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1.
J Pediatr Hematol Oncol ; 44(3): e788-e791, 2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33902061

RESUMEN

Sinusoidal obstruction syndrome (SOS), formerly veno-occlusive disease (VOD), in pediatric cancer patients often presents as a complication of hematopoietic stem cell transplantation, and less commonly secondary to nontransplant-associated chemotherapy. Therapy with defibrotide is well-described as standard care for transplant-associated SOS/VOD, but the treatment of nontransplant-associated SOS/VOD is less clear. We report a 3-year-old with relapsed Wilms tumor and recurrent SOS/VOD, with successful use of defibrotide during chemotherapy. A review of pediatric cancer patients with nontransplant-associated SOS/VOD treated with defibrotide revealed 83 patients, and 66 were in remission. This review supports early treatment with defibrotide in patients with nontransplant-associated SOS/VOD.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Enfermedad Veno-Oclusiva Hepática , Neoplasias Renales , Niño , Preescolar , Femenino , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Enfermedad Veno-Oclusiva Hepática/inducido químicamente , Enfermedad Veno-Oclusiva Hepática/tratamiento farmacológico , Humanos , Neoplasias Renales/tratamiento farmacológico , Masculino , Recurrencia Local de Neoplasia/tratamiento farmacológico , Polidesoxirribonucleótidos/uso terapéutico
2.
Pediatr Blood Cancer ; 65(2)2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28921939

RESUMEN

BACKGROUND: Orthotopic liver transplantation (OLT) is considered the standard for children with hepatoblastoma (HB) in whom complete surgical resection is not possible. However, OLT is not always available or feasible. OBJECTIVE: To describe the outcome of children with HB who were initially deemed unresectable and underwent complex hepatectomy with planned close margins, and ultimately avoided OLT. METHODS: Demographic data, surgical and pathologic details, and survival information were collected from children treated for HB between January 2010 to December 2015. RESULTS: Among six children (median age 12 months (3-41 months)), PRETEXT classification was III (n = 2), III/IV (n = 1), and IV (n = 3). Patients received a median of six cycles (range 4-7) of platinum-based induction chemotherapy; five received doxorubicin. Experienced pediatric surgeons performed extended right and left hepatectomy in five and one patients, respectively, with assistance of an experienced liver transplant surgeon (n = 4). Microscopic margins were positive (n = 2) and negative but close (n = 4; 2-5 mm). Two patients required vascular reconstruction of the vena cava. At median follow-up of 3.3 years (1.7-4.6 years), there was no evidence of local recurrence. One patient had recurrence of pulmonary disease 3 months after surgery. CONCLUSIONS: Patients with advanced HB treated with complex surgical resections with positive or close negative margins had good outcomes without OLT. We suggest that planned positive or close microscopic margins in highly selected HB patients may spare the morbidity of OLT and offer an alternative for those ineligible for OLT. Our experience illustrates the importance of a multidisciplinary team specialized in the management of liver tumors.


Asunto(s)
Hepatectomía , Hepatoblastoma/terapia , Quimioterapia de Inducción , Neoplasias Hepáticas/terapia , Hígado/cirugía , Preescolar , Femenino , Estudios de Seguimiento , Hepatoblastoma/mortalidad , Hepatoblastoma/patología , Humanos , Lactante , Hígado/patología , Neoplasias Hepáticas/mortalidad , Neoplasias Hepáticas/patología , Masculino
3.
Pediatr Blood Cancer ; 64(12)2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28509377

RESUMEN

We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants.


Asunto(s)
Exoma/genética , Fibroma/genética , Histonas/genética , Mutación , Neoplasias de los Tejidos Blandos/congénito , Neoplasias de los Tejidos Blandos/genética , Secuencia de Bases , Fibroma/congénito , Fibroma/patología , Humanos , Lactante , Recién Nacido , Patología Molecular , Neoplasias de los Tejidos Blandos/patología
4.
J Pediatr Hematol Oncol ; 39(6): 476-480, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-27782926

RESUMEN

Providing the best care in both the inpatient and outpatient settings to pediatric oncology patients is all programs goal. Using continuous improvement methodologies, we changed from a solely team-based physician care model to a hybrid model. All patients were assigned a dedicated oncologist. There would then be 2 types of weeks of outpatient clinical service. A "Doc of the Day" week where each oncologist would have a specific day in clinic when their assigned patients would be scheduled, and then a "Doc of the Week" week where one physician would cover clinic for the week. Patient satisfaction surveys done before and 14 months after changing the model of care showed that patients were very satisfied with the care they received in both models. A questionnaire to staff 14 months after changing showed that the biggest effect was increased continuity of care, followed by more efficient clinic workflow and increased consistency of care. Staff felt it provided better planning and delivery of care. A hybrid model of care with a primary physician for each patient and assigned clinic days, alternating with weeks of single physician coverage is a feasible model of care for a medium-sized pediatric oncology program.


Asunto(s)
Planificación en Salud Comunitaria/normas , Continuidad de la Atención al Paciente/normas , Atención a la Salud/métodos , Satisfacción del Paciente , Niño , Humanos , Pacientes Internos , Pacientes Ambulatorios , Flujo de Trabajo
5.
Am J Med Genet A ; 167(6): 1337-41, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25899773

RESUMEN

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of connective tissue that begins during the first decade of life. Our patient presented with intrauterine growth retardation, respiratory distress, neonatal onset soft tissue masses, bilateral hallux valgus, and congenital anomalies of the thyroid and uterus. She was initially diagnosed with atypical infantile myofibromatosis based on clinical and pathological findings. She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP. This patient highlights the utility of WES as an early diagnostic tool in the investigation of patients with unusual presentations of rare diseases, thereby providing clinicians with accurate molecular diagnoses and the opportunity to tailor clinical management to improve patient care.


Asunto(s)
Receptores de Activinas Tipo I/genética , Retardo del Crecimiento Fetal/genética , Hallux Valgus/genética , Mutación , Miositis Osificante/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Preescolar , Exoma , Resultado Fatal , Femenino , Retardo del Crecimiento Fetal/diagnóstico , Retardo del Crecimiento Fetal/patología , Hallux Valgus/diagnóstico , Hallux Valgus/patología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Miositis Osificante/diagnóstico , Miositis Osificante/patología , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/patología , Glándula Tiroides/anomalías , Útero/anomalías
6.
J Pediatr ; 165(2): 348-355.e2, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24928703

RESUMEN

OBJECTIVE: To compare knowledge, attitudes, and risks related to pet contact in households with and without immunocompromised children. STUDY DESIGN: A questionnaire was distributed to parents of children diagnosed with cancer (immunocompromised; n=80) or diabetes (immunocompetent; n=251) receiving care at the Children's Hospital of Eastern Ontario. Information was collected on knowledge of pets as sources of disease, concerns regarding pet-derived pathogens, and pet ownership practices. Data were analyzed with multivariable logistic regression. RESULTS: The questionnaire was completed by 65% (214 of 331) of the individuals to whom it was given. Pet ownership was common; 45% of respondents had a household pet when their child was diagnosed, and many (households with a child with diabetes, 49%; households with a child with cancer, 20%) acquired a new pet after diagnosis. Most households that obtained a new pet had acquired a pet considered high risk for infectious disease based on species/age (diabetes, 73%; cancer, 77%). Parents of children with cancer were more likely than parents of children with diabetes to recall being asked by a physician/staff member if they owned a pet (OR, 5.9) or to recall receiving zoonotic disease information (OR, 5.3), yet these interactions were reported uncommonly (diabetes, ≤13%; cancer, ≤48%). Greater knowledge of pet-associated pathogens was associated with recalled receipt of previous education on this topic (OR, 3.9). Pet exposure outside the home was reported frequently for children in non-pet-owning households (diabetes, 48%; cancer, 25%). CONCLUSION: Improved zoonotic disease education is needed for pet-owning and non-pet-owning households with immunocompromised children, with ongoing provision of information while the children are at increased risk of disease. Additional efforts from pediatric and veterinary healthcare professionals are required.


Asunto(s)
Diabetes Mellitus/inmunología , Conocimientos, Actitudes y Práctica en Salud , Huésped Inmunocomprometido/inmunología , Neoplasias/inmunología , Mascotas , Encuestas y Cuestionarios , Zoonosis/epidemiología , Adolescente , Animales , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Ontario/epidemiología , Factores de Riesgo , Zoonosis/transmisión
7.
Support Care Cancer ; 22(3): 689-95, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24203086

RESUMEN

PURPOSE: The first objective of the current investigation was to explore the relationships between adolescents and young adults' (AYA) experiences of stress and social support resources (i.e., perceived social support and support group involvement) following treatment for cancer. The second objective was to examine the relationship between stress and physical activity behavior, and test if social support resources are moderators of this relationship. METHODS: AYAs (N = 64; mean age = 28.8 years, standard deviation (SD) = 5.5 years; mean time since diagnosis = 2.9, SD = 3.0 years) completed an online questionnaire. Data were analyzed using correlation and hierarchical multivariate linear regression analyses. RESULTS: Stress was negatively related to perceived social support, support group involvement, and physical activity behavior. Support group involvement, but not perceived social support, moderated the association between stress and physical activity behavior. CONCLUSIONS: Findings suggest establishing support groups, as part of psychosocial rehabilitation services, may help to reduce stress and promote an active lifestyle in AYAs treated for cancer.


Asunto(s)
Ejercicio Físico , Neoplasias/psicología , Apoyo Social , Estrés Psicológico , Adulto , Estudios de Cohortes , Femenino , Humanos , Masculino , Servicios de Salud Mental , Neoplasias/epidemiología , Grupos de Autoayuda , Encuestas y Cuestionarios , Adulto Joven
8.
Radiol Case Rep ; 19(6): 2381-2389, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38572274

RESUMEN

Ewing sarcoma is the second most frequent primary bone tumour of childhood and adolescence. The aim of this report is to describe the imaging, pathology, clinical findings, and treatment of a primary intradural extramedullary Ewing sarcoma with a unique intracranial metastatic component in a pediatric patient. A 14-year-old girl with a history of mood disorders presented to the emergency department with a 3-week history of neck torticollis, cervical pain, paresis, and paresthesia of the upper and lower extremities on the left side. Initially, non-organic causes such as somatization or conversion disorder were suspected. She returned 3 months later when her symptoms worsened. MRI of the head and spine was performed, and demonstrated the presence of a suprasellar, retro-chiasmatic mass lesion. There was also diffuse leptomeningeal enhancement, another well-defined intradural extramedullary lesion the sacral region and several multifocal cauda equina soft tissue nodules. The patient first underwent surgery. The patient was also treated with a combination of chemotherapy (vincristine, doxorubicin and cyclophosphamide alternating with ifosfamide and etoposide (VDC/IE)) and radiation as per the Children's Oncology Group AEWS1221 protocol. Most recent imaging conducted 22 months after the initial mass discovery revealed improvement of the suprasellar mass lesion with residual stable appearance of the prominence and enhancement of the pituitary stalk and tuber cinereum. There was interval improvement of the spinal lesions with no convincing residual. Clinically, at almost three years since initial imaging findings, and 25 months since completing treatment, she is stable from an oncology perspective.

9.
Pediatr Blood Cancer ; 60(10): 1671-5, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23776184

RESUMEN

BACKGROUND: Transfusion of packed red blood cells is common in pediatric cancer patients who receive chemotherapy. This study was done to identify characteristics of pediatric cancer patients at risk of hyperferritinemia secondary to frequent transfusions. PROCEDURE: In this retrospective chart review, all pediatric cancer patients who completed chemotherapy from January 2007 to January 2012 and had an assessment of serum ferritin 6 months after the end of treatment were included. Variables included: age, sex, type of cancer diagnosis, weight and body surface area (BSA) at the time of diagnosis, number of transfusions, total transfused volume (TTV), total transfused volume per body weight (TVPBW), and weight and BSA change from the time of diagnosis to the time of ferritin check. RESULTS: Of 109 eligible patients, 85 (78%) received transfusions. Sixteen patients (14.7%) had ferritin levels > 200 µg/L and four (3.7%) had ferritin levels > 1,000 µg/L. Although age, weight and BSA at cancer diagnosis, number of transfusions and TVPBW were correlated with the level of ferritin, independent risk factors were TTV (range 1,961-30,090 ml in patients with hyperferritinemia, P < 0.001) and BSA change from the time of diagnosis to the time of ferritin check (range -0.15 to 0.31 m(2) in patients with hyperferritinemia, P < 0.001). Increase in BSA was correlated with reduction of hyperferritinemia in follow-up ferritin measurements (P = 0.049). CONCLUSIONS: In addition to TTV, change in BSA is an independent predictor for the degree and possibly persistence of hyperferritinemia in pediatric cancer patients and should be considered in decisions to initiate interventions.


Asunto(s)
Transfusión de Eritrocitos/efectos adversos , Trastornos del Metabolismo del Hierro/sangre , Trastornos del Metabolismo del Hierro/etiología , Neoplasias/sangre , Neoplasias/terapia , Adolescente , Superficie Corporal , Peso Corporal , Niño , Preescolar , Femenino , Ferritinas/sangre , Humanos , Trastornos del Metabolismo del Hierro/epidemiología , Masculino , Neoplasias/epidemiología , Estudios Retrospectivos , Factores de Riesgo
10.
JPGN Rep ; 4(4): e355, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38034423

RESUMEN

Background: In adults with medically refractory sinusoidal obstruction syndrome (SOS), a transjugular intrahepatic portosystemic shunt (TIPS) has been used successfully to improve portal hypertension and symptoms such as ascites. There is limited data on the use of TIPS for SOS in pediatric patients. Methods: The index case was reviewed retrospectively. PubMed and Medline databases were searched to identify other cases. Results: A 4-year-old male with high-risk neuroblastoma, developed SOS after tandem autologous stem cell transplant. He was medically managed with defibrotide, diuretics, and peritoneal drainage, but, due to refractoriness, he underwent TIPS day +54 following bone marrow transplant. Hepatic venous pressure gradient improved from 17 to 8 mm Hg following TIPS placement with significant improvement in the patient's clinical status and ascites. However, 15 months later, his shunt remained patent, and he remains clinically well with stable liver enzymes. A literature review identified 13 pediatric cases of TIPS for SOS due to varied causes. TIPS caused a median hepatic venous pressure gradient of 9 mmHg (range, 2-38 mm Hg). The mortality following the procedure was 15%, with 2 cases who died at 2- and 11-days post-TIPS. At the time of the last follow-up (range 8-25 months), 5 patients were alive, and 8 were lost to follow-up. Conclusion: We present here a pediatric case of SOS due to stem cell transplant treated successfully with TIPS with a review of the literature. A timely, individualized application of TIPS can be effective in treating children with medication-refractory SOS.

11.
J Pediatr Adolesc Gynecol ; 36(4): 424-427, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36669618

RESUMEN

BACKGROUND: Wilms' tumor is the second most common pediatric abdominal cancer; however, it rarely involves the female reproductive tract. There are few cases reported in the literature describing uterine, ovarian, cervical, and vaginal involvement. CASE: We report the case of a 7-year-old girl presenting with a large renal mass with retroperitoneal nodal and lung metastases; she was diagnosed with stage 4 favorable histology Wilms' tumor. She was treated with surgery, chemotherapy, and radiation. She presented with vaginal bleeding 10 months after completing treatment; biopsy of a vaginal mass confirmed recurrence, and this was sent for molecular profiling, which did not identify an inherited cancer predisposition or targetable mutation. She was again treated with chemotherapy; examination redemonstrated a small vaginal mass, but re-biopsy of the lesion was negative for malignancy. Due to high risk of local relapse, ongoing chemotherapy and pelvic radiation ensued. End-of-treatment imaging and vaginoscopy showed no residual disease. SUMMARY AND CONCLUSION: Vaginal metastases of Wilms' tumor are very rare; this is the second reported case in the literature. Pediatric clinicians should have a strong suspicion for vaginal metastases in cancer patients presenting with vaginal bleeding, especially when their pubertal development does not suggest that bleeding would be secondary to menarche. Long-term gynecologic care for these patients is paramount to reduce morbidity from chemotherapy and pelvic radiation. Fertility preservation counselling should be made early, through referral to a specialist.


Asunto(s)
Neoplasias Renales , Neoplasias Vaginales , Tumor de Wilms , Humanos , Niño , Femenino , Neoplasias Renales/tratamiento farmacológico , Neoplasias Renales/patología , Recurrencia Local de Neoplasia , Tumor de Wilms/tratamiento farmacológico , Tumor de Wilms/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Vaginales/tratamiento farmacológico
12.
Can J Kidney Health Dis ; 9: 20543581221130156, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36325265

RESUMEN

Background: Approximately 30% of childhood cancer survivors (CCSs) will develop chronic kidney disease (CKD) or hypertension 15 to 20 years after treatment ends. The incidence of CKD and hypertension in the 5-year window after cancer therapy is unknown. Moreover, extent of monitoring of CCS with CKD and associated complications in current practice is underexplored. To inform the development of new and existing care guidelines for CCS, the epidemiology and monitoring of CKD and hypertension in the early period following cancer therapy warrants further investigation. Objective: To describe the design and methods of the KIdney aNd blooD prESsure ouTcomes in Childhood Cancer Survivors study, which aims to evaluate the burden of late kidney and blood pressure outcomes in the first ~10 years after cancer therapy, the extent of appropriate screening and complications monitoring for CKD and hypertension, and whether patient, disease/treatment, or system factors are associated with these outcomes. Design: Two distinct, but related studies; a prospective cohort study and a retrospective cohort study. Setting: Five Ontario pediatric oncology centers. Patients: The prospective study will involve 500 CCS at high risk for these late effects due to cancer therapy, and the retrospective study involves 5,000 CCS ≤ 18 years old treated for cancer between January 2008 and December 2020. Measurements: Chronic kidney disease is defined as Estimated glomerular filtration rate <90 mL/min/1.73 m2 or albumin-to-creatinine ratio ≥ 3mg/mmol. Hypertension is defined by 2017 American Academy of Pediatrics guidelines. Methods: Prospective study: we aim to investigate CKD and hypertension prevalence and the extent to which they persist at 3- and 5-year follow-up in CCS after cancer therapy. We will collect detailed biologic and clinical data, calculate CKD and hypertension prevalence, and progression at 3- and 5-years post-therapy. Retrospective study: we aim to investigate CKD and hypertension monitoring using administrative and health record data. We will also investigate the validity of CKD and hypertension administrative definitions in this population and the incidence of CKD and hypertension in the first ~10 years post-cancer therapy. We will investigate whether patient-, disease/treatment-, or system-specific factors modify these associations in both studies. Limitations: Results from the prospective study may not be generalizable to non-high-risk CCS. The retrospective study is susceptible to surveillance bias. Conclusions: Our team and knowledge translation plan is engaging patient partners, researchers, knowledge users, and policy group representatives. Our work will address international priorities to improve CCS health, provide the evidence of new disease burden and practice gaps to improve CCS guidelines, implement and test revised guidelines, plan trials to reduce CKD and hypertension, and improve long-term CCS health.

14.
Disabil Rehabil ; 43(19): 2704-2712, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-31957500

RESUMEN

BACKGROUND: Physical activity confers many physical and psychosocial benefits for adolescent and young adult cancer survivors, yet most are not active enough to accrue benefits. Parental support for physical activity may be important to consider when exploring factors that influence physical activity in this population. PURPOSE: Explore adolescent and young adult cancer survivors' experiences of parental support for physical activity received and their parents' experiences of support provided. METHODS: Ten adolescent and young adult cancer survivors (Mage = 17.4 ± 3.2 years; 70% male) and one of their parents (50% fathers) were interviewed separately. Data were analyzed thematically. RESULTS: Participants' experiences were summarized into three main themes: (1) the basics - instrumental, informational, and emotional support, (2) companionship support - doing it together, and (3) role modeling - a double-edged sword. In general, there was congruence between participants' perceptions of the types of support provided and received for physical activity. However, parents felt their role was to provide instrumental, informational, and emotional support, whereas adolescent and young adult cancer survivors emphasized the importance of companionship support. CONCLUSIONS: Findings underscore the complexity of parental support for physical activity among adolescent and young adult cancer survivors. Developing and testing resources to empower adolescent and young adult cancer survivors to ask for parental support and to enable parents to support their child's physical activity is imperative.Implications for RehabilitationMany adolescent and young adult cancer survivors do not participate in enough physical activity to acquire physical and psychosocial benefits.Parental support may represent a key factor that influences physical activity participation.Rehabilitation professionals should consider the influence parents may have on adolescent and young adult cancer survivors' physical well-being post-diagnosis.Promoting co-participation may be a viable strategy to enhance physical activity participation among adolescent and young adult cancer survivors.


Asunto(s)
Supervivientes de Cáncer , Neoplasias , Adolescente , Adulto , Niño , Ejercicio Físico , Femenino , Humanos , Relaciones Interpersonales , Masculino , Padres , Adulto Joven
16.
J Pediatr Hematol Oncol ; 31(9): 647-50, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19644401

RESUMEN

BACKGROUND: Little is known about protein C levels and outcomes of pediatric febrile neutropenia. The primary aim was to evaluate the relationship between markers of activated coagulation including protein C levels and bacteremia in pediatric oncology patients with febrile neutropenia. METHODS: In this prospective cohort study, we collected a blood specimen from pediatric oncology patients who were admitted to a tertiary care hospital between October 2, 2002 and February 3, 2006 with febrile neutropenia. Levels of protein C, soluble thrombomodulin, soluble endothelial protein C receptor, thrombin-antithrombin complex, fibrinogen degradation products and activated protein C were measured. Associations between markers of activated coagulation and bacteremia were examined using univariate logistic regression. RESULTS: Of the 73 evaluable patients, 10 had bacteremia. None of the above measured markers of activated coagulation were associated with bacteremia. More specifically, the median level of protein C in those with bacteremia was 0.64 U/mL (interquartile range: 0.58 to 0.72) in comparison with the median level in those without bacteremia of 0.73 U/mL (interquartile range: 0.61 to 0.92), odds ratio 0.18 (95% confidence interval 0.00 to 8.33); P=0.38. CONCLUSIONS: Protein C levels do not differ between pediatric febrile neutropenic patients with and without bacteremia.


Asunto(s)
Bacteriemia/sangre , Fiebre/etiología , Neoplasias/complicaciones , Neutropenia/complicaciones , Proteína C/análisis , Adolescente , Antibacterianos/uso terapéutico , Antígenos CD/sangre , Antitrombina III , Bacteriemia/tratamiento farmacológico , Bacteriemia/epidemiología , Coagulación Sanguínea , Niño , Preescolar , Estudios de Cohortes , Receptor de Proteína C Endotelial , Femenino , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Humanos , Masculino , Péptido Hidrolasas/sangre , Estudios Prospectivos , Receptores de Superficie Celular/sangre , Trombomodulina/sangre
17.
18.
Pediatr Blood Cancer ; 50(6): 1268-70, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18273873

RESUMEN

A 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple café-au-lait macules. Family history was not suggestive of a dominant hereditary form of colorectal cancer. Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein and high frequency microsatellite instability. Germline analysis identified biallelic PMS2 missense mutations. A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including PMS2, is now emerging and is characterized by café-au-lait macules, colonic polyps and a distinctive tumor spectrum.


Asunto(s)
Adenosina Trifosfatasas/genética , Manchas Café con Leche/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Reparación de la Incompatibilidad de ADN , Enzimas Reparadoras del ADN/genética , Proteínas de Unión al ADN/genética , Mutación de Línea Germinal , Mutación Missense , Adolescente , Alelos , Manchas Café con Leche/complicaciones , Neoplasias Colorrectales Hereditarias sin Poliposis/complicaciones , Humanos , Masculino , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto , Linaje
19.
Cureus ; 10(9): e3324, 2018 Sep 18.
Artículo en Inglés | MEDLINE | ID: mdl-30473957

RESUMEN

We present a case of a healthy male neonate born at term, circumcised on Day 1 of life. Facing ongoing bleeding at the incision site, the baby was transferred to a level III neonatal intensive care unit for further investigation and management. His family history was unremarkable for bleeding disorders. On arrival, the baby was hemodynamically stable with abnormal coagulation values. Further investigations revealed a diagnosis compatible with severe hemophilia A. He deteriorated on Day 2, developing acute severe anemia which required two red blood cell transfusions. This rare but potentially fatal event reminds clinicians to remain extremely vigilant with minor surgical procedures such as circumcision even in the absence of family history.

20.
Pediatr Infect Dis J ; 26(8): 700-4, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17848881

RESUMEN

BACKGROUND: The primary objective of this study was to determine the prevalence of oral herpes simplex virus (HSV) as detected by polymerase chain reaction, in pediatric oncology patients with febrile neutropenia. Our secondary objectives were to describe the association between oral HSV and prolonged fever, neutropenia, mucositis, and response to initial antimicrobial therapy. METHODS: In this prospective cohort study, we obtained a mouth swab and blood specimen from oncology patients with febrile neutropenia, and tested them for HSV by polymerase chain reaction. Prolonged fever was defined as the presence of fever 48 hours after initiation of broad-spectrum antibiotic therapy. RESULTS: Of the 75 oral and blood specimens obtained, only 7 oral swabs (9%) and 2 blood samples (3%) were positive for HSV. Oral HSV was not associated with prolonged fever or neutropenia. However, oral HSV was associated with longer median duration of mucositis (8 days; interquartile range, 0-12 days) compared with negative episodes (0 days; interquartile range, 0-2.5 days); P = 0.005. Oral HSV also was associated with inferior successful response to initial antimicrobial therapy (1 of 7, 14.3%) compared with negative episodes (51 of 67, 76.1%); P = 0.002. CONCLUSIONS: The prevalence of HSV infection in pediatric oncology patients with febrile neutropenia was low and was not associated with prolonged fever. However, oral HSV was associated with prolonged mucositis and poorer response to initial therapy. It is unknown whether early intervention with acyclovir can alter these associations.


Asunto(s)
Herpes Simple/epidemiología , Neoplasias/complicaciones , Neoplasias/tratamiento farmacológico , Neutropenia/etiología , Simplexvirus/aislamiento & purificación , Adolescente , Antiinfecciosos/uso terapéutico , Sangre/virología , Niño , Preescolar , Estudios de Cohortes , ADN Viral/análisis , Femenino , Fiebre/etiología , Herpes Simple/fisiopatología , Humanos , Lactante , Masculino , Boca/virología , Mucositis/virología , Reacción en Cadena de la Polimerasa , Prevalencia , Estudios Prospectivos
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