D3S1358, FGA, D16S539, D7820, D13S317, vWA and D81179 were analysed in an native Amerindian population from Mato Grosso do Sul state named Terena. Deviations from Hardy-Weinberg expectations were evaluated and the results showed no differences from equilibrium in all loci. The combined power of discrimination and the combined power of exclusion for the 12 tested STR loci were 0.99999999 and 0.999999 respectively. The Terena population data were compared to other from 11 Brazilian populations (Amazônia, Pernambuco, Mato Grosso do Sul, São Paulo, Rio Grande do Sul, Alagoas, Sergipe, Rio Grande do Norte, Santa Catarina, Rondônia and Rio de Janeiro) representing the major Brazilian geographic regions. The F(ST) comparative analysis showed no significant differences between all those populations except when comparing Terena with the remained ones.

An association between viral genes and human oncogenic alterations: the adenovirus E1A induces the Ewing tumor fusion transcript EWS-FLI1.

Malignant transformation of human cells requires the accumulation of multiple genetic alterations, such as the activation of oncogenes and loss of function of tumor suppressor genes or those related to genomic instability. Among the genetic alterations most frequently found in human tumors are chromosomal translocations that may result in the expression of chimeric products with transforming capability or are able to change the expression of oncogenes. We show here that the adenovirus early region 1A (E1A) gene can induce a specific human fusion transcript (EWS-FLI1) that is characteristic of Ewing tumors. This fusion transcript was detected by RT-PCR in normal human fibroblasts and keratinocytes after expression of the adenovirus E1A gene, as well as in human cell lines immortalized by adenoviruses. Cloning and sequencing of the RT-PCR product showed fusion points between EWS and FLI1 cDNA identical to those detected in Ewing tumors. In addition, we detected a chimeric protein by western blot analysis and immunoprecipitation and a t(11,22) by fluorescent in situ hybridization. This association between a single viral gene and a specific human fusion transcript indicates a direct link between viral genes and chromosome translocations, one of the hallmarks of many human tumors.

Beta3-adrenergic receptor polymorphism is related to cardiometabolic risk factors in obese Brazilian subjects.

We determined whether ADRbeta3 polymorphism is associated with obesity-related traits in 140 obese patients. Molecular analysis was performed by PCR and RFLP. Individuals carrying the Arg64 allele had a lower waist-to-hip ratio, higher adiponectin and high-density lipoprotein cholesterol levels, and a tendency towards lower blood pressure. In contrast, Trp64/Trp64 carriers were at greater risk for dysmetabolic phenotypes (odds ratio = 2.88, P = 0.03).

Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension.

Essential hypertension is a disease multifactorially triggered by genetic and environmental factors. The contribution of genetic polymorphisms of the renin-angiotensin-aldosterone system and clinical risk factors to the development of resistant hypertension was evaluated in 90 hypertensive patients and in 115 normotensive controls living in Southwestern Brazil. Genotyping for insertion/deletion of angiotensin-converting enzyme, angiotensinogen M235T, angiotensin II type 1 receptor A1166C, aldosterone synthase C344T, and mineralocorticoid receptor A4582C polymorphisms was performed by PCR, with further restriction analysis when required. The influence of genetic polymorphisms on blood pressure variation was assessed by analysis of the odds ratio, while clinical risk factors were evaluated by logistic regression. Our analysis indicated that individuals who carry alleles 235-T, 1166-A, 344-T, or 4582-C had a significant risk of developing resistant hypertension (P < 0.05). Surprisingly, when we tested individuals who carried the presumed risk genotypes A1166C, C344T, and A4582C we found that these genotypes were not associated with resistant hypertension. However, a gradual increase in the risk to develop resistant hypertension was detected when the 235-MT and TT genotypes were combined with one, two or three of the supposedly more vulnerable genotypes - A1166C (AC/AA), C344T (TC/TT) and A4582C (AC/CC). Analysis of clinical parameters indicated that age, body mass index and gender contribute to blood pressure increase (P < 0.05). These results suggest that unfavorable genetic renin-angiotensin-aldosterone system patterns and clinical risk variables may contribute to increasing the risk for the development of resistant hypertension in a sample of the Brazilian population.

LEPR p.Q223R, beta3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects.

Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor beta3 (beta3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complications. The results of most of these studies have been controversial. In the present study, we investigated the relationship of the beta3-AR p.W64R, LEP c.-2548G>A and LEPR p.Q223R gene variants with body mass index (BMI), in Brazilian subjects of different genetic backgrounds and ethnic origins. Two hundred obese patients (60 males, 140 females, BMI > or = 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI < or = 24 kg/m2). Genomic DNA was extracted and amplified by polymerase chain reaction. Polymerase chain reaction products were digested with specific restriction enzymes and separated by electrophoresis. There was no significant difference in the genotype frequency of the beta3-AR p.W64R and the LEP c.-2548G>A polymorphisms, between lean and obese subjects. However, the genotype and allele frequencies of the LEPR p.Q223R variant were significantly different between the normal weight and obese groups. Haplotype analysis has shown an association between the G/G allelic combination of c.-2548G>A LEP and c.668A>G LEPR, in obese subjects. Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p.Q223R variant being related to BMI increase. The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increase in obesity risk.

Crosstalk between NRF2 and HIPK2 shapes cytoprotective responses.

Homeodomain interacting protein kinase-2 (HIPK2) is a member of the HIPK family of stress-responsive kinases that modulates cell growth, apoptosis, proliferation and development. HIPK2 has several well-characterised tumour suppressor roles, but recent studies suggest it can also contribute to tumour progression, although the underlying mechanisms are unknown. Herein, we have identified novel crosstalk between HIPK2 and the cytoprotective transcription factor NRF2. We show that HIPK2 is a direct transcriptional target of NRF2, identifying a functional NRF2 binding site in the HIPK2 gene locus and demonstrating for the first time a transcriptional mode of regulation for this kinase. In addition, HIPK2 is required for robust NRF2 responsiveness in cells and in vivo. By using both gain-of-function and loss-of-function approaches, we demonstrate that HIPK2 can elicit a cytoprotective response in cancer cells via NRF2. Our results have uncovered a new downstream effector of HIPK2, NRF2, which is frequently activated in human tumours correlating with chemoresistance and poor prognosis. Furthermore, our results suggest that modulation of either HIPK2 levels or activity could be exploited to impair NRF2-mediated signalling in cancer cells, and thus sensitise them to chemotherapeutic drugs.

Tratamiento quirúrgico de las úlceras por radionecrosis con colgajos músculo y fasciocutáneos / Surgical treatment of radionecrosis ulcers with myocutaneous and fasciocutaneous flaps

Resumen Introducción: La Ulcera con radionecrosis debe ser resecada ampliamente y reparada con colgajos miocutáneos y fasciocutáneos. Objetivo: Presentar el tratamiento quirúrgico de las úlceras por radionecrosis mediante colgajos Miocutáneos y Fasciocutáneos pediculados y microquirúrgicos. Materiales y Método: La casuística es de 31 pacientes portadores de úlceras por radionecrosis resueltas con colgajos miocutáneos y fasciocutáneos. Ellos han sido pediculados y microquirúrgicos. Las edades fluctuaron entre 30 y 75 años operados entre el 2000 y el 2019. Resultados: Se realizaron 19 colgajos musculares o miocutáneos y 12 fasciocutáneos en diferentes zonas del organismo. Los colgajos correspondieron a: temporal, latissimus dorsi de pedículo central y en reversa, latissimus dorsi microquirúrgicos, recto abdominal, escapular microquirúrgico, para escapular, gracilis, gastrocnemius, rectus femoris, cubital microquirúrgico, fasciocutaneos: cone flap y de rotación local. Las complicaciones fueron dehiscencia de herida operatoria suturada y celulitis tratada con antibióticos. No hubo necrosis completa de los colgajos. El seguimiento fue de 3 a 6 meses. Discusión: En esta serie hemos utilizados los colgajos músculo cutáneos de preferencia, los fasciocutáneos los hemos reservados para aquellos casos en los que por razones anatómicas, de localización de las úlceras, era más adecuado usar estos últimos, como en las lesiones planas o poco profundas. Generalmente los colgajos fueron pediculados y en determinados casos, cuando el tejido vecino de reparación no estaba disponible, realizamos colgajos con microcirugía. Conclusión: El tratamiento de las úlceras por radionecrosis es efectivo cuando se realiza desbridamiento exhaustivo con cobertura inmediata con colgajos musculares o músculocutáneos y fasciocutáneos. Fueron colgajos pediculados y microquirúrgicos.

Introduction: The radionecrosis ulcer have to be widely resected and repaired trough flaps with good blood supply who contibute with oxigen, nutrients and antibiotics. Thinking on this the more suitable flaps are the myocutaneous ones and in special conditions the fasciocutaneous. Aim: The objetive of this paper is to show the surgical treatment of radionecrosis ulcers with myocutaneous and fasciocutaneous flaps. Materials and Method: Casuistic is 31 patients with radionecrosis ulcers treated with, mainly, myocutaneous flaps and in special areas with fasciocutaneous ones. The majority were pedicle flaps and in less number microsurgical flaps. The age of patients were betwee30 and 75 years old. Results: 19 muscle or myocutaneous flaps and 12 fasciocutaneous flaps were made. Flaps were latissimus dorsi, temporal, escapular, para escapular, rectus abdominis, rectus femoris, gracilis, gatrocnemius, cone flap and local fasciocutaneous flaps. Complications were sutured operative wound dehiscence and cellulitis treated with antibiotics. There were no complete necrosis of any flap. Discusion: In this serie we used muscle or myocutaneous flaps because they give good blood supply, oxigen, nutrients and arrival of antibiotic with filling of the deep ulcers. When the ulcers were shallow we use fasciocutaneous flaps. The majority of our flaps were pedicles and microsurgical flaps were used when there was no near avialable tissue. Conclusion: The treatment have to be wide debridement of the ulcer. The surgical treatment is with myocutaneous and fasciocutaneous flaps sometimes pediculates and in others conditions microsurgicals.

Association of Dietary Habits with Psychosocial Outcomes in Women with Fibromyalgia: The al-Ándalus Project.

BACKGROUND: Fibromyalgia (FM) is a complex multidimensional disorder with pain as its main symptom. Fibromyalgia imposes a psychosocial burden on individuals that negatively impacts quality of life. The relationship of dietary habits with these psychosocial aspects is still unclear. OBJECTIVE: The purpose of this cross-sectional study was to assess dietary habits in a representative sample of women with FM and to explore their association with mental health, depression, and optimism in this population. DESIGN: A cross-sectional study was conducted between November 2011 and January 2013. PARTICIPANTS: The study sample comprised 486 women (ages 35 to 65 years) with FM from Andalucía (southern Spain). MAIN OUTCOME MEASURES: Mental health, depression, and optimism were evaluated by means of the mental component scale of the 36-item Short-Form Health Survey, the Beck Depression Inventory (BDI-II), and the Life Orientation Test Revised, respectively. A short form of a validated food frequency questionnaire was used to assess dietary habits. STATISTICAL ANALYSES PERFORMED: Analysis of covariance was used to assess associations between dietary habits and mental health, depression, and optimism. The presence of severe depression (BDI-II ≥29) as a function of dietary habits was examined with logistic regression. RESULTS: A daily or almost-daily consumption of fruit and vegetables and a moderate consumption of fish (2 to 5 servings per week) were associated with higher scores in mental health (P<0.001, P<0.05, and P<0.001, respectively) and lower levels of depression (P<0.001, P<0.01, and P<0.01, respectively). A daily or almost-daily consumption of vegetables and a moderate consumption of dairy products and fish were associated with higher levels of optimism (P<0.05, P<0.05, and P<0.001, respectively). A daily or almost-daily consumption of cured meats and sweetened beverages were associated with higher levels of depression and lower levels of optimism, respectively (both P<0.05). CONCLUSION: The results this study suggest that a daily or almost-daily intake of fruit and vegetables and a moderate intake of fish may be associated with more favorable psychosocial outcomes in women with FM. Conversely, excessive intake of cured meats and sweetened beverages was related to worse scores in optimism and depression outcomes. Future research analyzing dietary patterns as well as intervention studies evaluating the effects of healthy dietary patterns on psychosocial and physical outcomes in individuals with FM are warranted.

Personalized diagnosis by cached solutions with hypertension as a study model.

Statistical modeling of links between genetic profiles with environmental and clinical data to aid in medical diagnosis is a challenge. Here, we present a computational approach for rapidly selecting important clinical data to assist in medical decisions based on personalized genetic profiles. What could take hours or days of computing is available on-the-fly, making this strategy feasible to implement as a routine without demanding great computing power. The key to rapidly obtaining an optimal/nearly optimal mathematical function that can evaluate the "disease stage" by combining information of genetic profiles with personal clinical data is done by querying a precomputed solution database. The database is previously generated by a new hybrid feature selection method that makes use of support vector machines, recursive feature elimination and random sub-space search. Here, to evaluate the method, data from polymorphisms in the renin-angiotensin-aldosterone system genes together with clinical data were obtained from patients with hypertension and control subjects. The disease "risk" was determined by classifying the patients' data with a support vector machine model based on the optimized feature; then measuring the Euclidean distance to the hyperplane decision function. Our results showed the association of renin-angiotensin-aldosterone system gene haplotypes with hypertension. The association of polymorphism patterns with different ethnic groups was also tracked by the feature selection process. A demonstration of this method is also available online on the project's web site.

Considerations on the effect of anti-sandfly antibodies on biological parameters of Lutzomyia longipalpis (Lutz & Neiva, 1912) (Diptera: Psychodidae: Phlebotominae).

The immunization of vertebrate hosts with vector components may be an alternative for the control of diseases transmitted by insects. In the present study we evaluated the effects of anti-sandfly antibodies on some of the biological parameters of female Lutzomyia longipalpis, a vector of visceral leishmaniasis. Rabbits were immunized with extracts of gut from blood-fed (GB) or sugar-fed (GS) females, carcass of sugar-fed (CS) or blood-fed (CB) females, and with repeated sandfly bites (BITE). Immune sera showed increased antibody titers compared to pre-immunized animals, and specific bands were detected by Western Blot. An analysis of biological parameters revealed a decline in fecundity in the group of females fed on rabbits immunized with GB and BITE. Longevity and mortality were studied in females with oviposition (parous) and without oviposition (nulliparous). Nulliparous females that fed on rabbits immunized with bites died in the highest percentage. A mortality analysis after egg laying revealed a peak on the fifth day in all the groups, but females fed on rabbit subjected to repeated bites showed a shift towards the third day.

The associations between physical fitness and cardiometabolic risk and body-size phenotypes in perimenopausal women.

OBJECTIVE: To study the association between physical fitness and body-size phenotypes, and to test which aspects of physical fitness show the greatest independent association with cardiometabolic risk in perimenopausal women. STUDY DESIGN: This cross-sectional study involved 228 women aged 53±5years from southern Spain. MAIN OUTCOME MEASUREMENTS: Physical fitness was assessed by means of the Senior Fitness Test Battery (additionally including handgrip strength and timed up-and-go tests). Anthropometry, resting heart rate, blood pressure and plasma markers of lipid, glycaemic and inflammatory status were measured by standard procedures. The harmonized definition of the 'metabolically healthy but obese' (MHO) phenotype was employed to classify individuals. RESULTS: The overall prevalence of the MHO phenotype was 13% but was 43% among the obese women. Apart from traditional markers, metabolically healthy non-obese women had lower levels of C-reactive protein than women with the other phenotypes (p<0.001), and levels of glycosylated haemoglobin were lower in MHO women than in metabolically abnormal non-obese women (overall p=0.004). Most of the components of physical fitness differed with body-size phenotypes. The 6-min walk and the back-scratch tests presented the most robust differences (both p<0.001). Moreover, the women's performance on the back-scratch (ß=0.32; p<0.001) and the 6-min walk (ß=0.22; p=0.003) tests was independently associated with the clustered cardiometabolic risk. The back-scratch test explained 10% of the variability (step 1, p<0.001), and the final model, which also included the 6-min walk test (step 2, p=0.003), explained 14% of the variability. CONCLUSION: Low upper-body flexibility was the most important fitness indicator of cardiometabolic risk in perimenopausal women, but cardiorespiratory fitness also played an important role.

DNA microarray analysis of the cyanotroph Pseudomonas pseudoalcaligenes CECT5344 in response to nitrogen starvation, cyanide and a jewelry wastewater.

Pseudomonas pseudoalcaligenes CECT5344 is an alkaliphilic bacterium that can use cyanide as nitrogen source for growth, becoming a suitable candidate to be applied in biological treatment of cyanide-containing wastewaters. The assessment of the whole genome sequence of the strain CECT5344 has allowed the generation of DNA microarrays to analyze the response to different nitrogen sources. The mRNA of P. pseudoalcaligenes CECT5344 cells grown under nitrogen limiting conditions showed considerable changes when compared against the transcripts from cells grown with ammonium; up-regulated genes were, among others, the glnK gene encoding the nitrogen regulatory protein PII, the two-component ntrBC system involved in global nitrogen regulation, and the ammonium transporter-encoding amtB gene. The protein coding transcripts of P. pseudoalcaligenes CECT5344 cells grown with sodium cyanide or an industrial jewelry wastewater that contains high concentration of cyanide and metals like iron, copper and zinc, were also compared against the transcripts of cells grown with ammonium as nitrogen source. This analysis revealed the induction by cyanide and the cyanide-rich wastewater of four nitrilase-encoding genes, including the nitC gene that is essential for cyanide assimilation, the cyanase cynS gene involved in cyanate assimilation, the cioAB genes required for the cyanide-insensitive respiration, and the ahpC gene coding for an alkyl-hydroperoxide reductase that could be related with iron homeostasis and oxidative stress. The nitC and cynS genes were also induced in cells grown under nitrogen starvation conditions. In cells grown with the jewelry wastewater, a malate quinone:oxidoreductase mqoB gene and several genes coding for metal extrusion systems were specifically induced.

Familial aggregation of Leishmania chagasi infection in northeastern Brazil.

A sample of 1,604 individuals belonging to 243 nuclear families from an endemic area of visceral leishmaniasis (Jacobina, Bahia State, Brazil) was studied to disclose the intrafamilial pattern of infection. Significant father to offspring, mother to offspring, and sibling to sibling associations, in contrast a with nonsignificant father to mother association, clearly indicate a familial aggregation of the infection, with a strong suggestion of at least partial genetic involvement.

Deletion(2)(p23) abnormality in a case of secondary acute myeloid leukemia.

We report a case of acute myeloid leukemia (M5a of the FAB classification), secondary to the myelodysplastic syndrome, showing a deletion of the short arm of chromosome 2 at p23 in the bone marrow cells. In addition, a duplication of chromosome 13,dup(13)(q12q14) was found.

Ph-positive chronic myeloid leukemia with t(8;21)(q22;q22) in blastic crisis.

A patient diagnosed with chronic myeloid leukemia was studied periodically during his illness. The result showed the presence of a Philadelphia (Ph) chromosome by a 9;22 translocation as a single abnormality to the time of blastic crisis. At that time, the chromosome studies showed a clonal evolution. Furthermore, a second derivated line was added to the Ph line. This new anomaly consisted of a 8;21 translocation, considered as specific of M2 type acute nonlymphoblastic leukemia of French-American-British classification.

Burkitt lymphoma with a duplication of der(8)t(2;8). Interpretation of a complex karyotype by chromosome painting.

A 51-year-old male patient was diagnosed with Burkitt lymphoma 3 months after cardiac transplantation. The bone marrow karyotype was very complex, and to better define the complex karyotype we used the in situ suppression hybridization technique. Previously we interpreted this karyotype to be: 48,XY,t(2;8)(p11;q24), +der(2)t(2;8)(p11;q24),del(2)(q23), +7, +der(8)t(2;8)(p11;q24), +12, -13, -18, by G banding techniques, with a duplication of the t(2;8) derivatives. After in situ hybridization we changed to a: 48,XY,t(2;8)(p11;q24),t(2;18)(q23;q22), +7, +der(8)t(2;8)(p11;q24), +12, -13, which implies duplication of only one t(2;8) derivative.

Cytogenetic study of neuroendocrine carcinoma of Merkel cells.

We describe the cytogenetic study of a neuroendocrine tumor of Merkel cells which appeared in a patient following a heart transplant. An abnormal karyotype was observed in a metastatic lymph node. The abnormality includes two markers derived from the long arm of chromosome 1, while maintaining two normal chromosomes 1.