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1.
Am J Hum Genet ; 110(10): 1787-1803, 2023 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-37751738

RESUMO

Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families. Loss-of-function variants in PLS3 have been previously associated with X-linked osteoporosis (MIM: 300910), so we used in silico protein modeling and a mouse model to address these seemingly disparate clinical phenotypes. The missense variants in individuals with CDH are located within the actin-binding domains of the protein but are not predicted to affect protein structure, whereas the variants in individuals with osteoporosis are predicted to result in loss of function. A mouse knockin model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Both the mouse model and one adult human male with a CDH-associated PLS3 variant were observed to have increased rather than decreased bone mineral density. Together, these clinical and functional data in humans and mice reveal that specific missense variants affecting the actin-binding domains of PLS3 might have a gain-of-function effect and cause a Mendelian congenital disorder.


Assuntos
Hérnias Diafragmáticas Congênitas , Osteoporose , Adulto , Humanos , Masculino , Animais , Camundongos , Hérnias Diafragmáticas Congênitas/genética , Actinas/genética , Mutação de Sentido Incorreto/genética , Osteoporose/genética
2.
Allergy ; 78(10): 2732-2744, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37287363

RESUMO

BACKGROUND: Eosinophilic esophagitis (EoE) is a chronic non-IgE-mediated allergic disease of the esophagus. An unbiased proteomics approach was performed to investigate pathophysiological changes in esophageal epithelium. Additionally, an RNAseq-based transcriptomic analysis in paired samples was also carried out. METHODS: Total proteins were purified from esophageal endoscopic biopsies in a cohort of adult EoE patients (n = 25) and healthy esophagus controls (n = 10). Differentially accumulated (DA) proteins in EoE patients compared to control tissues were characterized to identify altered biological processes and signaling pathways. Results were also compared with a quantitative proteome dataset of the human esophageal mucosa. Next, results were contrasted with those obtained after RNAseq analysis in paired samples. Finally, we matched up protein expression with two EoE-specific mRNA panels (EDP and Eso-EoE panel). RESULTS: A total of 1667 proteins were identified, of which 363 were DA in EoE. RNA sequencing in paired samples identified 1993 differentially expressed (DE) genes. Total RNA and protein levels positively correlated, especially in DE mRNA-proteins pairs. Pathway analysis of these proteins in EoE showed alterations in immune and inflammatory responses for the upregulated proteins, and in epithelial differentiation, cornification and keratinization in those downregulated. Interestingly, a set of DA proteins, including eosinophil-related and secreted proteins, were not detected at the mRNA level. Protein expression positively correlated with EDP and Eso-EoE, and corresponded with the most abundant proteins of the human esophageal proteome. CONCLUSIONS: We unraveled for the first time key proteomic features involved in EoE pathogenesis. An integrative analysis of transcriptomic and proteomic datasets provides a deeper insight than transcriptomic alone into understanding complex disease mechanisms.


Assuntos
Esofagite Eosinofílica , Adulto , Humanos , Esofagite Eosinofílica/patologia , Mucosa Esofágica/metabolismo , Proteoma , Proteômica , RNA Mensageiro/genética , Epitélio/patologia
3.
Am J Med Genet A ; 191(6): 1518-1524, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36924216

RESUMO

Arteriovenous malformations (AVMs) are vascular lesions in which an overgrowth of blood vessels of varying sizes develops with one or more direct connections between the arterial and venous circulation. We performed a retrospective review of a cohort of 54 patients with AVMs referred to our clinical genomic laboratory for high-depth next-generation sequencing (NGS) panel of Disorders of Somatic Mosaicism (DoSM). Thirty-seven of 54 patients were female (68.5%). Among the 54 cases, 37 (68.5%) cases had pathogenic and/or likely pathogenic (P/LP) variants identified, two cases (3.7%) had variants of uncertain clinical significance, and the remaining 15 cases (27.8%) had negative results. MAP2K1 variants were found in 12 cases, followed by eight cases with KRAS variants and seven with TEK variants, and the remainder being identified in several other genes on the panel. Among the 37 positive cases, 32 cases had somatic alterations only; the remaining five cases had at least one germline P/LP variant, including four cases with PTEN and one with RASA1. Of note, two cases had the unexpected co-existence of two P/LP variants. In summary, this study illustrated the molecular diagnostic yield (68.5%) of this cohort of patients with a clinical indication of AVMs by our high-depth DoSM NGS panel.


Assuntos
Malformações Arteriovenosas , Humanos , Feminino , Masculino , Mutação , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/genética , Mutação em Linhagem Germinativa , Aberrações Cromossômicas , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Proteína p120 Ativadora de GTPase/genética
4.
5.
Ann Diagn Pathol ; 62: 152076, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36495735

RESUMO

OBJECTIVE: To evaluate if peri-pregnancy timing of a PCR+ test for SARS-CoV-2 RNA affects pregnancy outcomes and placental pathology. METHODS: This is a retrospective cohort study conducted in a tertiary center. Pregnancy outcomes and placental pathology were compiled for women who tested positive for SARS-CoV-2 RNA from a nasopharyngeal swab assessed by RT-PCR. The population comprised four groups that were PCR+ preconception (T0) or in the 1st (T1), 2nd (T2), or 3rd (T3) trimester of pregnancy. A fifth, control group (TC) tested PCR- for SARS-CoV-2 before delivery. RESULTS: Seventy-one pregnancies were studied. The T0 group exhibited lower gestational ages at delivery, had infants with the lowest birth weights, the highest rate of pregnancy loss before 20 weeks. Features of maternal vascular malperfusion and accelerated villous maturation were prominent findings in the histopathology of placentas from women PCR+ for SARS-CoV-2 RNA, especially in the T0 and the T1 groups. CONCLUSION: Women at highest risk for pregnancy complications are those who test PCR+ for viral RNA preconception or during first trimester of pregnancy.


Assuntos
COVID-19 , Placenta , Complicações Infecciosas na Gravidez , Feminino , Humanos , Lactente , Gravidez , COVID-19/patologia , Placenta/patologia , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/patologia , Resultado da Gravidez , Estudos Retrospectivos , RNA Viral , SARS-CoV-2
6.
Rev Esp Enferm Dig ; 2023 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-37314121

RESUMO

SANT (sclerosing angiomatoid nodular transformation) tumor is a rare splenic tumor of unknown etiology and vascular lineage, first described in 2004. Most cases are asymptomatic, although cases of anemia or abdominal pain in association with growth have been described. Spontaneous ruptures have not been described. Radiologically it presents a radial pattern with centripetal filling in dynamic MRI, being a characteristic feature, but not pathognomonic. It may present hypermetabolism in PET-CT. Its incidence is increasing since its description as an independent clinical and histopathological entity, especially in the oncological patients follow-up. Due to its radiological resemblance to metastatic lesions and its growth despite being a vascular lesion, splenectomy is indicated following the principles of oncologic surgery until a definitive diagnosis is made. It presents a benign behavior, requiring neither treatment nor specific subsequent surveillance. Two diagnosed cases of SANT are presented, as well as a review of the clinical, radiological and histopathological characteristics of this little-known splenic lesion.

7.
Ann Neurol ; 89(3): 598-603, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33295021

RESUMO

We diagnosed 11 Guillain-Barré syndrome (GBS) cases among 71,904 COVID patients attended at 61 Spanish emergency departments (EDs) during the 2-month pandemic peak. The relative frequency of GBS among ED patients was higher in COVID (0.15‰) than non-COVID (0.02‰) patients (odds ratio [OR] = 6.30, 95% confidence interval [CI] = 3.18-12.5), as was the standardized incidence (9.44 and 0.69 cases/100,000 inhabitant-years, respectively, OR = 13.5, 95% CI = 9.87-18.4). Regarding clinical characteristics, olfactory-gustatory disorders were more frequent in COVID-GBS than non-COVID-GBS (OR = 27.59, 95% CI = 1.296-587) and COVID-non-GBS (OR = 7.875, 95% CI = 1.587-39.09) patients. Although COVID-GBS patients were more frequently admitted to intensive care, mortality was not increased versus control groups. Our results suggest SARS-CoV-2 could be another viral infection causing GBS. ANN NEUROL 2021;89:598-603.


Assuntos
COVID-19/fisiopatologia , Síndrome de Guillain-Barré/epidemiologia , Mortalidade Hospitalar , Unidades de Terapia Intensiva/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Transtornos do Olfato/epidemiologia , Distúrbios do Paladar/epidemiologia , Adulto , Idoso , COVID-19/complicações , Estudos de Casos e Controles , Feminino , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/fisiopatologia , Síndrome de Guillain-Barré/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Incidência , Masculino , Pessoa de Meia-Idade , Transtornos do Olfato/etiologia , Transtornos do Olfato/fisiopatologia , Fatores de Risco , SARS-CoV-2 , Espanha/epidemiologia , Distúrbios do Paladar/etiologia , Distúrbios do Paladar/fisiopatologia
8.
Pharmacoepidemiol Drug Saf ; 31(3): 343-352, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34957616

RESUMO

PURPOSE: Drug utilization research (DUR) contributes to inform policymaking and to strengthen health systems. The availability of data sources is the first step for conducting DUR. However, documents that systematize these data sources in Latin American (LatAm) countries are not known. We compiled the potential data sources for DUR in the LatAm region. METHODS: A network of DUR experts from nine LatAm countries was assembled and experts conducted: (i) a website search of the government, academic, and private health institutions; (ii) screening of eligible data sources, and (iii) liaising with national experts in pharmacoepidemiology (via an online survey). The data sources were characterized by accessibility, geographic granularity, setting, sector of the data, sources and type of the data. Descriptive analyses were performed. RESULTS: We identified 125 data sources for DUR in nine LatAm countries. Thirty-eight (30%) of them were publicly and conveniently available; 89 (71%) were accessible with limitations, and 18 (14%) were not accessible or lacked clear rules for data access. From the 125 data sources, 76 (61%) were from the public sector only; 46 (37%) were from pharmacy records; 43 (34%) came from ambulatory settings and; 85 (68%) gave access to individual patient-level data. CONCLUSIONS: Although multiple sources for DUR are available in LatAm countries, the accessibility is a major challenge. The procedures for accessing DUR data should be transparent, feasible, affordable, and protocol-driven. This inventory could permit a comparison of drug utilization between countries identifying potential medication-related problems that need further exploration.


Assuntos
Uso de Medicamentos , Armazenamento e Recuperação da Informação , Humanos , América Latina , Inquéritos e Questionários
9.
Curr Atheroscler Rep ; 23(11): 72, 2021 09 13.
Artigo em Inglês | MEDLINE | ID: mdl-34515873

RESUMO

PURPOSE OF REVIEW: Hypertriglyceridemia (HTG) is common and is a significant contributor to atherosclerosis and pancreatitis risk. Specific HTG treatments have had variable success in reducing atherosclerosis risk. Novel therapies for severe HTG treatment and pancreatitis risk reduction are likely to be available soon. These novel therapies are expected to have broader applications for more moderate HTG and atherosclerosis risk reduction as well. RECENT FINDINGS: NHANES 2012 data has confirmed a reduction in average triglyceride (TG) levels in the US population. Dietary modification and weight reduction when needed remain the core treatment elements for all individuals with HTG, while statin therapy is a foundational pharmacologic care for atherosclerotic cardiovascular disease (ASCVD) event risk reduction. In addition, the REDUCE-IT study provides evidence for additional benefit from the use of high-dose icosapent ethyl (IPE) on top of background medical therapy in adults with moderate HTG and ASCVD or type 2 diabetes mellitus (T2D) and additional ASCVD risk factors. However, treatment with eicosapentaenoic acid (EPA) combined with docosahexanoic acid (DHA) did not reduce ASCVD in a similar population studied in the STRENGTH trial. Furthermore, novel therapeutics targeting PPAR-ɑ, as well as ApoC-III and AngPTL3, effectively lower TG levels in individuals with moderate and severe HTG, respectively. These treatments may have applicability for reducing risk from ASCVD among individuals with chylomicronemia; in addition, ApoC-III and AngPTL3 treatments may have a role in treating individuals with the rare monogenic familial chylomicronemia syndrome (FCS) at risk for acute pancreatitis (AP). Residual ASCVD risk in individuals treated with contemporary care may be due in part to non-LDL lipid abnormalities including HTG. The findings from REDUCE-IT, but not STRENGTH, confirm that consumption of high-dose EPA may reduce ASCVD risk, while combination therapy of EPA plus DHA does not reduce ASCVD in a similar population. TG lowering likely reduces ASCVD risk in individuals with HTG, but ASCVD risk is multifactorial; the added benefit of IPE to contemporary preventive therapy is the consequence of differential non-TG biologic properties between the two fatty acids. Acute pancreatitis is more difficult to study prospectively since it is less common; however, TG lowering is likely critical for the care of at-risk individuals. Additional benefit from novel therapy that has an impact on this otherwise refractory condition is anticipated.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Hipertrigliceridemia , Pancreatite , Doença Aguda , Adulto , Proteína 3 Semelhante a Angiopoietina , Proteínas Semelhantes a Angiopoietina , Humanos , Hipertrigliceridemia/complicações , Hipertrigliceridemia/tratamento farmacológico , Hipertrigliceridemia/epidemiologia , Inquéritos Nutricionais , Pancreatite/complicações , Pancreatite/tratamento farmacológico , Pancreatite/epidemiologia , Triglicerídeos
10.
Am J Med Genet A ; 185(3): 916-922, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33369125

RESUMO

ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bones due to variants of ALX4. The contrasting phenotype of premature ossification of sutures is observed with heterozygous loss-of-function variants of TWIST1, which is an important regulator of osteoblast differentiation. Here, we describe an individual with a large cranium defect, with dominant transmission from the mother, both carrying disease causing heterozygous variants in ALX4 and TWIST1. The distinct phenotype of absent superior and posterior calvarium in the child and his mother was in sharp contrast to the other affected maternal relatives with a recognizable ALX4-related EPF phenotype. This report demonstrates comorbid disorders of Saethre-Chotzen syndrome and EPF in a mother and her child, resulting in severe skull defects reminiscent of calvarial abnormalities observed with bilallelic ALX4 variants. To our knowledge this is the first instance of ALX4 and TWIST1 variants acting synergistically to cause a unique phenotype influencing skull ossification.


Assuntos
Anormalidades Múltiplas/genética , Acrocefalossindactilia/genética , Proteínas de Ligação a DNA/genética , Mutação da Fase de Leitura , Mutação com Perda de Função , Mutação de Sentido Incorreto , Proteínas Nucleares/genética , Osteogênese/genética , Crânio/anormalidades , Fatores de Transcrição/genética , Proteína 1 Relacionada a Twist/genética , Adulto , Vermis Cerebelar/anormalidades , Proteínas de Ligação a DNA/deficiência , Feminino , Deformidades Congênitas do Pé/genética , Genes Dominantes , Deformidades Congênitas da Mão/genética , Heterozigoto , Humanos , Imageamento Tridimensional , Recém-Nascido , Masculino , Proteínas Nucleares/deficiência , Linhagem , Gravidez , Crânio/diagnóstico por imagem , Crânio/embriologia , Sindactilia/genética , Polegar/anormalidades , Tomografia Computadorizada por Raios X , Fatores de Transcrição/deficiência , Proteína 1 Relacionada a Twist/deficiência , Ultrassonografia Pré-Natal , Sequenciamento do Exoma
11.
Rev Panam Salud Publica ; 45: e72, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-34131425

RESUMO

This report traces the progressive expansion of health accounts (HA) to measure national health expenditures, from the first attempts in 1926 by the American Medical Association to the present day. Milestones in the development of A System of Health Accounts (SHA) are covered, from the economic background to initial efforts by a few countries and organizations, to the need for a set of accounting standards for health care systems, and finally, to consolidation with SHA 2011. International organizations, such as the World Health Organization, Organization for Economic Cooperation and Development, Eurostat, the World Bank, and the United States Agency for International Development have been critical to expanding national HA exercises and ensuring that these are standardized, comparable, and become institutionalized. National efforts to track health expenditures have not only enriched collective results, but have become an important component of global leadership, informing policy the world over. More than 100 countries have created HA under the global standard and have gained a better understanding of health spending and financial flows. These results are key for monitoring progress toward national and global initiatives, such as the Sustainable Development Goals and Universal Health Coverage. Challenges remain to be tackled, among them institutionalization and quality of results. Social responsibility for improving data sources and expanding the generation and usability of health accounts are also needed.


Este informe traça a progressiva expansão das contas da saúde para mensurar os gastos nacionais em saúde, das primeiras tentativas em 1926 pela Associação Americana de Medicina aos dias de hoje. Os marcos do desenvolvimento de um sistema de contas da saúde (SHA) são apresentados: dos antecedentes econômicos, esforços iniciais por parte de alguns países e organizações e necessidade de estabelecer um conjunto de normas contábeis para os sistemas de saúde à consolidação do sistema de contas da saúde (SHA) 2011. As organizações internacionais, como Organização Mundial da Saúde, Organização para a Cooperação e Desenvolvimento Econômico, Eurostat, Banco Mundial e Agência dos Estados Unidos para o Desenvolvimento Internacional, têm sido peças fundamentais para expandir os exercícios de contas nacionais da saúde e assegurar sua padronização, equivalência e institucionalização. Os esforços nacionais para monitorar os gastos em saúde não apenas melhoram os resultados coletivos, mas também são um importante componente de liderança global, servindo de base para políticas no mundo todo. Mais de 100 países criaram contas da saúde segundo o padrão global e têm agora um melhor entendimento do gasto em saúde e fluxos financeiros. Esses resultados são essenciais para monitorar o progresso rumo às iniciativas nacionais e globais, como os Objetivos de Desenvolvimento Sustentável e a cobertura universal de saúde. Existem ainda desafios a serem vencidos, como institucionalização e qualidade dos resultados. Também é preciso responsabilidade social para melhorar as fontes de dados e expandir a geração e a usabilidade das contas da saúde.

12.
J Antimicrob Chemother ; 75(3): 656-667, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-31819984

RESUMO

BACKGROUND: Pretreatment HIV drug resistance (HIVDR) to NNRTIs has consistently increased in Mexico City during the last decade. OBJECTIVES: To infer the HIV genetic transmission network in Mexico City to describe the dynamics of the local HIV epidemic and spread of HIVDR. PATIENTS AND METHODS: HIV pol sequences were obtained by next-generation sequencing from 2447 individuals before initiation of ART at the largest HIV clinic in Mexico City (April 2016 to June 2018). Pretreatment HIVDR was estimated using the Stanford algorithm at a Sanger-like threshold (≥20%). Genetic networks were inferred with HIV-TRACE, establishing putative transmission links with genetic distances <1.5%. We examined demographic associations among linked individuals with shared drug resistance mutations (DRMs) using a ≥ 2% threshold to include low-frequency variants. RESULTS: Pretreatment HIVDR reached 14.8% (95% CI 13.4%-16.2%) in the cohort overall and 9.6% (8.5%-10.8%) to NNRTIs. Putative links with at least one other sequence were found for 963/2447 (39%) sequences, forming 326 clusters (2-20 individuals). The inferred network was assortative by age and municipality (P < 0.001). Clustering individuals were younger [adjusted OR (aOR) per year = 0.96, 95% CI 0.95-0.97, P < 0.001] and less likely to include women (aOR = 0.46, 95% CI 0.28-0.75, P = 0.002). Among clustering individuals, 175/963 (18%) shared DRMs (involving 66 clusters), of which 66/175 (38%) shared K103N/S (24 clusters). Eight municipalities (out of 75) harboured 65% of persons sharing DRMs. Among all persons sharing DRMs, those sharing K103N were younger (aOR = 0.93, 95% CI 0.88-0.98, P = 0.003). CONCLUSIONS: Our analyses suggest age- and geographically associated transmission of DRMs within the HIV genetic network in Mexico City, warranting continuous monitoring and focused interventions.


Assuntos
Fármacos Anti-HIV , Infecções por HIV , HIV-1 , Fármacos Anti-HIV/uso terapêutico , Cidades , Farmacorresistência Viral , Feminino , Redes Reguladoras de Genes , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Humanos , México/epidemiologia , Mutação
13.
Am J Med Genet A ; 182(6): 1387-1399, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32233023

RESUMO

BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is a relatively common arrhythmia affecting ~1-3/1,000 individuals. Mutations in PRKAG2 have been described in rare patients in association with cardiomyopathy. However, the genetic basis of WPW in individuals with a structurally normal heart remains poorly understood. Sudden death due to atrial fibrillation (AF) can also occur in these individuals. Several studies have indicated that despite ablation of an accessory pathway, the risk of AF remains high in patients compared to general population. METHODS: We applied exome sequencing in 305 subjects, including 65 trios, 80 singletons, and 6 multiple affected families. We used de novo analysis, candidate gene approach, and burden testing to explore the genetic contributions to WPW. RESULTS: A heterozygous deleterious variant in PRKAG2 was identified in one subject, accounting for 0.6% (1/151) of the genetic basis of WPW in this study. Another individual with WPW and left ventricular hypertrophy carried a known pathogenic variant in MYH7. We found rare de novo variants in genes associated with arrhythmia and cardiomyopathy (ANK2, NEBL, PITX2, and PRDM16) in this cohort. There was an increased burden of rare deleterious variants (MAF ≤ 0.005) with CADD score ≥ 25 in genes linked to AF in cases compared to controls (P = .0023). CONCLUSIONS: Our findings show an increased burden of rare deleterious variants in genes linked to AF in WPW syndrome, suggesting that genetic factors that determine the development of accessory pathways may be linked to an increased susceptibility of atrial muscle to AF in a subset of patients.


Assuntos
Proteínas Quinases Ativadas por AMP/genética , Fibrilação Atrial/genética , Predisposição Genética para Doença , Síndrome de Wolff-Parkinson-White/genética , Adolescente , Adulto , Anquirinas/genética , Fibrilação Atrial/patologia , Proteínas de Transporte/genética , Criança , Estudos de Coortes , Proteínas do Citoesqueleto/genética , Proteínas de Ligação a DNA/genética , Feminino , Estudos de Associação Genética , Átrios do Coração/patologia , Proteínas de Homeodomínio/genética , Humanos , Proteínas com Domínio LIM/genética , Masculino , Mutação/genética , Fatores de Transcrição/genética , Sequenciamento do Exoma , Síndrome de Wolff-Parkinson-White/patologia , Adulto Jovem , Proteína Homeobox PITX2
14.
BMC Gastroenterol ; 20(1): 227, 2020 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-32660521

RESUMO

BACKGROUND: Inpatient status has been shown to be a predictor of poor bowel preparation for colonoscopy; however, the optimal bowel preparation regimen for hospitalized patients is unknown. Our aim was to compare the efficacy of bowel preparation volume size in hospitalized patients undergoing inpatient colonoscopy. METHODS: This prospective, single blinded (endoscopist), randomized controlled trial was conducted as a pilot study at a tertiary referral medical center. Hospitalized patients undergoing inpatient colonoscopy were assigned randomly to receive a high, medium, or low-volume preparation. Data collection included colon preparation quality, based on the Boston Bowel Preparation Scale, and a questionnaire given to all subjects evaluating the ability to completely finish bowel preparation and adverse effects (unpleasant taste, nausea, and vomiting). RESULTS: Twenty-five colonoscopies were performed in 25 subjects. Patients who received low-volume preparation averaged a higher mean total BBPS (7.4, SD 1.62), in comparison to patients who received high-volume (7.0, SD 1.41) and medium-volume prep (6.9, SD 1.55), P = 0.77. When evaluating taste a higher score meant worse taste. The low-volume group scored unpleasant taste as 0.6 (0.74), while the high-volume group gave unpleasant taste a score of 2.2 (0.97) and the medium-volume group gave a score of 2.1 (1.36), P < 0.01. CONCLUSION: In this pilot study we found that low-volume colon preparation may be preferred in the inpatient setting due its better rate of tolerability and comparable bowel cleanliness when compared to larger volume preparation, although we cannot overreach any definitive conclusion. Further more robust studies are required to confirm these findings. TRIAL REGISTRATION: The Affect of Low-Volume Bowel Preparation for Hospitalized Patients Colonoscopies. TRIAL REGISTRATION: NCT01978509 (terminated). Retrospectively registered on November 07, 2013.


Assuntos
Colonoscopia , Pacientes Internados , Catárticos/efeitos adversos , Colo , Humanos , Projetos Piloto , Polietilenoglicóis , Estudos Prospectivos , Método Simples-Cego
15.
Dis Esophagus ; 33(10)2020 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-32566945

RESUMO

Distal esophageal spasm (DES) is a motility disorder characterized by premature contraction of the esophageal body during single swallows. It is thought to be due to impairment of esophageal inhibitory pathways, but studies to support this are limited. The normal response to multiple rapid swallows (MRS) is deglutitive inhibition of the esophageal body during the MRS sequence. Our aim was to compare the response to MRS in DES patients and healthy control subjects. Response to MRS during HRM was evaluated in 19 DES patients (8 with and 11 without concomitant esophagogastric junction outflow obstruction [EGJOO]) and 24 asymptomatic healthy controls. Patients with prior gastroesophageal surgery, peroral endoscopic myotomy, pneumatic dilation, esophageal botulinum toxin injection within 6 months of HRM, opioid medication use, and esophageal stricture were excluded. Response to MRS was evaluated for complete versus impaired inhibition (esophageal body contractility with distal contractile integral [DCI] > 100 mmHg-sec-cm during MRS), presence of post-MRS contraction augmentation (DCI post MRS greater than single swallow mean DCI), and integrated relaxation pressure (IRP). Impaired deglutitive inhibition during MRS was significantly more frequent in DES compared to controls (89% vs. 0%, P < 0.001), and frequency was similar for DES with versus without concomitant EGJOO (100% vs. 82%, P = 0.48). The proportion of subjects with augmentation post MRS was similar for both groups (37% vs. 38%, P = 1.00), but mean DCI post MRS was higher in DES than controls (3360.0 vs. 1238.9, P = 0.009). IRP was lower during MRS compared to single swallows in all patients, and IRP during MRS was normal in 5 of 8 patients with DES and EGJOO. Our study suggests that impaired deglutitive inhibition during MRS is present in the majority of patients with DES regardless of whether they have concomitant EGJOO, and future studies should explore the usefulness of incorporating response to MRS in the diagnosis of DES.


Assuntos
Transtornos da Motilidade Esofágica , Espasmo Esofágico Difuso , Espasmo Esofágico Difuso/complicações , Junção Esofagogástrica , Humanos , Manometria , Estudos Retrospectivos
16.
Salud Publica Mex ; 63(1, ene-feb): 27-33, 2020 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-33984215

RESUMO

OBJECTIVE: The aim of this study is to evaluate the prevalence of T. pallidum infection markers in HIV-positive individuals receiving highly active antiretroviral therapy (ART) in the Mexico City HIV/AIDS Program, as well as predictive characteristics. METHODS: The reverse serologic algorithm method was used for the T. pallidum diagnosis, and applied to 2,383 HIV-positive individuals. Socio-demographic characteristics, sexual practices, previous syphilis diagnosis, and length of antiretroviral treatment, were evaluated. Variables significantly associated with syphilis markers were analyzed using a logistic regression model. RESULTS: Prevalence of "active or resolved" and "probable active" infection markers were 44.2% and 28.8%, respectively. Predictive factors were: Clinic Specialized Condesa Iztapalapa (CECI), previous syphilis diagnosis, MSM, and receptive sex practices. CONCLUSIONS: The prevalence of T. pallidum infection markers was the highest ever reported in Mexico, and was related to specific sexual practices as well as previous syphilis diagnosis, elements which require preventive measures in the Mexico City HIV/AIDS Program.


Assuntos
Infecções por HIV , Minorias Sexuais e de Gênero , Sífilis , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Homossexualidade Masculina , Humanos , Masculino , México/epidemiologia , Prevalência , Fatores de Risco , Sífilis/diagnóstico , Sífilis/epidemiologia
17.
Am J Dent ; 33(1): 25-28, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32056411

RESUMO

PURPOSE: To evaluate the effect of different electrical brushing systems on the surface roughness and wear profile of the enamel of sound primary teeth and teeth with induced white spot lesions. METHODS: 45 specimens were obtained from sound primary incisors, and the buccal surface was divided into four parts: sound enamel; enamel with white spot lesions; sound enamel with brushing; and enamel with white spot lesions and brushing. Specimens were randomly divided into three groups (n =15), according to the different brushing systems: Group 1 - Electric rotating toothbrush (Kid's Power Toothbrush - Oral B); Group 2 - Sonic electric toothbrush (Baby Sonic Toothbrush); and Group 3 - Manual toothbrush (Curaprox infantil) (control). The specimens were analyzed for surface roughness and wear profile. Data were analyzed by appropriate statistical tests, with a significance level of 5%. RESULTS: Regarding the surface roughness, no significant difference was observed between the groups. However, with respect to the wear profile, Group 1 caused significantly higher wear in the sound tooth enamel and in the presence of white spot lesions, in comparison to the other brushing systems (2 and 3) (P< 0.05), which did not cause wear. Manual and electric brushing (rotational and sonic) did not increase surface roughness in primary tooth enamel. However, the electric rotational brushing caused significant wear of the sound and demineralized enamel surface of primary teeth. CLINICAL SIGNIFICANCE: None of the toothbrushing systems tested caused significant alterations on sound dental enamel. However, rotational toothbrushing on enamel of primary teeth with white spot lesion increased wear.


Assuntos
Cárie Dentária , Escovação Dentária , Esmalte Dentário , Eletricidade , Humanos , Dente Decíduo
18.
Psychol Health Med ; 25(7): 879-886, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31661972

RESUMO

OBJECTIVE: To measure personal, medical and psychological positive and negative variables and to determine their relation with somatization in a sample of health sciences students. Subjects and methods: A total of 594 (34.43%) of the 1725 health science students of a public university answered an online survey with personal and medical information as well as the following psychological variables: phsychological well-being, five facets mindfulness questionnaire (FFMQ), life satisfaction, depression, and academic stress. Additionally, the presence of 11 somatic symptoms and 11 diseases during the last year was measured. Results: Most students were women (74.06%) who were 19.96 ± 4.28 years old. The global frequency of somatization in the previous year was 66.59%, and the presence of any measured disease 14.75%. With the multivariate analysis, self-acceptance was the most related variable (negatively) with somatization, followed by the sum of diseases, female gender, academic stress, smoking, and depression, in a model with an R-value of 0.634, self-acceptance was also the most related variable (negatively) with depression, being this last the most related variable with academic stress. Conclusions: After analyzing all variables considered in this study, self-acceptance was the most related variable with somatization and depression; this highlights the importance of strengthening the acceptance of the self in the student population in order to prevent these conditions and their consequences.


Assuntos
Depressão/psicologia , Atenção Plena , Autoimagem , Transtornos Somatoformes/psicologia , Estresse Psicológico/psicologia , Estudantes de Ciências da Saúde/psicologia , Adolescente , Adulto , Feminino , Humanos , Masculino , Universidades , Adulto Jovem
19.
Int J Paediatr Dent ; 30(1): 4-10, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31593607

RESUMO

AIM: To assess the efficacy of treatment using a minimally invasive approach (selective removal of carious tissue, restoration and preventive strategies) in immature permanent molars with MIH. DESIGN: A total of 281 patients, aged 6-8 years, with carious lesions (ICDAS 5-6), severe MIH, and incomplete root formation (one tooth/patient) were included. After clinical and radiographic examinations, selective carious tissue removal was performed, and the teeth received interim restoration for 6 months and were then restored with composite resin. Clinical and radiographic follow-up was undertaken, 6, 12, 18, and 24 months. A protocol of preventive oral care measures was established and repeated at each follow-up, including diet counselling, oral hygiene instruction, dental plaque control, and topical application of fluoride varnish containing CPP-ACP. All clinical procedures and evaluations were done by a single operator. RESULTS: Clinical and radiographic success was observed 24 months after treatment in 96.8% of the cases. Failures were due to enamel fracture at restoration margins, resulting in pulpitis and absence of apex closure. CONCLUSION: Selective removal of carious tissue, interim, and subsequently definitive restoration, combined with home and professional preventive measures, maintained marginal integrity of restorations in immature permanent molars with severe MIH, confirmed by pulp vitality and occurrence of apexogenesis.


Assuntos
Hipoplasia do Esmalte Dentário , Restauração Dentária Permanente , Criança , Resinas Compostas , Humanos , Estudos Longitudinais , Dente Molar
20.
Gac Med Mex ; 156(6): 559-569, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33877123

RESUMO

INTRODUCTION: Mexico has the highest 30-day mortality due to acute myocardial infarction (AMI), which constitutes one of the main causes of mortality in the country: 28 % versus 7.5 % on average for the Organization for Economic Co-operation and Development member countries. OBJECTIVE: To establish critical pathways and essential interinstitutional pharmacological strategies for the care of patients with AMI in Mexico, regardless of their socioeconomic status. METHOD: A group of experts in AMI diagnosis and treatment, representatives of the main public health institutions in Mexico, as well as the Mexican cardiology societies, the Mexican Red Cross and representatives of the Spanish Society of Cardiology, were brought together in order to optimize strategies based on the best existing evidence. RESULTS: An interinstitutional clinical practice guideline was designed for early diagnosis and timely treatment of AMI with ST-segment elevation, following the clinical horizon of the disease, with the proposal of algorithms that improve the prognosis of patients who attend the emergency services due to an AMI. CONCLUSION: With these clinical practice guidelines, the group of experts proposes to universalize AMI diagnosis and treatment, regardless of patient socioeconomic status. INTRODUCCIÓN: México tiene la mortalidad más alta a 30 días por infarto agudo de miocardio (IAM), el cual constituye una de las principales causas de mortalidad en el país: 28 % versus 7.5 % del promedio de los países de la Organización para la Cooperación y el Desarrollo Económicos. OBJETIVO: Establecer las rutas críticas y las estrategias farmacológicas esenciales interinstitucionales para la atención de los pacientes con IAM en México, independientemente de su condición socioeconómica. MÉTODO: Se reunió a un grupo de expertos en diagnóstico y tratamiento de IAM, representantes de las principales instituciones públicas de salud de México, así como las sociedades cardiológicas mexicanas, Cruz Roja Mexicana y representantes de la Sociedad Española de Cardiología con la finalidad de optimizar las estrategias con base en la mejor evidencia existente. RESULTADOS: Se diseñó una guía de práctica clínica interinstitucional para el diagnóstico temprano y tratamiento oportuno del IAM con elevación del segmento ST, siguiendo el horizonte clínico de la enfermedad, con la propuesta de algoritmos que mejoren el pronóstico de los pacientes que acuden por IAM a los servicios de urgencias. CONCLUSIÓN: Con la presente guía práctica, el grupo de expertos propone universalizar el diagnóstico y tratamiento en el IAM, independientemente de la condición socioeconómica del paciente.


Assuntos
Consenso , Infarto do Miocárdio com Supradesnível do Segmento ST/diagnóstico , Biomarcadores/sangue , COVID-19/prevenção & controle , Reabilitação Cardíaca , Causas de Morte , Eletrocardiografia , Humanos , México , Reperfusão Miocárdica/métodos , Intervenção Coronária Percutânea/métodos , Infarto do Miocárdio com Supradesnível do Segmento ST/sangue , Infarto do Miocárdio com Supradesnível do Segmento ST/reabilitação , Sociedades Médicas , Espanha , Terapia Trombolítica/métodos
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