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1.
JACC Case Rep ; 29(5): 102194, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38464795

RESUMO

Left ventricular assist devices (LVADs) are used in end-stage heart failure. Inadequate positioning of the inflow cannula may necessitate replacement of the LVAD. We present the successful use of a three-dimensional printed model used to optimize surgical planning and allow for simulation and training for the LVAD exchange procedure.

2.
Glob Heart ; 18(1): 41, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37547170

RESUMO

Dengue is a viral disease transmitted by the bite of a female arthropod, prevalent primarily in tropical and subtropical regions. Its manifestations include asymptomatic infections, dengue fever, and a severe form called hemorrhagic dengue or dengue shock syndrome. Atypical manifestations can also occur, called expanded dengue syndrome. We describe the case of a 43-year-old man with an unusual presentation of dengue, demonstrating a workup suggestive of myocardial and pericardial damage. Symptoms and markers indicative of cardiac compromise improved after five days on anti-inflammatory treatment. Dengue myocarditis is considered an uncommon complication of dengue, although its reported incidence is likely an underestimation. In general, most cases of dengue myocarditis are self-limited, with only a minority at risk of progressing to heart failure. In order to improve recognition and prevent progression, healthcare providers should maintain a high degree of suspicion regarding potential cardiac complications in patients with dengue.


Assuntos
Dengue , Cardiopatias , Insuficiência Cardíaca , Miocardite , Dengue Grave , Masculino , Humanos , Feminino , Adulto , Miocardite/diagnóstico , Miocardite/etiologia , Dengue/complicações , Dengue/diagnóstico , Dengue Grave/complicações , Dengue Grave/diagnóstico
3.
Int J Mol Epidemiol Genet ; 14(1): 11-18, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37214589

RESUMO

PURPOSE: Childhood cataracts and strabismus are among the most common causes of visual impairment in children worldwide, and prompt diagnosis and correction can significantly reduce disease burden. In certain regions, including the Eastern Caribbean, access to adequate treatment can be limited and epidemiological data scarce. This study aims to analyze the epidemiological data of pediatric strabismus and cataract cases in St. Vincent and the Grenadines. METHODS: The setting of the study is a clinical practice including 201 patients between the age of 0 to 19 who received care with World Pediatric Project (WPP). Factors analyzed include patient age, sex, and type of cataract or strabismus. The findings were compared to publicly available demographic information. RESULTS: The cases were divided into cataract (n=51), strabismus (n=134), and both strabismus and cataract (n=16). Mean ages (years) were 5.96, 5.54, and 4.50, respectively. The most frequent type of cataract and strabismus were congenital (n=25) and esotropia (n=95), respectively. The highest annual cumulative incidence was 31 and 49 cases per 100,000 people for cataracts and strabismus, respectively. CONCLUSION: This study provides regional epidemiological data on pediatric strabismus and cataracts. Further studies can expand the patient population by increasing collaboration with local providers. Ultimately, these findings can offer a basis for which additional epidemiological studies can be performed and help guide public health efforts to prevent visual impairment in St. Vincent and the Grenadines.

4.
Ophthalmic Genet ; 43(5): 703-708, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35765812

RESUMO

BACKGROUND: Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of fundoscopic abnormalities. In patients suspected of having OMD based on unexplained central vision loss and/or photophobia, changes may be detected with spectral-domain optical coherence tomography. Subsequently, the diagnosis can be confirmed with genetic analysis.We report a case of an 18-year-old White male whose suspected diagnosis of OMD was confirmed by molecular testing. We conducted an extensive review of the literature of previously reported patients with OMD to date. METHODS: A PubMed search of "RP1L1 and Occult Macular Dystrophy" revealed 34 papers. There were 225 individuals with genetically confirmed, symptomatic OMD; an additional 15 had a confirmed mutation but were asymptomatic and discovered incidentally. RESULTS: Our patient presented with a 10-year history of unexplained loss of central visual acuity and photophobia. Genetic analysis confirmed the presence of a p.R45W substitution on the RP1L1 gene, the most common pathologic mutation in OMD. CONCLUSIONS: Due to the lack of appreciable fundoscopic changes, correct identification of the disease can be difficult. Incomplete penetrance has been associated with the condition, and the age of onset is highly variable. Much of the research discussing OMD has come from Eastern Asia, but whether this is due to a heightened awareness and screening protocols, or increased incidence is unclear. Additional research and increased awareness globally will help with more timely and accurate diagnoses.


Assuntos
Degeneração Macular , Distrofias Retinianas , Adolescente , Eletrorretinografia , Proteínas do Olho/genética , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/genética , Degeneração Macular/patologia , Masculino , Mutação , Fotofobia , Tomografia de Coerência Óptica , Transtornos da Visão
5.
Nat Commun ; 12(1): 495, 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33479215

RESUMO

Myomerger is a muscle-specific membrane protein involved in formation of multinucleated muscle cells by mediating the transition from the early hemifusion stage to complete fusion. Here, we considered the physical mechanism of the Myomerger action based on the hypothesis that Myomerger shifts the spontaneous curvature of the outer membrane leaflets to more positive values. We predicted, theoretically, that Myomerger generates the outer leaflet elastic stresses, which propagate into the hemifusion diaphragm and accelerate the fusion pore formation. We showed that Myomerger ectodomain indeed generates positive spontaneous curvature of lipid monolayers. We substantiated the mechanism by experiments on myoblast fusion and influenza hemagglutinin-mediated cell fusion. In both processes, the effects of Myomerger ectodomain were strikingly similar to those of lysophosphatidylcholine known to generate a positive spontaneous curvature of lipid monolayers. The control of post-hemifusion stages by shifting the spontaneous curvature of proximal membrane monolayers may be utilized in diverse fusion processes.


Assuntos
Membrana Celular/metabolismo , Fusão de Membrana , Proteínas de Membrana/metabolismo , Mioblastos/metabolismo , Algoritmos , Animais , Fusão Celular , Linhagem Celular , Bicamadas Lipídicas/metabolismo , Lipídeos de Membrana/metabolismo , Proteínas de Membrana/genética , Camundongos , Camundongos Knockout , Modelos Teóricos , Mioblastos/citologia , Células NIH 3T3
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