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2.
Childs Nerv Syst ; 40(2): 295-301, 2024 Feb.
Article in English | MEDLINE | ID: mdl-36943435

ABSTRACT

Toxoplasma gondii is a parasite that is estimated to infect one-third of the world's population. It is acquired by ingesting contaminated water and food specially undercooked meat, contact with domestic or wild feline feces, and during pregnancy by transplacental transmission.Immunocompetent hosts are usually asymptomatic, and infection will be self-limited, while those patients whose immune system is debilitated by HIV infection, immunosuppressive therapy, long-term steroid treatment, and fetuses infected during gestation will show evidence of systemic activity which is more severe in the central nervous system and eyes due to insufficient immune response caused by their respective blood barriers. Congenital toxoplasmosis has an estimated incidence of 8% in mothers who were seronegative at the beginning of their pregnancy. Infection in the first trimester may result in spontaneous abortion or stillbirth; however, it is estimated that the highest risk for vertical transmission is during the second and third trimesters when blood flow and placenta thickness favor parasitic transmission.Congenital toxoplasmosis can be detected with periodic surveillance in endemic areas, and with appropriate treatment, the risk of vertical transmission can be reduced, and the severity of the disease can be reversed in infected fetuses.While most infected newborns will show no evidence of the disease, those who suffer active intrauterine complications will present with cerebral calcifications in 8-12% of cases, hydrocephalus in 4-30%, and chorioretinitis in 12-15%. Also, seizure disorders, spasticity, and varying degrees of neurocognitive deficits can be found in 12%.Four distinct patterns of hydrocephalus have been described: aqueductal stenosis with lateral and third ventricle dilatation, periforaminal calcifications leading to foramen of Monro stenosis with associated asymmetrical ventricle dilatation, a mix of aqueductal and foramen of Monro stenosis, and overt hydrocephalus without clear evidence of obstruction with predominant dilatation of occipital horns (colpocephaly).While all patients diagnosed with congenital toxoplasmosis should undergo pharmacological treatment, those presenting with hydrocephalus have traditionally been managed with CSF shunting; however, there are reports of at least 50% success when selected cases are treated with endoscopic third ventriculostomy. Successful hydrocephalus management with appropriate treatment leads to better intellectual outcomes.


Subject(s)
HIV Infections , Hydrocephalus , Neurosurgery , Third Ventricle , Toxoplasma , Toxoplasmosis, Congenital , Pregnancy , Child , Female , Humans , Infant, Newborn , Cats , Animals , Toxoplasmosis, Congenital/diagnosis , Toxoplasmosis, Congenital/parasitology , Toxoplasmosis, Congenital/surgery , HIV Infections/complications , HIV Infections/surgery , Constriction, Pathologic/surgery , Third Ventricle/surgery , Hydrocephalus/etiology , Hydrocephalus/surgery , Ventriculostomy/adverse effects
4.
Ecancermedicalscience ; 17: 1511, 2023.
Article in English | MEDLINE | ID: mdl-37113723

ABSTRACT

Background: Mammary analogue secretory carcinoma (MASC) is a new disease among tumours affecting the salivary glands. It was first reported in 2010, and few cases have been reported worldwide. MASC is often incorrectly diagnosed as salivary gland acinic cell carcinoma. We present here the case of a patient with an asymptomatic parotid tumour who underwent a parotidectomy of the superficial lobe. Case report: A 78-year-old female patient came to the clinic for a tumour of approximately 2.5 × 2.5 cm and a hard, elastic consistency that had grown insidiously in the right preauricular region. Magnetic resonance imaging of the head and neck showed a heterogeneous ovoid lesion located in the lower part of the superficial lobe of the right parotid gland, measuring 29 × 27 × 27 mm. A superficial parotidectomy was performed with the facial nerve identified and preserved. Immunohistochemistry was positive for S100, mammaglobin, periodic acid Schiff (PAS) and GATA-3. Fluorescence in situ hybridisation analysis was subsequently performed and Translocation-ETS-Leukemia Virus (ETV6) gene rearrangement observed. These findings were consistent with diagnosis of a MASC. The patient then required no new interventions or adjuvant therapy. At publication, she was free of disease and continues in clinical follow-up. Conclusion: MASC is a tumour of the saliva glands that is recently described and rare. There are no studies that describe its biological behaviour or prognosis precisely.

5.
Clin Transl Oncol ; 25(11): 3307-3311, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37097530

ABSTRACT

BACKGROUND: Infantile fibrosarcoma is the most frequent soft tissue sarcoma in newborns or children under one year of age. This tumour often implies high local aggressiveness and surgical morbidity. The large majority of these patients carry the ETV6-NTRK3 oncogenic fusion. Hence, the TRK inhibitor larotrectinib emerged as an efficacious and safe alternative to chemotherapy for NTRK fusion-positive and metastatic or unresectable tumours. However, real-world evidence is still required for updating soft-tissue sarcoma practice guidelines. OBJECTIVE: To report our experience with the use of larotrectinib in pediatric patients. METHODS: Our case series shows the clinical evolution of 8 patients with infantile fibrosarcoma under different treatments. All patients enrolled in this study received informed consent for any treatment. RESULTS: Three patients received larotrectinib in first line. No surgery was needed with larotrectinib, which led to the rapid and safe remission of tumours, even in unusual anatomical locations. No significant adverse effects were observed with larotrectinib. CONCLUSION: Our case series supports that larotrectinib may be a therapeutic option for newborn and infant patients with infantile fibrosarcoma, especially in uncommon locations.


Subject(s)
Fibrosarcoma , Sarcoma , Soft Tissue Neoplasms , Infant , Humans , Child , Infant, Newborn , Fibrosarcoma/drug therapy , Fibrosarcoma/genetics , Fibrosarcoma/pathology , Sarcoma/drug therapy , Soft Tissue Neoplasms/drug therapy , Soft Tissue Neoplasms/genetics , Soft Tissue Neoplasms/pathology , Protein Kinase Inhibitors/therapeutic use
6.
Cancer Rep (Hoboken) ; 5(5): e1587, 2022 05.
Article in English | MEDLINE | ID: mdl-34787376

ABSTRACT

BACKGROUND: Philadelphia-like (Ph-like) acute lymphoblastic leukemia (ALL) is a subtype of pediatric leukemia with high risk factors and poor outcome. There are few reports of its prevalence in Latin America. AIM: This study evaluated the frequency and clinical and biological characteristics of Ph-like ALL in a pediatric cancer center in Colombia. METHODS: The Ph-like genetic profile was analyzed by a low-density array (LDA). Samples from patients with Ph-like ALL were analyzed by fluorescent in situ hybridization for cytokine receptor like factor 2 (CRLF2) and ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1) rearrangements. Copy number variations were assessed by multiplex ligation probe amplification. RESULTS: Data from 121 patients were analyzed. Fifteen patients (12.4%) had Ph-like ALL, and these patients had significantly higher leukocyte counts at diagnosis and higher levels of minimal residual disease on days 15 and 33 of induction than patients without the Ph-like subtype. There were no significant differences in sex, age, or response to prednisone at day 8 between the two groups. CRLF2 rearrangements were identified in eight patients, and ABL1 rearrangements were identified in two patients. Other genetic alterations alone or in combination were identified in 77% of patients, including deletions in cyclin dependent kinase inhibitor 2 A/B (46.2%), IKAROS family zinc finger 1 (38.3%), and paired box 5 (30.8%). CONCLUSIONS: Ph-like ALL had a 12.4% prevalence in our cohort of patients with pediatric ALL. The identification of this group of patients has importance for risk stratification and future targeted therapy.


Subject(s)
Ikaros Transcription Factor , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Child , Colombia/epidemiology , DNA Copy Number Variations , Humans , Ikaros Transcription Factor/genetics , In Situ Hybridization, Fluorescence , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology , Referral and Consultation
7.
BMC Cancer ; 21(1): 207, 2021 Mar 01.
Article in English | MEDLINE | ID: mdl-33648461

ABSTRACT

BACKGROUND: Colorectal cancer (CRC) is one of the most common cancers worldwide; it is the fourth leading cause of death in the world and the third in Brazil. Mutations in the APC, DCC, KRAS and TP53 genes have been associated with the progression of sporadic CRC, occurring at defined pathological stages of the tumor progression and consequently modulating several genes in the corresponding signaling pathways. Therefore, the identification of gene signatures that occur at each stage during the CRC progression is critical and can present an impact on the diagnosis and prognosis of the patient. In this study, our main goal was to determine these signatures, by evaluating the gene expression of paired colorectal adenoma and adenocarcinoma samples to identify novel genetic markers in association to the adenoma-adenocarcinoma stage transition. METHODS: Ten paired adenoma and adenocarcinoma colorectal samples were subjected to microarray gene expression analysis. In addition, mutations in APC, KRAS and TP53 genes were investigated by DNA sequencing in paired samples of adenoma, adenocarcinoma, normal tissue, and peripheral blood from ten patients. RESULTS: Gene expression analysis revealed a signature of 689 differentially expressed genes (DEG) (fold-change> 2, p< 0.05), between the adenoma and adenocarcinoma paired samples analyzed. Gene pathway analysis using the 689 DEG identified important cancer pathways such as remodeling of the extracellular matrix and epithelial-mesenchymal transition. Among these DEG, the ETV4 stood out as one of the most expressed in the adenocarcinoma samples, further confirmed in the adenocarcinoma set of samples from the TCGA database. Subsequent in vitro siRNA assays against ETV4 resulted in the decrease of cell proliferation, colony formation and cell migration in the HT29 and SW480 colorectal cell lines. DNA sequencing analysis revealed KRAS and TP53 gene pathogenic mutations, exclusively in the adenocarcinomas samples. CONCLUSION: Our study identified a set of genes with high potential to be used as biomarkers in CRC, with a special emphasis on the ETV4 gene, which demonstrated involvement in proliferation and migration.


Subject(s)
Adenocarcinoma/genetics , Adenoma/genetics , Colorectal Neoplasms/genetics , Genes, Neoplasm , Neoplasm Proteins/physiology , Proto-Oncogene Proteins c-ets/physiology , Adenocarcinoma/chemistry , Adenocarcinoma/pathology , Adenoma/chemistry , Adenoma/pathology , Aged , Biomarkers, Tumor/genetics , Brazil , Cell Division/genetics , Cell Line, Tumor , Cell Movement/genetics , Cell Transformation, Neoplastic/genetics , Colorectal Neoplasms/chemistry , Colorectal Neoplasms/pathology , DNA, Neoplasm/genetics , Disease Progression , Female , Gene Expression Regulation, Neoplastic , Gene Ontology , Humans , Male , Middle Aged , Neoplasm Proteins/antagonists & inhibitors , Neoplasm Proteins/genetics , Proto-Oncogene Proteins c-ets/antagonists & inhibitors , Proto-Oncogene Proteins c-ets/genetics , RNA Interference , RNA, Small Interfering/genetics , RNA, Small Interfering/pharmacology , Tissue Array Analysis , Transcriptome , Tumor Stem Cell Assay
8.
Oral Oncol ; 117: 105198, 2021 06.
Article in English | MEDLINE | ID: mdl-33573874

ABSTRACT

OBJECTIVES: This study aim was to review cases of acinic cell carcinoma (the main differential diagnosis of secretory carcinoma) that were diagnosed and treated at the National Cancer Institute of Brazil (INCA) between 1996 and 2016. The primary objective was to identify underdiagnosed cases of secretory carcinoma via a clinical, immunopathological and molecular reassessment. MATERIALS AND METHODS: This is a cross sectional study, with retrospective data collection from medical records and histological specimen review, with staining for periodic acid-Schiff (PAS) and PAS with diastase, immunohistochemistry for S-100, mammaglobin, and DOG-1, and droplet digital RT-PCR for ETV6-NTRK3. The Research Ethics Committee approved this study, and the patients allowed their participation through informed consent. RESULTS: Eighty-three cases of acinic cell carcinoma were diagnosed and treated in the specified period at INCA, of which, seven had their diagnosis changed to secretory carcinoma. CONCLUSION: The present study adds seven cases of secretory carcinoma to the literature, contributing to a better understanding of the epidemiological, histological, immunohistochemical and molecular characteristics of this recently described tumor. Also, the use of a comprehensive diagnostic approach, including immunohistochemical and molecular methods, along with classical morphological studies, allowed the reclassification of acinic cell carcinoma to secretory carcinoma.


Subject(s)
Carcinoma, Acinar Cell , Salivary Gland Neoplasms , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Carcinoma, Acinar Cell/metabolism , Carcinoma, Acinar Cell/pathology , Cross-Sectional Studies , Humans , National Cancer Institute (U.S.) , Retrospective Studies , Salivary Gland Neoplasms/metabolism , Salivary Gland Neoplasms/pathology , United States
9.
Neurosurg Rev ; 44(6): 3375-3385, 2021 Dec.
Article in English | MEDLINE | ID: mdl-33624133

ABSTRACT

Endoscopic third ventriculostomy (ETV) is a hydrocephalus treatment procedure that involves opening the Liliequist membrane (LM). However, LM anatomy has not been well-studied neuroendoscopically, because approach angles differ between descriptive and microsurgical anatomical explorations. Discrepancies in ETV efficacy, especially among children age 2 and younger, may be due to incomplete LM opening. The objective of this study was to characterize the LM anatomically from a neuroendoscopic perspective to better understand the impact of anatomical features during LM ostomy and the ETV success rate. Additionally, the ETV success score was tested to predict patient outcome after the intraoperatively difficult opening of LM. Fifty-four patients who underwent ETV were prospectively analyzed with a mean follow-up of 53.1 months (1-90 months). The ETV technical parameters of difficulty were validated by seven expert neurosurgeons. The pediatric population (44) of this study represents the majority of patients (81.4%). The overall ETV success rate was 68.5%. Anomalies on the IIIVT floor resulted in an increased rate of ETV failure. The IIIVT was anomalous, and LM was thick in 33.3% of cases. Fenestration of LM was difficult in 39% of cases, and the LM and TC were opened separately in 55.6% of cases. The endoscopic third ventriculostomy success score (ETVSS) accurately predicted the level of difficulty opening the LM (p = 0.012), and the group with easy opening presented greater durability in ETV success. Neurosurgeons should be aware of the difficulty level of the overture of LM during ETV and its impact on long-term ETV effectiveness.


Subject(s)
Hydrocephalus , Neuroendoscopy , Third Ventricle , Child , Child, Preschool , Humans , Hydrocephalus/surgery , Infant , Retrospective Studies , Third Ventricle/surgery , Treatment Outcome , Ventriculostomy
10.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1124201

ABSTRACT

La Leucemia Linfoblástica Aguda (LLA) es la neoplasia más frecuente en edad pediátrica. En los últimos años, entre el 15 y 20% de los pacientes fracasan en el tratamiento. Conocimientos en citogenética y biología molecular repercuten de manera importante en la determinación del pronóstico y del esquema de tratamiento adecuado. En Venezuela existe un conocimiento limitado en cuanto a la genética molecular de esta alteración onco-hematológica. El objetivo del trabajo fue evaluar las alteraciones genéticas más frecuentes en pacientes venezolanos con diagnóstico clínico de leucemia linfoblástica aguda. Se realizó un estudio transversal, descriptivo y prospectivo de 2006 a 2014, en el que se evaluaron las translocaciones ETV6/RUNX1, MLL/AF4, TCF3/PBX1, BCR/ABL1, así como las mutaciones en los genes PAX5 y FLT3 mediante el uso de diferentes tipos de PCR. Ciento treinta pacientes con diagnóstico clínico de leucemia linfocítica aguda fueron incluidos en el estudio. Se identificaron alteraciones moleculares en 56 pacientes (43,1%), en los que observamos la presencia de una o varias alteraciones en conjunción en un mismo paciente. Las alteraciones identificadas fueron t(12;21) (11,5%), t(4;11) (8,5%), t(1;19) (10%), t(9;22) (20,8%), ITD-FLT3 (14,8%), mutación P80S (4,2%) y S77del (4,2%) en el gen PAX5. La prevalencia de BCR/ ABL, es una de las más altas que ha sido descrita hasta ahora en casos de LLA donde la mayor parte de la población está conformada por pacientes pediátricos. Estos resultados representan el primer estudio molecular de la LLA en Venezuela, sentando las bases para el diagnóstico y seguimiento de la enfermedad en su población.


Acute Lymphoblastic Leukemia (ALL) is the most common neoplasm in pediatric age. In recent years, between 15 and 20% of patients failed in their treatments. Knowledge on cytogenetics and molecular biology has an important impact on the determination of the prognosis and the appropriate treatment scheme. In Venezuela there is limited knowledge regarding the molecular genetics of this onco-hematological alteration. The aim of this work was to evaluate the most frequent genetic alterations in Venezuelan patients with a clinical diagnosis of acute lymphoblastic leukemia. A cross-sectional, descriptive and prospective study was carried out from 2006 to 2014, in which the translocations ETV6/RUNX1, MLL/AF4, TCF3/PBX1, BCR/ABL1, as well as mutations in the PAX5 and FLT3 genes were evaluated through the use of different types of PCR. One hundred and thirty patients with a clinical diagnosis of acute lymphocytic leukemia were included in the study. Molecular alterations were identified in 56 patients (43.1%), in which we observed the presence of one or several alterations in conjunction in the same patient. The alterations identified were t(12; 21) (11.5%), t(4; 11) (8.5%), t(1; 19) (10%), t(9; 22) (20.8%), ITD-FLT3 (14.8%), P80S mutation (4.2%) and S77del (4.2%) in the PAX5 gene. The prevalence of BCR/ABL is one of the highest described so far in cases of ALL where most of the population is made up of pediatric patients. These results represent the first molecular study of ALL in Venezuela, laying the foundations for the diagnosis and monitoring of the disease in its population.

11.
J Neurosurg Pediatr ; : 1-6, 2020 Jan 10.
Article in English | MEDLINE | ID: mdl-31923887

ABSTRACT

OBJECTIVE: Untreated hydrocephalus poses a significant health risk to children in the developing world. In response to this risk, global neurosurgical efforts have increasingly focused on endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) in the management of infantile hydrocephalus in low- and middle-income countries (LMICs). Here, the authors report their experience with ETV/CPC at the Hospital Bernard-Mevs/Project Medishare (HBMPM) in Port-au-Prince, Haiti. METHODS: The authors conducted a retrospective review of a series of consecutive children who had undergone ETV/CPC for hydrocephalus over a 1-year period at HBMPM. The primary outcome of interest was time to ETV/CPC failure. Univariate and multivariate analyses using a Cox proportional hazards regression were performed to identify preoperative factors that were associated with outcomes. RESULTS: Of the 82 children who underwent ETV/CPC, 52.2% remained shunt free at the last follow-up (mean 6.4 months). On univariate analysis, the ETV success score (ETVSS; p = 0.002), success of the attempted ETV (p = 0.018), and bilateral CPC (p = 0.045) were associated with shunt freedom. In the multivariate models, a lower ETVSS was independently associated with a poor outcome (HR 0.072, 95% CI 0.016-0.32, p < 0.001). Two children (2.4%) died of postoperative seizures. CONCLUSIONS: As in other LMICs, ETV/CPC is an effective treatment for hydrocephalus in children in Haiti, with a low but significant risk profile. Larger multinational prospective databases may further elucidate the ideal candidate for ETV/CPC in resource-poor settings.

12.
Hematol., Transfus. Cell Ther. (Impr.) ; 41(3): 205-211, July-Sept. 2019. tab, graf, ilus
Article in English | LILACS | ID: biblio-1039933

ABSTRACT

ABSTRACT Introduction: The ETV6-RUNX1 is a fusion gene associated with a good outcome in B-cell precursor lymphoblastic leukemia. Objective: This study aimed to re-evaluate the CD9 cellular expression by flow cytometry (FC) as a possible tool to predict the presence of ETV6-RUNX1. Method: Childhood B-cell precursor lymphoblastic leukemia cases were included (n = 186). The percentage of CD9-labeled cells and the median fluorescence intensity ratio were used for correlation with the molecular tests. Receiver Operating Characteristic curves were performed to determine the likelihood of the CD9 expression predicting ETV6-RUNX1. Results: The ETV6-RUNX1 was found in 44/186 (23.6%) cases. Data analysis revealed that the best cutoff for CD9 percentage was 64%, with an accuracy of 0.84, whereas the best cutoff for CD9 median fluorescence intensity ratio was 12.52, with an accuracy of 0.80. A strong association was observed between the level of CD9 expression and the presence of ETV6-RUNX1. Conclusion: These data confirm that the CD9 expression could be used for risk stratification in clinical practice.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Biomarkers, Tumor , Gene Fusion , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Tetraspanin 29 , Flow Cytometry , Forecasting
13.
Bogotá; Instituto Nacional de Salud;Dirección de Vigilancia y Análisis del Riesgo en Salud Pública; 20190000. 1-29 p. ilus, tab, graf.
Non-conventional in Spanish | COLNAL | ID: biblio-1048359

ABSTRACT

El Sistema de Vigilancia en Salud Pública en Colombia ha confirmado 248 casos de chagas agudo entre el 2012 y el periodo epidemiológico VI de 2019, (Mapa 1); el 40,3 % de estos casos ocurrieron en brotes de transmisión oral. Desde 2008 hasta 2019 se han registrado 21 brotes de transmisión oral en los departamentos: Santander, Casanare, Cesar, Meta, Bolívar, Antioquia y últimamente en nuevos escenarios como Chocó y Atlántico.


The Public Health Surveillance System in Colombia has confirmed 248 cases of acute chagas between 2012 and the epidemiological period VI of 2019, (Map 1); 40.3% of these cases occurred in orally transmitted outbreaks. From 2008 to 2019 there have been 21 outbreaks of oral transmission in the departments: Santander, Casanare, Cesar, Meta, Bolívar, Antioquia and lately in new scenarios such as Chocó and Atlántico.


Subject(s)
Chagas Disease , Trypanosoma
14.
J Neurosurg Pediatr ; : 1-9, 2019 Jul 05.
Article in English | MEDLINE | ID: mdl-31277055

ABSTRACT

OBJECTIVE: Previous models have been utilized in other low- and middle-income countries (LMICs) to explore and assess the cost, sustainability, and effectiveness of infant hydrocephalus treatment. However, similar models have not been implemented in Haiti due to a paucity of data, epidemiology, and outcomes for hydrocephalus. Therefore, the authors utilized previously described economic modeling to estimate the annual cost and benefit of treating hydrocephalus in infants at a neurosurgery referral center, Hospital Bernard Mevs (HBM), in Port-au-Prince, Haiti. METHODS: The authors conducted a retrospective review of data obtained in all children treated for hydrocephalus at the HBM from 2008 to 2015. The raw data were pooled with previously described surgical outcomes for hydrocephalus in other LMICs. Modeling was performed to determine outcomes, neurosurgical costs, disability-adjusted life years (DALYs), and economic benefits of Haitian hydrocephalus treatment during this time frame. Standard account methodology was employed to calculate cost per procedure. Using these formulas, the net economic benefit and cost/DALY were determined for hydrocephalus treatment at HBM from 2008 to 2015. RESULTS: Of the 401 patients treated during the study period, 158 (39.4%) met criteria for postinfectious hydrocephalus, 54 (13.5%) had congenital hydrocephalus, 38 (9.5%) had myelomeningocele, 19 (4.7%) had aqueductal stenosis, and 132 (33%) were not placed into a category. Overall, 317 individuals underwent surgical treatment of their hydrocephalus, averting 3077 DALYs. The total cost of the procedures was $754,000, and the cost per DALY ranged between $86 and $245. The resulting net economic benefit for neurosurgical intervention ranged from $2.5 to $5.5 million. CONCLUSIONS: This work demonstrates the substantial economic benefit of neurosurgical intervention for the treatment of pediatric hydrocephalus at a single hospital in Haiti. Based on DALYs averted, the need for additional centers offering basic neurosurgical services is apparent. A single center offering these services for several days each month was able to generate between $2.5 to $5.5 million in economic benefits, suggesting the need to develop neurosurgical capacity building in Haiti. Ultimately, prevention, screening, and early surgical treatment of these infants represent a public health and socioeconomic requisite for Haiti.

15.
Hematol Transfus Cell Ther ; 41(3): 205-211, 2019.
Article in English | MEDLINE | ID: mdl-31085145

ABSTRACT

INTRODUCTION: The ETV6-RUNX1 is a fusion gene associated with a good outcome in B-cell precursor lymphoblastic leukemia. OBJECTIVE: This study aimed to re-evaluate the CD9 cellular expression by flow cytometry (FC) as a possible tool to predict the presence of ETV6-RUNX1. METHOD: Childhood B-cell precursor lymphoblastic leukemia cases were included (n=186). The percentage of CD9-labeled cells and the median fluorescence intensity ratio were used for correlation with the molecular tests. Receiver Operating Characteristic curves were performed to determine the likelihood of the CD9 expression predicting ETV6-RUNX1. RESULTS: The ETV6-RUNX1 was found in 44/186 (23.6%) cases. Data analysis revealed that the best cutoff for CD9 percentage was 64%, with an accuracy of 0.84, whereas the best cutoff for CD9 median fluorescence intensity ratio was 12.52, with an accuracy of 0.80. A strong association was observed between the level of CD9 expression and the presence of ETV6-RUNX1. CONCLUSION: These data confirm that the CD9 expression could be used for risk stratification in clinical practice.

16.
J Neurosurg Pediatr ; : 1-9, 2019 Feb 22.
Article in English | MEDLINE | ID: mdl-30797213

ABSTRACT

OBJECTIVEHydrocephalus is recognized as a common disabling pediatric disease afflicting infants and children disproportionately in the developing world, where access to neurosurgical care is limited and risk of perinatal infection is high. This surgical case series describes the Project Medishare Hydrocephalus Specialty Surgery (PMHSS) program experience treating hydrocephalus in Haiti between 2008 and 2015.METHODSThe authors conducted a retrospective review of all cases involving children treated for hydrocephalus within the PMHSS program in Port-au-Prince, Haiti, from 2008 through 2015. All relevant epidemiological information of children treated were prospectively collected including relevant demographics, birth history, hydrocephalus etiology, head circumference, and operative notes. All appropriate associations and statistical tests were performed using univariate and multivariate logistic regression analyses.RESULTSAmong the 401 children treated within PMHSS, postinfectious hydrocephalus (PIH) accounted for 39.4% (n = 158) of cases based on clinical, radiographic, and endoscopic findings. The majority of children with hydrocephalus in Haiti were male (54.8%, n = 197), born in the rainy season (59.7%, n = 233), and born in a coastal/inland location (43.3%, n = 61). The most common surgical intervention was endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) (45.7%, n = 175). Multivariate logistic regression analysis yielded coastal birth location (OR 3.76, 95% CI 1.16-12.18) as a statistically significant predictor of PIH. Increasing head circumference (adjusted OR 1.06, 95% CI 0.99-1.13) demonstrated a slight trend toward significance with the incidence of PIH.CONCLUSIONSThis information will provide the foundation for future clinical and public health studies to better understand hydrocephalus in Haiti. The 39.4% prevalence of PIH falls within observed rates in Africa as does the apparently higher prevalence for those born during the rainy season. Although PIH was the most frequent etiology seen in almost all birth locations, the potential relationship with geography noted in this series will be the focus of further research in an effort to understand the link between climate and PIH in Haiti. The ultimate goal will be to develop an appropriate public health strategy to reduce the burden of PIH on the children of Haiti.

17.
Salud pública Méx ; 60(1): 86-96, Jan.-Feb. 2018. tab, graf
Article in English | LILACS | ID: biblio-903847

ABSTRACT

Abstract: Objective: To design and analyze the efficacy of an Ecohealth competency-based course on the prevention and control of vector-borne-diseases for specific stakeholders. Materials and methods: Multiple stakeholders and sectors of the region were consulted to identify Ecohealth group-specific competencies using an adjusted analysis matrix. Eight courses based on the competencies were implemented to train EA tutors. The effectiveness of the course was evaluated through the use of paired- t-tests by intervention group. Results: Strategic, tactical, academia and community stakeholder groups and their competencies were identified. An overall gain of 43 percentage points (p<0.001) was observed in terms of competencies score in trained tutors, which further trained 1 033 people. Conclusion: The identification of the stakeholders and their competencies proved to be useful to guide training courses to significantly improve the initial competencies and create a critical mass to further advance the EA in the region.


Resumen: Objetivo: Diseñar y analizar la eficacia de un curso basado en competencias de Eco-Salud para la prevención y control de enfermedades transmitidas por vectores, para actores específicos. Material y métodos: Se consultaron múltiples actores y sectores de la región para identificar las competencias específicas del enfoque de Ecosalud, que deberían de tener los grupos clave utilizando un análisis de matriz ajustado. Se implementaron cursos de capacitación utilizando las competencias para capacitar a tutores en el enfoque. La efectividad del curso se evaluó mediante el uso de pruebas t pareadas por grupo de intervención. Resultados: Se identificaron los grupos clave para la prevención y control de las ETVs: estratégico, táctico, académico y comunitario, así como sus competencias. Se capacitaron tutores y se obtuvo un incremento en relación con las competencias iniciales de 43 puntos porcentuales (p <0.001). Conclusión: La identificación de los grupos clave y sus competencias demostró ser útil en el diseño de un curso para incrementar el nivel inicial de competencias y crear una masa crítica para Ecosalud en la región.


Subject(s)
Humans , Animals , Infection Control/methods , Chagas Disease/prevention & control , Dengue/prevention & control , Ecology/education , Infectious Disease Medicine/education , Malaria/prevention & control , Program Evaluation , Chagas Disease/transmission , Chagas Disease/epidemiology , Curriculum , Teacher Training , Stakeholder Participation , Insect Vectors , Latin America/epidemiology
18.
Salud UNINORTE ; 33(2): 224-241, mayo-ago. 2017. tab, graf
Article in Spanish | LILACS | ID: biblio-903644

ABSTRACT

Resumen Este trabajo tiene como objetivo recoger la evidencia científica sobre los efectos del cambio climático sobre la salud humana con énfasis en Colombia. Se llevó a cabo una revisión en bases de datos y repositorios de revistas por medio de un algoritmo de términos MeSH. Fueron incluidos artículos originales, revisiones sistemáticas o metaanálisis que estuvieran disponibles en texto completo o disponible en las bases de datos y repositorios consultados. Se usaron restrictores de idioma, tiempo e idioma. Fueron elegidos 268 títulos en las bases de datos, repositorios de revistas y trabajos de literatura gris: 29 % correspondió a trabajos sobre seguridad alimentaria, 25 % a publicaciones sobre enfermedades transmisibles, 35 % a efectos sobre la calidad del aire y enfermedades respiratorias y 11 % a publicaciones que abordaban varios temas. Solo fueron encontradas 17 publicaciones sobre trabajos colombianos. La evidencia científica revisada permite afirmar que el cambio climático tiene una afectación transversal a la población mundial a distintos niveles y escenarios. El cambio climático afecta la salud humana de forma directa e indirecta. Por otro lado, es importante resaltar que las publicaciones que dan cuenta de los efectos del cambio climático en Colombia se centran en las enfermedades transmitidas por vectores.


Abstract This paper aims to collect the scientific evidence on the effects of climate change on human health with emphasis in Colombia. A review was performed on databases and journal repositories using a MeSH algorithm. Included were original articles, systematic reviews or meta-analyses, which were available in full text or available in databases and repositories consulted. Language, time and language constraints were used. 268 titles were selected from the databases, journal repository and websites. 29 % corresponded to work on food safety, 25 % to publications on communicable diseases, 35 % effects on air quality and respiratory diseases and 11 % about multiple issues. Only 17 papers came from Colombian researches. The revised scientific evidence to suggest that climate change has a cross to the world population affected at different levels and stages. Climate change affects human health directly and indirectly. Furthermore, it is important to highlight the discrete number of publications found to document the effects of climate change in Colombia.

20.
Thyroid ; 27(2): 182-188, 2017 02.
Article in English | MEDLINE | ID: mdl-27849443

ABSTRACT

BACKGROUND: Previous studies reported significant differences in the clinical presentation and outcomes of papillary thyroid carcinoma (PTC) in pediatric patients compared with adults. Previous studies have suggested that the clinicopathological differences observed between pediatric and adult PTCs may be due the existence of distinct genetic alterations. However, the knowledge of genetic events in pediatric PTCs is based primarily on studies in radiation-exposed PTCs or in the few studies that enrolled predominantly adolescent patients. The aim of this study was to characterize the known oncogenic alterations of the MAPK pathway found in adult and radiation-exposed PTCs in a cohort of predominantly sporadic pediatric PTC patients. METHODS: Thirty-five pediatric PTCs were screened for the most prevalent fusions (RET/PTC1, RET/PTC2, RET/PTC3, ETV6-NTRK3, and AGK-BRAF) and point mutations (BRAFV600E and NRASQ61) described in sporadic pediatric PTCs. The mutational status was correlated with clinicopathological data. RESULTS: Mutations were found in 20 out of 35 (57%) PTC cases. Fusion oncogenes were the main genetic alterations found. RET/PTC1-3 rearrangements were found in 13 (37%), ETV6-NTRK3 in 3 (9%), AGK-BRAF in 4 (11%), and BRAFV600E in 3 (9%). No mutation was found in NRASQ61. BRAFV600E was associated with older age and larger tumor size (p < 0.05), and RET/PTC3 was associated with a larger tumor size and multifocality (p < 0.05). CONCLUSIONS: The genetic signature in this cohort was remarkably different than that observed in adults. Although observed at a lower prevalence, the spectrum of mutations was quite similar to that described in radiation-exposed pediatric PTCs. As mutations were unidentifiable in over 40% of the PTC cases, more comprehensive studies conducted in these patients will help to decipher the genetic landscape of sporadic pediatric PTCs.


Subject(s)
Carcinoma, Papillary/genetics , Oncogene Fusion/genetics , Thyroid Neoplasms/genetics , Adolescent , Child , Child, Preschool , Cohort Studies , Female , GTP Phosphohydrolases/genetics , Humans , Male , Membrane Proteins/genetics , Nuclear Receptor Coactivators/genetics , Patched-1 Receptor/genetics , Patched-2 Receptor/genetics , Phosphotransferases (Alcohol Group Acceptor)/genetics , Point Mutation , Proto-Oncogene Proteins B-raf/genetics , Proto-Oncogene Proteins c-ets/genetics , Proto-Oncogene Proteins c-ret/genetics , Receptor, trkC/genetics , Repressor Proteins/genetics , Thyroid Cancer, Papillary , ETS Translocation Variant 6 Protein
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