A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
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SUBMITTER: Pavanello M
PROVIDER: S-EPMC8642253 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Moyamoya disease (MMD) is a chronic cerebrovascular disease that frequently results in intracranial ischemia or hemorrhage. Its concurrence with varying ophthalmic findings is relatively rare yet may lead to irreversible blindness. We performed a search and review of the literature to characterize the relevance of MMD (excluding moyamoya syndrome) and ophthalmic findings. As a result, a total of 38 articles identified from PubMed and Web of Science were included in this mini-review. Patients with MMD sometimes present with decreased visual acuity or visual field defects before the onset of symptomatic cerebrovascular dysfunction. The most predominant ophthalmic condition in MMD patients is the morning glory disc anomaly (MGDA). Deficiency during neuroectodermal genesis and subsequent mesodermal changes may be responsible for the association between these two diseases. Thus, it may be beneficial for patients with MGDA to receive cerebral vascular examinations as the precaution against life-threatening intracranial angiopathy. Other ophthalmic findings reported in cases of MMD include retinal vascular occlusion, optic disc pallor, cortical blindness, etc. For most of the patients with MMD, retinal examinations would be recommended to prevent potential loss of vision. It is essential for both neurologists and ophthalmologists to be aware of the correlation between cerebrovascular diseases such as MMD and ocular manifestations to achieve a comprehensive diagnosis.
| S-EPMC7242724 | biostudies-literature
Project description:PurposeMorning glory disc anomaly (MGDA) is associated with a high prevalence of retinal detachment (RD), sometimes requiring multiple surgeries. The study aimed to establish the outcomes of RD surgery in such eyes and predict factors influencing the outcome, if any.MethodsIt was a retrospective observational study of 9 eyes that underwent pars plana vitrectomy (PPV) for RD associated with MGDA. Clinical and surgical details were correlated with outcomes of surgery as noted at the final follow-up.ResultsPPV was performed in 9 eyes. Lensectomy was done in 5 of 9 eyes (55.5%) during PPV. Laser photocoagulation around the disc was performed in 55.5% (5/9) of the eyes. Silicone oil tamponade was used in 77.7% (7/9) of eyes and gas tamponade (14% C3F8) was used in 22.3% (2/9) of eyes. Attached retina at final visit was observed in 66% of the eyes (6/9). Two out of 3 eyes that were seen to have preoperative glial tissue at the disc had poor outcome (odds ratio 10, P = 0.16). Five out of 7 (71%) eyes that had silicone oil tamponade, had an attached retina. No identifiable breaks were noted preoperatively in 5 eyes, of which 4 (80%) had an attached retina postoperatively. Vision improved by 1 line in 67% of the eyes that underwent surgery.ConclusionMGDA related RD presents a unique set of challenges; meticulous PPV with or without lensectomy can help in achieving a successful anatomical and functional outcome in about two-thirds of patients.
| S-EPMC8482902 | biostudies-literature
Project description:PurposeThis study aimed to report clinical characteristics, intraoperative findings, and surgical outcomes of 2 eyes of 2 patients with retinal detachment (RD) associated with morning glory syndrome (MGS) and contractile movement of the disc.ObservationsCase 1 was a 3-year-old Japanese boy who presented with congenital microphthalmos in the left eye. The presence of total RD with MGS and contractile movement of the disc was confirmed by ophthalmoscopic examination. During vitrectomy, migration of perfluorocarbon liquid into the subretinal space was observed, suggesting a communication between the vitreous cavity and the subretinal space. Here, the retina was reattached briefly after the surgery; however, it detached again 2 months after surgery. Case 2 was a 3-month-old Japanese girl who was referred to our hospital for evaluation of RD and MGS in her left eye. Partial RD, MGS, and contractile movement of the disc were confirmed by ophthalmoscopic examination. The RD remained unchanged up to 18 months from the first visit, but atresia of the pupil was found 21 months after the first visit. Severe proliferative vitreoretinopathy and contractile movement of the disc were found after lensectomy. It was impossible to completely remove the membrane despite meticulous effort of peeling it off. At the 15-month follow-up, the retinal configuration improved but remained detached.Conclusion and importanceTotal RD with contractile movement of the disc associated with MGS is a rare condition that seems difficult to treat.
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Project description:Seeds of plants from Ipomoea genera contain numerous ergot alkaloids, including psychoactive ergine and ergometrine, and are often abused as so-called "legal highs." In this work, an analytical method for determination of ergine and ergometrine, and identification of other alkaloids was developed, optimized, and validated. Three extraction techniques, ultrasound-assisted extraction in bath, or with sonotrode, and microwave-assisted extraction were evaluated, and it was concluded that ultrasonic bath is the most suitable technique for extraction of ergot alkaloids. The extraction method was later optimized using a Doehlert experimental design with response surface methodology and used together with the optimized LC-Q-TOF-MS method. The analytical procedure was validated in terms of recovery and matrix effect, repeatability, and intermediate precision. Limits of detection and quantification were 1.0 and 3.0 ng mL(-1), respectively, and were sufficient for determination of ergot alkaloids in Ipomoea seeds. The analysis revealed that from five kinds of seeds purchased from different vendors, only three contained ergot alkaloids. Concentration of alkaloids and their relative abundance was similar in samples representative for whole seeds packs; however, when single seeds were analyzed, significant discrepancies in ergine and ergometrine concentrations were detected.
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Project description:Ipomoea is the largest genus in the family Convolvulaceae. Ipomoea nil (Japanese morning glory) has been utilized as a model plant to study the genetic basis of floricultural traits, with over 1,500 mutant lines. In the present study, we have utilized second- and third-generation-sequencing platforms, and have reported a draft genome of I. nil with a scaffold N50 of 2.88?Mb (contig N50 of 1.87?Mb), covering 98% of the 750?Mb genome. Scaffolds covering 91.42% of the assembly are anchored to 15 pseudo-chromosomes. The draft genome has enabled the identification and cataloguing of the Tpn1 family transposons, known as the major mutagen of I. nil, and analysing the dwarf gene, CONTRACTED, located on the genetic map published in 1956. Comparative genomics has suggested that a whole genome duplication in Convolvulaceae, distinct from the recent Solanaceae event, has occurred after the divergence of the two sister families.
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Project description:A common evolutionary trend in highly selfing plants is the evolution of the "selfing syndrome", in which traits associated with pollinator attraction are lost or greatly reduced. Limited information is available on whether these trait reductions are favored by natural selection or result from reduced purifying selection coupled with genetic drift. This study attempted to distinguish between these two possibilities for the evolutionary loss of floral pigmentation in the highly selfing species Ipomoea lacunosa. This study also tested the hypothesis that loss of floral pigmentation is caused by downregulation or loss of function in a tissue-specific anthocyanin transcription factor, as has been found in other plants. F2 individuals of a cross between white and pigmented individuals revealed segregation at two epistatically acting loci: one affecting pigmentation in both corolla throat and limbs (Anl1) and one affecting limb pigmentation (Anl2). Individuals that are homozygous for the "white" allele at Anl1 have white throats and limbs regardless of genotype at Anl2. In individuals with pigmented throats, homozygosity of the "white" allele at Anl2 produces white limbs. Flower color variation at Anl1 cosegregates with an R2R3-Myb anthocyanin transcription factor, which is down-regulated in white-flowers but not in pigmented flowers. Differential expression of the two alleles of this gene indicates that down regulation is caused by a cis-regulatory change. Finally, allele-frequency differences at Anl1 were substantially and significantly greater than differences in allele frequencies at four microsatellite loci. These results are consistent with the hypotheses that the identified R2R3-Myb gene corresponds to Anl1 and that evolutionary loss of pigmentation in I. lacunosa was caused by selection. They are also consistent with previous studies demonstrating that loss of floral pigmentation is usually caused by down-regulation or functional inactivation of an R2R3-Myb gene.
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Project description:Japanese morning glory, Ipomoea nil, has several coloured flowers except yellow, because it can accumulate only trace amounts of carotenoids in the petal. To make the petal yellow with carotenoids, we introduced five carotenogenic genes (geranylgeranyl pyrophosphate synthase, phytoene synthase, lycopene β-cyclase and β-ring hydroxylase from Ipomoea obscura var. lutea and bacterial phytoene desaturase from Pantoea ananatis) to white-flowered I. nil cv. AK77 with a petal-specific promoter by Rhizobium (Agrobacterium)-mediated transformation method. We succeeded to produce transgenic plants overexpressing carotenogenic genes. In the petal of the transgenic plants, mRNA levels of the carotenogenic genes were 10 to 1,000 times higher than those of non-transgenic control. The petal colour did not change visually; however, carotenoid concentration in the petal was increased up to about ten-fold relative to non-transgenic control. Moreover, the components of carotenoids in the petal were diversified, in particular, several β-carotene derivatives, such as zeaxanthin and neoxanthin, were newly synthesized. This is the first report, to our knowledge, of changing the component and increasing the amount of carotenoid in petals that lack ability to biosynthesize carotenoids.
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