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1.
Horiz. enferm ; (Número especial: Investigación y práctica en condiciones crónicas de salud): 418-428, 2024. ilus
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1553597

RESUMEN

Se presenta una propuesta de intervención de enfermería de práctica avanzada (EPA) en oncología. OBJETIVO: Implementar un programa de acompañamiento para pacientes con cáncer de cabeza y cuello. PROPUESTA: Realizar un levantamiento del proceso y descripción del flujo que debe transitar el paciente oncológico desde la sospecha, diagnóstico, tratamiento, seguimiento y derivación a cuidados paliativos. En segunda instancia, crear e implementar una consulta de enfermería que pueda responder a las necesidades de atención de salud en forma holística de la persona con diagnóstico oncológico de cáncer de cabeza y cuello, tanto en las personas que se encuentran en fase sospecha y confirmación diagnóstica (consulta de ingreso) y en el proceso de seguimiento del sobreviviente (después de finalizado el tratamiento oncológico), a través de una puesta en marcha escalonada, con períodos de evaluación en cada uno de ellos. CONCLUSIONES: La heterogeneidad de la persona diagnosticada con cáncer de cabeza y cuello representa un desafío y se considera a la EPA un profesional para manejar casos complejos. El camino hacia este nuevo rol será paulatino, y requiere una transición tanto por el equipo de salud, los pacientes y las propias enfermeras dentro del marco legal vigente.


This paper presents a proposal for an advanced practice nursing intervention (APN) in oncology. OBJECTIVE: To implement a support program for patients with head and neck cancer. PROPOSAL: To carry out a survey of the process and description of the flow that the oncology patient must go through from suspicion, diagnosis, treatment, follow-up and referral to palliative care. Secondly, to create and implement a nursing consultation that can respond to the health care needs in a holistic manner of the person with an oncological diagnosis of head and neck cancer, both in people who are in the suspicion and diagnostic confirmation phase (admission consultation) and in the follow-up process of the survivor (after the end of oncological treatment), through a staggered implementation, with evaluation periods in each of them. CONCLUSIONS: The heterogeneity of the person diagnosed with head and neck cancer represents a challenge and the APN is considered a professional to manage complex cases. The journey towards this new role will be gradual, and requires a transition both by the health team, the patients and the nurses themselves within the current legal framework.

2.
Nat Commun ; 14(1): 6569, 2023 10 17.
Artículo en Inglés | MEDLINE | ID: mdl-37848444

RESUMEN

While macrophage phagocytosis is an immune defense mechanism against invading cellular organisms, cancer cells expressing the CD47 ligand send forward signals to repel this engulfment. Here we report that the reverse signaling using CD47 as a receptor additionally enhances a pro-survival function of prostate cancer cells under phagocytic attack. Although low CD47-expressing cancer cells still allow phagocytosis, the reverse signaling delays the process, leading to incomplete digestion of the entrapped cells and subsequent tumor hybrid cell (THC) formation. Viable THCs acquire c-Myc from parental cancer cells to upregulate both M1- and M2-like macrophage polarization genes. Consequently, THCs imitating dual macrophage features can confound immunosurveillance, gaining survival advantage in the host. Furthermore, these cells intrinsically express low levels of androgen receptor and its targets, resembling an adenocarcinoma-immune subtype of metastatic castration-resistant prostate cancer. Therefore, phagocytosis-generated THCs may represent a potential target for treating the disease.


Asunto(s)
Antígeno CD47 , Macrófagos , Metástasis de la Neoplasia , Fagocitosis , Proteínas Proto-Oncogénicas c-myc , Escape del Tumor , Humanos , Masculino , Proteínas Portadoras , Antígeno CD47/metabolismo , Macrófagos/metabolismo , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/inmunología , Neoplasias de la Próstata/patología , Proteínas Proto-Oncogénicas c-myc/genética , Proteínas Proto-Oncogénicas c-myc/inmunología , Transducción de Señal , Escape del Tumor/genética , Escape del Tumor/inmunología , Metástasis de la Neoplasia/genética , Metástasis de la Neoplasia/inmunología , Células Tumorales Cultivadas
3.
Cancer Genet ; 276-277: 43-47, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37480761

RESUMEN

Myeloid/lymphoid neoplasm with fibroblast growth factor 1 rearrangements (MLN-FGFR1) represents a rare group of hematologic neoplasms, with approximately 100 cases reported to date. A 69-year-old woman with a history of polycythemia and leukocytosis, with negative molecular testing for JAK2, CALR, and MPL, presented with diffuse adenopathy. A lymph node (LN) biopsy revealed effacement by T-lymphoblasts, consistent with T-cell acute lymphoblastic lymphoma (T-ALL). A staging bone marrow (BM) biopsy demonstrated trilineage hyperplasia, which, taken together with the patient's elevated hemoglobin and low serum erythropoietin level, fulfilled diagnostic criteria for polycythemia vera. Karyotype and fluorescence in situ hybridization on both the BM and LN demonstrated a FGFR1 rearrangement due to t(8;13), consistent with MLN-FGFR1. Whole genome sequencing on the LN additionally identified a pathogenic frameshift mutation of ASXL1 NC_000020.11:g32434646dup NM_015338.6(ASXL1):c.1934dup p.(Gly646Trpfs) predicted to result in loss of protein function, a finding also observed in 8.1% of BM reads. Both the BM and LN harbored missense variants in HDAC4 NM_001378414.1(HDAC4):c.[2763G>A]; [2763=] p.(Met921Ile) and CHEK2 NM_007194.4(CHEK2):c.[538C>T];[538=] p.(Arg180Cys), with an unknown significance. Despite initial response to Mini-CVD + venetoclax, the patient subsequently experienced rapid clinical deterioration and death. We report the second case of MLN-FGFR1 with an ASXL1 mutation and the first case with HDAC4 and CHEK2 variants.


Asunto(s)
Trastornos Mieloproliferativos , Policitemia Vera , Leucemia-Linfoma Linfoblástico de Células Precursoras , Leucemia-Linfoma Linfoblástico de Células T Precursoras , Femenino , Humanos , Anciano , Policitemia Vera/genética , Hibridación Fluorescente in Situ , Trastornos Mieloproliferativos/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética
4.
J Med Genet ; 60(6): 547-556, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36150828

RESUMEN

BACKGROUND: Mosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited. METHODS: We performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chromosome 8 (der(8)), resulting from an unbalanced translocation between the long arms of chromosomes 8 and 21 over three generations. RESULTS: The proband and his maternal half-sister had mosaicism for a der(8) cell line leading to trisomy of the distal 21q, and both had Down syndrome phenotypic features. Mosaicism for a cell line with the der(8) and a normal cell line was also detected in a maternal half-cousin. The der(8) was inherited from the maternal grandmother who had four abnormal cell lines containing the der(8), in addition to a normal cell line. One maternal half-aunt had the der(8) and an isodicentric chromosome 21 (idic(21)). Sequencing studies revealed microhomologies at the junctures of the der(8) and idic(21) in the half-aunt, suggesting a replicative mechanism in the rearrangement formation. Furthermore, interstitial telomeric sequences (ITS) were identified in the juncture between chromosomes 8 and 21 in the der(8). CONCLUSION: Mosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. The reversion of the inherited der(8) to a normal chromosome 8 in this family resembles revertant mosaicism of point mutations. We propose that ITS could mediate recurring revertant mosaicism for some constitutional chromosomal structural abnormalities.


Asunto(s)
Mosaicismo , Cromosomas en Anillo , Humanos , Cromosomas Humanos Par 8/genética , Cariotipificación , Hibridación Fluorescente in Situ , Aberraciones Cromosómicas , Translocación Genética/genética , Células Germinativas
5.
Mol Cytogenet ; 15(1): 1, 2022 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-35073929

RESUMEN

BACKGROUND: Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases reported. Double aneuploidy mosaicism involving two different cell lines is rarer with only three cases reported. CASE PRESENTATION: We report a fourth case of double aneuploidy mosaicism on a baby. Results of a 24-h preliminary chromosome analysis at birth showed a mosaic karyotype, 47,XX,+18[15]/47,XX,+21[8]/48,XX,+21,+mar[7]. Reflex testing to SNP microarray with the same sample collected at birth showed gain of a 77.9 Mb region on chromosome 18 and gain of a 32.5 Mb region on chromosome 21. Microarray did not show any other copy number variants indicating that the marker chromosome may not contain any euchromatic material. A repeat chromosome analysis at 1-year of age showed a mosaic karyotype, 47,XX,+18[76]/47,XX,+21[4] with loss of the marker cell line. CONCLUSION: Based on our results, we propose that the mosaic double autosomal trisomy in our case was due to two independent non-disjunction events in a normal zygote very early during embryogenesis.

6.
Cancer Genet ; 262-263: 30-34, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34974291

RESUMEN

Although the 5q- syndrome is common in both de novo and treatment related myelodysplastic syndrome (MDS) and the World Health Organization defined 5q- syndrome as a specific type of MDS, it is less common in acute myelogenous leukemia (AML). Recently, it was suggested that AML with diploidy/tetraploidy and/or 5q alterations may be associated with the cryptic translocation, t(7;21)(p22;q22) resulting in RUNX1-USP42 gene fusion and this association may have been underestimated. Here, we report another case of de novo AML with cryptic t(7;21)(p22;q22) associated with a 5q deletion.


Asunto(s)
Leucemia Mieloide Aguda , Síndromes Mielodisplásicos , Anemia Macrocítica , Biomarcadores , Aberraciones Cromosómicas , Deleción Cromosómica , Cromosomas Humanos Par 5 , Síndrome del Maullido del Gato , Humanos , Hibridación Fluorescente in Situ , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicos/genética , Translocación Genética , Trisomía
7.
Mol Cytogenet ; 14(1): 37, 2021 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-34261519

RESUMEN

BACKGROUND: Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or chromosome regions are known to harbor imprinted genes. CASE PRESENTATION: Here we report 2 cases of neonates that presented to clinic with hypotonia, poor oral skills including inability to feed by mouth, weak cry, no response to noxious stimulation and vertical plantar creases (case 1) and hypotonia and respiratory distress (case 2). A preliminary chromosome analysis showed normal karyotypes in both cases while the high-resolution single nucleotide polymorphism (SNP) microarray showed copy neutral absence of heterozygosity involving chromosome 15 distal long arm. In case 1, the CN-AOH involved a 28.7 Mb block from genomic coordinates 73703619_102429049. In case 2, the CN-AOH involved a 15.3 Mb block from genomic coordinates 54729197_70057534. In both cases, methylation-specific PCR did not detect an unmethylated allele for the SNRPN gene suggesting either a deletion of paternal allele or maternal UPD for chromosome 15. Since microarray analysis did not show any copy number alterations on chromosome 15, a microdeletion was ruled out. CONCLUSIONS: Based on our cases, we suggest that CN-AOH on chromosome 15, even if it does not involve the critical region of 15q12q13, should warrant additional studies for diagnosis of Prader-Willi/Angelman syndromes.

8.
Artículo en Inglés | MEDLINE | ID: mdl-34208785

RESUMEN

Young children's use of digital devices is increasing as we progress through the 21st century and handheld and mobile devices, such as smartphones and tablets, have become increasingly available. While older children using tablets to read has been more broadly investigated, less is known about the impacts of digital reading on children at the stage of literacy acquisition. An analytical review was conducted on the effects of interactive e-book interventions for young children's literacy development when compared to (a) listening to print books, (b) regular school programs, and (c) reading non-enhanced and non-interactive e-books. A significant additional beneficial effect of e-book interventions was found for phonological awareness and vocabulary learning based on data from 1138 children in 14 randomized controlled trial (RCT) studies. When e-books are properly selected and used, children develop literacy skills equally well and sometimes better than with print books. Additionally, e-book interventions outperformed the regular school program in the development of literacy skills. Similarly, enhanced e-book conditions revealed benefits over the non-enhanced e-book interventions in literacy skill acquisition. The impact of these findings related to health issues, e-book design, disadvantaged populations, and adult-led e-book sharing is discussed.


Asunto(s)
Alfabetización , Lectura , Adolescente , Adulto , Libros , Niño , Preescolar , Humanos , Relaciones Padres-Hijo , Ensayos Clínicos Controlados Aleatorios como Asunto , Vocabulario
9.
Mol Cytogenet ; 14(1): 8, 2021 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-33541390

RESUMEN

BACKGROUND: Mantle cell lymphoma (MCL) is derived from naïve CD5+ B-cells with the cytogenetic hallmark translocation 11;14. The presence of additional abnormalities is associated with blastoid variants in MCL (BMCL) and confers a poor prognosis. Many of these tumors also show deletion or loss of heterozygosity (LOH) of the ATM gene and biallelic ATM inactivation show significantly higher chromosomal imbalances. CASE PRESENTATION: Here we report a 52 year-old male who presented to the clinic with worsening dyspnea, fever, chills, diffuse lymphadenopathy, splenomegaly and leukocytosis with blastoid cells circulating in blood. The bone marrow aspirate showed about 40% abnormal blast-looking cells and biopsy revealed a remarkable lymphoid infiltrate. The patient was diagnosed with blastoid variant mantle cell lymphoma (BMCL). Chromosome analysis on bone marrow showed a complex karyotype. FISH analysis from B-cell lymphoma panel showed bi-allelic amplification of ATM gene. Other abnormalities were present including CCND1/IGH fusion, confirming the MCL diagnosis, in addition to RB1 and p53 deletion. High resolution SNP-microarray studies showed complex copy number changes, especially on chromosomes 7 and 11, consistent with chromoanagenesis. Microarray studies also showed LOH at the ATM locus indicating the amplification seen on FISH is not biallelic. CONCLUSION: To the best of our knowledge, ATM gene amplification is not previously reported in BMCL and our case suggests a novel mechanism of ATM inactivation caused by chromoanagenesis resulting in mutant allele specific imbalance with copy number gain.

10.
Methods Mol Biol ; 1769: 85-117, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29564820

RESUMEN

One of the well-known hallmarks of cancer is genomic instability. Although gradualism is a well-established process of cancer evolution, recent studies have shown that chromothripsis or chromoanasynthesis can result in complex genomic rearrangements by a single catastrophic event rather than several incremental steps. These two novel phenomena suggest an evolutionary modality for cancer cells to circumvent individual mutational events with one simultaneous shattering of chromosomes or chromosome regions resulting in the random reassembling of shattered genetic material to form complex derivative chromosomes. Although sequencing methods are ideal for the detection of chromothripsis, single-nucleotide polymorphism (SNP)-based microarray methods are also useful in detecting chromothripsis in biopsy samples. Issues related to sample collection, storage, and transport, especially with tumor biopsies, may limit the options for sequencing studies, and in such cases, SNP-based microarray may be a viable alternative for detecting chromothripsis.


Asunto(s)
Biopsia/métodos , Cromotripsis , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Variaciones en el Número de Copia de ADN , Neoplasias/diagnóstico , Neoplasias/genética , Hibridación de Ácido Nucleico , Reacción en Cadena de la Polimerasa , Flujo de Trabajo
11.
Case Rep Oncol Med ; 2017: 9249302, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29318069

RESUMEN

INTRODUCTION: Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. CASE REPORT: An 80-year-old female presented with pancytopenia and was diagnosed with MDS. Over time, she required hospitalizations for platelet transfusions with increased frequency. She developed fatigue and weakness along with gastrointestinal symptoms. On exam, she had diffuse abdominal tenderness and a maculopapular rash. Her lab results revealed a new basophilia. A bone marrow biopsy showed 100% cellularity with many aggregates of mast cells. Chromosomal analysis showed t(9;22) with confirmed BCR/ABL1 fusion by fluorescence in situ hybridization (FISH). DISCUSSION: MCL has a poor prognosis due to the aggressive nature of the disease and ineffective therapies. Translocation (9;22) is known to be associated with MDS transformations to acute leukemia; however, this translocation has never been reported in MCL. Further research on the relationship between t(9;22) and MCL could lead to development of improved therapeutic options.

12.
Neoplasia ; 18(4): 223-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27108385

RESUMEN

Genomic instability is a well-known hallmark of cancer. Recent genome sequencing studies have led to the identification of novel phenomena called chromothripsis and chromoanasynthesis in which complex genomic rearrangements are thought to be derived from a single catastrophic event rather than by several incremental steps. A new term chromoanagenesis or chromosomal rebirth was coined recently to group these two one-step catastrophic events together. These phenomena suggest an evolutionary modality for cancer cells to circumvent individual mutational events with one simultaneous shattering of chromosomes resulting in the random reassembling of segmented genetic material to form complex derivative chromosomes. We report a case of possible chromoanagenesis in a patient with diffuse large B-cell lymphoma. Chromosome analysis from the biopsy showed a complex karyotype with multiple numerical and structural rearrangements including a translocation of chromosomes 3 and 7 involving the BCL6 gene region, with the derivative chromosome further rearranging with chromosomes 14, 7, and 22 with involvement of the IGH gene region. Fluorescence in situ hybridization studies confirmed these findings. Chromosomal microarray studies showed multiple complex copy number variations including a chromosome 12 abnormality, the complexity of which appears to suggest the phenomenon of chromoanagenesis. Our case further illustrates that lymphomagenesis can be complex and may arise from a catastrophic event resulting in multiple complex chromosome rearrangements.


Asunto(s)
Linfoma de Células B/diagnóstico , Linfoma de Células B/genética , Translocación Genética , Bandeo Cromosómico , Femenino , Reordenamiento Génico , Inestabilidad Genómica , Humanos , Hibridación Fluorescente in Situ , Persona de Mediana Edad , Fenotipo , Polimorfismo de Nucleótido Simple
13.
Cancer Genet ; 209(3): 82-6, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26797313

RESUMEN

Fluorescence in situ hybridization (FISH) is superior to routine chromosome analysis (RCA) in detecting important prognostic genetic abnormalities in plasma cell dyscrasia (PCD); however, its sensitivity is hampered due to paucity of plasma cells (PC) in whole bone marrow (BM). Studies showed that the abnormality detection rate in enriched plasma cells (EPC) is greater than unselected plasma cells (UPC), but purification techniques are limiting to only FISH when sample volumes are inadequate. Not performing RCA may compromise patient care since RCA is equally important for detecting non-PC related abnormalities when the diagnosis is undefined. To resolve this critical issue, we designed a study where an immuno-magnetic CD138 enriched positive selection was used for FISH while the negative fraction (NF) was used to retrieve other myeloid elements for RCA. Parallel FISH studies were performed using UPC and CD138 EPC, while karyotyping was achieved using whole BM and discarded myeloid elements from the NF. Results showed that the abnormality rate of EPC was doubled compared to UPC for FISH, and CA displayed 100% success rate using the NF. PCD related chromosome abnormalities were confined to whole BM while non-PCD related abnormalities were found in both whole BM and NF. Our results demonstrate the feasibility of using the NF for RCA.


Asunto(s)
Aberraciones Cromosómicas , Paraproteinemias/genética , Células Plasmáticas/química , Sindecano-1/análisis , Anciano , Anciano de 80 o más Años , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad
14.
Exp Mol Pathol ; 97(1): 105-10, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24927873

RESUMEN

In 5-10% of cases with CML, variant or complex translocations (CT) are seen that may result in atypical fluorescence in situ hybridization signal patterns. Dual color, dual fusion fluorescence in situ hybridization (D-FISH) patterns are instrumental in identifying the genesis of these CT, but their prognostic implications remain controversial. The most common mechanism is a two-step process in which a standard two-way translocation (9;22) is followed by subsequent rearrangements involving other chromosomes. The second common mechanism is the one-step process wherein breakage occurs simultaneously on different chromosomes leading to CT. The typical D-FISH pattern seen with the one-step mechanism is 1F2G2R, while the pattern for the two-step mechanism can be variable (2F1G1R, 1F1G1R, 1F1G2R, 1F2G1R, etc.). We have studied 4 cases of CT using metaphase FISH with triple color, dual fusion ASS1, ABL1 and BCR probes to understand the genesis of these CT. All the patients were treated with imatinib, but only patients 3 and 4 showed remission. Our results indicate that the CT in cases 1, 3 and 4 arose from a one-step mechanism and case 2 from a multi-step mechanism. Response to imatinib varied from full remission to no response. Long term follow-up is necessary to evaluate the prognostic implications of these CT.


Asunto(s)
Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Translocación Genética , Adulto , Antineoplásicos/uso terapéutico , Benzamidas/uso terapéutico , Femenino , Proteínas de Fusión bcr-abl/genética , Humanos , Mesilato de Imatinib , Hibridación Fluorescente in Situ/métodos , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Piperazinas/uso terapéutico , Pronóstico , Pirimidinas/uso terapéutico
15.
Eur J Haematol ; 93(4): 354-8, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24673420

RESUMEN

We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript. Although such cryptic insertions leading to a PML-RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).


Asunto(s)
Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/genética , Mutagénesis Insercional , Proteínas de Fusión Oncogénica/genética , Cariotipo Anormal , Médula Ósea/patología , Análisis Citogenético , Femenino , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Persona de Mediana Edad , Pronóstico , Translocación Genética
16.
Case Rep Genet ; 2013: 951710, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23840982

RESUMEN

We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9). Parental chromosome analysis showed both parents to be carriers of inv(9) and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21) Roberstonian translocation in 11 cells and an unbalanced (21;21) Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9)(p11q13)x2,der(15;21)(q10;q10)[11]/46,XX,inv(9)(p11q13)x2,+21,der(21;21)(q10;q10). Mother was a carrier for the Cystic Fibrosis (delta F508), Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband's history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM) with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother.

17.
Exp Mol Pathol ; 94(1): 98-102, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23064050

RESUMEN

We previously hypothesized that cytogenetic abnormalities precede morphological abnormalities in developing malignant conditions. In this context we evaluated additional cases to further confirm that hypothesis. We report on 2 additional cases in which clonal cytogenetic abnormalities were observed in otherwise morphologically normal samples. Case 1 is a bone marrow from a 73 year old male with transformed follicular lymphoma (FL), while case 2 is a lymph node from a 53-year-old with lymphadenopathy, both referred to the cytogenetics laboratory for evaluation. A 73-year-old male presented with an enlarging left inguinal mass surrounding and obliterating the left iliac vein. A tissue core biopsy of the mass revealed recurrent high grade FL with diffuse large B-cell lymphoma (DLBCL). Examination of a random bone marrow biopsy of the adjacent left posterior iliac crest showed only mild hypercellularity (50%) and no evidence of malignancy, and the results were confirmed by flow cytometry. Cytogenetic evaluation revealed an interstitial deletion, del (9)(q13q32). In case 2, morphologically the lymph node showed extensive paracortical hyperplasia with numerous eosinophils and no clear indication of a neoplastic process with no abnormal lymphoid population observed by flow. PCR studies for TCR gamma and IgH gene rearrangements were negative for clonality. Chromosome analysis demonstrated 47,XY,+add(1)(p22),t(3;14)(q27;q11.2)[13]/46,XY[7]. FISH studies showed a BCL6 gene rearrangement but no TCRAD rearrangement. A subsequent inguinal lymph node biopsy showed DLBCL. These cases along with the other cases in the literature provide further evidence of genetic abnormalities preceding morphological abnormalities in developing malignant conditions.


Asunto(s)
Aberraciones Cromosómicas , Enfermedades Linfáticas/genética , Linfoma Folicular/genética , Anciano , Médula Ósea , Deleción Cromosómica , Análisis Citogenético , Reordenamiento Génico , Humanos , Cariotipificación , Enfermedades Linfáticas/patología , Linfoma Folicular/patología , Masculino , Persona de Mediana Edad , Translocación Genética
18.
Index enferm ; 20(1/2): 46-50, ene.-jun. 2011. tab
Artículo en Español | IBECS | ID: ibc-106884

RESUMEN

Objetivo: examinar la actitud de la mujer y su pareja, sobre el uso del espejo en el periodo expulsivo del parto. Método: estudio descriptivo transversal, realizado en el Hospital Universitario Fundación Alcorcón. A partir de un estudio piloto realizado sobre una muestra de 92 sujetos, se elaboró una escala de 14 ítems basada en la técnica del diferencial semántico. Una muestra de 159 sujetos completó la escala así como el cuestionario estado-rasgo (STAI). Resultados: el porcentaje de aceptación fue del 90%. Las puntuaciones medias superan el valor neutro en todos los ítems. El 88,5% (IC 95%:78,8 a 98,1) de la mujeres que experimentaron la vivencia consideraron que el uso del espejo estimula pujar frente al 73,6% (IC 95%:62,7 a 84,4) que lo manifestaron como expectativa. Conclusiones: El uso del espejo durante el periodo expulsivo es valorado favorablemente por la mayoría de las mujeres y sus parejas (AU)


Aims: To know the attitude of the woman and her partner the use of the mirror in the second stage of labor. Methods: This descriptive cross - sectional study was carried at Hospital Universitario Fundación Alcorcón (Madrid, Spain). The data were collected using an 14 Items scale based on the semantic differential technique developed from a pilot study with 92 subjects. A sample de 159 subjects they completed the scale, as well as the State Trait Anxiety Inventory (STAI). Results: The percentage of acceptance was of 90%. The mean score in the scale overcame the neutral value in all items. The 88,5% (CI 95%:78,8 a 98,1) of women who experienced the experience thought that the use of the mirror stimulates to push versus 73,6% (CI 95%:62,7 a 84,4) before the delivery. Conclusions: The use of the mirror during the second stage of labor is valued favorably by the majority of the women and her pairs (AU)


Asunto(s)
Humanos , Femenino , Embarazo , Diferencial Semántico , Biorretroalimentación Psicológica , Parto Normal/psicología , Chaperones Médicos
19.
Rev Med Inst Mex Seguro Soc ; 48(2): 159-62, 2010.
Artículo en Español | MEDLINE | ID: mdl-20929619

RESUMEN

There were three schools of medicine in Mexico at the beginning of the Independence time where the doctors and surgeons could learn. In the Faculty of Medicine of the University of Mexico, the most ancient and traditional, the humoral model balance based on medieval knowledge and scholastic method was the rule. At the end of the XVIII century, the Nueva España enrollment in the Illustration movement, this led to an opening period and development of the scientific world. Botany was incorporated to curriculum in medicine school and the students could through the courses of the Surgery College approached to new medical theories and other teaching model without restrictions.


Asunto(s)
Medicina Clínica/educación , Medicina Clínica/historia , Educación Médica/historia , Cirugía General/educación , Cirugía General/historia , Historia del Siglo XVI , Historia del Siglo XVII , México
20.
Rev Med Inst Mex Seguro Soc ; 48(5): 503-8, 2010.
Artículo en Español | MEDLINE | ID: mdl-21205500

RESUMEN

Around the end of century XVIII the surgery of Nueva España was integrated to the renovation process that was given in Europe from principles of the illustrated century. As a result, the Royal College of Surgery was created; this institution was responsible for the education of surgeons of the kingdom, introducing and spreading the new and modern medical surgical theories. During the war of independence the College demonstrated its importance when they needed the graduates and students to serve the army. In the independent Mexico, the College of Surgery changed its name to the National School of Surgery and its work was the preparation of surgical personnel. Several of the physicians promoted diverse projects to modernize the health disciplines, which resulted in the creation of the Establishment of Medical Sciences in 1833 bringing about the integration of the medical career.


Asunto(s)
Cirugía General/historia , Historia del Siglo XVIII , Historia del Siglo XIX , México
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