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1.
Turk J Emerg Med ; 16(2): 53-56, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27896321

RESUMO

OBJECTIVES: We aimed to compare the performance of the C-MAC video laryngoscope (C-MAC) to the Macintosh laryngoscope for intubation of blunt trauma patients in the ED. MATERIAL AND METHODS: This was a prospective randomized study. The primary outcome measure is overall successful intubation. Secondary outcome measures are first attempt successful intubation, Cormack-Lehane (CL) grade, and indicators of the reasons for unsuccessful intubation at the first attempt with each device. Adult patients who suffered from blunt trauma and required intubation were randomized to video laryngoscopy with C-MAC device or direct laryngoscopy (DL). RESULTS: During a 17-month period, a total of 150 trauma intubations were performed using a C-MAC and DL. Baseline characteristics of patients were similar between the C-MAC and DL group. Overall success for the C-MAC was 69/75 (92%, 95% CI 0.83 to 0.96) while for the DL it was 72/75 (96%, 95% CI 0.88 to 0.98). First attempt success for the C-MAC was 47/75 (62.7%, 95% CI 0.51 to 0.72) while for the DL it was 44/75 patients (58.7%, 95% CI 0.47 to 0.69). The mean time to achieve successful intubation was 33.4 ± 2.5 s for the C-MAC versus 42.4 ± 5.1 s for the DL (p = 0.93). There was a statistically significant difference between the DL and C-MAC in terms of visualizing the glottic opening and esophageal intubation in favor of the C-MAC (p = 0.002 and p = 0.013 respectively). DISCUSSION AND CONCLUSION: The overall success rates were similar. The C-MAC demonstrated improved glottic view and decrease in esophageal intubation rate.

2.
Turk J Emerg Med ; 15(2): 59-63, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27336065

RESUMO

OBJECTIVES: Chronic Obstructive Pulmonary Disease (COPD) is associated with high mortality and morbidity and is projected to be the third most common cause of death worldwide by 2020. For a variety of reasons, there is a drive to manage a greater number of individuals as outpatients. Preventing readmissions can reduce associated morbidity and subsequent healthcare costs. METHODS: The aim of the present study was to determine the factors affecting the relapse of COPD exacerbated patients in the emergency department (ED). This study combines data from two prospective cohort studies. Patients included in the study were above 18 years of age, had a previous diagnosis of COPD, and presented to the ED for the treatment of acute exacerbation. All the information relevant to the study was collected during the patient's visit to the ED. Relapse was defined as an unscheduled visit to an ED or primary physician within 2 weeks of initial ED visit for worsening COPD symptoms. Telephone follow-up was done on all patients at the end of 2 weeks. RESULTS: The cohort consists of 196 patients. Relapse rate in this study was 27%. Mean respiratory rate, exacerbations in previous year, home nebulizator therapy, home oxygen therapy, admission to intensive care or hospital ward due to COPD exacerbation, previous intubation and abnormal chest x-ray were associated with increased re-visit in univariate analysis. However, after multivariate analysis, exacerbations in previous year (OR: 1.08, 95%CI: 1.01-1.15) and abnormal chest X-ray (OR: 2.5, 95%CI: 1.10-6.11) were still significant. CONCLUSIONS: In conclusion, the number of ED visits previous year and abnormal chest x-ray can predict the revisit of a COPD exacerbated patient within 14 days of an ED visit.

3.
Ulus Travma Acil Cerrahi Derg ; 18(5): 397-404, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23188600

RESUMO

BACKGROUND: The objective of this study was to determine the clinically important change in diagnostic accuracy and physical examination in the morphine vs. placebo group. METHODS: Subjects were randomized in a 1:1 ratio to receive a single dose intravenous morphine or placebo in a blinded fashion. Primary outcome measure was to determine if there was a clinically important change in diagnostic accuracy and physical examination in the morphine vs. placebo group. RESULTS: 80 subjects (39 were assigned to morphine and 41 to placebo) were included in the final analysis. Clinically important diagnostic accuracy rate was found to be 80% in the morphine group (31/39) and 78% in the placebo group (32/41), with a difference rate of 2% (95% CI -7% to 13%, p=0.9802. There was a statistically significant change in abdominal rigidity finding (15%) in morphine group in all of the abdominal physical examinations findings; however there was no change in placebo group (0%). The difference between two groups was also statistically significant (95% CI 2.3% to 30.5%, p= 0.031). CONCLUSION: Administration of opioid analgesia is safe and does not seem to impair clinical diagnostic accuracy in elderly patients with acute undifferentiated abdominal pain. Nevermore, opioids may change the physical examination findings such as abdominal rigidity.


Assuntos
Dor Abdominal/diagnóstico , Dor Abdominal/tratamento farmacológico , Dor Aguda/diagnóstico , Dor Aguda/tratamento farmacológico , Analgésicos Opioides/uso terapêutico , Morfina/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Método Duplo-Cego , Feminino , Humanos , Injeções Intravenosas , Masculino , Medição da Dor , Resultado do Tratamento
4.
Am J Emerg Med ; 29(1): 65-9, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20825776

RESUMO

OBJECTIVES: The purpose of this study is to examine the relation between end-tidal carbon dioxide (ETCO2) measurement and bicarbonate (HCO3) level reflecting the patient's metabolic status. METHOD: This prospective cross-sectional study has been carried out during a 3-month period in a tertiary care university hospital's emergency department (ED). During the study period, every spontaneously ventilating ED patient requiring arterial blood gas analysis for any medical indication, regardless of presenting symptoms, had a simultaneous ETCO2 measurement using a Medlab Cap 10 side stream capnograph. The demographics and clinical outcomes of the patients were recorded. RESULTS: Of 399 eligible patients, 240 with possible metabolic disturbance were enrolled into the study. There was a statistically significant correlation between the value of ETCO2 and HCO3 levels (r = 0.506). The mean ET(CO)2 level was statistically significantly lower in patients who died (26.5 ± 7.2, 95% confidence interval [CI], 24.2-28.6, vs 30 ± 7.5, 95% CI, 29-31; P = .007) and who had low bicarbonate levels (25.7 ± 6.7, 95% CI, 24.3-27.1, vs 31.6 ± 7.1, 95% CI, 30.4-32.8; P = .000). The value of ET(CO)2 measurement to detect low bicarbonate level was found to be significant. The area under the receiver operating characteristic curve was 0.734, the (+) likelihood ratio for ETCO2 less than or equal to 25 was 2.7, and the (-) likelihood ratio for ETCO2 greater than or equal to 36 was 0.05. CONCLUSION: ETCO2 values correlate moderately with HCO3 levels and thus might predict mortality and metabolic acidosis. Therefore, side stream capnograph can be used as a noninvasive diagnostic tool for ruling out suspected severe metabolic disturbance in the ED.


Assuntos
Capnografia/métodos , Doenças Metabólicas/diagnóstico , Acidose/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Bicarbonatos/sangue , Gasometria , Dióxido de Carbono/análise , Dióxido de Carbono/sangue , Estudos Transversais , Cetoacidose Diabética/diagnóstico , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Doenças Metabólicas/fisiopatologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Curva ROC , Adulto Jovem
5.
Eur J Emerg Med ; 18(1): 9-12, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20224417

RESUMO

We aimed to determine the value of sidestream end-tidal carbon dioxide (SS-ETCO2) measurement in patients with chronic obstructive pulmonary disease (COPD) in the emergency department. Cross-sectional associations between ETCO2 and PaCO2 were examined in the study. This prospective cross-sectional study has been carried out over a 3-month period in a tertiary care university hospital emergency department with an annual census of 75 000 visits. During the study period, simultaneous SS-ETCO2 measurement using a Medlab Cap 10 sidestream capnograph was performed on every COPD patient requiring arterial blood gas analysis. The demographics, diagnosis, vital signs, laboratory test results and clinical outcomes of the patients were recorded. SS-ETCO2 measurement and arterial blood gas analysis were carried out on 118 patients. Mean arterial PCO2 levels were 43.24±14.73 and mean ETCO2 levels were 34.23±10.86 mmHg. Agreement between PCO2 and ETCO2 measurements was 8.4 mmHg and a precision of 11.1 mmHg.As there is only a moderate correlation between PCO2 and ETCO2 levels in COPD patients, ETCO2 measurement should not be considered as a part of the decision-making process to predict PaCO2 level in COPD patients.


Assuntos
Dióxido de Carbono/análise , Serviços Médicos de Emergência , Doença Pulmonar Obstrutiva Crônica/sangue , Índice de Gravidade de Doença , Adulto , Idoso , Gasometria/métodos , Capnografia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Volume de Ventilação Pulmonar
6.
Hum Mutat ; 31(12): 1269-79, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20960466

RESUMO

Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. Of those where inheritance has been examined, 125 patients carry a de novo mutation and 72 an inherited mutation. Mutagenesis may be ascribed to slippage in 65.5% of indels, whereas CpG dinucleotides are involved in 23% of transitions. Using bioinformatic tools we show that gene conversion mechanism is not common in RP genes mutagenesis, notwithstanding the abundance of RP pseudogenes. Genotype-phenotype analysis reveals that malformations are more frequently associated with mutations in RPL5 and RPL11 than in the other genes. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database.


Assuntos
Anemia de Diamond-Blackfan/genética , Bases de Dados Genéticas , Mutação/genética , Ribossomos/genética , Anemia de Diamond-Blackfan/diagnóstico , Sequência de Bases , Estudos de Associação Genética , Humanos , Dados de Sequência Molecular , Mutagênese/genética , Proteínas Ribossômicas/genética
7.
Eur J Emerg Med ; 17(5): 283-5, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19829119

RESUMO

The primary purpose of this prospective cohort study was to characterize the use of the Emergency Department (ED) in patients with chronic obstructive pulmonary disease (COPD) exacerbations and determine the factors affecting the revisit of COPD patients. This is a prospective cohort study on ambulatory patients with exacerbated chronic bronchitis in an ED setting. Patients included in the study were above 18 years of age, had a previous diagnosis of COPD, and presented to the ED for the treatment of COPD exacerbation. All the information relevant to the study was collected during the patient's visit to the ED. Revisit was defined as an unscheduled visit to an ED or primary physician within 2 weeks of initial ED visit for worsening COPD symptoms. Telephone follow-up was done on all patients at the end of 2 weeks. Variables of 26 revisit cases versus 78 nonrevisit cases were compared. Home oxygen therapy, intensive care admission, previous intubation, increased cough, and the number of ED visits in the previous year were associated with increased risk of revisit in the univariate analysis. Increased cough (odds ratio: 0.232; 95% confidence interval: 0.063-0.853) and the number of ED visits in the previous year (odds ratio: 1.166; 95% confidence interval: 1.005-1.353) were still significant after multivariate analysis. In conclusion, the number of ED visits previous year and increased cough can predict the revisit of a COPD exacerbated patient within 14 days of an ED visit.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Doença Pulmonar Obstrutiva Crônica/complicações , Idoso , Assistência Ambulatorial , Intervalos de Confiança , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Masculino , Análise Multivariada , Razão de Chances , Valor Preditivo dos Testes , Estudos Prospectivos , Doença Pulmonar Obstrutiva Crônica/patologia , Retratamento/estatística & dados numéricos , Fatores de Risco , Telefone
8.
Am J Emerg Med ; 28(1): 32-6, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20006198

RESUMO

INTRODUCTION: None of the techniques used for confirmation of endotracheal tube (ET) placement are proven reliable 100% of the time. The purpose of our study is to determine whether ultrasound can accurately detect the passage of ET through the trachea and esophagus and to see whether this visualization is augmented with the use of a metal stylet. METHODS: A total of 7 physicians made assessments of ET positions using an ultrasound during their passage through the trachea or esophagus. A total of 40 esophageal and 40 tracheal intubations were performed randomly in a blinded fashion on a fresh, unfrozen human cadaver. Half were performed with a metal stylet and the other half without a stylet. RESULTS: During transtracheal assessment regardless of stylet use, correct identification of ET position was achieved in 275 of 280 esophageal intubations and 268 of 280 tracheal intubations. The overall sensitivity was 95.7%, and specificity was 98.2%. The presence and the absence of stylet was identified in 109 of 280 and in 155 of 280 attempts, respectively. Correct identification of stylet presence yielded a sensitivity of 38.9% and a specificity of 55.4%. Ultrasound can be used by emergency physicians to accurately detect the passage of ET through the trachea and esophagus; however, stylet use did not augment ET visualization.


Assuntos
Esôfago/diagnóstico por imagem , Intubação Intratraqueal/instrumentação , Traqueia/diagnóstico por imagem , Cadáver , Humanos , Método Simples-Cego , Ultrassonografia
9.
Eur J Emerg Med ; 16(2): 84-6, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19190495

RESUMO

OBJECTIVE: To determine if the serum levels of creatine kinase and myoglobin can be used to differentiate the grandmal tonic-clonic seizure and syncope activities in the emergency department (ED). METHODS: Consecutive patients over 16 years old who presented to an ED of a tertiary care hospital with a witnessed tonic-clonic seizure activity and a history of a transient loss of consciousness with normal neurological exams in the ED were selected to either seizure or syncope groups. Patients with an unclear history of seizure or syncope with more than 4 h of the activity and with any conditions that could elevate creatine kinase and myoglobin levels were excluded. Serum samples were drawn at presentation and at the fourth hour of the event. RESULTS: Thirty-seven syncope and 26 generalized tonic-clonic seizure patients with a definite history were assigned to study groups. There was not a statistically significant difference in the time of drawing of the first serum sample among groups. No statistically significant differences were determined with the first samples of creatine kinase and myoglobin for both groups. Serum levels of creatine kinase drawn at the fourth hour of the activity were significantly higher in favor of the seizure group. However, myoglobin levels were insignificant at the fourth hour. CONCLUSION: Serum creatine kinase measured at the fourth hour of loss of consciousness may be a potentially useful laboratory test to differentiate tonic-clonic seizure from syncope. Patently, it requires and warrants further study.


Assuntos
Creatina Quinase/sangue , Mioglobina/sangue , Convulsões/diagnóstico , Síncope/diagnóstico , Adulto , Diagnóstico Diferencial , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Convulsões/sangue , Sensibilidade e Especificidade , Síncope/sangue , Inconsciência/sangue , Inconsciência/tratamento farmacológico
10.
Eur J Emerg Med ; 16(1): 29-36, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19106717

RESUMO

BACKGROUND: The Glasgow Coma Scale (GCS) is the most widely used tool for the evaluation of the level of consciousness. The Full Outline of Unresponsiveness (FOUR) Score is a new coma Scale that was developed considering the limitations of the GCS, and has been found to be useful in an intensive care setting. We aimed to compare FOUR Score and GCS in the emergency setting. METHODS: All patients older than 17 years who presented with an altered level of consciousness, after any trauma to the head or with neurological complaints were included in this study. Three-month mortality, in-hospital mortality, and poor outcome using a Modified Rankin Scale (MRS) of 3-6 points were used as the primary outcome measures. RESULTS: A total of 185 patients were included in the study. Area under the curve (AUC) values in predicting 3-month mortality for GCS was 0.726 [P=0.0001 and 95% confidence interval (CI): 0.656-0.789] and 0.776 (P=0.0001 and 95% CI: 0.709-834) for FOUR Score. AUC in predicting hospital mortality for GCS was 0.735 (P=0.0001 and 95% CI: 0.655-0.797) and 0.788 (P=0.0001 and 95% CI: 0.722-0.844) for FOUR Score. AUC in predicting poor outcome (Modified Rankin Scale: 3-6) was 0.720 (P=0.001 and 95% CI: 0.650-784) for GCS and 0.751 (P=0.0001 and 95% CI: 0.682-0.812) for FOUR Score. CONCLUSION: The new coma Scale, FOUR Score, is not superior to the GCS. However, the combination of the eye and motor components of FOUR Score is a valuable tool that can be used instead of either the FOUR Score or GCS.


Assuntos
Transtornos da Consciência/diagnóstico , Serviço Hospitalar de Emergência , Escala de Coma de Glasgow , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Adulto Jovem
11.
Int J Emerg Med ; 2(2): 99-105, 2009 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-20157451

RESUMO

BACKGROUND: Logistic regression is the most common statistical model for processing multivariate data in the medical literature. Artificial intelligence models like an artificial neural network (ANN) and genetic algorithm (GA) may also be useful to interpret medical data. AIMS: The purpose of this study was to perform artificial intelligence models on a medical data sheet and compare to logistic regression. METHODS: ANN, GA, and logistic regression analysis were carried out on a data sheet of a previously published article regarding patients presenting to an emergency department with flank pain suspicious for renal colic. RESULTS: The study population was composed of 227 patients: 176 patients had a diagnosis of urinary stone, while 51 ultimately had no calculus. The GA found two decision rules in predicting urinary stones. Rule 1 consisted of being male, pain not spreading to back, and no fever. In rule 2, pelvicaliceal dilatation on bedside ultrasonography replaced no fever. ANN, GA rule 1, GA rule 2, and logistic regression had a sensitivity of 94.9, 67.6, 56.8, and 95.5%, a specificity of 78.4, 76.47, 86.3, and 47.1%, a positive likelihood ratio of 4.4, 2.9, 4.1, and 1.8, and a negative likelihood ratio of 0.06, 0.42, 0.5, and 0.09, respectively. The area under the curve was found to be 0.867, 0.720, 0.715, and 0.713 for all applications, respectively. CONCLUSION: Data mining techniques such as ANN and GA can be used for predicting renal colic in emergency settings and to constitute clinical decision rules. They may be an alternative to conventional multivariate analysis applications used in biostatistics.

12.
Eur J Emerg Med ; 15(4): 214-7, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19078817

RESUMO

BACKGROUND: Tourists are exposed to traditional health problems of the host country, such as trauma and the exacerbation of previously existing illnesses during their travels. OBJECTIVE: The purpose of this study is to determine the clinical characteristics of tourist patients and any predictors of hospital admission. MATERIAL AND METHOD: This retrospective observational study was carried out in the tertiary care hospital emergency department (ED) of a Mediterranean destination city, Antalya, Turkey. Hospital data from all tourist patients presenting or transferred to the ED between August 2003 and September 2004 were evaluated. Tourist patients were defined as all non-Turkish citizens. RESULTS: A total of 961 tourist patients was studied, of whom 295 (31%) were admitted and 666 (69%) were discharged. Fifteen patients died in the hospital, 49 critically ill patients were transferred back to their home country, and 153 patients underwent a surgical intervention. The most common discharge diagnoses were trauma (405, 42%), nonspecific symptoms (106, 11%), and circulatory disorders (108, 11%). Admitted tourist patients were significantly older than those discharged; however, there were no differences in sex among the groups. Applying a logistic regression model, age, tachycardia, mode of arrival, and triage category were all found to be significant predictors of admission, but only the initial Glasgow Coma Scale was found to be a significant predictor of mortality. In total, 347 patients were from European Union (EU) countries, and 614 were from non-EU countries. A significant difference was found between the EU and non-EU patient groups according to age, mortality, admission rate, exposure to trauma, ED length of stay, hospital length of stay. Tourist patients from EU countries were older, had higher mortality, lesser trauma exposure, longer ED, and hospital length of stay. CONCLUSION: EDs can be expected to manage tourist patients presenting for traumatic injuries and circulatory disorders. Clinical differences relating to patients' nationality might help in the development of targeted patient education and injury-prevention programs. Emergency physicians and the tourism industry should recognize the challenges of caring for this growing and aged patient population.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Viagem/estatística & dados numéricos , Estado Terminal , Humanos , Internacionalidade , Tempo de Internação/estatística & dados numéricos , Modelos Logísticos , Prontuários Médicos , Estudos Retrospectivos , Turquia
13.
Urol Res ; 35(6): 307-12, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17957364

RESUMO

We studied the role of duplex Doppler ultrasonography in the diagnosis of renal obstruction caused by ureteral calculi. Using duplex Doppler sonography, we evaluated the intrarenal hemodynamics of 27 patients who presented to the emergency department with renal colic. We performed Doppler ultrasonography on patients in whom US did not reveal any pathology causing renal colic and calculated and compared mean RI values of normal and obstructed kidneys and DeltaRI values of each group. Threshold levels for the diagnosis of urinary tract obstruction (mean RI > or = 0.70 and DeltaRI > or = 0.08) were used to determine the sensitivity and specificity of Doppler sonography for the diagnosis of urinary tract obstruction. Patients were investigated for revealing calculi diagnosis either by stone excretion history, intravenous pyelography or non contrast enhanced urinary computed tomography. A total of 162 intrarenal arterial Doppler recordings were made on 54 kidneys. Of the 16 patients with urinary obstruction, 11 (68%) had sonographic evidence of pelvicalyceal dilatation. The mean RI of the 16 obstructed and 11 unobstructed kidneys was 0.69 +/- 0.04 and 0.61 +/- 0.06 (mean +/- standard deviation), respectively. The difference between the mean RI values for each group was statistically significant (P < 0.05). Mean RI values of the contralateral kidneys in the obstructed group and unobstructed group were 0.61 +/- 0.03 and 0.59 +/- 0.05, respectively. Also DeltaRI value (0.07 +/- 0.02) of obstructed kidney group was statistically higher than the DeltaRI value (0.01 +/- 0.03) of the unobstructed group (P < 0.05). The mean RI of the 16 obstructed kidneys (0.69 +/- 0.04) was significantly greater than that of the 16 unobstructed contralateral kidneys (0.61 +/- 0.03) (P < 0.05). This study supplements the existing evidence that, in acutely obstructed kidneys, renal Doppler recording can demonstrate altered renal perfusion before pelvicalyceal system dilatation and distinguish obstructed and unobstructed kidneys evaluated with suspicion of renal colic.


Assuntos
Cólica/diagnóstico por imagem , Ultrassonografia Doppler Dupla , Cálculos Ureterais/diagnóstico por imagem , Obstrução Ureteral/diagnóstico por imagem , Adolescente , Adulto , Idoso , Cólica/etiologia , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Cálculos Ureterais/complicações , Obstrução Ureteral/etiologia
14.
Cancer Genet Cytogenet ; 161(2): 116-24, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16102581

RESUMO

In multiple myeloma, additional copies of chromosome 11 material, reported to confer an unfavorable prognosis, have been found in 20-45% of patients. To assess the incidence and extent of chromosome 11 aberrations, we performed interphase fluorescence in situ hybridization on CD138+ bone marrow plasma cells of 50 newly diagnosed myeloma patients, using seven locus-specific probes for chromosome 11, one for 13q14.3, and a probe set for translocation t(11;14). In 33 of 50 patients, chromosome 11 aberrations were found. Results indicated a marked intraclonal heterogeneity: in 13 patients, trisomy 11; in 10 patients, subclones with trisomy 11 and partial trisomies 11q coexisted; in 6 patients, only a partial trisomy 11q; and in 6 patients, a tetrasomy or partial tetrasomy 11. The coexistence of subclones with varying extent and copy numbers of chromosome 11 material indicates ongoing structural changes and clonal evolution. Hybridization results delineated 11q23 and 11q25 as the most frequently gained regions, which supports a relevant pathogenetic role of genes on 11q23 and 11q25. To confirm the high incidence of 11q23 gains, a further 50 patients (total n=100) were analyzed for 11q23 and 13q14.3. Myeloma with gains of 11q23 showed a low frequency of deletion 13q14.3 and may prove to be a distinct subgroup of this disease.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 11 , Hibridização in Situ Fluorescente/métodos , Mieloma Múltiplo/genética , Adulto , Idoso , Cromossomos Humanos Par 13 , Células Clonais , Sondas de DNA , Feminino , Heterogeneidade Genética , Humanos , Incidência , Interfase , Masculino , Pessoa de Meia-Idade , Translocação Genética
15.
Genes Chromosomes Cancer ; 44(2): 194-203, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16001433

RESUMO

To delineate multiple myeloma (MM) subgroups and their clonal evolution, we analyzed 81 newly diagnosed patients by interphase fluorescence in situ hybridization using a comprehensive probe set for 10 chromosomes and two IGH rearrangements. A median of 5 probes per patient displayed aberrant signal numbers (range, 1-10). Additional copies most frequently found were for 15q22, 19q13, 9q34, 11q23, and 1q21. Losses commonly observed were of 13q14.3, 17p13, and 22q11. Predominance of gain or loss was quantified by a copy number score (CS) for each patient. Two peaks (CS = +3 and CS = 0) were found by plotting patient copy number scores over CS values corresponding to hyperdiploid and nonhyperdiploid MM. Cluster analysis revealed four major branches: (i) gain of 9q, 15q, 19q, and/or 11q; (ii) deletion of 13q and t(4;14); (iii) t(11;14); and (iv) gain of 1q. Statistical modeling of an oncogenetic tree indicated that early independent events were gain of 15q/9q and/or 11q, t(11;14); deletion of 13q followed by t(4;14); and gain of 1q. Aberrations of 17p13, 22q11, 8p12, and 6q21 were found as subsequent events. MM with gain of 1q was delineated as a subentity with significantly higher beta-2-microglobulin and lower hemoglobin levels, indicating a poor prognosis. From our results, we propose a model of MM for clonal evolution.


Assuntos
Evolução Molecular , Interfase/genética , Modelos Genéticos , Mieloma Múltiplo/classificação , Humanos , Hibridização in Situ Fluorescente , Modelos Moleculares , Mieloma Múltiplo/genética
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