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1.
Evol Appl ; 16(3): 673-687, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36969136

RESUMO

Western redcedar (WRC; Thuja plicata) is a conifer of the Pacific Northwest of North America prized for its durable and rot-resistant wood. WRC has naturally low outcrossing rates and readily self-fertilizes in nature. Challenges faced in WRC breeding and propagation involve selecting trees for accelerated growth while also ensuring enhanced heartwood rot resistance and resistance to ungulate browsing, as well as mitigating potential effects of inbreeding depression. Terpenes, a large and diverse class of specialized metabolites, confer both rot and browse resistance in the wood and foliage of WRC, respectively. Using a Bayesian modelling approach, we isolated single nucleotide polymorphism (SNP) markers estimated to be associated with three different foliar terpene traits and four different heartwood terpene traits, as well as two growth traits. We found that all traits were complex, being associated with between 1700 and 3600 SNPs linked with putatively causal loci, with significant polygenic components. Growth traits tended to have a larger polygenic component while terpene traits had larger major gene components; SNPs with small or polygenic effect were spread across the genome, while larger-effect SNPs tended to be localized to specific linkage groups. To determine whether there was inbreeding depression for terpene chemistry or growth traits, we used mixed linear models for a genomic selection training population to estimate the effect of the inbreeding coefficient F on foliar terpenes, heartwood terpenes and several growth and dendrochronological traits. We did not find significant inbreeding depression for any assessed trait. We further assessed inbreeding depression across four generations of complete selfing and found that not only was inbreeding depression not significant but that selection for height growth was the only significant predictor for growth during selfing, suggesting that inbreeding depression due to selfing during operational breeding can be mitigated by increased selection intensity.

2.
Evol Appl ; 15(8): 1291-1312, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36051463

RESUMO

Western redcedar (WRC) is an ecologically and economically important forest tree species characterized by low genetic diversity with high self-compatibility and high heartwood durability. Using sequence capture genotyping of target genic and non-genic regions, we genotyped 44 parent trees and 1520 offspring trees representing 26 polycross (PX) families collected from three progeny test sites using 45,378 SNPs. Trees were phenotyped for eight traits related to growth, heartwood and foliar chemistry associated with wood durability and deer browse resistance. We used the genomic realized relationship matrix for paternity assignment, maternal pedigree correction, and to estimate genetic parameters. We compared genomics-based (GBLUP) and two pedigree-based (ABLUP: polycross and reconstructed full-sib [FS] pedigrees) models. Models were extended to estimate dominance genetic effects. Pedigree reconstruction revealed significant unequal male contribution and separated the 26 PX families into 438 FS families. Traditional maternal PX pedigree analysis resulted in up to 51% overestimation in genetic gain and 44% in diversity. Genomic analysis resulted in up to 22% improvement in offspring breeding value (BV) theoretical accuracy, 35% increase in expected genetic gain for forward selection, and doubled selection intensity for backward selection. Overall, all traits showed low to moderate heritability (0.09-0.28), moderate genotype by environment interaction (type-B genetic correlation: 0.51-0.80), low to high expected genetic gain (6.01%-55%), and no significant negative genetic correlation reflecting no large trade-offs for multi-trait selection. Only three traits showed a significant dominance effect. GBLUP resulted in smaller but more accurate heritability estimates for five traits, but larger estimates for the wood traits. Comparison between all, genic-coding, genic-non-coding and intergenic SNPs showed little difference in genetic estimates. In summary, we show that GBLUP overcomes the PX limitations, successfully captures expected historical and hidden relatedness as well as linkage disequilibrium (LD), and results in increased breeding efficiency in WRC.

3.
Genome Res ; 32(10): 1952-1964, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36109148

RESUMO

We assembled the 9.8-Gbp genome of western redcedar (WRC; Thuja plicata), an ecologically and economically important conifer species of the Cupressaceae. The genome assembly, derived from a uniquely inbred tree produced through five generations of self-fertilization (selfing), was determined to be 86% complete by BUSCO analysis, one of the most complete genome assemblies for a conifer. Population genomic analysis revealed WRC to be one of the most genetically depauperate wild plant species, with an effective population size of approximately 300 and no significant genetic differentiation across its geographic range. Nucleotide diversity, π, is low for a continuous tree species, with many loci showing zero diversity, and the ratio of π at zero- to fourfold degenerate sites is relatively high (approximately 0.33), suggestive of weak purifying selection. Using an array of genetic lines derived from up to five generations of selfing, we explored the relationship between genetic diversity and mating system. Although overall heterozygosity was found to decline faster than expected during selfing, heterozygosity persisted at many loci, and nearly 100 loci were found to deviate from expectations of genetic drift, suggestive of associative overdominance. Nonreference alleles at such loci often harbor deleterious mutations and are rare in natural populations, implying that balanced polymorphisms are maintained by linkage to dominant beneficial alleles. This may account for how WRC remains responsive to natural and artificial selection, despite low genetic diversity.


Assuntos
Traqueófitas , Traqueófitas/genética , Autofertilização/genética , Alelos , Heterozigoto , Polimorfismo Genético , Variação Genética , Seleção Genética
4.
Ophthalmic Plast Reconstr Surg ; 37(6): e221-e223, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34570048

RESUMO

A 50-year-old woman with a history of controlled Graves' disease without clinical ophthalmopathy presents with 2 months of left more than right periorbital swelling and proptosis. Her eye symptoms and signs began 3 days following her second vaccination against the COVID-19 virus. Orbital imaging, elevated thyroid stimulating immunoglobulin, and negative systemic work up for other diseases were consistent with a diagnosis of active thyroid eye disease. The temporal relationship to her vaccination was likely consistent with autoimmune/inflammatory syndrome associated with adjuvants. Clinicians should remind patients of the symptoms and signs of thyroid eye disease and to seek appropriate medical and ophthalmic advice if they occur after the COVID-19 vaccine.


Assuntos
COVID-19 , Doença de Graves , Oftalmopatia de Graves , Vacinas contra COVID-19 , Feminino , Doença de Graves/diagnóstico , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/etiologia , Humanos , Pessoa de Meia-Idade , SARS-CoV-2
5.
Ophthalmic Plast Reconstr Surg ; 37(4): e143-e145, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33782323

RESUMO

A 91-year-old female with a history of chronic lymphocytic leukemia developed recurrent bouts of bilateral dacryocystitis. She underwent incision and drainage of the lacrimal sac with culture demonstrating the rare bacteria Stenotrophomonas maltophilia. She underwent subsequent dacryocystectomy with biopsy revealing bilateral involvement of chronic lymphocytic leukemia in the lacrimal sac. Stenotrophomonas maltophilia has been associated with immune suppression and is rarely seen in dacryocystitis. Local and/or systemic immune deregulation or suppression may play a role in lacrimal sac infection with this bacterium in some patients.


Assuntos
Dacriocistite , Dacriocistorinostomia , Doenças do Aparelho Lacrimal , Leucemia Linfocítica Crônica de Células B , Ducto Nasolacrimal , Stenotrophomonas maltophilia , Idoso de 80 Anos ou mais , Dacriocistite/diagnóstico , Dacriocistite/cirurgia , Feminino , Humanos , Doenças do Aparelho Lacrimal/cirurgia
6.
Orbit ; 40(4): 269-273, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32669009

RESUMO

PURPOSE: Clinicians are becoming increasingly aware of the risks of opioid analgesics, and, consequently, are searching for alternatives to these agents. This review considers the existing literature regarding the management of pain after ophthalmic plastic surgery. METHODS: A literature search was performed through the PubMed database. Articles were assessed for relevance, and the appropriate data was extracted from the medical literature regarding pain management strategies after oculoplastic procedures. RESULTS: An emerging body of literature suggests the efficacy of a variety of non-narcotic agents in post-operative pain management. Many of these medications prevent the development of pain, and several have been studied in randomized trials. Specifically, pregabalin, ketorolac, acetaminophen, memantine, local anesthetics, and alternative therapies all have documented benefit in this setting. CONCLUSIONS: Several medications may prevent and treat pain after ophthalmic plastic surgery. These agents are well-tolerated, and many decrease the requirement for opioid analgesics. Clinicians should be aware of these therapies when considering non-narcotic pain management.


Assuntos
Cirurgia Plástica , Acetaminofen/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Humanos , Cetorolaco/uso terapêutico , Dor Pós-Operatória/tratamento farmacológico
7.
Ophthalmic Plast Reconstr Surg ; 37(1): e30-e33, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32433350

RESUMO

Orbital involvement with histologic necrosis is a rare manifestation of systemic sarcoidosis. The authors present a case of necrotizing dacryoadenitis in addition to non-necrotizing granulomas in a hypertrophic scar that is consistent with a diagnosis of sarcoidosis. A 60-year-old female presented with 2 months of painless right upper eyelid fullness and ptosis. CT imaging demonstrated right greater than left lacrimal gland enlargement. A biopsy demonstrated necrotizing granulomatous inflammation of the lacrimal gland. Additional workup was negative for infectious or lymphoproliferative disease. On further investigation, the patient noted thickening of a longstanding abdominal scar, and a subsequent punch biopsy of the scar demonstrated non-necrotizing granulomas suggestive of scar sarcoidosis. CT chest identified mediastinal lymphadenopathy. A diagnosis of sarcoidosis was determined. The authors thereby present an unusual case of 2 histologic variants of sarcoidosis presenting with necrotizing granulomatous dacryoadenitis and non-necrotizing scar granulomas.


Assuntos
Dacriocistite , Sarcoidose , Cicatriz , Dacriocistite/diagnóstico , Feminino , Granuloma/diagnóstico , Humanos , Hipertrofia , Pessoa de Meia-Idade , Sarcoidose/complicações , Sarcoidose/diagnóstico
9.
Orbit ; 40(1): 24-29, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32048532

RESUMO

Purpose: To directly compare an algorithmic external levator resection technique with the choice of intraoperative adjustment to the same technique without intraoperative adjustments. Methods: A sequential controlled prospective comparative cohort study. Two cohorts were compared: a historical control adjustment, and an experimental non-adjustment group. Fourteen patients, 25 eyelids, were in the historical cohort; and 15 patients, 23 eyelids, were in the non-adjustment cohort. Primary acquired ptosis patients who met inclusion criteria were considered. All patients underwent a standardized external levator resection technique. Intraoperative adjustments were performed only in the historical cohort. Age, follow-up time, surgical time, and marginal reflex distance 1 (MRD1) were collected. Statistical analysis was performed using the Mann-Whitney U test. Statistical significance was p < 0.05. Primary and secondary outcome measures were postoperative MRD1 minus goal MRD1, and surgical time, respectively. Results: Twenty-five historical eyelids were compared with 23 non-adjusted eyelids. The average patient age was 68.4 years (range 19-84) and 59.3 years (range 24-83) for the adjusted and non-adjusted groups. Six-month postoperative (postoperative minus goal) MRD1 was -0.1 mm (95% CI -0.3-0.1) and -0.2 mm (95% -0.5-0.0) (p = 0.33), and surgical time was 13.8 min (95% CI 12.6-15.1) and 9.5 min (95% CI 9.0-10.1) (p < 0.001) for the adjusted and non-adjusted cohort, respectively. Conclusions: The external levator resection, utilizing a standardized algorithm approach, is an efficacious technique for involutional eyelid ptosis. With sound technique, this method can be performed without the need for intraoperative adjustment, thereby saving operative time and achieving similar results.


Assuntos
Blefaroplastia , Blefaroptose , Adulto , Idoso , Idoso de 80 Anos ou mais , Blefaroptose/cirurgia , Estudos de Coortes , Humanos , Pessoa de Meia-Idade , Músculos Oculomotores/cirurgia , Estudos Prospectivos , Estudos Retrospectivos , Suturas , Resultado do Tratamento , Adulto Jovem
12.
Ophthalmic Plast Reconstr Surg ; 36(5): e131-e134, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32221105

RESUMO

A 49-year-old otherwise healthy male presented with an odontogenic abscess and mild left facial swelling. CT imaging revealed gaseous hypodensities within the inferior orbital fissure and pterygopalatine fossa in addition to infection of the left masseter and temporalis muscle. Despite dental drainage, this rapidly progressed to orbital cellulitis with temporalis muscles abscess leading to compartment syndrome and globe tenting. He had an excellent outcome after canthotomy and cantholysis, urgent endoscopic and transconjunctival orbital decompression, temporalis muscle abscess drainage, and intravenous antibiotics. This case describes the use of bony orbital decompression for orbital compartment syndrome and globe tenting from odontogenic orbital cellulitis. In addition, this case radiographically demonstrates a transinferior orbital fissure passageway of an odontogenic abscess in the orbit.


Assuntos
Síndromes Compartimentais , Celulite Orbitária , Doenças Orbitárias , Abscesso/diagnóstico , Abscesso/cirurgia , Descompressão , Humanos , Masculino , Pessoa de Meia-Idade , Órbita/diagnóstico por imagem , Órbita/cirurgia , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/cirurgia
14.
Br J Cardiol ; 27(3): 22, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-35747770

RESUMO

Patients with congenitally determined aortic root aneurysms are at risk of aortic valve regurgitation, aortic dissection, rupture and death. Personalised external aortic root support (PEARS) may provide an alternative to aortic root replacement. This was a multi-centre, prospective cohort of all consecutive patients who received ExoVasc mesh implants for a dilated aortic root between 2004 and 2017. Baseline and peri-operative characteristics, as well as early postoperative outcomes are described, and time-related survival and re-operation free survival are estimated using the Kaplan-Meier method. From 2004 through 2017, 117 consecutive patients have received ExoVasc mesh implants for aortic root aneurysm. The inclusion criteria were an aortic root/sinus of Valsalva and ascending aorta with asymptomatic dilatation of between 40 and 50 mm in diameter in patients aged 16 years or more. Patients with more than mild aortic regurgitation were excluded. There was one early death. The length of stay was within seven days in 75% of patients. In conclusion, the operation achieves the objectives of valve-sparing root replacement. PEARS may be seen as a low-risk conservative operation, which can be applied earlier on in the disease process, and which is complementary to more invasive procedures, such as valve-sparing root replacement or total root replacement.

17.
Ophthalmic Plast Reconstr Surg ; 35(3): e59-e62, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30865072

RESUMO

Large cysts in the orbital lobe of the lacrimal gland are rare and are associated with Sjögren syndrome and B-cell mucosa-associated lymphoid tissue lymphoma. The authors describe 4 new cases of large orbital lobe lacrimal gland cysts. The first 2 patients, both with Sjögren syndrome, had unilateral cysts associated with chronic inflammation. Mucosa-associated lymphoid tissue lymphoma was also identified in the cyst wall of the second case and could not be completely excluded in the first case. The third patient, with a history of rheumatoid arthritis, had bilateral cysts, again associated with mucosa-associated lymphoid tissue lymphoma. The fourth patient, with no history of systemic disease, had a unilateral cyst associated with reactive lymphoid hyperplasia. Finally, the authors report the long-term outcomes of 3 previously reported cases.


Assuntos
Doenças Autoimunes/complicações , Cistos/etiologia , Neoplasias Oculares/etiologia , Doenças do Aparelho Lacrimal/complicações , Aparelho Lacrimal/diagnóstico por imagem , Doenças Linfáticas/complicações , Linfoma de Zona Marginal Tipo Células B/complicações , Idoso , Doenças Autoimunes/diagnóstico , Doença Crônica , Cistos/diagnóstico , Neoplasias Oculares/diagnóstico , Feminino , Seguimentos , Humanos , Hiperplasia , Doenças do Aparelho Lacrimal/diagnóstico , Doenças Linfáticas/diagnóstico , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
19.
J Glaucoma ; 27(10): e154-e157, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29979338

RESUMO

INTRODUCTION: Trans-lamina cribrosa pressure has been postulated to be a contributor in the development of a glaucomatous optic nerve versus optic nerve edema, depending on the pressure gradient. Uncertainty remains in the therapeutic outcome of adjusting this gradient. CASE REPORT: We discuss a unique case of idiopathic intracranial hypertension presenting as asymmetric optic disc edema following trabeculectomy. It was treated via optic nerve fenestration due to the patient remaining symptomatic on maximum tolerated acetazolamide. Intraocular pressure stabilized into target range and the optic nerve edema resolved. CONCLUSIONS: Rarely, intraocular pressure reduction can unmask elevated intracranial pressure, leading to optic nerve edema. Optic nerve sheath fenestration is a practical therapeutic modality to consider when treating this occurrence.


Assuntos
Nervo Óptico/cirurgia , Papiledema/etiologia , Papiledema/cirurgia , Trabeculectomia/efeitos adversos , Doença Crônica , Glaucoma de Ângulo Aberto/cirurgia , Humanos , Hipertensão Intracraniana/etiologia , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Papiledema/fisiopatologia
20.
Surv Ophthalmol ; 63(3): 381-388, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28837797

RESUMO

Ocular adnexal lymphoma and intraocular lymphoma, whether occurring simultaneously or sequentially, are often similar to associated systemic lymphoma. We describe 4 cases of ocular adnexal lymphoma or intraocular lymphoma with a dissimilar systemic lymphoma. Two of the cases represent Richter transformation of chronic lymphocytic leukemia/small-cell lymphoma into diffuse large B-cell lymphoma. In the third patient, conjunctival extranodal marginal zone lymphoma developed following treatment for Hodgkin lymphoma. The fourth patient had a remote history of systemic diffuse large B-cell lymphoma with a subsequent diagnosis of orbital extranodal marginal zone lymphoma. Clinical-pathological correlation is reported for all cases in addition to pertinent review of the literature.


Assuntos
Neoplasias da Túnica Conjuntiva/patologia , Neoplasias Oculares/patologia , Leucemia de Células B/patologia , Neoplasias Orbitárias/patologia , Idoso , Feminino , Humanos , Leucemia Linfocítica Crônica de Células B , Linfoma de Zona Marginal Tipo Células B/patologia , Linfoma Difuso de Grandes Células B/patologia , Masculino , Pessoa de Meia-Idade
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