RESUMO
OBJECTIVE: The Haller index (HI) is widely used to indicate surgical intervention in patients with pectus excavatum (PE). However, in patients with an atypical thoracic morphology, the severity of the defect can be incorrectly estimated. We propose comparing this index with the correction index (CI). MATERIAL AND METHODS: We analyzed clinical data and CT scans of 50 patients who consulted for PE in our center between 2010 and 2017. Haller index (HI), Correction index (CI) and ideal thoracic index (ITI) were calculated for each patient. The ITI allowed dividing the sample into two groups based on the thoracic morphology by excluding the PE component, therefore separating those with thorax too wide or too narrow from the standard patients. A standard group (36 patients) and a non-standard group (14 patients) were generated, among which the HI and the CI were correlated. RESULTS: The mean HI and CI of all patients were 3.99 and 27%, respectively. 31 of the 50 patients (62%) underwent intervention, 8 of them with an HI below 3.25. When comparing both groups, there was a moderate correlation between HI and CI in the standard group (Spearman r 0.799, p <0.01) and a greater correlation in the non-standard group (Spearman r 0.858, p <0.01).ween the scale and the presence of foreign body, except for SCORE 1, which was 57% what we attribute to an information bias. If the foreign body were not nuts, inorganic or bone, its aspiration was very unlikely, that is why we included it in the SCORE with -1. CONCLUSION: In our cohort, correlation of HI and CI was not different between both groups of patients. The CI did not prove its superiority when compared to HI in the surgical indication of patients with PE.
OBJETIVO: El índice de Haller (IH) se utiliza ampliamente para indicar la intervención quirúrgica en pacientes con pectus excavatum (PE). Sin embargo, en pacientes con una morfología torácica atípica, puede estimarse erróneamente la severidad del defecto. Planteamos comparar este índice con el índice de corrección (IC). MATERIAL Y METODOS: Analizamos datos clínicos y TC torácicos de 50 pacientes que consultan por PE en nuestro centro entre 2010 y 2017. Para cada paciente, se recalcula el índice de Haller (IH), el índice de corrección (IC) y el índice torácico ideal (ITI). El ITI permite formar dos grupos en base a la morfología torácica excluyendo el componente del PE, separando aquellos con tórax demasiado anchos o estrechos, de los pacientes estándar. Se genera un grupo estándar (36 pacientes) y un grupo no-estándar (14 pacientes), entre los que se correlacionan el IH y el IC. RESULTADOS: El IH y el IC medio de todos los pacientes fue de 3,99 y 27%, respectivamente. Se intervinieron 31 de los 50 pacientes (62%), 8 de ellos con un IH inferior a 3,25. Al comparar ambos grupos, existe una correlación moderada entre IH e IC en el grupo estándar (r Spearman 0,789; p<0,01) y una correlación mayor en el grupo no-estándar (r Spearman 0,858; p<0,01). CONCLUSION: En nuestra cohorte, no se ha probado que la correlación del IH y el IC sea diferente entre ambos grupos de pacientes. El IC no ha demostrado tener mayor validez que el IH en la indicación quirúrgica del PE.
Assuntos
Tórax em Funil/patologia , Tomografia Computadorizada por Raios X/métodos , Adolescente , Criança , Feminino , Tórax em Funil/diagnóstico por imagem , Tórax em Funil/cirurgia , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
OBJECTIVES: To evaluate the social awareness of the risk of nuts aspiration and the relationship with the occupation of parents. MATERIAL AND METHODS: From January 2013 to January 2014, a self-designed survey was distributed to 247 parents of patients under 14 years admitted to our centre, regardless of the reason for admission. The statistical significance was calculated using confidence intervals (CI). The Pearson Chi-square test was used to analyse the ignorance of this problem depending on the educational level extrapolated from the occupation of respondents. RESULTS: 247 parents responded to the survey. 60.3% (95% CI 54.1-66.2%) confirmed that nuts were included in birthday parties. 30.4% (95% CI 25-36.4%) confirmed that celebrations with nuts at their children's nursery were made. 42.1% (95% CI 36.1-48.3%) believed that nuts were harmless for their young children. The age of administration of nuts was independent on the educational level extrapolated of parents (χ2 = 10.721, p = 0.295), although it did influence on the ignorance of the danger of nuts (41.2% (95% CI 30.3-53%) of respondents with occupations that required higher educational level compared to 55.4% (95% CI 42.4-67.6%) of those with occupation that required less educational level (χ2 = 14.678, p = 0.002)). CONCLUSIONS: Regardless of the occupation, there is widespread ignorance concerning the age of introduction of nuts in children's diet. Given the incidence and severity of the risk of aspiration, more prevention programs are necessary, and Health Authorities should take side in public awareness of this problem.
Assuntos
Corpos Estranhos/complicações , Nozes/efeitos adversos , Ocupações/estatística & dados numéricos , Pais , Adulto , Pré-Escolar , Coleta de Dados , Escolaridade , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Pessoa de Meia-Idade , RiscoRESUMO
Classic treatment for pyriform sinus fistula (PSF) has been surgical excision; however, less invasive therapeutic alternatives whose aim is the obliteration of the sinus have been described subsequently. The authors present a technical modification of endoscopic sclerosis with diathermy (ESD): continuous infusion of air flow through the flexible endoscope was used to distend the pyriform sinus and facilitate recognition of the fistula opening. The sinus obliteration was performed with a wire guide and diathermy. In the last 15 years, 9 patients were diagnosed of suffering from PSF in our institution. Initial treatment was antibiotics therapy associated in some cases to cervical abscess drainage. Fistulectomy was performed in 4 cases and ESD in 4. The ninth patient received both treatments, performing electrocauterization after a surgical recurrence. Three of the patients who underwent surgery relapsed; none treated by ESD did, or had any complications. In our experience, endoscopic sclerosis with pneumatic distension is a simple technique, reproducible, not invasive and very effective; hence we consider it might become a first line therapy for PSF.
Assuntos
Diatermia/métodos , Endoscopia/métodos , Fístula/cirurgia , Seio Piriforme/anormalidades , Abscesso , Criança , Pré-Escolar , Dilatação/métodos , Eletrocoagulação/métodos , Feminino , Fístula/patologia , Humanos , Lactente , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Recidiva , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Although not definitively proven, there is commonly accepted to be a latitudinal gradient in the distribution of multiple sclerosis (MS), which is more frequent in temperate zones. The European Mediterranean countries are situated in a zone of median frequency, although ever increasing figures have been noted in the last decades. OBJECTIVE: The objective of this study was to assess the current prevalence rate of MS in the province of Malaga, Southern Spain. METHODS: The capture-recapture method (CRM) uses independent sources of data and permits the number of non-registered cases of a given disease to be estimated, and by doing so, to avoid ascertainment bias. RESULTS: Use of this method showed the estimated prevalence rate of MS in the province of Malaga, Southern Spain, to be 125/10(5) (95% confidence interval: 102/10(5)-169/10(5)), higher than the figures published previously. CONCLUSIONS: Although we recognize that these data need to be confirmed in further studies and in other areas of the country using a similar method, we believe this study is the first to find such high figure of prevalence, being very similar to the figures reported in recent years in other southern European countries.
Assuntos
Esclerose Múltipla/epidemiologia , Coleta de Dados/métodos , Feminino , Humanos , Masculino , Prevalência , Espanha/epidemiologiaRESUMO
OBJECTIVE: To present a new technique using the Kehr's T tube (KT) in complex intestinal anastomoses. MATERIALS AND METHODS: Restrospective descriptive analysis of 8 patients intervened from 2007 to 2011. We performed intestinal anastomoses guided by a KT in 7 patients with intestinal atresia (yeyunal n = 5, ileal n = 1, duodenal n = 1), and in 1 patient with yeyunal stenosis associated with gastroschisis. 4 cases (50%) were reoperations because of complications after the first surgery. SURGICAL TECHNIQUE: the KT is introduced through the dilated proximal bowel. The proximal end of the "T" is tied and the distal one acts as a transanastomotic guide and feeding tube. The long end of the T is externalized through the skin and used for the administration of the enteral nutrition formula. Studied variables were: beginning of enteral feeding, feeding time through the KT, time of intestinal motility recovery, time to complete oral feeding and complications. RESULTS: There were no complications derived from the technique. Feeding was started through the KT between day 2 and 10 (median: 4.5), with a period of 4 to 33 days (median: 7). Patients started intestinal transit between days 2 and 7 (median: 3.5). Reoperated patients showed cholestasis and/or sepsis signs, which were solved with surgery. The KT was left in place between 11-51 days (median: 22), with no complications during or after the removal. CONCLUSIONS: The results of this preliminary study suggests that the use of the KT in complex anastomoses as a transanastomotic guide and feeding tube presents advantages, such as early enteral feeding and prevention of leakage and kinking of the intestinal suture. There were no complications derived from the procedure. As far as we know, this technique has not been previously reported in the literature.
Assuntos
Atresia Intestinal/cirurgia , Intestinos/cirurgia , Intubação/instrumentação , Anastomose Cirúrgica/instrumentação , Feminino , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
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.
Assuntos
Proteínas E1A de Adenovirus/metabolismo , Genes Virais/fisiologia , Proteínas de Fusão Oncogênica/genética , Oncogenes/genética , Sarcoma de Ewing/genética , Fatores de Transcrição/genética , Proteínas E1A de Adenovirus/genética , Adenovírus Humanos/genética , Sequência de Bases , Linhagem Celular , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 22/genética , Fibroblastos , Regulação Neoplásica da Expressão Gênica , Genes Virais/genética , Humanos , Hibridização in Situ Fluorescente , Queratinócitos , Dados de Sequência Molecular , Peso Molecular , Mutação , Proteínas de Fusão Oncogênica/biossíntese , Oncogenes/fisiologia , Proteína Proto-Oncogênica c-fli-1 , RNA Mensageiro/análise , RNA Mensageiro/genética , Proteína EWS de Ligação a RNA , Sarcoma de Ewing/metabolismo , Fatores de Transcrição/biossíntese , Translocação Genética/genéticaRESUMO
In recent years we have observed in our country an increase in complications associated with bacterial pneumonia, such as pleural effusion and empyema. The initial treatment is an association of antibiotics, covering the potential germ involved, and the placement of a pleural drainage tube, in order to accelerate the resolution process. Formation of septa within the pleural cavity requires additional therapy (antifibrinolytic treatment, videothorascopy), but no one of these two alternatives is been demonstrated better than the other. We present a review that covers last 15 years (1990-2006), related to management of empyema. The management strategy with initial instillation of antifibrinolytic intrapleural makes our series the longest in our country using such treatment (30 of 50 patients reviewed (60) were treated with this technique). Initial success was 96% with this modality, without rescuing surgery. There is also a descriptive analysis of several clinical, laboratory and radiological parameters. In comparative analysis, length of stay in intensive care unit decreases in those patients treated with antifibrinolytics. This result is a prove of the efficacy of this treatment, and quite encourageing.
Assuntos
Empiema Pleural/tratamento farmacológico , Fibrinolíticos/uso terapêutico , Ativador de Plasminogênio Tipo Uroquinase/uso terapêutico , Adolescente , Antifibrinolíticos/uso terapêutico , Criança , Pré-Escolar , Empiema Pleural/etiologia , Feminino , Humanos , Lactente , Masculino , Derrame Pleural/complicações , Estudos RetrospectivosRESUMO
OBJECTIVE: Retrospective and descriptive study of patients with diagnosis of Hirschsprung disease (HD) in whom transanal pull-through was performed in our center. MATERIAL AND METHODS: All patients with diagnosis of HD in whom transanal surgery was performed between 2006 and 2018 in our center were selected. In all cases laparoscopic biopsy was performed in the previous dilated area. Once intraoperatory biopsy revealed the presence of ganglionic cells, transanal De la Torre surgery was performed, until reaching the localization of the biopsied area. Circular automatic suture was performed in all cases. RESULTS: Surgery was performed in 21 patients (16 boys and 5 girls) with a median age of 12 months (5-62). No patient had enterocolitis. The median resection length was 14.5 cm (3-45) and no intraoperative complications happened. One patient (5%) developed a rectosigmoideal abscess, which was solved with antibiotic. One case (5%) needed another surgery due to umbilical trochar eventration. No patient had enterocolitis after the surgery. One patient (5%) had stenosis, solved by its section and other case (5%) had sleeve compression which was solved by laparoscopic section. After a median follow up of 97 months (12-159), one child (5%) developed encopresis, which is treated with periodic anal irrigations and other patient (5%) has chronic constipation, which require periodic enemas. The rest of the patients have no symptomatology. CONCLUSION: In conclusion, in our series of cases, transanal pull-through with circular automatic suture was a safe and useful technique. It has a low rate of operative and postoperative complications and provides good prospective results.
OBJETIVO: Estudio retrospectivo descriptivo de pacientes con enfermedad de Hirschsprung (EH) intervenidos en nuestro centro por vía transanal. MATERIAL Y METODOS: Se seleccionaron a los pacientes con diagnóstico de EH intervenidos por vía transanal con sutura automática circular en nuestro centro entre los años 2006 y 2018. Se realizó biopsia laparoscópica de la zona previa a la dilatación en todos los casos. Tras la confirmación de la presencia de células, se procedió al descenso transanal tipo De la Torre hasta alcanzar la zona de la biopsia. La anastomosis se realizó con sutura automática circular (CEEA 21 o 25 mm). RESULTADOS: Se intervinieron 21 pacientes, 16 niños y 5 niñas, con una mediana de edad de 12 meses (5-62). Ningún paciente presentó enterocolitis preoperatoria. La mediana de la longitud resecada fue de 14,5 cm (3-45), sin incidencias intraoperatorias. Un paciente (5%) presentó absceso rectosigmoideo postoperatorio, resuelto con antibióticos. Un caso (5%) necesitó de nueva cirugía por eventración del acceso umbilical. Un paciente (5%) presentó estenosis, resuelta mediante sección y otro (5%) compresión del manguito seromuscular, que fue tratada con sección laparoscópica. No hubo casos de enterocolitis postoperatoria. Tras una mediana de seguimiento de 97 meses (12-159), un niño presenta encopresis (5%) tratada mediante sistema de irrigaciones transanales periódicas y otro caso (5%) cursa con estreñimiento, en tratamiento con enemas periódicos. El resto se hallan asintomáticos. CONCLUSION: En definitiva, podemos afirmar que en nuestra serie el descenso transanal con sutura automática circular es una técnica segura y eficaz, que presenta una tasa baja de complicaciones intra y postoperatorias, con buenos resultados a largo plazo.
Assuntos
Doença de Hirschsprung/cirurgia , Técnicas de Sutura , Canal Anal , Pré-Escolar , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVE: To compare the anatomical relations between brachiocephalic trunk (BT), trachea, spine and sternum in patients with Innominate Artery Compressing Syndrome (IACS) and control patients. METHODS: Retrospective case-control study of patients diagnosed with IACS in our center, in whom vascular computerized tomography (CT) was performed. The CT were compared with those of control patients free of obstructive respiratory pathology, without congenital heart disease and free of deforming thoracic mass, in whom CT was performed due to other reason. Each case was paired with three controls per case, in similar age groups. The significance value was set as p<0,05. RESULTS: Nine cases were included (7 boys and 2 girls) with their 27 respective controls (20 boys and 7 girls). The BT origin position with respect to the trachea, thought as a clock face, was 01:30 (00:30- 03:00) in cases and 01:30 (00:30-02:30) in controls. No differences were observed (p=0.72). The relation between anteroposterior/transversal tracheal diameters was 0.44 (0.184-0.6) in cases, 0.885 (0.64-1.16) in controls. The sternum-trachea/sternum-vertebra relation was 0.685 (0.6-0.76) in cases, 0.67 (0.49-0.79) in controls. No differences were observed (p=0.75). The angle of thoracic kyphosis was 29º (9º-34º) in cases, 24º (4º-33º) in controls. There were no statistically significant differences (p=0.45). CONCLUSIONS: We found no differences between the two groups in the BT origin in relation to the trachea. In all cases, the origin was on the left side of the body. Therefore, we question the premise that IACS is due to a more left origin of BT.
OBJETIVO: Analizar las distintas relaciones anatómicas entre el tronco braquiocefálico (TB), la tráquea, la columna vertebral y el esternón en pacientes diagnosticados de síndrome de compresión de la arteria innominada (SCAI) y compararlas con las de los pacientes controles. METODOS: Estudio retrospectivo de casos y controles de los pacientes diagnosticados de SCAI en nuestro centro, a los que se realizó una tomografía computarizada con contraste (TC) y/o resonancia magnética (RM). Se compararon con pacientes controles, elegidos entre enfermos sin malformación cardiaca ni masa torácica deformante, y a los que se les había realizado una TC vascular torácico por distintos problemas respiratorios no obstructivos. Por cada caso, se seleccionaron tres controles, agrupándolos por grupos de edades. Se estableció pp<0,05 como valor de significancia estadística. RESULTADOS: Se incluyeron 9 casos (7 niños y 2 niñas) y 27 controles (20 niños y 7 niñas). Se estudió en cortes transversales de la TC la posición horaria del nacimiento del TB respecto a la tráquea, resultando en los casos una posición mediana correspondiente a las 01:30 (00:30- 03:00) y en los controles a las 01:30 (00:30-02:30), sin hallarse diferencias significativas (p= 0,72). Se midió el ratio entre el diámetro anteroposterior/diámetro transverso de la tráquea, este fue de 0,44 (0,184-0,6) en los casos y 0,885 (0,64-1,16) en los controles (p=0,00001). El ratio de la distancia esternón-tráquea/esternón-columna fue 0,685 (0,6-0,76) en los casos y 0,67 (0,49-0,79) en los controles (p=0,75). El ángulo de la cifosis torácica fue 29º (9-34) en los casos y 24º (4-33) en los controles (p=0,45). CONCLUSIONES: No observamos la existencia de diferencias en el nacimiento del TB en pacientes con SCAI respecto a la población general. El TB nace en todos los niños en el lado izquierdo del cuerpo, poniendo en duda que el SCAI sea debido a un nacimiento más izquierdo del TB.
Assuntos
Tronco Braquiocefálico/anatomia & histologia , Doença Arterial Periférica/diagnóstico por imagem , Coluna Vertebral/anatomia & histologia , Esterno/anatomia & histologia , Tomografia Computadorizada por Raios X , Traqueia/anatomia & histologia , Doenças da Traqueia/etiologia , Tronco Braquiocefálico/diagnóstico por imagem , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pressão , Estudos Retrospectivos , Coluna Vertebral/diagnóstico por imagem , Esterno/diagnóstico por imagem , Síndrome , Traqueia/diagnóstico por imagemRESUMO
Since little is known about the prevalence of multiple sclerosis (MS) in Spain, we undertook an epidemiologic study to ascertain the prevalence of MS in the Sanitary District of Vélez-Málaga, close to the city of Málaga, in southern Spain. The crude prevalence rate of MS in Vélez-Málaga was 53 per 100,000, twice as high as the prevalence previously reported in both the city and province of Málaga. The MS prevalence in the Sanitary District of Vélez-Málaga is similar to that in Sicily and in Cyprus.
Assuntos
Esclerose Múltipla/epidemiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Espanha/epidemiologiaRESUMO
Clonal chromosome changes have been found in two patients with Waldenström's macroglobulinemia (WM). In one, the changes were only numerical: trisomy 3, trisomy 18, and monosomy 21. In the other, both numerical and structural changes were observed, among which t(8;14) with breakpoints (q24;q32), similar to those found in Burkitt's lymphoma, was the most relevant. This association between a new lymphoproliferative process and the Burkitt-type t(8;14) is stressed.
Assuntos
Cromossomos Humanos 13-15 , Cromossomos Humanos 6-12 e X , Translocação Genética , Macroglobulinemia de Waldenstrom/genética , Idoso , Aneuploidia , Cromossomos Humanos 1-3 , Humanos , Cariotipagem , Masculino , TrissomiaRESUMO
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.
Assuntos
Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 2 , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicas/complicações , Idoso , Transtornos Cromossômicos , Feminino , HumanosRESUMO
A patient with a myelodysplastic syndrome and a 12q deletion was studied and followed-up. After 10 years and several cytogenetic studies, it is suggested that this abnormality can be the sole chromosomal change in myelodysplastic syndromes.
Assuntos
Anemia Refratária com Excesso de Blastos/genética , Deleção Cromossômica , Cromossomos Humanos Par 12 , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
A number of chromosomes other than chromosome No. 8 participate in formation of the 14q+ marker in lymphoproliferative disorders. Among them is chromosome No. 11 which appears to be important because its break points are constant; it is also possibly significant because of its participation in cytogenetic alterations in B-cell disorders.
Assuntos
Cromossomos Humanos 13-15 , Cromossomos Humanos 6-12 e X , Leucemia de Células Pilosas/genética , Linfoma não Hodgkin/genética , Translocação Genética , Bandeamento Cromossômico , Humanos , Cariotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
We report the case of a patient with a myeloproliferative syndrome and traits of myelodysplasia and myelofibrosis whose karyotype showed 5q and 13q deletions, as well as Philadelphia chromosome negativity. A molecular biology study performed by Southern blot, with a probe covering the M-bcr region, led to detection of three bands other than the germinal ones, which hints at the possible existence of two cut points in the M-bcr region of an allele, or participation of both alleles. The patient presented a complex hematological picture, which might be explained on the basis of the cytogenetic and molecular findings.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 5 , Proteínas de Fusão bcr-abl/genética , Rearranjo Gênico , Transtornos Mieloproliferativos/genética , Cromossomo Filadélfia , Southern Blotting , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
High resolution chromosome analysis was performed on bone marrow cells from four patients with acute promyelocytic leukemia and t(15;17), and in lymphocytes from two unrelated, phenotypically normal persons with an apparently identical constitutional translocation. Scrutiny of prophase-prometaphase chromosomes localized the breakpoints in all six cases to subbands 15q22.3 and 17q11.2. Molecular genetic studies have localized the oncogene c-erbA to chromosome #17 between the breakpoints of the constitutional and the acquired anomaly. The present results, therefore, map c-erbA to subband 17q11.2.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos 13-15/ultraestrutura , Cromossomos Humanos 16-18/ultraestrutura , Leucemia Mieloide Aguda/genética , Oncogenes , Proto-Oncogenes , Translocação Genética , Transtornos Cromossômicos , Mapeamento Cromossômico , HumanosRESUMO
We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.
Assuntos
Aberrações Cromossômicas , Fragilidade Cromossômica , Cromossomos Humanos Par 16 , Leucemia Mieloide Aguda/genética , Linfoma Folicular/genética , Idoso , Feminino , Humanos , Cariotipagem , Masculino , Translocação GenéticaRESUMO
We have observed three patients with t(4;11)(q21;q23) among the 50 cases of ALL studied. Two were classified as L1 and the third as L3. We comment on the relationship between the morphologic classification of leukemias and the association with a t(4;11).
Assuntos
Cromossomos Humanos Par 11 , Cromossomos Humanos Par 4 , Leucemia Linfoide/genética , Translocação Genética , Medula Óssea/patologia , Pré-Escolar , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , Linfócitos/citologia , Masculino , Metáfase , Pessoa de Meia-IdadeRESUMO
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.