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1.
Cancer Control ; 29: 10732748221114691, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35833604

RESUMO

BACKGROUND: In September 2017, hurricanes Irma and Maria affected Puerto Rico (PR) and the US Virgin Islands (USVI), causing major disruptions in basic services and health care. This study documented the stressors and experiences of patients with gynecologic cancer receiving oncology care in PR following these hurricanes. METHODS: We conducted 4 focus groups (December 2018-April 2019) among women aged ≥21 years from PR who were diagnosed with gynecological cancer between September 2016 and September 2018 (n = 24). Using the same eligibility criteria, we also interviewed patients from the USVI (n = 2) who were treated in PR. We also conducted key-informant interviews with oncology care providers and administrators (n = 23) serving gynecologic cancer patients in PR. Discussions were audio-recorded, transcribed verbatim, and coded to identify emergent themes using a constant comparison method. RESULTS: Analyses of focus group discussions and interviews allowed us to identify the following emergent themes: 1) disruptions in oncology care were common; 2) communication between oncology providers and patients was challenging before and after the hurricanes hit; 3) patient resilience was key to resume care; and 4) local communities provided much-needed social support and resources. CONCLUSIONS: This study provides firsthand information about the disruptions in oncology care experienced by and the resiliency of women with gynecologic cancer following hurricanes Irma and Maria. Our findings underscore the need to incorporate oncology care in the preparedness and response plans of communities, health systems, and government agencies to maintain adequate care for cancer patients during and after disasters such as hurricanes.


Assuntos
Tempestades Ciclônicas , Neoplasias , Atenção à Saúde , Feminino , Humanos , Porto Rico
2.
J Low Genit Tract Dis ; 25(2): 98-105, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33660677

RESUMO

OBJECTIVE: Anal cancer screening has been recommended for women with lower genital tract neoplasia, lupus, Crohn disease, HIV, and/or organ transplantation recipients. This study described and compared knowledge, attitudes, and experiences related to anal cancer and anal cancer screening between women at high risk for anal cancer and their counterparts. METHODS: This is a cross-sectional study within colposcopy and gynecology oncology clinics in Puerto Rico; 278 women 21 years or older and with prior diagnosis of gynecological neoplasia completed an interviewer-administered questionnaire. Women were categorized according to their medical history as being high risk or non-high risk for anal cancer. The high-risk group included women with a history of lower genital tract neoplasia, lupus, Crohn disease, HIV, and/or organ transplantation. RESULTS: Overall, 40.7% of the study population were at high risk for developing anal cancer. History of anal cancer screening was low among high-risk and non-high-risk women (11.5% vs 5.6%, p > .05). Less than 1% of all women reported to have had a high-resolution anoscopy. Most women (87.6%) had little knowledge about anal Pap test but were willing to have one if their doctors recommended it (96.5%). No major differences in knowledge, attitudes, or screening history were observed between high-risk and non-high-risk women. CONCLUSIONS: Although experts do not recommend routine anal cancer screening for the general population, they do recommend it for women within certain high-risk groups. Study findings highlight the importance of increasing education and awareness of anal cancer among high-risk patients and physicians, to promote better preventive methods, achieve early detection, and improve disease outcomes.


Assuntos
Neoplasias do Ânus/psicologia , Detecção Precoce de Câncer/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Teste de Papanicolaou/psicologia , Adulto , Idoso , Neoplasias do Ânus/diagnóstico , Estudos Transversais , Detecção Precoce de Câncer/métodos , Feminino , Humanos , Entrevistas como Assunto , Pessoa de Meia-Idade , Teste de Papanicolaou/estatística & dados numéricos , Porto Rico , Fatores de Risco , Adulto Jovem
3.
PLoS Med ; 13(12): e1002206, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28027320

RESUMO

BACKGROUND: Endometrial cancer is the most common gynecologic malignancy, and its incidence and associated mortality are increasing. Despite the immediate need to detect these cancers at an earlier stage, there is no effective screening methodology or protocol for endometrial cancer. The comprehensive, genomics-based analysis of endometrial cancer by The Cancer Genome Atlas (TCGA) revealed many of the molecular defects that define this cancer. Based on these cancer genome results, and in a prospective study, we hypothesized that the use of ultra-deep, targeted gene sequencing could detect somatic mutations in uterine lavage fluid obtained from women undergoing hysteroscopy as a means of molecular screening and diagnosis. METHODS AND FINDINGS: Uterine lavage and paired blood samples were collected and analyzed from 107 consecutive patients who were undergoing hysteroscopy and curettage for diagnostic evaluation from this single-institution study. The lavage fluid was separated into cellular and acellular fractions by centrifugation. Cellular and cell-free DNA (cfDNA) were isolated from each lavage. Two targeted next-generation sequencing (NGS) gene panels, one composed of 56 genes and the other of 12 genes, were used for ultra-deep sequencing. To rule out potential NGS-based errors, orthogonal mutation validation was performed using digital PCR and Sanger sequencing. Seven patients were diagnosed with endometrial cancer based on classic histopathologic analysis. Six of these patients had stage IA cancer, and one of these cancers was only detectable as a microscopic focus within a polyp. All seven patients were found to have significant cancer-associated gene mutations in both cell pellet and cfDNA fractions. In the four patients in whom adequate tumor sample was available, all tumor mutations above a specific allele fraction were present in the uterine lavage DNA samples. Mutations originally only detected in lavage fluid fractions were later confirmed to be present in tumor but at allele fractions significantly less than 1%. Of the remaining 95 patients diagnosed with benign or non-cancer pathology, 44 had no significant cancer mutations detected. Intriguingly, 51 patients without histopathologic evidence of cancer had relatively high allele fraction (1.0%-30.4%), cancer-associated mutations. Participants with detected driver and potential driver mutations were significantly older (mean age mutated = 57.96, 95% confidence interval [CI]: 3.30-∞, mean age no mutations = 50.35; p-value = 0.002; Benjamini-Hochberg [BH] adjusted p-value = 0.015) and more likely to be post-menopausal (p-value = 0.004; BH-adjusted p-value = 0.015) than those without these mutations. No associations were detected between mutation status and race/ethnicity, body mass index, diabetes, parity, and smoking status. Long-term follow-up was not presently available in this prospective study for those women without histopathologic evidence of cancer. CONCLUSIONS: Using ultra-deep NGS, we identified somatic mutations in DNA extracted both from cell pellets and a never previously reported cfDNA fraction from the uterine lavage. Using our targeted sequencing approach, endometrial driver mutations were identified in all seven women who received a cancer diagnosis based on classic histopathology of tissue curettage obtained at the time of hysteroscopy. In addition, relatively high allele fraction driver mutations were identified in the lavage fluid of approximately half of the women without a cancer diagnosis. Increasing age and post-menopausal status were associated with the presence of these cancer-associated mutations, suggesting the prevalent existence of a premalignant landscape in women without clinical evidence of cancer. Given that a uterine lavage can be easily and quickly performed even outside of the operating room and in a physician's office-based setting, our findings suggest the future possibility of this approach for screening women for the earliest stages of endometrial cancer. However, our findings suggest that further insight into development of cancer or its interruption are needed before translation to the clinic.


Assuntos
DNA de Neoplasias , Neoplasias do Endométrio/genética , Genoma , Mutação , Útero/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Neoplasias do Endométrio/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Irrigação Terapêutica
4.
Am J Hum Genet ; 93(6): 1061-71, 2013 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-24268657

RESUMO

Obesity is a major public health concern, and complementary research strategies have been directed toward the identification of the underlying causative gene mutations that affect the normal pathways and networks that regulate energy balance. Here, we describe an autosomal-recessive morbid-obesity syndrome and identify the disease-causing gene defect. The average body mass index of affected family members was 48.7 (range = 36.7-61.0), and all had features of the metabolic syndrome. Homozygosity mapping localized the disease locus to a region in 3q29; we designated this region the morbid obesity 1 (MO1) locus. Sequence analysis identified a homozygous nonsense mutation in CEP19, the gene encoding the ciliary protein CEP19, in all affected family members. CEP19 is highly conserved in vertebrates and invertebrates, is expressed in multiple tissues, and localizes to the centrosome and primary cilia. Homozygous Cep19-knockout mice were morbidly obese, hyperphagic, glucose intolerant, and insulin resistant. Thus, loss of the ciliary protein CEP19 in humans and mice causes morbid obesity and defines a target for investigating the molecular pathogenesis of this disease and potential treatments for obesity and malnutrition.


Assuntos
Proteínas de Ciclo Celular/genética , Inativação Gênica , Obesidade Mórbida/genética , Adulto , Sequência de Aminoácidos , Animais , Clonagem Molecular , Consanguinidade , Sequência Conservada , Modelos Animais de Doenças , Feminino , Ordem dos Genes , Marcação de Genes , Estudos de Associação Genética , Ligação Genética , Genótipo , Teste de Tolerância a Glucose , Humanos , Insulina/metabolismo , Resistência à Insulina/genética , Masculino , Camundongos , Camundongos Knockout , Dados de Sequência Molecular , Mutação , Obesidade Mórbida/diagnóstico , Linhagem , Fenótipo , Mapeamento Físico do Cromossomo , Transdução de Sinais , Adulto Jovem
5.
Am J Hum Genet ; 92(6): 1001-7, 2013 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-23731542

RESUMO

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.


Assuntos
Genes Dominantes , Mutação de Sentido Incorreto , Miofibromatose/congênito , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Sequência de Aminoácidos , Sequência de Bases , Feminino , Estudos de Associação Genética , Humanos , Masculino , Miofibromatose/genética , Linhagem , Receptor Notch3 , Receptores Notch/genética , Análise de Sequência de DNA
6.
Am J Hum Genet ; 90(4): 614-27, 2012 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-22464254

RESUMO

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal-dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. We previously mapped the DMS-MFH tumor-suppressing-gene locus to chromosomal region 9p21-22 but failed to identify mutations in known genes in this region. We now demonstrate that DMS-MFH results from mutations in the most proximal of three previously uncharacterized terminal exons of the gene encoding methylthioadenosine phosphorylase, MTAP. Intriguingly, two of these MTAP exons arose from early and independent retroviral-integration events in primate genomes at least 40 million years ago, and since then, their genomic integration has gained a functional role. MTAP is a ubiquitously expressed homotrimeric-subunit enzyme critical to polyamine metabolism and adenine and methionine salvage pathways and was believed to be encoded as a single transcript from the eight previously described exons. Six distinct retroviral-sequence-containing MTAP isoforms, each of which can physically interact with archetype MTAP, have been identified. The disease-causing mutations occur within one of these retroviral-derived exons and result in exon skipping and dysregulated alternative splicing of all MTAP isoforms. Our results identify a gene involved in the development of bone sarcoma, provide evidence of the primate-specific evolution of certain parts of an existing gene, and demonstrate that mutations in parts of this gene can result in human disease despite its relatively recent origin.


Assuntos
Doenças do Desenvolvimento Ósseo/genética , Neoplasias Ósseas/genética , Genoma , Histiocitoma Fibroso Benigno/genética , Síndromes Neoplásicas Hereditárias/genética , Purina-Núcleosídeo Fosforilase/genética , Retroviridae/genética , Processamento Alternativo/genética , Animais , Sequência de Bases , Evolução Biológica , Cromossomos Humanos Par 9/genética , Éxons , Humanos , Isoenzimas/genética , Dados de Sequência Molecular , Distrofias Musculares/genética , Mutação , Primatas/genética , Sarcoma/genética
7.
FASEB J ; 27(2): 432-6, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23134681

RESUMO

Alternative splicing represents a unique post-transcriptional mechanism that increases the complexity of the eukaryotic proteome-generating protein isoforms whose functions can be novel, diverse, and/or even antagonistic when compared to its full-length transcript. The KLF family of genes consists of ≥17 members, which are involved in the regulation of numerous critical cellular processes, including differentiation, cell proliferation, growth-related signal transduction, angiogenesis, and apoptosis. Using a strategy based on RT-PCR, selective cloning, and promoter-based assays of cancer-relevant genes, we identify and characterize the existence of multiple biologically active KLF splice forms across the entire family of proteins. We demonstrate biological function for a number of these isoforms. Furthermore, we highlight a possible functional interaction between full-length KLF4 and one of its splice variants in up-regulating cellular proliferation. Taken together, this report identifies for the first time a more complete view of the genomic and proteomic breadth and complexity of the KLF transcription factor family, revealing the existence of highly expressed and biologically active isoforms previously uncharacterized. In essence, knowing that these KLF isoforms exist provides the first step toward understanding the roles of these genes in human health and disease.


Assuntos
Processamento Alternativo , Fatores de Transcrição Kruppel-Like/genética , Fatores de Transcrição Kruppel-Like/metabolismo , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Sequência de Bases , Feminino , Células HEK293 , Humanos , Fator 4 Semelhante a Kruppel , Células MCF-7 , Masculino , Modelos Biológicos , Dados de Sequência Molecular , Família Multigênica , Gravidez , Regiões Promotoras Genéticas , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Sítios de Splice de RNA , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Distribuição Tecidual , Transfecção
8.
Disaster Med Public Health Prep ; : 1-12, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38770585

RESUMO

OBJECTIVE: Cancer patients are among the most vulnerable populations during and after a disaster. We evaluated the impact of treatment interruption on the survival of women with gynecologic cancer in Puerto Rico following hurricanes Irma and María. METHODS: Retrospective cohort study among a clinic-based sample of women diagnosed between January 2016-September 2017 (n=112). Women were followed up from their diagnosis until December 2019, to assess vital status. Kaplan-Meier survival curves and Cox proportional hazards models were performed. RESULTS: Mean age was 56 (±12.3) years; corpus uteri (58.9%) was the most common gynecologic cancer. Predominant treatments were surgery (91.1%) and chemotherapy (44.6%). Overall, 75.9% were receiving treatment before the hurricanes, 16.1% experienced treatment interruptions and 8.9% died during the follow-up period. Factors associated with treatment interruption in bivariate analysis included younger age (≤55 years), having regional/distant disease, and receiving >1 cancer treatment (p<0.05). Crude analysis revealed an increased risk of death among women with treatment interruption (HR: 3.88, 95% CI=1.09-13.77), persisting after adjusting for age and cancer stage (HR: 2.49, 95% CI= 0.69-9.01). CONCLUSIONS: Findings underscore the detrimental impact of treatment interruption on cancer survival in the aftermath of hurricanes, emphasizing the need for emergency response plans for this vulnerable population.

9.
JPGN Rep ; 4(4): e357, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38034441

RESUMO

Superior mesenteric artery syndrome and nutcracker syndrome are rare vascular complications most often seen after marked weight loss caused by compression of the duodenum and left renal vein between the superior mesenteric artery and the aorta, respectively. The coexistence of superior mesenteric artery syndrome and nutcracker syndrome has been rarely reported. Herein, we present the case of a 16-year-old male with intermittent periumbilical abdominal pain, bilious vomiting, and weight loss who was found to have both of these vascular complications of significant weight loss as the initial presentation of Crohn's disease. This report provides insight into the diagnosis and treatment of these syndromes while highlighting the importance for practitioners to keep vascular complications on their differential diagnosis of vomiting and abdominal pain in patients with Crohn's disease.

10.
J Family Med Prim Care ; 12(9): 1790-1795, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38024921

RESUMO

Henoch-Schönlein purpura (HSP) is the most common systemic vasculitis in children, often following a viral infection. Various types of rashes attributed to COVID-19 infection have been described in the literature; however, HSP has rarely been reported. We report two children with HSP associated with acute COVID-19 infection with a review of the available literature. We highlight the clinical presentation, medical management, outcome and age-related difference of reported patients. A limitation of this article is the retrospective nature, limiting full patient history and associated conditions. The findings of this review show that HSP in the setting of COVID-19 is more common in children than adults, with a male predominance, involving various body systems creating a constellation of presentations. Given that HSP can have long-term morbidity from renal disease if untreated, this review may help guide the practitioner's approach to HSP and recognition in the setting of COVID-19 infection.

11.
BMC Rheumatol ; 7(1): 19, 2023 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-37434237

RESUMO

BACKGROUND: This paper estimates spatial inequalities of Rheumatoid Arthritis (RA) in Colombia and explores correlates of those disparities from a health system perspective. METHODS: We apply descriptive epidemiology to healthcare administrative records for estimation of crude and age-standardized prevalences, and health systems thinking for identification of barriers to effective access in RA diagnosis. RESULTS: The crude and age-standardized RA prevalence for Colombia in 2018 is estimated at 0.43% and 0.36%, respectively. In the contributory regime, the binding constraint is effective access to rheumatologists in rural and sparsely populated areas; this constraint in workforce affects service delivery, and ultimately comes from the lack of a differentiated model for effective provision of healthcare in those areas (governance). CONCLUSIONS: There are opportunities for implementation of public health policies and health system interventions that would lead to a better identification of RA patients and the subsequent more precise estimation of RA prevalence, and most importantly, to reduce exposition to risk factors and accurate diagnosis and treatment of RA patients.

12.
Artigo em Inglês | MEDLINE | ID: mdl-37848227

RESUMO

Although the progressive histologic steps leading to endometrial cancer (EndoCA), the most common female reproductive tract malignancy, from endometrial hyperplasia are well-established, the molecular changes accompanying this malignant transformation in a single patient have never been described. We had the unique opportunity to investigate the paired histologic and molecular features associated with the 12-yr development of EndoCA in a postmenopausal female who could not undergo hysterectomy and instead underwent progesterone treatment. Using a specially designed 58-gene next-generation sequencing panel, we analyzed a total of 10 sequential biopsy samples collected over this time frame. A total of eight pathogenic/likely pathogenic mutations in seven genes, APC, ARID1A, CTNNB1, CDKN2A, KRAS, PTEN, and TP53, were identified. A PTEN nonsense mutation p.W111* was present in all samples analyzed except histologically normal endometrium. Apart from this PTEN mutation, the only other recurrent mutation was KRAS G12D, which was present in six biopsy samplings, including histologically normal tissue obtained at the patient's first visit but not detectable in the cancer. The PTEN p.W111* mutant allele fractions were lowest in benign, inactive endometrial glands (0.7%), highest in adenocarcinoma (36.9%), and, notably, were always markedly reduced following progesterone treatment. To our knowledge, this report provides the first molecular characterization of EndoCA development in a single patient. A single PTEN mutation was present throughout the 12 years of cancer development. Importantly, and with potential significance toward medical and nonsurgical management of EndoCA, progesterone treatments were consistently noted to markedly decrease PTEN mutant allele fractions to precancerous levels.


Assuntos
Neoplasias do Endométrio , Progesterona , Humanos , Feminino , Hiperplasia , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/terapia , Neoplasias do Endométrio/patologia , Endométrio , Mutação
13.
Ann Palliat Med ; 11(12): 3620-3625, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36571169

RESUMO

BACKGROUND: Data is lacking as to the clinical presentation of erosive esophagitis (EE) in neurologically impaired children compared to non-neurologically impaired children (non-NIC). To determinate the clinical presentation, associations, management, and outcomes of EE in neurologically impaired children compared to children without neurologic impairment. METHODS: Retrospective chart review of all esophagogastroduodenoscopies performed in pediatric patients at the University of Mississippi Medical Center from 1998 to 2020 with the diagnosis of EE. Fisher's exact test was used to compare results from neurologically impaired children group and non-NIC. A probability <0.05 was considered statistically significant. RESULTS: Forty-seven patients were diagnosed with EE and met study criteria. Twenty-six patients were neurologically impaired children, and 21 were non-neurologically impaired children. No significant difference was seen between age at diagnosis, sex, or hematologic markers of anemia. The most common indication for esophagogastroduodenoscopies in neurologically impaired children was hematemesis (65.4%), whereas abdominal pain (33.3%) was the most common in non-NIC. Neurologically impaired children were more likely to be treated with acid-blockade. Nine neurologically impaired children had gastrostomy tubes prior to diagnosis as opposed to 0 non-neurologically impaired children. After diagnosis, 8 neurologically impaired children underwent gastrostomy tube placement compared to 0 non-neurologically impaired children, and fundoplication was performed in 11 neurologically impaired children as compared to 1 non-NIC. The sensitivity of fecal occult blood test for detecting EE was higher for neurologically impaired children (91.7%) than for non-NIC (33.3%). CONCLUSIONS: EE in neurologically impaired children presents differently than in non-neurologically impaired children with blood loss being the most common presentation in neurologically impaired children. Neurologically impaired children are more likely to be treated with acid-blockade prior to diagnosis, likely due to heightened risk for gastroesophageal reflux disease (GERD). Additionally, they are more likely to undergo surgical management of EE than non-neurologically impaired children.


Assuntos
Esofagite , Refluxo Gastroesofágico , Humanos , Criança , Estudos Retrospectivos , Refluxo Gastroesofágico/complicações , Refluxo Gastroesofágico/terapia , Fundoplicatura/métodos , Esofagite/complicações , Endoscopia
14.
Artigo em Inglês | MEDLINE | ID: mdl-34769708

RESUMO

BACKGROUND: Hurricanes are the immediate ways that people experience climate impacts in the Caribbean. These events affect socio-ecological systems and lead to major disruptions in the healthcare system, having effects on health outcomes. In September 2017, Puerto Rico (PR) and the United States Virgin Islands (USVI) experienced one of the most catastrophic hurricane seasons in recent history (Hurricane Irma was a Category 5 and Hurricane María was a Category 4 when they hit PR). OBJECTIVE: This study examines environmental stressors experienced by women with gynecologic (GYN) cancers from PR and USVI who received oncologic cancer care in PR, in the aftermath of the hurricanes. METHODS: A descriptive qualitative study design was used to obtain rich information for understanding the context, barriers, knowledge, perspectives, risks, vulnerabilities, and attitudes associated to these hurricanes. We performed focus groups among GYN cancer patients (n = 24) and key-informant interviews (n = 21) among health-care providers and administrators. Interviews were conducted from December 2018-April 2019. RESULTS: Environmental health stressors such as lack of water, heat and uncomfortable temperatures, air pollution (air quality), noise pollution, mosquitos, and rats ranked in the top concerns among cancer patients and key-informants. CONCLUSIONS: These findings are relevant to cancer patients, decision-makers, and health providers facing extreme events and disasters in the Caribbean. Identifying environmental secondary stressors and the most relevant cascading effects is useful for decision-makers so that they may address and mitigate the effects of hurricanes on public health and cancer care.


Assuntos
Tempestades Ciclônicas , Desastres , Neoplasias dos Genitais Femininos , Atenção à Saúde , Saúde Ambiental , Feminino , Humanos , Porto Rico/epidemiologia
15.
Cancer Epidemiol Biomarkers Prev ; 29(7): 1290-1293, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32317299

RESUMO

Patients with cancer are among the most vulnerable populations in the aftermath of a disaster. They are at higher risk of medical complications and death due to the collapse of or disruptions in the health care system, the community infrastructure, and the complexity of cancer care. The United Nations' Sendai Framework for Disaster Reduction states that people with life-threatening and chronic diseases should be considered in disaster plans to manage their risks. With extreme weather or disasters becoming more intense and frequent and with the high burden of cancer in the United States and its territories, it is important to develop region-specific plans to mitigate the impact of these events on the cancer patient population. After Hurricanes Irma and Maria hit Puerto Rico and the U.S. Virgin Islands in 2017, the need to develop and implement such plans for patients with cancer was evident. We describe ongoing efforts and opportunities for disseminating and implementing emergency response plans to maintain adequate cancer care for patients during and after disasters. While plans for patients with cancer should be housed within the emergency support function infrastructure of each jurisdiction, the Centers for Disease Control and Prevention's Comprehensive Cancer Control Plans provide excellent community-centered mechanisms to support these efforts.


Assuntos
Desastres Naturais/normas , Neoplasias/epidemiologia , Humanos , Porto Rico , Fatores de Risco , Estados Unidos
16.
World J Clin Cases ; 7(12): 1456-1460, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31363473

RESUMO

BACKGROUND: The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an often overlooked feature is hepatic involvement. CASE SUMMARY: We report a child who initially presented with failure to thrive and mildly elevated transaminase levels and was determined to have pancreatic insufficiency due to SDS. During follow-up he had persistently elevated transaminase levels and developed hepatosplenomegaly. An investigation was performed to determine the etiology of ongoing liver injury, including a liver biopsy which revealed hepatic cirrhosis. CONCLUSION: Cirrhosis has rarely been reported with SDS. While many of the hepatic disorders associated with SDS improve with age, there are rare exceptions with serious implications for long-term outcome.

17.
Artigo em Inglês | MEDLINE | ID: mdl-31628202

RESUMO

Epithelial ovarian cancer (OvCa) is the most lethal female reproductive tract malignancy. A major clinical hurdle in patient management and treatment is that when using current surveillance technologies 80% of patients will be clinically diagnosed as having had a complete clinical response to primary therapy. In fact, the majority of women nonetheless develop disease recurrence within 18 mo. Thus, without more accurate surveillance protocols, the diagnostic question regarding OvCa recurrence remains framed as "when" rather than "if." With this background, we describe the case of a 61-yr-old female who presented with a 3-mo history of unexplained whole-body rash, which unexpectedly led to a diagnosis of and her treatment for OvCa. The rash resolved immediately following debulking surgery. Nearly 1 yr later, however, the rash reappeared, prompting the prospect of tumor recurrence and requirement for additional chemotherapy. To investigate this possibility, we undertook a genomics-based tumor surveillance approach using a targeted 56-gene NGS panel and biobanked tumor samples to develop personalized ctDNA biomarkers. Although tumor-specific TP53 and PTEN mutations were detectable in all originally collected tumor samples, pelvic washes, and blood samples, they were not detectable in any biosample collected beyond the first month of treatment. No additional chemotherapy was given. The rash spontaneously resolved. Now, 2 yr beyond the patient's original surgery, and in the face of continued negative ctDNA findings, the patient remains with no evidence of disease. As this single case report suggests, we believe for the first time that ctDNA can provide an additional layer of information to avoid overtreatment.


Assuntos
Carcinoma Epitelial do Ovário/genética , Exantema/genética , Biomarcadores Tumorais/genética , Carcinoma Epitelial do Ovário/diagnóstico , DNA Tumoral Circulante/genética , Exantema/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Mutação , Recidiva Local de Neoplasia/genética , Neoplasias Ovarianas/genética , Ovário/patologia , PTEN Fosfo-Hidrolase , Medicina de Precisão/métodos
18.
Curr Oral Health Rep ; 6(1): 22-30, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33680712

RESUMO

PURPOSE OF REVIEW: Research suggests that periodontal tissue might serve as a reservoir for oral human papillomavirus (HPV) infection, while another hypothesis is that chronic inflammation of the tissue might perpetuate an infection with oral HPV infection. In this narrative review, we summarize the evidence related to a potential association between oral HPV infection and periodontitis. RECENT FINDINGS: Twelve articles were identified, and their key findings summarized. Studies vary in sample size, study population, study design, and methods for assessment of oral HPV and periodontitis. Although results are conflicting and still inconclusive, various studies have found an association between oral HPV infection and periodontitis, which is supported by biological plausibility. SUMMARY: Future longitudinal studies should further evaluate this association, using clinical definitions of oral HPV infection and periodontitis, and focusing on high-risk populations for oral HPV infection. Studying this association is important since periodontitis might help identify at-risk individuals for oral HPV infection and potentially HPV-related oropharyngeal cancers.

19.
PLoS One ; 13(12): e0208513, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30566516

RESUMO

The shift of the Noncommunicable Diseases (NCDs) epidemic, including cardiovascular disease, from developed to Low and Middle Income Countries (LMIC), creates new challenges in contexts where there is poor information on healthcare costs. Clearly this information is essential for planning, and its relevance is even more valuable as a driver for prevention and control of NCDs. This paper begins to address that handicap by estimating the healthcare cost of Cardiovascular Disease (Coronary Heart Disease and Stroke) in Colombia, using a person-based approach. Results show that the annual healthcare cost of a person with Coronary Heart Disease is between INT$ 4,277 and INT$ 4,846, while the cost for a person with Stroke varies between INT$5,816 and INT$6,616. The expansion of the NCDs epidemic combined with such high costs threatens the financial sustainability of health systems; primary prevention and policies targeting structural and intermediate determinants of health are a promising way to make health systems financially sustainable.


Assuntos
Doenças Cardiovasculares/economia , Doenças Cardiovasculares/epidemiologia , Efeitos Psicossociais da Doença , Acesso à Informação , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/psicologia , Colômbia/epidemiologia , Feminino , Custos de Cuidados de Saúde/estatística & dados numéricos , Gastos em Saúde/estatística & dados numéricos , Humanos , Seguro Saúde/economia , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
20.
Acta Odontol Latinoam ; 30(1): 19-25, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28688182

RESUMO

Dentistry is interested in identifying and controlling adverse events, understood as involuntary injuries to the patient during dental care. The aim of this study was to analyze the adverse events reported to the Office of the Clinical Director at the School of Dentistry at Pontificia Universidad Javeriana (Colombia) during 2011-2012. It was an observational, descriptive study that evaluated 227 dental clinical records of patients who filed a complaint with the Office of the Clinical Director. Of these, 43 were adverse events and were used as the basis for this study. Of the 16,060 patients who received care during 2011 - 2012, 0.26% (43) filed a complaint involving an adverse event, of which 97.7 % were considered preventable. Most of these (76.18%, n= 32) occurred during clinical management of treatments in different specialties, 9.5% (4) were the result of deficient external dental laboratory quality, and 14.32% (6) were due to failure in document management, soft tissue injury, misdiagnosis and swallowing foreign objects. Of the patients involved, 65.2% (28) received care from postgraduate students, with the highest number of cases in the Oral Rehabilitation speciality. The occurrence of adverse events during dental care, indicates the need for information about their origin in order to establish protection barriers and prevent their incidence, particularly in the educational area under the student dental clinic service model.


En odontología existe interés por identificar y controlar los eventos adversos, entendidos como las lesiones no voluntarias que ocurren durante la atención odontológica. El objetivo de este estudio fue analizar los eventos adversos reportados a Dirección de Clínicas de la Facultad de Odontología de la Pontificia Universidad Javeriana durante el periodo 2011-2012. Se realizó un estudio observacional descriptivo para el que se evaluaron 227 historias clínicas de pacientes que reportaron una queja a la Dirección de Clínicas, de las cuales en 43 se evidenció la presencia de eventos adversos, a partir de las cuales se registró la información analizada en este estudio. De los 16.060 pacientes atendidos durante el periodo 2011 y 2012, el 0,26% (43) formularon alguna queja que resultó en un evento adverso, de los cuales el 97,7 % se consideraron prevenibles. El mayor porcentaje 76,18 % (32) se presentó durante la gestión clínica de tratamientos en diferentes áreas. El 9,5 % (4), se debieron a fallas en la calidad del trabajo del laboratorio externo; el 14,32% (6) correspondió a eventos generados por fallas en la gestión documental, lesiones de tejidos blandos, fallas de diagnóstico y deglución de objetos extraños. El 65,2 % (28) de los pacientes fueron atendidos por estudiantes de posgrado, con el mayor número de casos en la especialidad de Rehabilitación Oral. La presentación de eventos adversos durante el proceso de atención en odontología, es indicador de la necesidad de conocer su origen para establecer barreras de protección y prevenir su incidencia, especialmente en el área formativa bajo el modelo de atención docencia servicio.


Assuntos
Assistência Odontológica , Erros Médicos/estatística & dados numéricos , Gestão de Riscos/estatística & dados numéricos , Faculdades de Odontologia , Adulto , Colômbia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
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