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1.
Anesth Analg ; 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38935540

RESUMO

BACKGROUND: Peripheral arterial line placement is a common, low-risk procedure in pediatric patients undergoing cardiac surgery. Central arterial cannulation may be used when peripheral cannulation is not feasible. At present, there are limited data to guide central arterial-line site selection in pediatric patients. We aimed to (1) quantify the rate of complications associated with central arterial-line placement in pediatric patients undergoing cardiac surgery, (2) determine risk factors associated with central arterial-line complications, and (3) describe placement trends during the last decade. METHODS: This was a retrospective, single-center cohort study of pediatric patients who underwent intraoperative placement of an axillary or femoral arterial line for cardiac surgery between July 1, 2012 and June 30, 2022. The primary outcome studied was the incidence of complications, defined as vascular compromise, pulse loss, ultrasound-confirmed thrombus or flow abnormality, and/or positive blood cultures not attributable to another source. Patients' characteristics and perioperative factors were analyzed using univariate and multivariate analysis to examine the relationship between these factors and line-associated complications. RESULTS: A total of 1263 central arterial lines were analyzed-195 axillary arterial lines and 1068 femoral arterial lines. The overall incidences of vascular compromise and pulse loss from central arterial-line placement were 17.8% and 8.3%, respectively. Axillary lines had lower rates of vascular compromise (6.2% vs 19.9%, P < .001), pulse loss (2.1% vs 9.5%, P < .001), and ultrasound-confirmed thrombus of flow abnormalities (14.3% vs 81.1%, P = .001) than femoral lines. Complications were more common in neonates and infants. By multivariate logistic regression, femoral location (odds ratio [OR], 4.16, 95% confidence interval [CI], 1.97-8.78), presence of a genetic syndrome (OR, 1.68, 95% CI, 1.21-2.34), prematurity (OR, 1.48, 95% CI, 1.02-2.15), and anesthesia time (OR, 1.17 per hour, 95% CI, 1.07-1.27 per hour) were identified as independent risk factors for vascular compromise. Femoral location (OR, 7.43, 95% CI, 2.08-26.6), presence of a genetic syndrome (OR, 1.86, 95% CI, 1.18-2.93), prematurity (OR, 1.65, 95% CI, 1.02-2.67), and 22-G catheter size (OR, 3.26, 95% CI, 1.16-9.15) were identified as independent risk factors for pulse loss. CONCLUSIONS: Axillary arterial access is associated with a lower rate of complications in pediatric patients undergoing cardiac surgery as compared to femoral arterial access. Serious complications are rare and were limited to femoral arterial lines in this study.

2.
Gut Microbes ; 15(1): 2172670, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36852457

RESUMO

Food additives have been linked to the pro-inflammatory microbial dysbiosis associated with Crohn's disease (CD) but the underlying ecological dynamics are unknown. Here, we examine how selection of food additives affects the growth of multiple strains of a key beneficial bacterium (Faecalibacterium prausnitzii), axenic clinical isolates of proinflammatory bacteria from CD patients (Proteus, Morganella, and Klebsiella spp.), and the consortia of mucosa-associated microbiota recovered from multiple Crohn's disease patients. Bacterial growth of the axenic isolates was evaluated using a habitat-simulating medium supplemented with either sodium sulfite, aluminum silicate, carrageenan, carboxymethylcellulose, polysorbate 80, saccharin, sucralose, or aspartame, intended to approximate concentrations found in food. The microbial consortia recovered from post-operative CD patient mucosal biopsy samples were challenged with either carboxymethylcellulose and/or polysorbate 80, and the bacterial communities compared to unchallenged consortia by 16S rRNA gene amplicon profiling. Growth of all F. prausnitzii strains was arrested when either sodium sulfite or polysorbate 80 was added to cultures at baseline or mid-exponential phase of growth, and the inhibitory effects on the Gram-negative bacteria by sodium sulfite were conditional on oxygen availability. The effects from polysorbate 80, saccharin, carrageenan, and/or carboxymethylcellulose on these bacteria were strain-specific. In addition to their direct effects on bacterial growth, polysorbate 80 and/or carboxymethylcellulose can drive profound changes in the CD mucosa-associated microbiota via niche expansion of Proteus and/or Veillonellaceae - both implicated in early Crohn's disease recurrence. These studies on the interaction of food additives with the enteric microbiota provide a basis for dietary management in Crohn's disease.


Assuntos
Doença de Crohn , Microbioma Gastrointestinal , Microbiota , Humanos , Aditivos Alimentares , Carragenina , Carboximetilcelulose Sódica , Polissorbatos/farmacologia , RNA Ribossômico 16S/genética , Sacarina , Bactérias/genética
3.
Cancer Immunol Immunother ; 72(3): 733-742, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36194288

RESUMO

BACKGROUND: The role of tumor-associated macrophages (TAMs) in glioblastoma (GBM) disease progression has received increasing attention. Recent advances have shown that TAMs can be re-programmed to exert a pro-inflammatory, anti-tumor effect to control GBMs. However, imaging methods capable of differentiating tumor progression from immunotherapy treatment effects have been lacking, making timely assessment of treatment response difficult. We showed that tracking monocytes using iron oxide nanoparticle (USPIO) with MRI can be a sensitive imaging method to detect therapy response directed at the innate immune system. METHODS: We implanted syngeneic mouse glioma stem cells into C57/BL6 mice and treated the animals with either niacin (a stimulator of innate immunity) or vehicle. Animals were imaged using an anatomical MRI sequence, R2* mapping, and quantitative susceptibility mapping (QSM) before and after USPIO injection. RESULTS: Compared to vehicles, niacin-treated animals showed significantly higher susceptibility and R2*, representing USPIO and monocyte infiltration into the tumor. We observed a significant reduction in tumor size in the niacin-treated group 7 days later. We validated our MRI results with flow cytometry and immunofluoresence, which showed that niacin decreased pro-inflammatory Ly6C high monocytes in the blood but increased CD16/32 pro-inflammatory macrophages within the tumor, consistent with migration of these pro-inflammatory innate immune cells from the blood to the tumor. CONCLUSION: MRI with USPIO injection can detect therapeutic responses of innate immune stimulating agents before changes in tumor size have occurred, providing a potential complementary imaging technique to monitor cancer immunotherapies. MANUSCRIPT HIGHLIGHT: We show that iron oxide nanoparticles (USPIOs) can be used to label innate immune cells and detect the trafficking of pro-inflammatory monocytes into the glioblastoma. This preceded changes in tumor size, making it a more sensitive imaging technique.


Assuntos
Glioblastoma , Glioma , Niacina , Camundongos , Animais , Monócitos/patologia , Glioma/patologia , Modelos Animais , Imageamento por Ressonância Magnética/métodos
4.
J Cardiothorac Vasc Anesth ; 36(12): 4364-4369, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36216687

RESUMO

OBJECTIVES: As life expectancy for patients born with congenital heart disease (CHD) continues to rise, these patients will present increasingly for noncardiac surgery during childhood and adolescence. This study aimed to map the lifespan of noncardiac surgical needs among patients with CHD and explore how these needs may change over time. DESIGN: All patients with CHD presenting for noncardiac surgery between 2008 and 2014 were selected for review. SETTING: The study was conducted at a single urban academic tertiary pediatric hospital. PARTICIPANTS: All patients with CHD presenting for noncardiac surgery during the study period were included and grouped by cardiac diagnosis. INTERVENTIONS: Descriptive analysis included patient demographics, CHD diagnosis, procedures performed, and clinical data, including baseline saturation and underlying cardiac function. MEASUREMENTS AND MAIN RESULTS: A total of 3,011 noncardiac surgical procedures were performed on patients with CHD during the study period. The most common CHD diagnoses were patent ductus arteriosus (27.6%), ventricular septal defects (24.7%), and patent foramen ovale (24.3%). The median age was 4 years, 87% of all the patients were ≤10 years, and 41% had associated syndromes. Of the patients, 76% underwent a preoperative echocardiogram, and 10% had depressed cardiac function at the time of surgery. The most common procedures performed were ear, nose, and throat (20%), general surgery (14%), and radiology (11%). Intraoperative events were reported in 488 out of 3,010 encounters (16.2%), with the highest rates reported in patients with single-ventricle physiology (55/179; 30.7%). CONCLUSIONS: These findings suggested a greater burden of noncardiac surgery in lower age groups, with ear, nose, and throat and general surgery most common in young children and orthopedic and dental procedures increasing in adolescence.


Assuntos
Cardiopatias Congênitas , Comunicação Interatrial , Comunicação Interventricular , Adolescente , Humanos , Criança , Pré-Escolar , Adulto , Fatores de Risco , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/cirurgia , Comunicação Interventricular/complicações , Comunicação Interatrial/complicações , Ecocardiografia , Estudos Retrospectivos
6.
Gynecol Oncol ; 163(3): 524-530, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34625284

RESUMO

BACKGROUND: Aromatase inhibitors have been used empirically to treat a subset of patients with hormone receptor positive uterine leiomyosarcomas(LMS) and carcinosarcomas (UCS) mainly supported by retrospective data. We evaluated the activity of anastrozole in two rare cohorts; patients with recurrent/metastatic LMS and UCS enrolled in PARAGON, a basket trial of anastrozole in estrogen receptor (ER+)/progesterone receptor positive (PR+) gynecological cancers. METHOD: An investigator-initiated, single-arm, prospective open-label trial of anastrozole 1 mg/day in patients with ER &/or PR + ve LMS or UCS with measurable disease, treated until progression or unacceptable toxicity. Primary endpoint was clinical benefit (complete/partial response + stable disease) rate (CBR) at 3 months. Secondary endpoints include progression-free survival (PFS), quality of life and toxicity. RESULTS: 39 eligible patients were enrolled, 32 with LMS and 7 with UCS. For the LMS cohort CBR at 3 months was 35% (95% CI: 21-53%) with a median duration of clinical benefit of 5.8 months. Best response was a partial response in one patient. Two patients remained on treatment for more than one year. The median progression-free survival was 2.8 months (95% CI: 2.6-4.9). For the UCS cohort CBR at 3 months was 43% (95% CI: 16-75%) with a median duration of clinical benefit of 5.6 months. Stable disease was seen in 3 patients but no objective responses were seen. The median progression-free survival was 2.7 months (95% CI, 1.1-8.2). Safety was acceptable with 5/39 evaluable patients showing grade 3 toxicities. CONCLUSION: Whilst objective response rates with anastrozole are low, the clinical benefit rate and good tolerance suggests that aromatase inhibitor therapy may have a role in a subset of patients with metastatic LMS and UCS.


Assuntos
Anastrozol/uso terapêutico , Carcinossarcoma/tratamento farmacológico , Leiomiossarcoma/tratamento farmacológico , Neoplasias Uterinas/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Anastrozol/efeitos adversos , Inibidores da Aromatase/efeitos adversos , Inibidores da Aromatase/uso terapêutico , Carcinossarcoma/metabolismo , Carcinossarcoma/patologia , Feminino , Humanos , Leiomiossarcoma/metabolismo , Leiomiossarcoma/patologia , Pessoa de Meia-Idade , Metástase Neoplásica , Estudos Prospectivos , Qualidade de Vida , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo , Neoplasias Uterinas/metabolismo , Neoplasias Uterinas/patologia
7.
ISME J ; 15(11): 3326-3338, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34035441

RESUMO

The mucosa-associated microbiota is widely recognized as a potential trigger for Crohn's disease pathophysiology but remains largely uncharacterised beyond its taxonomic composition. Unlike stool microbiota, the functional characterisation of these communities using current DNA/RNA sequencing approaches remains constrained by the relatively small microbial density on tissue, and the overwhelming amount of human DNA recovered during sample preparation. Here, we have used a novel ex vivo approach that combines microbe culture from anaerobically preserved tissue with metagenome sequencing (MC-MGS) to reveal patient-specific and strain-level differences among these communities in post-operative Crohn's disease patients. The 16 S rRNA gene amplicon profiles showed these cultures provide a representative and holistic representation of the mucosa-associated microbiota, and MC-MGS produced both high quality metagenome-assembled genomes of recovered novel bacterial lineages. The MC-MGS approach also produced a strain-level resolution of key Enterobacteriacea and their associated virulence factors and revealed that urease activity underpins a key and diverse metabolic guild in these communities, which was confirmed by culture-based studies with axenic cultures. Collectively, these findings using MC-MGS show that the Crohn's disease mucosa-associated microbiota possesses taxonomic and functional attributes that are highly individualistic, borne at least in part by novel bacterial lineages not readily isolated or characterised from stool samples using current sequencing approaches.


Assuntos
Doença de Crohn , Microbiota , Humanos , Metagenoma , Metagenômica , Mucosa
8.
Clin Lymphoma Myeloma Leuk ; 21(4): 230-237.e12, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33558202

RESUMO

BACKGROUND: Minimal residual disease (MRD) monitoring has been used to identify early molecular relapse and predict clinical relapse in mantle cell lymphoma (MCL). Few published data exist in MCL on the performance of next-generation sequencing-based assay of immunoglobulin gene rearrangements for MRD assessment. PATIENTS AND METHODS: In a prospective clinical trial (NCT01484093) with intensive induction chemotherapy and autologous stem-cell transplantation, posttreatment peripheral blood samples were collected from 16 MCL patients and analyzed with an earlier version of the Adaptive Biotechnologies MRD assay. RESULTS: Of the 7 patients whose disease remained in remission, the MRD test remained negative in 5 (71%). Of the 9 patients who experienced relapse, the MRD test was positive at least 3 months before relapse in 6 patients (67%) and positive at the time of relapse in 1 patient (11%). All patients with at least 2 positive MRD tests experienced relapse. CONCLUSION: The next-generation sequencing-based MRD assay identified early molecular relapse, and we observed more sensitivity in the cellular (circulating leukocytes) versus acellular (plasma cell-free DNA) compartment. This observation may be due to availability of tumor target or a limitation of the assay.


Assuntos
DNA de Neoplasias/sangue , Linfoma de Célula do Manto/sangue , Linfoma de Célula do Manto/diagnóstico , Recidiva Local de Neoplasia/sangue , Recidiva Local de Neoplasia/diagnóstico , Idoso , Quimiorradioterapia , Feminino , Rearranjo Gênico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imunoglobulinas/genética , Imunoterapia , Quimioterapia de Indução , Linfoma de Célula do Manto/genética , Linfoma de Célula do Manto/terapia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/genética , Neoplasia Residual , Células Neoplásicas Circulantes , Estudos Prospectivos , Indução de Remissão , Transplante de Células-Tronco , Transplante Autólogo
9.
Archaeol Anthropol Sci ; 12(10): 243, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33088349

RESUMO

A Pb-based synthetic mineral referred to as psimythion (pl. psimythia) was manufactured in the Greek world at least since the 6th c BCE and routinely by the 4th c BCE. Theophrastus (On Stones, 56) describes its preparation from metallic Pb suspended over a fermenting liquid. Psimythion is considered the precursor of one of western art's most prominent white pigments, i.e. lead white (basic lead carbonate or synthetic hydrocerussite). However, so far, and for that early period, published analyses of psimythia suggest that they consisted primarily of synthetic cerussite. In this paper, we set out to investigate how it was possible to manufacture pure cerussite, to the near exclusion of other phases. We examined the chemical and mineralogical composition (pXRF/XRD) of a small number of psimythion pellets found within ceramic pots (pyxis) from Athens and Boeotia (5th-4th c BCE) in the collection of the National Archaeological Museum (NAM), Athens. Analyses showed that the NAM pellets consisted primarily of Pb/cerussite with small amounts of Ca (some samples) and a host of metallic trace elements. We highlight the reference in the Theophrastus text to 'spoiled wine' (oxos), rather than 'vinegar', as has been previously assumed, the former including a strong biotic component. We carried out DNA sequencing of the pellets in an attempt to establish presence of microorganisms (Acetic Acid Bacteria). None was found. Subsequently, and as a working hypothesis, we propose a series of (biotic/abiotic) reactions which were likely to have taken place in the liquid and vapour phases and on the metal surface. The hypothesis aims to demonstrate that CO2 would be microbially induced and would increase, as a function of time, resulting in cerussite forming over and above hydrocerussite/other Pb-rich phases. Psimythion has for long been valued as a white pigment. What has perhaps been not adequately appreciated is the depth of empirical understanding from the part of psimythion manufacturers of the reactions between abiotic and biotic components within 'oxos'/pot, as key drivers of minerals synthesis. Ultimately, psimythion manufacture may rest in understanding the nature of 'oxos', antiquity's relatively little researched strongest acid.

10.
CES med ; 33(3): 231-240, sep.-dic. 2019. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1055553

RESUMO

Resumen Histológicamente, los tumores testiculares de células germinales pueden clasificarse como tumores de tipo no seminoma y seminoma. De este último se reconocen tres variantes: "anaplásica", "espermatocítica" y "clásica", la cual puede ser gonadal o extragonadal. En este subtipo el tumor tiene origen en las células germinales, aunque no inicia en las gónadas sino en otras regiones anatómicas como el mediastino o el retroperitoneo. Presentamos el caso de un paciente de 19 años quien inicialmente presentó un cuadro clínico compatible con síndrome de vena cava superior y trombosis yugular. El diagnóstico de la neoplasia se obtuvo mediante biopsia por toracotomía.


Abstract Histologically, germ cell testicular tumors can be classified as nonseminoma and seminoma tumors. Of the latter, three variants are recognized: "ana plastic", "spermatocytic" and "classical", which may be gonadal or extrago nadal. In this subtype, the tumor originates in the germ cells, although it does not start in the gonads but in other anatomical regions such as the mediastinum or the retroperitoneum. We present a case of a 19-year-old patient who initially presented clinical sintomatology compatible with su perior vena cava syndrome and jugular thrombosis. The diagnosis of the neoplasm was obtained by thoracotomy biopsy.

11.
Br J Oral Maxillofac Surg ; 57(8): 788-790, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31345579

RESUMO

Glomus tumours in the lip are extremely rare with only 13 cases, including this one, recorded in the English language that we know of. We report a 45-year-old woman with a firm, mildly painful lump in her upper lip. Excisional biopsy examination and histopathological analysis showed it to be a subtype of glomus tumour called a glomangioma.


Assuntos
Tumor Glômico , Neoplasias Labiais , Feminino , Tumor Glômico/diagnóstico , Tumor Glômico/cirurgia , Humanos , Lábio , Neoplasias Labiais/diagnóstico , Neoplasias Labiais/cirurgia , Pessoa de Meia-Idade , Mucosa Bucal , Dor , Pele
12.
Tech Coloproctol ; 22(9): 649-655, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30255213

RESUMO

Achieving a high-quality total mesorectal excision (TME) resection specimen is a central tenet of curative rectal cancer management. However, operating at the caudal extremity of the pelvis is inherently challenging and a number of patient- and tumour-related factors may increase the risk of obtaining a poor TME specimen and positive resection margins. Transanal TME (TaTME) is an advanced surgical technique developed to overcome the limitations in pelvic exposure and instrumentation of transabdominal surgery. This up-to-date narrative review describes the evolution of TME surgery, the indications for TaTME, current published outcomes, its limitations and future developments.


Assuntos
Neoplasias Retais/cirurgia , Cirurgia Endoscópica Transanal/efeitos adversos , Cirurgia Endoscópica Transanal/métodos , Humanos , Cirurgia Endoscópica Transanal/educação , Resultado do Tratamento
15.
Tech Coloproctol ; 22(7): 529-533, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29987695

RESUMO

Robotic transanal minimally invasive surgery (TAMIS) (RT) represents a compelling new alternative capable of overcoming the limitations of conventional TAMIS for the local excision of rectal lesions. We describe our RT technique using the dVXi™ (Intuitive Surgical, Sunnyvale, CA, USA) which we have used to efficiently and completely excise eight cases of rectal lesions which were not endoscopically resectable. We also include a video vignette of the procedure. With the patient in the prone jackknife position, we insert a GelPOINT™ Path Transanal Access Platform (Applied Medical, Rancho Santa Margarita, CA, USA) in combination with the dVXi and AirSeal™ insufflation system (Conmed, Niagara. Falls, ON, Canada). Our technique aims to be ergonomically efficient to minimise docking difficulties and to reduce instrument clash in the limited space, whilst maximising the capabilities of the dVXi for RT. At 3-month endoscopic follow-up, no evidence of recurrence was detected in any of the eight patients. RT is safe, feasible and has advantages over conventional laparoscopic TAMIS (LT). Our described technique addresses some of the long-standing challenges of LT and the novel RT. The immediate challenge to its widespread use remains the cost, expertise and availability.


Assuntos
Pólipos Intestinais/cirurgia , Reto/cirurgia , Procedimentos Cirúrgicos Robóticos/métodos , Cirurgia Endoscópica Transanal/métodos , Feminino , Humanos , Pólipos Intestinais/patologia , Pessoa de Meia-Idade , Reto/patologia , Procedimentos Cirúrgicos Robóticos/instrumentação , Cirurgia Endoscópica Transanal/instrumentação , Resultado do Tratamento
16.
Travel Med Infect Dis ; 22: 51-57, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29288739

RESUMO

BACKGROUND: In Colombia, taeniasis and cysticercosis have been significantly reduced over the past decades, however still reported with implications for public health and travel medicine. METHODS: An observational, retrospective study, in which the incidence of taeniasis and cysticercosis (ICD-10 codes B68s/B69s) in Colombia, 2009-2013, was estimated based on data extracted from the Individual Health Records System (Registro Individual de Prestación de Servicios, RIPS) was performed. The Geographic Information System (GIS) generated national maps showing the distribution of taeniasis and cysticercosis by department by year. RESULTS: During the period, 3626 cases were reported (median 796/year), for a cumulative crude national rate of 7.7 cases/100,000pop; 58.2% corresponded to male; 57% were <40 year-old (10.2% < 9.9 year-old). Cases were 57.6% neurocysticercosis, the rest were taeniasis due to T. solium, T. saginata, ocular cysticercosis and cysticerci in other organs. Bolivar, a touristic department, had the highest cumulated incidence rate (16.17 cases/100,000pop), as also evident across the map series developed in this study. CONCLUSION: Despite the limitations of this study, data presented provide recent estimates of national taeniasis and cysticercosis incidence in the country useful in public health and for travel medicine practitioners, as some highly touristic areas presented higher disease incidence. Improved control, particularly of taeniasis, should be an attainable goal, which among other strategies would require improved sanitation and health education to prevent transmission, but also enhanced surveillance.


Assuntos
Cisticercose/epidemiologia , Saúde Pública , Teníase/epidemiologia , Medicina de Viagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Criança , Pré-Escolar , Colômbia/epidemiologia , Feminino , Sistemas de Informação Geográfica , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Doenças Negligenciadas/epidemiologia , Estudos Retrospectivos , Adulto Jovem
18.
Colorectal Dis ; 2017 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-29227015

RESUMO

Anastomotic leaks are a dreaded complication of all colorectal surgery with the main factors contributing to it being tension on the anastomosis, intra-abdominal or systemic sepsis, distal obstruction, inadequate blood supply and improper surgical techniques. The leak rate of left-sided high colorectal resections can have a clinically significant leak rate from as low as 1-5% in high anterior resections to 7.9% in low anastomoses. This article is protected by copyright. All rights reserved.

19.
Curr Oncol ; 24(6): e441-e445, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29270053

RESUMO

OBJECTIVE: We set out to identify and offer genetic testing to the 5%-10% of pediatric cancer patients who have been estimated to carry germline mutations in inherited cancer predisposition syndromes. Clinical genetic testing has become widely available, and thus in busy oncology clinics, tools are needed to identify patients who could benefit from a referral to genetics. METHODS: We studied the clinical utility of administering a family history form in the pediatric oncology long-term follow-up clinic to identify patients who might have an inherited cancer predisposition syndrome. Genetic testing involved primarily Sanger sequencing in clia (Clinical Laboratory Improvement Amendments)-certified laboratories. RESULTS: Of 57 patients who completed forms, 19 (33.3%) met criteria for referral to genetics. A significant family history of cancer was present for 4 patients, and 12 patients underwent genetic testing. Of 18 genetic tests ordered, none identified a pathogenic mutation, likely because of a small sample size and a candidate-gene approach to testing. Three families were also identified for further assessment based on a family history of breast cancer, with two of families having members eligible for BRCA1 and BRCA2 testing. CONCLUSIONS: Genetic testing in pediatric oncology patients is important to guide the management of patients who have an inherited cancer predisposition syndrome and to identify other family members at risk when mutations are identified. When no mutations are identified, that information is often reassuring to families who are worried about siblings. However, in the absence of an identified genetic cause in a patient, some uncertainty remains.

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