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1.
Acta Neurochir (Wien) ; 166(1): 256, 2024 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-38850489

RESUMO

BACKGROUND: Cerebrospinal fluid leak after endoscopic skull base surgery remains a significant complication. Several investigators have suggested Hydroset cranioplasty to reduce leak rates. We investigated our early experience with Hydroset and compared the rate of nasal complications and CSF leak rates with case-controlled historic controls. METHODS: We queried a prospective database of patients undergoing first time endoscopic, endonasal resection of suprasellar meningiomas and craniopharyngiomas from 2015 to 2023. We compared cases closed with a gasket seal, Hydroset, and a nasoseptal flap with those closed with only a gasket seal and nasoseptal flap. Demographics, technical considerations and postoperative outcomes (SNOT-22) were compared. RESULTS: Seventy patients met inclusion criteria, twenty patients in the Hydroset group (meningioma n = 12; craniopharyngioma n = 8) and 50 control patients (meningioma n = 25; craniopharyngioma n = 25). CSF diversion was used in fewer Hydroset patients (75%, 15/20) compared with control group (94%, 47/50; p = 0.02). CSF leak was less frequent in the Hydroset than the control group (5% versus 12%, p = 0.38). One Hydroset patient required delayed nasal debridement. SNOT-22 responses demonstrated no significant difference in sinonasal complaints between groups (Hydroset average SNOT-22 score 22.45, control average SNOT-22 score 25.90; p = 0.58). CONCLUSIONS: We demonstrate that hydroxyapatite reconstruction leads to improved CSF leak control above that provided by the gasket-seal and nasoseptal flap, without significant associated morbidity as long as the cement is fully covered with vascularized tissue.


Assuntos
Vazamento de Líquido Cefalorraquidiano , Craniofaringioma , Meningioma , Base do Crânio , Retalhos Cirúrgicos , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Vazamento de Líquido Cefalorraquidiano/prevenção & controle , Vazamento de Líquido Cefalorraquidiano/etiologia , Vazamento de Líquido Cefalorraquidiano/cirurgia , Estudos de Casos e Controles , Base do Crânio/cirurgia , Craniofaringioma/cirurgia , Idoso , Meningioma/cirurgia , Adulto , Neoplasias Hipofisárias/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/etiologia , Resultado do Tratamento , Neoplasias da Base do Crânio/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Neoplasias Meníngeas/cirurgia , Septo Nasal/cirurgia
2.
Surg Radiol Anat ; 45(4): 389-400, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36853414

RESUMO

The middle fossa, cavernous sinus, and paraclival triangles consist of ten triangles. Their use in a surgical approach is vast; most are used as landmarks to access and identify other structures of surgical interest. Multiple labels, borders, and contents mentioned by different authors make understanding and reproduction challenging and confusing. This study aims to organize and clarify recent or most relevant publications and disclose our portrayal of the ten triangles using cadaveric dissection and simple and practical figures. Four middle fossa triangles, four cavernous sinus triangles, and two paraclival triangles were dissected and delineated in a cadaveric specimen. Drawings were simplified to eliminate confusion and evaluate the triangles effortlessly. Similarities and differences in triangle names, border limits, and contents are described in a precise form. The recognition of triangle landmarks allows for treating pathologies in a frequently distorted anatomy or challenging to access structure. That is why an accurate knowledge of the surgical anatomy should be mastered, and a safe approach should be accomplished.


Assuntos
Seio Cavernoso , Humanos , Seio Cavernoso/cirurgia , Seio Cavernoso/anatomia & histologia , Procedimentos Neurocirúrgicos , Dissecação , Cadáver
3.
Mol Psychiatry ; 26(7): 3586-3613, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33727673

RESUMO

E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploinsufficient Cul3 mouse model using CRISPR/Cas9 genome engineering. Cul3 mutant mice exhibited social and cognitive deficits and hyperactive behavior. Brain MRI found decreased volume of cortical regions and changes in many other brain regions of Cul3 mutant mice starting from early postnatal development. Spatiotemporal transcriptomic and proteomic profiling of embryonic, early postnatal and adult brain implicated neurogenesis and cytoskeletal defects as key drivers of Cul3 functional impact. Specifically, dendritic growth, filamentous actin puncta, and spontaneous network activity were reduced in Cul3 mutant mice. Inhibition of small GTPase RhoA, a molecular substrate of Cul3 ligase, rescued dendrite length and network activity phenotypes. Our study identified defects in neuronal cytoskeleton and Rho signaling as the primary targets of Cul3 mutation during brain development.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Animais , Transtorno do Espectro Autista/genética , Proteínas Culina/genética , Citoesqueleto , Células Germinativas , Haploinsuficiência/genética , Camundongos , Neurogênese/genética , Proteômica
4.
Environ Health ; 21(1): 137, 2022 12 24.
Artigo em Inglês | MEDLINE | ID: mdl-36564760

RESUMO

OBJECTIVE: To compare estimates of spatiotemporal variations of surface PM2.5 concentrations in Colombia from 2014 to 2019 derived from two global air quality models, as well as to quantify the avoidable deaths attributable to the long-term exposure to concentrations above the current and projected Colombian standard for PM2.5 annual mean at municipality level. METHODS: We retrieved PM2.5 concentrations at the surface level from the ACAG and CAMSRA global air quality models for all 1,122 municipalities, and compare 28 of them with available concentrations from monitor stations. Annual mortality data 2014-2019 by municipality of residence and pooled effect measures for total, natural and specific causes of mortality were used to calculate the number of annual avoidable deaths and years of potential life lost (YPLL) related to the excess of PM2.5 concentration over the current mean annual national standard of 25 µg/m3 and projected standard of 15 µg/m3. RESULTS: Compared to surface data from 28 municipalities with monitoring stations in 2019, ACAG and CAMSRA models under or overestimated annual mean PM2.5 concentrations. Estimations from ACAG model had a mean bias 1,7 µg/m3 compared to a mean bias of 4,7 µg/m3 from CAMSRA model. Using ACAG model, estimations of total nationally attributable deaths to PM2.5 exposure over 25 and 15 µg/m3 were 142 and 34,341, respectively. Cardiopulmonary diseases accounted for most of the attributable deaths due to PM2.5 excess of exposure (38%). Estimates of YPLL due to all-cause mortality for exceeding the national standard of 25 µg/m3 were 2,381 years. CONCLUSION: Comparison of two global air quality models for estimating surface PM2.5 concentrations during 2014-2019 at municipality scale in Colombia showed important differences. Avoidable deaths estimations represent the total number of deaths that could be avoided if the current and projected national standard for PM2.5 annual mean have been met, and show the health-benefit of the implementation of more restrictive air quality standards.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Humanos , Poluentes Atmosféricos/efeitos adversos , Poluentes Atmosféricos/análise , Material Particulado/efeitos adversos , Material Particulado/análise , Colômbia/epidemiologia , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , Cidades , Exposição Ambiental/efeitos adversos , Mortalidade
5.
Sensors (Basel) ; 21(18)2021 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-34577485

RESUMO

Handheld Raman and portable FT-IR spectroscopy devices were evaluated for fast and non-invasive determination of methanol and ethanol levels in Peruvian Pisco. Commercial Peruvian Pisco (n = 171) samples were kindly provided by the UNALM Alliance for Research in Alcohol and its Derivatives (Lima, Peru) and supplemented by purchases at grocery and online stores. Pisco spectra were collected on handheld Raman spectrometers equipped with either a 1064 nm or a 785 nm excitation laser and a portable infrared unit operating in transmission mode. The alcohol levels were determined by GC-MS. Calibration models used partial least-squares regression (PLSR) to develop prediction algorithms. GC-MS data revealed that 10% of Pisco samples had ethanol levels lower than 38%, indicating possible water dilution. Methanol levels ranged from 10 to 130 mg/100 mL, well below the maximum levels allowed for fruit brandies. Handheld Raman equipped with a 1064 nm excitation laser gave the best results for determining ethanol (SEP = 1.2%; RPre = 0.95) and methanol (SEP = 1.8 mg/100 mL; RPre = 0.93). Randomly selected Pisco samples were spiked with methanol (75 to 2800 mg/100 mL), and their Raman spectra were collected through their genuine commercial bottles. The prediction models gave an excellent performance (SEP = 98 mg/100 mL; RPre = 0.97), allowing for the non-destructive and non-contact determination of methanol and ethanol concentrations without opening the bottles.


Assuntos
Metanol , Vitis , Etanol , Espectroscopia de Infravermelho com Transformada de Fourier , Vibração
6.
Trop Med Int Health ; 23(11): 1231-1241, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30176107

RESUMO

OBJECTIVE: To estimate the age-specific incidence of symptomatic dengue and chikungunya in Colombia. METHOD: A passive facility-based fever surveillance study was conducted among individuals with undifferentiated fever. Confirmatory diagnostics included serological and molecular tests in paired samples, and surveillance's underreporting was assessed using capture-recapture methods. RESULTS: Of 839 febrile participants 686 completed the study. There were 33.2% (295/839) dengue infections (51% primary infections), and 35.9% (191/532) of negative dengue cases there were chikungunya cases. On average, dengue cases were younger (median = 18 years) than chikungunya cases (median = 25 years). Thrombocytopaenia and abdominal pain were the main dengue predictors, while presence of rash was the main predictor for chikungunya diagnosis. Underreporting of dengue was 31%; the estimated expansion factors indicate an underreporting rate of dengue cases of threefold for all cases and of almost sixfold for inpatients. CONCLUSIONS: These findings highlight the ongoing coexistence of both arboviruses, a distinct clinical profile of each condition in the study area that could be used by clinicians to generate a differential diagnosis, and the presence of underreporting, mostly among hospitalised cases.


Assuntos
Febre de Chikungunya/diagnóstico , Febre de Chikungunya/epidemiologia , Dengue/diagnóstico , Dengue/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Colômbia/epidemiologia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Vigilância da População , Adulto Jovem
7.
Br J Nutr ; 120(7): 787-796, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30105961

RESUMO

PUFA might modulate inflammatory responses involved in the development of severe dengue. We aimed to examine whether serum PUFA concentrations in patients diagnosed with dengue fever (DF) were related to the risk of progression to dengue haemorrhagic fever/dengue shock syndrome (DHF/DSS). A secondary aim was to assess correlations between fatty acids (FA) and inflammatory biomarkers in patients with DF. We conducted a prospective case-control study nested within a cohort of patients who were diagnosed with DF and followed during the acute episode. We compared the distribution of individual FA (% of total FA) at onset of fever between 109 cases who progressed to DHF/DSS and 235 DF non-progressing controls using unconditional logistic regression. We estimated correlations between baseline FA and cytokine concentrations and compared FA concentrations between the acute episode and >1 year post-convalescence in a subgroup. DHA was positively related to progression to DHF/DSS (multivariable adjusted OR (AOR) for DHA in quintile 5 v. 1=5·34, 95 % CI 2·03, 14·1; P trend=0·007). Dihomo-γ-linolenic acid (DGLA) was inversely associated with progression (AOR for quintile 5 v. 1=0·30, 95 % CI 0·13, 0·69; P trend=0·007). Pentadecanoic acid concentrations were inversely related to DHF/DSS. Correlations of PUFA with cytokines at baseline were low. PUFA were lower during the acute episode than in a disease-free period. In conclusion, serum DHA in patients with DF predicts higher odds of progression to DHF/DSS whereas DGLA and pentadecanoic acid predict lower odds.


Assuntos
Ácidos Graxos/sangue , Febres Hemorrágicas Virais/sangue , Dengue Grave/sangue , Ácido 8,11,14-Eicosatrienoico/sangue , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Citocinas/sangue , Dengue , Progressão da Doença , Ácidos Docosa-Hexaenoicos/sangue , Feminino , Febre , Humanos , Inflamação/sangue , Modelos Logísticos , Masculino , Estado Nutricional , Razão de Chances , Estudos Prospectivos , Índice de Gravidade de Doença , Adulto Jovem
8.
BMC Public Health ; 18(1): 656, 2018 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-29793453

RESUMO

BACKGROUND: We evaluated whether outbreaks of Zika virus (ZIKV) infection, newborn microcephaly, and Guillain-Barré syndrome (GBS) in Latin America may be detected through current surveillance systems, and how cases detected through surveillance may increase health care burden. METHODS: We estimated the sensitivity and specificity of surveillance case definitions using published data. We assumed a 10% ZIKV infection risk during a non-outbreak period and hypothetical increases in risk during an outbreak period. We used sensitivity and specificity estimates to correct for non-differential misclassification, and calculated a misclassification-corrected relative risk comparing both periods. To identify the smallest hypothetical increase in risk resulting in a detectable outbreak we compared the misclassification-corrected relative risk to the relative risk corresponding to the upper limit of the endemic channel (mean + 2 SD). We also estimated the proportion of false positive cases detected during the outbreak. We followed the same approach for microcephaly and GBS, but assumed the risk of ZIKV infection doubled during the outbreak, and ZIKV infection increased the risk of both diseases. RESULTS: ZIKV infection outbreaks were not detectable through non-serological surveillance. Outbreaks were detectable through serologic surveillance if infection risk increased by at least 10%, but more than 50% of all cases were false positive. Outbreaks of severe microcephaly were detected if ZIKV infection increased prevalence of this condition by at least 24.0 times. When ZIKV infection did not increase the prevalence of severe microcephaly, 34.7 to 82.5% of all cases were false positive, depending on diagnostic accuracy. GBS outbreaks were detected if ZIKV infection increased the GBS risk by at least seven times. For optimal GBS diagnosis accuracy, the proportion of false positive cases ranged from 29 to 54% and from 45 to 56% depending on the incidence of GBS mimics. CONCLUSIONS: Current surveillance systems have a low probability of detecting outbreaks of ZIKV infection, severe microcephaly, and GBS, and could result in significant increases in health care burden, due to the detection of large numbers of false positive cases. In view of these limitations, Latin American countries should consider alternative options for surveillance.


Assuntos
Surtos de Doenças/estatística & dados numéricos , Síndrome de Guillain-Barré/epidemiologia , Vigilância em Saúde Pública , Infecção por Zika virus/diagnóstico , Síndrome de Guillain-Barré/diagnóstico , Humanos , Incidência , Recém-Nascido , América Latina/epidemiologia , Microcefalia/epidemiologia , Prevalência , Zika virus/imunologia , Infecção por Zika virus/epidemiologia
9.
Adv Exp Med Biol ; 1072: 157-161, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30178339

RESUMO

BACKGROUND: In preterm neonates, the cardiovascular and cerebral vascular control is immature, making the brain vulnerable to an increased incidence of hypoxic and hyperoxic episodes. AIM: The aim of the study was to apply the recently developed multiple Einstein's cross wavelet analysis (MECWA) to quantify the coupling of fluctuations of peripherally measured arterial oxygen saturation (SpO2), cerebral tissue oxygen saturation (StO2) and heart rate (HR). METHODS: Two long-term measurements on preterm neonates with a gestational age at birth of 26.4 and 26.8 weeks and a postnatal age of 2.1 and 3.9 weeks were analyzed. MECWA was applied to SpO2, StO2 and HR. RESULTS: MECWA showed that the fluctuations of SpO2, StO2 and HR were synchronized in the low-frequency range with periods of ~1 h and ~0.5 h. The amplitudes of the synchronization frequencies were dependent on the individual neonate. DISCUSSION: MECWA is a useful novel tool to assess the coupling of physiological signals. The parameters determined by MECWA seem to be related to the chronobiological processes, as well as constant regulations of the cardiovascular and cerebral perfusion state. CONCLUSION: MECWA was able to identify long-term synchronization of the cardiovascular and cerebral perfusion state in preterm neonates with periods of ~1 h and ~0.5 h.


Assuntos
Encéfalo/irrigação sanguínea , Hemodinâmica/fisiologia , Recém-Nascido Prematuro/fisiologia , Oxigênio/sangue , Análise de Ondaletas , Circulação Cerebrovascular/fisiologia , Feminino , Frequência Cardíaca/fisiologia , Humanos , Recém-Nascido , Masculino , Oximetria/métodos , Consumo de Oxigênio/fisiologia , Espectroscopia de Luz Próxima ao Infravermelho/métodos
10.
BMC Infect Dis ; 17(1): 480, 2017 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-28693483

RESUMO

BACKGROUND: Dengue has been prevalent in Colombia with high risk of outbreaks in various locations. While the prediction of dengue epidemics will bring significant benefits to the society, accurate forecasts have been a challenge. Given competing health demands in Colombia, it is critical to consider the effective use of the limited healthcare resources by identifying high risk areas for dengue fever. METHODS: The Climate Risk Factor (CRF) index was constructed based upon temperature, precipitation, and humidity. Considering the conditions necessary for vector survival and transmission behavior, elevation and population density were taken into account. An Early Warning Signal (EWS) model was developed by estimating the elasticity of the climate risk factor function to detect dengue epidemics. The climate risk factor index was further estimated at the smaller geographical unit (5 km by 5 km resolution) to identify populations at high risk. RESULTS: From January 2007 to December 2015, the Early Warning Signal model successfully detected 75% of the total number of outbreaks 1 ~ 5 months ahead of time, 12.5% in the same month, and missed 12.5% of all outbreaks. The climate risk factors showed that populations at high risk are concentrated in the Western part of Colombia where more suitable climate conditions for vector mosquitoes and the high population level were observed compared to the East. CONCLUSIONS: This study concludes that it is possible to detect dengue outbreaks ahead of time and identify populations at high risk for various disease prevention activities based upon observed climate and non-climate information. The study outcomes can be used to minimize potential societal losses by prioritizing limited healthcare services and resources, as well as by conducting vector control activities prior to experiencing epidemics.


Assuntos
Dengue/epidemiologia , Animais , Clima , Colômbia/epidemiologia , Culicidae , Surtos de Doenças , Humanos , Umidade , Densidade Demográfica , Fatores de Risco , Temperatura , Tempo (Meteorologia)
11.
Am J Hum Biol ; 29(1)2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27427286

RESUMO

OBJECTIVE: To determine sociodemographic factors associated with handgrip (HG) strength in a representative sample of children and adolescents from a middle income country. METHODS: We evaluated youth between the ages of 8 and 17 from a representative sample of individuals from the Department of Santander, Colombia. Anthropometric measures, HG strength, and self-reported physical activity were assessed, and parents/guardians completed sociodemographic questionnairres. Multinomial logistic regression models were used to estimate the association between sociodemographic and anthropometric characteristics and tertiles of relative HG strength. We also produced centile data for raw HG strength using quantile regression. RESULTS: 1,691 young people were evaluated. HG strength increased with age, and was higher in males than females in all age groups. Lower HG strength was associated with indicators of higher socioeconomic status, such as living in an urban area, residence in higher social strata neighborhoods, parent/guardian with secondary education or higher, higher household income, and membership in health insurance schemes. In addition, low HG strength was associated with lower physical activity levels and higher waist-to-hip ratio. In a fully adjusted regression model, all factors remained significant except for health insurance, household income, and physical activity level. CONCLUSIONS: While age and gender specific HG strength values were substantially lower than contemporary data from high income countries, we found that within this middle income population indicators of higher socioeconomic status were associated with lower HG strength. This analysis also suggests that in countries undergoing rapid nutrition transition, improvements in socioeconomic conditions may be accompanied by reduction in muscle strength.


Assuntos
Antropometria , Força da Mão , Fatores Socioeconômicos , Adolescente , Fatores Etários , Criança , Colômbia , Exercício Físico , Feminino , Humanos , Modelos Logísticos , Masculino , Relação Cintura-Quadril
12.
Diabetes Metab Res Rev ; 30(8): 777-83, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24845759

RESUMO

BACKGROUND: Individuals with type 1 diabetes may have low IGF-1, related to insulinopenia and insulin resistance. There are few longitudinal studies of IGF-1 levels to establish its pattern in type 1 diabetes with duration and age, and to examine whether IGF-1 tracks within individuals over time. We examine age and duration trends, and the relationship of IGF-1 to gender, glycaemic control, insulin level and other factors. METHODS: Participants in the Wisconsin Diabetes Registry Study, an incident cohort study of type 1 diabetes diagnosed May 1987-April 1992, were followed for up to 18 years with IGF-1 samples up to age 45 for women and age 37 for men. RESULTS: IGF-1 is lower with type 1 diabetes than in normative samples. Although, the pattern across age resembles that in normative samples with a peak in adolescence and slow decline after age 20, the adolescent peak is delayed for women with type 1 diabetes. There was low to moderate tracking of IGF-1 within an individual. Higher insulin dose was associated with higher IGF-1 as was puberty, and female gender. Adjusted for these factors, IGF-1 declined rapidly across early diabetes duration. Lower HbA1c was most strongly related to higher IGF-1 at Tanner stages 1 and 2. CONCLUSIONS: IGF-1 is low in type 1 diabetes, with a delayed adolescent peak in women and is especially influenced by glycaemic control in early and pre-adolescence. High variability within an individual is likely a challenge in investigating associations between IGF-1 and long-term outcomes, and may explain contradictory findings.


Assuntos
Envelhecimento , Complicações do Diabetes/prevenção & controle , Diabetes Mellitus Tipo 1/tratamento farmacológico , Resistência à Insulina , Fator de Crescimento Insulin-Like I/análise , Insulina/uso terapêutico , Regulação para Cima/efeitos dos fármacos , Adolescente , Adulto , Criança , Estudos de Coortes , Complicações do Diabetes/epidemiologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/fisiopatologia , Progressão da Doença , Regulação para Baixo , Feminino , Humanos , Hipoglicemiantes/sangue , Hipoglicemiantes/uso terapêutico , Insulina/sangue , Estudos Longitudinais , Masculino , Estudos Prospectivos , Sistema de Registros , Fatores de Risco , Caracteres Sexuais , Wisconsin/epidemiologia , Adulto Jovem
13.
Front Ophthalmol (Lausanne) ; 4: 1362350, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38984127

RESUMO

Introduction: Cataract is the leading cause of blindness among the elderly worldwide. Twin and family studies support an important role for genetic factors in cataract susceptibility with heritability estimates up to 58%. To date, 55 loci for cataract have been identified by genome-wide association studies (GWAS), however, much work remains to identify the causal genes. Here, we conducted a transcriptome-wide association study (TWAS) of cataract to prioritize causal genes and identify novel ones, and examine the impact of their expression. Methods: We performed tissue-specific and multi-tissue TWAS analyses to assess associations between imputed gene expression from 54 tissues (including 49 from the Genotype Tissue Expression (GTEx) Project v8) with cataract using FUSION software. Meta-analyzed GWAS summary statistics from 59,944 cataract cases and 478,571 controls, all of European ancestry and from two cohorts (GERA and UK Biobank) were used. We then examined the expression of the novel genes in the lens tissue using the iSyTE database. Results: Across tissue-specific and multi-tissue analyses, we identified 99 genes for which genetically predicted gene expression was associated with cataract after correcting for multiple testing. Of these 99 genes, 20 (AC007773.1, ANKH, ASIP, ATP13A2, CAPZB, CEP95, COQ6, CREB1, CROCC, DDX5, EFEMP1, EIF2S2, ESRRB, GOSR2, HERC4, INSRR, NIPSNAP2, PICALM, SENP3, and SH3YL1) did not overlap with previously reported cataract-associated loci. Tissue-specific analysis identified 202 significant gene-tissue associations for cataract, of which 166 (82.2%), representing 9 unique genes, were attributed to the previously reported 11q13.3 locus. Tissue-enrichment analysis revealed that gastrointestinal tissues represented one of the highest proportions of the Bonferroni-significant gene-tissue associations (21.3%). Moreover, this gastrointestinal tissue type was the only anatomical category significantly enriched in our results, after correcting for the number of tissue donors and imputable genes for each reference panel. Finally, most of the novel cataract genes (e.g., Capzb) were robustly expressed in iSyTE lens data. Discussion: Our results provide evidence of the utility of imputation-based TWAS approaches to characterize known GWAS risk loci and identify novel candidate genes that may increase our understanding of cataract etiology. Our findings also highlight the fact that expression of genes associated with cataract susceptibility is not necessarily restricted to lens tissue.

14.
Clin Neurol Neurosurg ; 237: 108172, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38359520

RESUMO

Pituitary adenomas are slow-growing, benign intracranial tumors that can be characterized as functional (hormone-producing) or non-functional (non-hormone producing). Symptoms therefore arise from either endocrinologic abnormalities or mass effect on surrounding structures resulting in symptoms such as visual impairment and headache. In the last two decades, technical innovations have shifted surgical resection of such adenomas to endoscopic endonasal approaches. In this review, we describe the evolving approach to pituitary adenomas in the modern endoscopic era, including preoperative multidisciplinary review, relevant surgical anatomy, and a description of the technical nuances of standard and expanded approaches to the anterior skull base.


Assuntos
Adenoma , Neoplasias Encefálicas , Neoplasias Hipofisárias , Humanos , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgia , Endoscopia , Adenoma/diagnóstico por imagem , Adenoma/cirurgia , Cefaleia
15.
Artigo em Inglês | MEDLINE | ID: mdl-38717138

RESUMO

Transorbital neuroendoscopic surgery (TONES) is a minimally invasive approach, providing excellent access to extradural pathology of the sphenoid wing, orbital apex, Meckel's cave, and lateral cavernous sinus.1-10 Few cases of intradural pathology, such as gliomas or epileptic foci of the temporal lobe, have been described, apart from cadaveric anatomic studies.11-13 In this video, we present the case of a 63-year-old man with first time seizure. MRI demonstrated a fluid-attenuated inversion recovery hyperintense, noncontrast enhancing medial temporal lobe lesion consistent with low grade glioma. While frontotemporal craniotomy is the standard approach for this lesion, the TONES approach detailed in the video (the patient consented to the procedure and to the publication of his image) provided excellent access to the lesion, which minimized unnecessary trauma or removal of the lateral temporal lobe during the approach.4,14,15 The dura was closed primarily, overlayed with abdominal fat and fibrin glue, and a lumbar drain was left in place for 24 hours. The TONES approach avoided not only temporal lobe violation but also temporalis muscle disruption and any sort of external bone manipulation, which expedited the patient's recovery.16 The patient's eyelid incision was barely visible as early as postoperative day 7 with minimal ecchymosis. Postoperative MRI demonstrated a gross total resection. Pathology was consistent with a central nervous system World Health Organization grade 1 dysembryoplastic neuroepithelial tumor, a low-grade lesion with low risk of recurrence.17,18.

16.
Indian J Thorac Cardiovasc Surg ; 40(Suppl 1): 138-149, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38827540

RESUMO

Introduction: Infections in cardiac implantable electronic devices (CIED) are increasing over time and associated with substantially mortality and healthcare costs. The best approach is the complete removal of the system by transvenous lead extraction (TLE). However, when leads are more than 10 years old, this technique requires considerable expertise and failures with the result of abandoned leads or serious complications may occur. The aim of this study is to describe our experience using virtual and mixed reality in the preoperative planning of complex cases. Patients and methods: Consecutive patients from a referral centre with CIED infections in which TLE was judged difficult. Synchronized computed tomography (CT) scan images were processed and transferred to a fully immersive virtual reality room and also to the operative room (mixed reality) for better guidance during the extracting procedure. Results: Ten patients (seven with local and three with systemic infections) were preoperative evaluated. Processed images and virtual reality showed intense adherences of the leads to the veins, right ventricle, and right atrium endocardium and between them that preclude a difficult extraction and required a carefully planning and sometimes a different technical approach. The anticipated difficulty was confirmed by the higher times of fluoroscopy. All leads were extracted and no complications were registered. Conclusions: Preoperative planning is essential for evaluation of TLE difficulty and prevention of unexpected situations. Virtual reality seems an estimable aid for operators in planning difficult cases and also an excellent tool for teaching. Supplementary information: The online version contains supplementary material available at 10.1007/s12055-023-01663-9.

18.
JMIR Public Health Surveill ; 10: e54281, 2024 07 23.
Artigo em Inglês | MEDLINE | ID: mdl-39042429

RESUMO

Infectious disease (ID) cohorts are key to advancing public health surveillance, public policies, and pandemic responses. Unfortunately, ID cohorts often lack funding to store and share clinical-epidemiological (CE) data and high-dimensional laboratory (HDL) data long term, which is evident when the link between these data elements is not kept up to date. This becomes particularly apparent when smaller cohorts fail to successfully address the initial scientific objectives due to limited case numbers, which also limits the potential to pool these studies to monitor long-term cross-disease interactions within and across populations. CE data from 9 arbovirus (arthropod-borne viruses) cohorts in Latin America were retrospectively harmonized using the Maelstrom Research methodology and standardized to Clinical Data Interchange Standards Consortium (CDISC). We created a harmonized and standardized meta-cohort that contains CE and HDL data from 9 arbovirus studies from Latin America. To facilitate advancements in cross-population inference and reuse of cohort data, the Reconciliation of Cohort Data for Infectious Diseases (ReCoDID) Consortium harmonized and standardized CE and HDL from 9 arbovirus cohorts into 1 meta-cohort. Interested parties will be able to access data dictionaries that include information on variables across the data sets via Bio Studies. After consultation with each cohort, linked harmonized and curated human cohort data (CE and HDL) will be made accessible through the European Genome-phenome Archive platform to data users after their requests are evaluated by the ReCoDID Data Access Committee. This meta-cohort can facilitate various joint research projects (eg, on immunological interactions between sequential flavivirus infections and for the evaluation of potential biomarkers for severe arboviral disease).


Assuntos
Infecções por Arbovirus , Humanos , Infecções por Arbovirus/epidemiologia , Estudos de Coortes , América Latina/epidemiologia , Masculino , Feminino , Criança , Arbovírus , Estudos Retrospectivos , Adolescente , Pré-Escolar , Adulto
19.
Environ Sci Pollut Res Int ; 31(2): 3207-3221, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38087152

RESUMO

Rapidly urbanizing cities in Latin America experience high levels of air pollution which are known risk factors for population health. However, the estimates of long-term exposure to air pollution are scarce in the region. We developed intraurban land use regression (LUR) models to map long-term exposure to fine particulate matter (PM2.5) and nitrogen dioxide (NO2) in the five largest cities in Colombia. We conducted air pollution measurement campaigns using gravimetric PM2.5 and passive NO2 sensors for 2 weeks during both the dry and rainy seasons in 2021 in the cities of Barranquilla, Bucaramanga, Bogotá, Cali, and Medellín, and combined these data with geospatial and meteorological variables. Annual models were developed using multivariable spatial regression models. The city annual PM2.5 mean concentrations measured ranged between 12.32 and 15.99 µg/m3 while NO2 concentrations ranged between 24.92 and 49.15 µg/m3. The PM2.5 annual models explained 82% of the variance (R2) in Medellín, 77% in Bucaramanga, 73% in Barranquilla, 70% in Cali, and 44% in Bogotá. The NO2 models explained 65% of the variance in Bucaramanga, 57% in Medellín, 44% in Cali, 40% in Bogotá, and 30% in Barranquilla. Most of the predictor variables included in the models were a combination of specific land use characteristics and roadway variables. Cross-validation suggests that PM2.5 outperformed NO2 models. The developed models can be used as exposure estimate in epidemiological studies, as input in hybrid models to improve personal exposure assessment, and for policy evaluation.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Poluentes Atmosféricos/análise , Cidades , Dióxido de Nitrogênio/análise , Colômbia , Monitoramento Ambiental , Poluição do Ar/análise , Material Particulado/análise , Exposição Ambiental
20.
Sci Rep ; 13(1): 21639, 2023 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-38062132

RESUMO

It is uncertain whether hydrocolloid dressings, a more costly intervention than offering standard care with petrolatum, is superior to prevent pressure ulcers among hospitalized high-risk adults. Randomized, parallel-group, open-label, superiority trial with an active control group, blinded for investigators, event validators, and analysts (December 1, 2015 to December 12, 2017). Eligible patients were ≥ 18 years of age with intact skin judged as high-risk for skin ulcers (Braden scale), admitted to surgical or medical wards of two tertiary-level hospitals. Participants were randomized (1:1) to protection with hydrocolloid dressings or petrolatum. The primary outcome was the first occurrence of pressure ulcers (with post-injury photographs adjudicated by three judges) under intention-to-treat analysis. Based on prior cost analysis, and the available resources (assumed incidence of 6 ulcers/1000 patient-days in controls), inclusion of up to 1500 participants allowed to surpass a one-sided superiority threshold > 5% based on a target efficacy > 40% for dressings. We planned an economic analysis using a decision tree model based on the effectiveness of the study results from a perspective of the third payer of health care. After inclusion of 689 patients (69 events), the trial was stopped for futility after a planned interim analysis (conditional power < 0.1 for all scenarios if the trial was completed). Pressure ulcers had occurred in 34 (10.2%) patients in the intervention group [9.6 per 1000 patient-days] and 35 (9.9%) participants in the control group [7.9 per 1000 patient-days], HR = 1.07 [95% CI 0.67 to 1.71]. The estimated incremental cost for dressings (a dominated strategy) was USD 52.11 per patient. Using hydrocolloid dressings was found similar to petrolatum for preventing pressure ulcers among hospitalized high-risk patients. As it conveys additional costs, and in this study was unlikely to demonstrate enough superiority, this strategy did not overcome conventional skin care.Trial registration: ClinicalTrials.gov identifier (NCT number): NCT02565745 registered on December 1, 2015.


Assuntos
Curativos Hidrocoloides , Úlcera por Pressão , Adulto , Humanos , Úlcera por Pressão/epidemiologia , Úlcera por Pressão/etiologia , Úlcera por Pressão/prevenção & controle , Pacientes , Vaselina
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