Your browser doesn't support javascript.
Show: 20 | 50 | 100
Results 1 - 20 de 2.466
Rev. argent. salud publica ; 13: 1-8, 5/02/2021.
Article in Spanish | LILACS, BINACIS, ARGMSAL | ID: biblio-1147271


INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de anomalías estructurales de las cavidades cardíacas o de los grandes vasos, con una prevalencia mundial de 6 a 9 por 1000 nacimientos. En Argentina constituyen un tercio de las anomalías congénitas (AC) al nacimiento. Si bien su etiología es heterogénea, se ha observado recurrencia familiar acorde con la influencia de factores genéticos. El objetivo del estudio fue evaluar la presencia de anomalías cromosómicas, desbalances genómicos o variantes de secuencias en una muestra de niños afectados con CC en Argentina. MÉTODOS: Se incluyó a 289 pacientes con CC de hasta 16 años. Se realizó un cariotipo para pacientes con otras AC y análisis por amplificación múltiple de sondas dependiente de ligación (MLPA) de regiones genómicas asociadas a CC para aquellos con CC conotroncales. En muestras seleccionadas, se analizaron desbalances genómicos por microarreglos de ADN (array-CGH) o variantes de secuencia en el gen NKX2-5. RESULTADOS: Hubo 9 pacientes que presentaron anomalías cromosómicas, 21 desbalances por MLPA y 8 por array-CGH. No se hallaron variantes patogénicas en NKX2-5 en los casos estudiados. DISCUSIÓN: Se halló la causa de la afección en el 13% de los casos analizados. El estudio de pacientes con CC aisladas o asociadas a otras AC no había sido abordado previamente en Argentina mediante este algoritmo

Chromosome Aberrations , Genetics, Medical , Heart Diseases
Article in Chinese | WPRIM | ID: wpr-880156


OBJECTIVE@#To investigate the clinical characteristics and prognosis of patients with medium and high risk myelodysplastic syndrome (MDS).@*METHODS@#97 MDS patients above the age of 60 treated in Nanfang Hospital, Southern Medical University from February 2011 to August 2020 were enrolled. The clinical characteristics and prognosis of the MDS patients with medium risk, high risk or very high risk based on IPSS-R category were retrospectively analyzed. According to the difference of treatment regimes, the patients were divided into the transplantation group, chemotherapy group and other treatment group, and the efficacy among the patients in the 3 groups were analyzed.@*RESULTS@#MDS with excess blast (MDS-EB) in the elderly patients with medium and high risk MDS were the most common, 47.4% of the patients with abnormal chromosome karyotypes, and 23.7% with complex karyotypes (≥3). 97.3% of the patients showed at least one gene mutation, and TP53 mutations were detected in nearly 20% of the patients with medium and high risk. Multivariate analysis showed that IPSS-R category and treatment regimes were the factors affecting the prognosis of elderly patients with medium and high risk MDS. The median overall survival (OS) time of the patients in the 3 groups showed significant difference (P=0.012), and the median OS of the patients in the transplantation group was significantly longer than that in the chemotherapy group and other group (P=0.003,P=0.014,respectively), while there was no significant difference in median OS between chemotherapy group and other treatment group (P=0.685).@*CONCLUSION@#Elderly MDS patients with medium and high risk can benefit from allogeneic hematopoietic stem cell transplantation, which will prolong their OS.

Aged , Chromosome Aberrations , Hematopoietic Stem Cell Transplantation , Humans , Myelodysplastic Syndromes , Prognosis , Retrospective Studies
Article in Chinese | WPRIM | ID: wpr-880047


OBJECTIVE@#To analyze the prognostic value of R-ISS staging combined with "Multiple-Hits" in patients with multiple myeloma (MM), and to detected the effect of different "Multiple- Hits" combinations to the prognosis of the patients.@*METHODS@#The 220 MM patients treated in the hematology department of People's Hospital of Xinjiang Uygur Autonomous Region from April 2013 to October 2019 were enrolled and retrospective analyzed. All the patients were detected by FISH. The effects of R-ISS staging combined with "Multiple-Hits" and different "Multiple-Hits" combinations to the prognosis of the patients were compared.@*RESULTS@#For the patients at R-ISS stage II and III, the median progression-free survival (PFS) time, overall survival (OS) time and duration of response (DOR) time in "Multiple-Hits" patients were all shorter than those without high-risk cytogenetic abnormality (HRCA) and those with only one type of HRCA (P<0.05), while the TTR (time to response) was significantly prolonged (P<0.05). For the prognosis of the patients among the three different "Multiple-Hits" combinations(1q21+ combined with del(17p), 1q21+ combined with t(14;16) and combined 1q21+ combined with t(4;14)), 1q21+ combined with del(17p) showed the worst prognosis.@*CONCLUSION@#The patients with Different "Multiple-Hits" combinations shows different prognosis. The R-ISS staging combination with "Multiple-Hits" is more conducive to accurately judging the prognosis of MM patients.

Chromosome Aberrations , Humans , Multiple Myeloma/pathology , Neoplasm Staging , Prognosis , Retrospective Studies
Article in Chinese | WPRIM | ID: wpr-879629


OBJECTIVE@#To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT).@*METHODS@#NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells.@*RESULTS@#The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23).@*CONCLUSION@#For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.

Chromosome Aberrations , DNA Copy Number Variations , Female , Humans , In Situ Hybridization, Fluorescence , Pregnancy , Prenatal Diagnosis , X Chromosome
Article in Chinese | WPRIM | ID: wpr-879594


Chromosome microarray analysis (CMA) has become the first-tier testing for chromosomal abnormalities and copy number variations (CNV). This review described the clinical validation of CMA, the development and updating of technical standards and guidelines and their diagnostic impacts. The main focuses were on the development and updating of expert consensus, practice resources, and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature. Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities, multiple congenital anomalies and autism. The standards and guidelines have been applied to pre- and postnatal testing for constitutional CNV and tumor testing for acquired CNV. CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies. Guiding and governing CMA through expert consensus, practice resource, standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families, reliable diagnosis on related genetic diseases for clinical database and basic research, and references for clinical translation of new technologies.

Child , Chromosome Aberrations , Chromosomes , DNA Copy Number Variations , Developmental Disabilities/genetics , Humans , Intellectual Disability/genetics , Microarray Analysis , United States
Article in Chinese | WPRIM | ID: wpr-879568


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.@*METHODS@#The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.@*RESULTS@#The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.@*CONCLUSION@#CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.

Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 8 , DNA Copy Number Variations , Female , Fetus , Humans , Karyotyping , Microarray Analysis , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879559


OBJECTIVE@#To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD).@*METHODS@#Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology.@*RESULTS@#Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity.@*CONCLUSION@#SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.

Child , Chromosome Aberrations , DNA Copy Number Variations , Developmental Disabilities/genetics , Humans , Intellectual Disability/genetics , Karyotyping
Article in Chinese | WPRIM | ID: wpr-879555


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for fetal duodenal obstruction (DO).@*METHODS@#Fifty-one fetuses with DO identified by prenatal ultrasound were divided into DO only group and DO with other anomaly group. CMA was carried out on amniotic fluid or umbilical blood samples, and the outcome of pregnancy of all cases were followed up.@*RESULTS@#Eight fetuses (15.7%) were found with genomic abnormalities, which included 3 chromosomal aneuploidies and 5 copy number variations (CNVs), including one 17q12 microduplication syndrome, one 13q21.33q31.1 microdeletion, one 13q21.32q22.3 deletion, one 13q21.2q31.1 deletion and one 1q43q44 duplication. EDNRB from 13q and HNF1B from 17q12 are candidate genes for fetal DO. No significant difference was found in the detection rate of pathogenic CNVs between the DO only and DO with other anomaly groups (9.5% vs.11.1%, P> 0.05). There were 39 live borns, 1 stillbirth, and 11 artificial abortions (8 with abnormal CMA results).@*CONCLUSION@#There is a correlation between fetal DO and abnormal copy number of the genome, for which prenatal diagnosis is necessary. CMA not only can detect microdeletions/microduplications, but also identify pathogenic genes, which can facilitate prenatal diagnosis, genetic counseling and prognosis for the fetus.

Chromosome Aberrations , DNA Copy Number Variations , Duodenal Obstruction/genetics , Female , Fetus , Humans , Microarray Analysis , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-879532


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the detection of fetal anomalies among pregnant women with advanced age.@*METHODS@#CMA results of 562 cases, in addition with the outcome of pregnancy and neonatal follow-up were reviewed.@*RESULTS@#Among the 562 amniotic fluid samples, 73 cases (12.99%) of fetal chromosomal abnormalities were detected, which included 21 cases (3.73%) of chromosomal aneuploidies and 52 cases (9.25%) of copy number variations (CNVs). The latters included 27 cases of pathological CNVs (4.80%), 4 cases of possible pathogenic CNVs (0.71%) and 42 cases of variants with unknown clinical significance (7.47%). Compared with those under 35, the detection rate of fetal chromosomal aneuploidies for women with advanced age was higher under the indications of voluntary test, abnormal ultrasonic structures, abnormal ultrasonic soft index and risks indicated by non-invasive prenatal testing (NIPT). No significant difference was found in the detection rate of CNVs between those ≥35 and 0.05). 552 cases (98.22%) of pregnant women have completed the followed up. Among 31 women with pathological and possible pathogenic fetal CNVs detected by CMA, 25 had terminated the pregnancy, 6 (19.35%) have delivered without obvious abnormality. 41 pregnant women with fetal CNVs of unknown clinical significance have completed the follow up, among whom 3 had terminated the pregnancy, 1 newborn was found with malformation after birth, which yielded an abnormal pregnancy rate of 9.76%. 480 pregnant women with negative CMA results have completed the follow up, among whom 5 (1.04%) had abnormal pregnancy or delivered a child with birth defect.@*CONCLUSION@#There is a certain difference between the outcome of pregnancy predicted by CMA testing and the actual outcome. The pregnancies with fetal CNVs with unknown clinical significance detected by CMA have a high adverse rate, which should attract clinical attention. CMA testing should be recommended for pregnant women with advanced age regardless of whether they have other symptoms. CMA combined with other detection methods is the trend for prenatal diagnosis.

Aneuploidy , Chromosome Aberrations , DNA Copy Number Variations , Female , Humans , Infant, Newborn , Maternal Age , Oligonucleotide Array Sequence Analysis , Pregnancy , Prenatal Diagnosis
Einstein (Säo Paulo) ; 19: eAO5945, 2021. tab, graf
Article in English | LILACS | ID: biblio-1286283


ABSTRACT Objective: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. Methods: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microarray analysis or arrays. Results: Forty samples were analyzed using classic cytogenetics, of which 10% showed no cell growth, 50% had normal results and 40% had abnormalities. Of the 41 cases sent for array analysis it was not possible to obtain results in 7.3%, 39.5% were normal and 60.5% had abnormalities. There was no statistical difference among the results (p=0.89). Most abnormal results were seen till 9 weeks' gestation. The later abnormal miscarriage was seen at 28 weeks' gestation, with karyotype 46,XX,del(15)(q26.2-qter). The results are corroborated by the international literature. Conclusion: Classic cytogenetics and array techniques showed comparable results on the type of alteration observed. Array analysis is preferable to cell culture in delayed abortions, while cytogenetics is more able to show polyploidies. Both have the same growth failure rates when product of conception tissue is not properly collected.

RESUMO Objetivo: Comparar os resultados obtidos pela metodologia clássica e molecular na análise de produtos de concepção, além das vantagens e desvantagens de cada método. Métodos: Análise retrospectiva não randomizada dos resultados obtidos a partir de amostras de produto de concepção submetidas à avaliação genética, de 2012 a 2017. As análises foram realizadas por citogenética clássica e/ou análise cromossômica de microarray ou arrays. Resultados: Quarenta amostras foram analisadas por citogenética, das quais 10% não apresentaram crescimento celular, 50% apresentaram resultados normais, e 40% apresentaram anormalidades. Dos 41 casos encaminhados para análise por array, não foi possível obter resultados em 7,3%, 39,5% eram normais, e 60,5% apresentavam alterações. Não houve diferença estatística entre os resultados (p=0,89). A maioria dos resultados anormais foi observada até a nona semana de gestação. Uma perda fetal mais tardia foi observada na 28ª semana de gestação, com cariótipo 46,XX,del(15)(q26.2-qter). Os números observados corroboraram a literatura mundial. Conclusão: As técnicas de citogenética clássica e análise por array mostraram resultados comparáveis no tipo de alteração observada. O array é preferível à cultura de células em abortos tardios, enquanto a citogenética é mais capaz de mostrar poliploidias. Ambos têm as mesmas taxas de falha de crescimento quando o tecido do produto de concepção não é coletado adequadamente.

Humans , Female , Pregnancy , Abortion, Spontaneous , Chromosome Aberrations , Retrospective Studies , Cytogenetic Analysis , Karyotyping
Rev. cuba. pediatr ; 92(4): e918, oct.-dic. 2020. tab, graf
Article in English | LILACS, CUMED | ID: biblio-1144519


Introduction: Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition of motor functions, cognitive abilities and speech, or combined deficits in these areas with the onset before the age of 5 years. Genetic causes account for approximately a half of all NDD cases. Objective: to describe alterations of the genome implied in neurodevelopmental disorders and some aspects of their genetic counseling. Methods: Bibliographic search in Medline, Pubmed, Scielo, LILACS and Cochrane, emphasizing in the last five years, the relationship between the various genetic factors that may be involved in neurodevelopmental disorders. Results: Multiple genetic factors are involved in neurodevelopmental disorders, from gross ones such as chromosomal aneuploidies to more subtle ones such as variations in the number of copies in the genome. Special emphasis is placed on microdeletion-micro duplication syndromes as a relatively frequent cause of NDDs and their probable mechanisms of formation are explained. Final Considerations: Genetic aberrations are found in at least 30-50 percent of children with NDD. Conventional karyotyping allows the detection of chromosomal aberrations encompassing more than 5-7 Mb, which represent 5-10 percent of causative genome rearrangements in NDD. Molecular karyotyping (e.g. SNP array/array CGH) can significantly improve the yield in patients with NDD and congenital malformations(AU)

Introducción: Los trastornos del neurodesarrollo están caracterizados por retardo en la adquisición de las funciones motoras, habilidades cognitivas para el habla o el déficit combinado en estas áreas; se presenta en niños menores de 5 años de edad. Las causas genéticas están implicadas en más de la mitad de los pacientes con estos trastornos Objetivo: Examinar las alteraciones del genoma implicados en los trastornos del neurodesarrollo y algunos aspectos de su asesoramiento genético. Métodos: Búsqueda bibliográfica en Medline, Pubmed, Scielo, LILACS y Cochrane con énfasis en los últimos cinco años, acerca de la relación entre los variados factores genéticos que pueden estar involucrados en los trastornos del neurodesarrollo. Resultados: Los factores genéticos involucrados pueden ser groseros como las aneuploidías cromosómicas hasta los más sutiles como las variaciones en el número de copias en el genoma. Se describen los síndromes de microdeleción-micro duplicación como una causa relativamente frecuente de los trastornos del neurodesarrollo y se explican sus probables mecanismos de formación. Se relacionan las aneuploidías cromosómicas y las variaciones en el número de copia como causas de estos trastornos. Consideraciones finales . Las aberraciones genéticas se encuentran en 30-50 por ciento de los niños con trastornos del neurodesarrollo. El cariotipo convencional permite la detección de aberraciones cromosómicas que abarcan más de 5-7 Mb, lo que representa 5-10 por ciento de los reordenamientos genómicos causales en estos trastornos. El cariotipo molecular (por ejemplo, una matriz de SNP/ CGH de matriz) puede mejorar significativamente la certeza del diagnóstico en pacientes con trastornos del neurodesarrollo y malformaciones congénitas(AU)

Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Chromosome Aberrations , Neurodevelopmental Disorders/genetics , Neurodevelopmental Disorders/epidemiology , Genome, Human/genetics
Rev. méd. hondur ; 88(1): 43-46, ene.- jun. 2020. tab, ilus
Article in Spanish | LILACS | ID: biblio-1128556


Antecedentes: El Síndrome de Edwards o trisomía 18, es una anomalía cromosómica o aneuploidía caracterizada por la presencia de una copia adicional del cromosoma 18. Se asocia con una alta tasa de mortalidad, siendo muy escasas las probabilidades de supervivencia más allá de las semanas o del año de edad. Sin embargo, existen casos que llegan a sobrevivir más tiempo, pero con retraso mental severo, problemas de salud y de desarrollo, y por ende una calidad de vida muy baja. En este artículo se informa un caso de trisomía 18 de larga sobrevida con el propósito de aportar información sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Descripción de Caso: Paciente de sexo femenino nacida en 2010 con un cariotipo realizado en 20 células que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos para su edad, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia de lenguaje verbal y sordera neurosensorial. Conclusión: El conocimiento de las manifestaciones clínicas y el pronóstico del paciente con trisomía 18 es de gran importancia para el cuidado neonatal y la toma de decisiones para realizar procedimientos invasivos, como cirugía de corazón o resucitación cardiopulmonar. El diagnóstico temprano es importante para la toma de decisiones médicas...(AU)

Humans , Female , Child , Chromosome Aberrations , Trisomy 18 Syndrome/diagnosis , Genetic Counseling , Intellectual Disability
J. oral res. (Impresa) ; 9(2): 104-110, abr. 30, 2020. ilus, graf, tab
Article in English | LILACS | ID: biblio-1151903


Background: Micronucleus is a microscopically visible cyto-plasmic chromatin mass in the extranuclear vicinity, originating from aberrant mitosis, which consists of eccentric chromosomes that have failed to reach spindle poles during mitosis. The present study was designed to evaluate and compare cytogenetic changes in the buccal mucosa of smokers and non-smokers based on the occurrence of micronuclei. The study aimed to determine the correlation between the micronuclei count and the frequency and duration of smoking habit. Materials and Methods: Two groups (smokers and non-smokers) of 34 individuals each were examined. Cytological buccal smears were taken from participants using a moistened wooden spatula and stained with standard Papanicolaou stain. Presence of micronuclei was assessed at 40X magnification using a light microscope and a count per 500 cells was determined. The results of the study were analyzed statistically using Mann-Whitney U test, Spearman's rank correlation coefficient and Student t-test. Result: Smears from smokers showed a significant increase in the total number of micronuclei per 500 cell count compared to non-smokers. There was a strong positive correlation between the occurrence of micronuclei and the frequency and duration of smoking. A age-related increase in older age groups was also observed. Conclusion: The study reveals a strong positive correlation between the occurrence of micronuclei and the frequency and duration of smoking. This observation is vital in the utilization of the micronuclei detection in smears as a prognostic, educational and interventional tool in the management of patients with smoking habits.

Antecedentes: El micronúcleo es una masa de cromatina citoplasmática microscópicamente visible en el área extranuclear, que se origina a partir de la mitosis aberrante, y que consiste en cromosomas excéntricos que no han podido alcanzar los polos del huso durante la mitosis. El presente estudio fue diseñado para evaluar y comparar los cambios citogenéticos en la mucosa bucal de fumadores y no fumadores en función de la aparición de micronúcleos. El estudio tuvo como objetivo determinar la correlación entre el recuento de micronúcleos y la frecuencia y duración del hábito de fumar. Materiales and Métodos: Se examinaron dos grupos (fumadores y no fumadores) de 34 individuos cada uno. Se tomaron frotis bucales citológicos de todos los participantes con una espátula de madera humedecida y se tiñeron con la tinción estándar de Papanicolaou. La presencia de micronúcleos se evaluó al microscopio óptico con un aumento de 40X y se determinó un recuento por 500 células. Los resultados del estudio se analizaron estadísticamente utilizando la prueba U de Mann-Whitney, el coeficiente de correlación de rango de Spearman y la prueba t de Student. Resultados: Los frotis de fumadores mostraron un aumento significativo en el número total de micronúcleos por 500 células en comparación con los no fumadores. Hubo una fuerte correlación positiva entre la aparición de micronúcleos y la frecuencia y duración del tabaquismo. También se observó un aumento relacionado con la edad en los grupos de mayor edad. Conclusión: el estudio revela una fuerte correlación positiva entre la aparición de micronúcleos y la frecuencia y duración del tabaquismo. Esta observación es vital en la utilización de la detección de micronúcleos en frotis como una herramienta pronostica, educativa e intervencionista en el manejo de pacientes con hábitos de fumar.

Humans , Male , Female , Adult , Middle Aged , Young Adult , Micronucleus Tests , Micronuclei, Chromosome-Defective , Tobacco Use/adverse effects , Tobacco Smoking/adverse effects , Mouth Mucosa/cytology , In Vitro Techniques , Chromosome Aberrations , Non-Smokers , India
Oncol. (Guayaquil) ; 30(1): 31-38, Abril. 2020.
Article in Spanish | LILACS | ID: biblio-1140897


Introducción: El lipoblastoma es una neoplasia benigna de presentación infrecuente originada en el tejido adiposo, de presentación casi exclusiva en pacientes pediátricos antes de los tres años de edad, con predominio en el sexo masculino. Se localiza principalmente en las extremidades y tronco, como una tumoración indolora de crecimiento progresivo. El tratamiento de elección es quirúrgico y tiene pronóstico favorable. Las recidivas se presentan en los casos en los que la resección no pudo ser completa. Caso clínico: Lactante mujer de 7 meses de edad. Desde los tres meses de edadpresentó aumento progresivo del volumen de la extremidad inferior izquierda.Al examen físico se evidenciógran tumoraciónde 12 x 7 centímetrosque compromete la cara posterior del muslo izquierdo: Masa indolora y bien delimitada. Sin compromiso de la movilidad, sin edema de miembro. Taller diagnóstico: La Resonancia Magnética reportó unatumoración sólida de muslo izquierdo hiper-intensa en T1 y T2, hipo-intensa en STIR con septos finos en su interior, se extiende desde el musculo abductor magno del bíceps femoral y mide 11.2 x 7.9 x 8.4 cm en sus ejes longitudinal, anteroposterior y transversal respectivamente, desplazando y comprimiendo a los músculos semitendinoso, semimembranoso y gracilis. La paciente fue sometida a escisión completa y amplia de la masa, mediante abordaje posterolateral. Desenlace:Patología reportóun tumor constituido por tejido adiposo con tejido mixoide,sin atipia nuclear; se evidencia infiltración parcial del musculo esquelético adyacente, sin afectación de piel, sin necrosisy bordes quirúrgicos negativos para neoplasia. Inmunohistoquímica con marcador de proliferación celular KI-67 resultado positivo de 1%, y estudio de MDM2 (inhibidor de la activación transcripcional de p53) negativo; hallazgos compatibles con lipoblastoma. El estudio citogenético no fue realizado. Evolución: La paciente fue dada de alta al cuarto día post-operatorio sin complicaciones. Con una recuperación completa, en el quinto mes de seguimiento se realizónuevo estudio de resonancia magnética en la cual no se visualizan imágenes que sugieran tumor residual ni recidiva tumoral. Conclusión: El lipoblastoma debe ser tomada en cuenta como diagnóstico diferencial en niños con tumores de partes blandas, su tratamiento es eminentemente quirúrgico con un buen pronóstico si la extirpación es completa

Introduction: Lipoblastoma is an infrequent benign neoplasm originating in adipose tissue, presenting almost exclusively in pediatric patients before the age of three years, predominantly in males. It is located mainly on the limbs and trunk, as a painless, progressively growing tumor. The treatment of choice is surgical and has a favorable prognosis. Recurrences occur in cases in which the resection could not be complete. Clinical case: 7-month-old female infant. From the age of three months, he presented a progressive increase in the volume of the left lower limb. Physical examination revealed a large mass measuring 12 x 7 centimeters that involves the posterior aspect of the left thigh: a painless and well-defined mass. No compromise of mobility, no limb edema. Diagnostic workshop: Magnetic resonance imaging reported a hyper-intense solid tumor of the left thigh in T1 and T2, hypo-intense in STIR with fine septa inside it, extending from the abductor magnus muscle of the biceps femoris and measuring 11.2 x 7.9 x 8.4 cm in its longitudinal, anteroposterior and transverse axes respectively, displacing and compressing the semitendinosus, semimembranosus and gracilis muscles. The patient underwent a complete and wide excision of the mass using a posterolateral approach. Outcome: Pathology reported a tumor made up of adipose tissue with myxoid tissue, without nuclear atypia; partial infiltration of the adjacent skeletal muscle is evidenced, without skin involvement, without necrosis and negative surgical margins for neoplasia. Immunohistochemistry with a cell proliferation marker KI-67, a positive result of 1%, and a negative MDM2 study (inhibitor of transcriptional activation of p53); findings consistent with lipoblastoma. The cytogenetic study was not performed. Evolution:The patient was discharged on the fourth postoperative day without complications. With a complete recovery, in the fifth month of follow-up a new magnetic resonance study was performed in which no images that suggest residual tumor or tumor recurrence are visualized Conclusion: Lipoblastoma should be taken into account as a differential diagnosis in children with soft tissue tumors, its treatment is eminently surgicalwith a good prognosis if the removal is complete

Humans , Chromosome Aberrations , Lipoblastoma , Infant , Case Reports
Rev. chil. cardiol ; 39(1): 8-15, abr. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1115444


ANTECEDENTES: Un número creciente de artículos está llamando la atención en forma consistente sobre la eventual asociación que existe entre los denominados trabajadores ocupacionalmente expuestos a bajos niveles de radiación ionizante (POEs) y una mayor frecuencia de aberraciones cromosómicas, a nivel Sudamericano estos estudios son escasos. OBJETIVO: Evaluar la frecuencia de aberraciones cromosómicas en linfocitos de sangre periférica de POEs de un hospital y de sujetos sanos. Adicionalmente, se realizó una revisión exhaustiva de los artículos que a la fecha abordaron este tema. MATERIAL Y MÉTODO: Se condujo un análisis citogenético destinado a cuantificar las aberraciones cromosómicas en sangre periférica de linfocitos de 6 POEs de la unidad de Cardiología Intervencional y, como controles, 6 muestras de sujetos de la población general fueron analizadas. RESULTADOS: Se observó un importante contraste en el número de aberraciones cromosómicas presentadas en los POEs versus la población general no expuesta a radiaciones ionizantes, siendo esta de una relación de 6:1, respectivamente. CONCLUSIÓN: Los resultados preliminares indican una mayor frecuencia de aberraciones cromosómicas en los POEs versus la población general, sin embargo, se deberá esperar los resultados de la segunda fase de investigación, donde al ampliar la muestra en análisis se podrán obtener conclusiones estadísticamente significativas.

BACKGROUND: There is growing evidence of an increased number of chromosomes aberrations in subjects exposed to low levels of ionizing radiation (POEs). There are few studies on this subject in Latin America AIM: To evaluate the frequency of chromosome aberrations in lymphocytes obtained from peripheral blood in subjects working in laboratories where low levels of ionizing radiation are present and to compare these findings to those of unexposed subjects. METHODS: A cytogenic analysis to quantify chromosome aberrations was performed in 6 POs subjects from a cardiology invasive laboratory and 6 controls from a general unexposed population. RESULTS: Compared to controls, an approximately 6-fold increase in the number of chromosome aberrations was subjects exposed to ionizing radiation CONCLUSION: These preliminary results indicate that there is an increased number of chromosome aberrations in subjects exposed to low levels of ionizing radiation, as occurs in people working in a cardiology interventional laboratory. Studies in large numbers of subjects and preferably followed prospectively are needed to evaluate more precisely this effect.

Humans , Male , Female , Personnel, Hospital , Radiation, Ionizing , Chromosome Aberrations/radiation effects , Cardiology Service, Hospital , Radiation Dosage , Lymphocytes/radiation effects , Chile , Pilot Projects , Occupational Exposure , Chromosome Aberrations/statistics & numerical data , Chromosomes, Human/radiation effects , Cytogenetic Analysis
Rev. chil. obstet. ginecol. (En línea) ; 85(1): 68-73, feb. 2020. graf
Article in Spanish | LILACS | ID: biblio-1092777


INTRODUCCIÓN: La hipoplasia de timo es una entidad que puede asociarse a múltiples patologías fetales de ahí la importancia de su diagnóstico y su manejo. OBJETIVO: Utilidad y métodos de evaluación del timo en la ecografía morfológica y valor de la interpretación del análisis genético de los microarrays. CASO CLÍNICO: Se presenta el caso clínico de una gestante en la que se detecta una glándula tímica hipoplásica utilizando para su medición el índice timo-torácico en un plano de tres vasos. Ante estos hallazgos se realiza una amniocentesis para análisis genético usando la QF-PCR y un análisis ARRAY-CGH. RESULTADOS: En el análisis de ARRAY-CGH se observa una duplicación patológica en mosaico compatible con una trisomía del cromosoma 10, alteración genética infrecuente de la que se han reportado unos 50 casos en recién nacidos vivos. Esta alteración presenta un rango muy amplio de alteraciones, desde malformaciones graves a niños completamente normales. En los controles posteriores la gestación es normoevolutiva y finaliza en la semana 40 mediante un parto eutócico de inicio espontáneo naciendo un bebé fenotípicamente normal con un timo de menor tamaño del habitual siendo pronto para saber las consecuencias de esta alteración en su inmunidad. CONCLUSIONES: Por un lado, el timo es una estructura fácil de visualizar en la ecografía morfológica de la semana 20 y su medición mediante el índice timo-torácico nos aporta información útil acerca de posibles patologías fetales. Por otro, tener en cuenta que debemos ser muy cautelosos con la interpretación de resultados de pruebas genéticas cuando éstas no tienen un significado clínico claro.

INTRODUCTION : Thymus hypoplasia can associate many different pathologies so is highly important the diagnosis and the management. OBJECTIVE: Utility and methods in the evaluation of the fetal thymus in the morphological ultrasound and interpretation of microarray results. CLINICAL CASE: We present a case of fetal hypoplastic thymus gland in a pregnant woman. We measure it using the thymus-torax index in a three vessel view. A genetical analysis was made using QF-PCR and Array-CGH. RESULTS: In the ARRAY-CGH analysis it is found a pathological mosaicism that match with chromosome 10 trisomy, a very uncommon genetical alteration with only 50 reported cases. This trisomy can traduce from serious malformations to complete normal children. The parents decide to continue with the pregnancy and in week 40 it finishes with an uncomplicated delivery of a healthy child. In the newborn pediatrics remark a thymus gland smaller than expected but it is early to say if it will have or not consequences in its immunity. CONCLUSION: On one hand the thymus is a structure that we can easily display in the morphological ultrasound in the 20 week of pregnancy and its measure, using the thymus-torax index, can be very helpful in the detection of fetal pathologies. On the other hand, is important being careful when we interpret a genetical alteration without a clear clinical significance.

Humans , Female , Pregnancy , Infant, Newborn , Thymus Gland/abnormalities , Thymus Gland/diagnostic imaging , Trisomy/genetics , Trisomy/diagnosis , Chromosomes, Human, Pair 10 , Polymerase Chain Reaction/methods , Ultrasonography, Prenatal , Chromosome Aberrations , Microarray Analysis , Amniocentesis
Article in Chinese | WPRIM | ID: wpr-828318


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the analysis of 824 samples from miscarriage or stillbirth.@*METHODS@#Copy number variations (CNVs) in the abortic chorionic villi or stillbirth tissues were detected by CMA.@*RESULTS@#All specimens were successfully analyzed, among which 381 (46.2%) were diagnosed with chromosomal abnormalities, which included 312 (81.9%) numerical abnormalities, 66 (17.3%) structural abnormalities and 3 (0.8%) uniparental disomies. Among numerical chromosomal abnormalities, aneuploidies was most common (92.0%), with trisomy 16 and 45,X accounting for 41 (13.1%) and 63 (20.2%) of the cases, respectively. Among the 66 structural chromosomal aberrations, there were 26 (39.4%) CNVs duplications, 20 (30.3%) CNVs deletions, and 20 (30.3%) CNVs duplication and deletions. 33 CNVs were predicted as have a high chance to lead to a disease.@*CONCLUSION@#CMA is a reliable, robust, and high-resolution method for the analysis of miscarriage or stillbirth samples. Numerical aberrations, in particular chromosomal aneuploides, are the main cause for spontaneous abortions and stillbirths.

Abortion, Spontaneous , Genetics , Chromosome Aberrations , Chromosome Disorders , Diagnosis , Genetics , DNA Copy Number Variations , Female , Humans , Microarray Analysis , Pregnancy , Stillbirth , Genetics
Article in Chinese | WPRIM | ID: wpr-828317


OBJECTIVE@#To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) for prenatal diagnosis.@*METHODS@#G-banding karyotyping and CMA were simultaneously performed on 546 women who were subjected to amniocentesis during middle pregnancy.@*RESULTS@#In total 82 cases were detected with chromosomal abnormalities. The two methods were consistent in 43 cases, which included 14 trisomy 21, 6 trisomy 18, 1 trisomy 13, 14 sex chromosomal aneuploidies, 4 chromosomal deletions, 3 chromosomal duplications and 1 sex chromosomal mosaicism. Fifteen fetuses with chromosomal abnormalities detected by CMA were missed by karyotyping analysis, which included 9 microdeletions and 6 microduplications. Sixteen fetuses with chromosomal abnormalities detected by karyotyping analysis were missed by CMA, which included 15 chromosomal translocations and 1 sex chromosomal mosaicism. In 7 cases, the results of karyotyping analysis and CMA were inconsistent. One supernumerary marker chromosome detected by karyotyping analysis was verified by CMA as 9p13.1p21.1 duplication.@*CONCLUSION@#Combined chromosomal karyotyping and CMA can significantly improve the detection rate for chromosomal abnormalities, which has a great value for prenatal diagnosis.

Chromosome Aberrations , Chromosome Disorders , Diagnosis , Genetics , Female , Humans , Karyotyping , Microarray Analysis , Pregnancy , Prenatal Diagnosis
Article in Chinese | WPRIM | ID: wpr-828314


OBJECTIVE@#To carry out genetic testing for 3 fetuses with abnormal prenatal screening.@*METHODS@#Fetal ultrasound, karyotype analysis, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization were performed.@*RESULTS@#Abnormalities of chromosome 22 were found with all 3 fetuses. Fetus 1 harbored a 7.1 Mb deletion in 22q13.2q13.33 region, which involved 54 OMIM genes including SHANK3 and FBLN1. Fetus 2 had a mosaicism karyotype, with 12% of cells harboring a 6.6 Mb deletion in 22q13.31q13.33, covering 48 OMIM genes such as SHANK3 and PPARA, and 5% of cells harboring a 26.1 Mb duplication in 22q11.1q13.2 involving 285 OMIM genes. Fetus 3 carried a tandem duplication of 1.7 Mb in 22q11.1q11.21, which involved 10 OMIM genes including CECR1, CECR2 and ATP6V1E1. No abnormality was found in the three couples by chromosomal karyotyping and SNP array analysis.@*CONCLUSION@#The severity of diseases caused by chromosome 22 abnormalities not only depends on the range of the deletion or duplication, but is also closely related to chromosome structure, gene dose and genetic environment. Combined ultrasonography and various genetic testing techniques in prenatal diagnosis can greatly increase the detection rate of genetic diseases with substantial phenotypic variation.

Chromosome Aberrations , Chromosome Deletion , Chromosome Disorders , Diagnosis , Genetics , Chromosomes, Human, Pair 22 , Genetics , Female , Fetus , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Prenatal Diagnosis , Transcription Factors , Ultrasonography, Prenatal
Journal of Experimental Hematology ; (6): 1221-1227, 2020.
Article in Chinese | WPRIM | ID: wpr-827136


OBJECTIVE@#To investigate the clinical efficacy and prognosis of double-hit multiple myeloma patients with deletion P53 treated with regimen based on bortezomib.@*METHODS@#The ethnical data from 186 newly diagnosed MM patients hospitalized in the Department of Hematology of Harrison International Peace hospital from January 2012 to January 2019 were analyzed retrospectively. The fluorescent in situ hybridization (FISH) and G-binding staining were used to detect cytogenetic abnormalities (P53 deletion, lq21 amplification and IgH rearranagement) for analyses of complete remission (CR), overall response rate (ORR), progression-free survival (PFS) and overall survival (OS) of patients treated with bortezomib for 4 circles.@*RESULTS@#In 186 patients, simple P53 deletion was 14 cases, 1q21 amplification and P53 deletion were found in 11 cases (A group), t (14;16) and P53 deletion in 7 cases (B group), t (4;14) and P53 deletion in 9 cases (C group). The complete remission rate (CR%) of above-mentioned three groups was 27.27%, 28.57% and 33.33% respectively, and the ORR of the three groups was 54.54%, 57.14% and 55.56%, respectively, there was no statistically significant difference between the three groups (P>0.05). The patients with 1q21 amplification and P53 deletion had shorter OS and PFS time (P=0.041, P=0.046). The double-hit patients with 1q21 amplification showed shorter OS time, compared with the patients with P53 deletion (P=0.027). The double-hit patients with t(14;16) and t(4;14) showed shorter OS time (P=0.871, P=0.276) and PFS time (P=0.955, P=0.379) than those of the patients with P53 deletion.@*CONCLUSION@#P53 deletion and 1q21 amplification are an adverse prognostic factor of early recurrence and short lifetime in patients with newly diagnosed double-hit MM.

Bortezomib , Chromosome Aberrations , Humans , In Situ Hybridization, Fluorescence , Multiple Myeloma , Prognosis , Retrospective Studies , Treatment Outcome , Tumor Suppressor Protein p53