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1.
Acta Med Port ; 37(4): 316, 2024 Apr 01.
Artículo en Portugués | MEDLINE | ID: mdl-38631062

RESUMEN

On page 5, 3rd paragraph, line 7, where it reads, (in red): "(...) considering the international recommendation (1:10 000)8" It should read (in blue): "(...) considering the international recommendation (0.5:10 000)8" Still on page 5, 5th paragraph, line 8, where it reads, (in red): "(...) in the 40 - 50-year age group" It should read (in blue): "(...) below the 40 - 50-year age group" On page 8, key of Table 1, line 5, where it reads, (in red): "1: PORTATA 2021;" It should read (in blue): "1: PORDATA 2021;" Article published with errors: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20321.


Na página 5, 3º parágrafo, linha 7, onde se lê, (a vermelho): "(...) considering the international recommendation (1:10 000)8" Deverá ler-se (a azul): "(...) considering the international recommendation (0.5:10 000)8" Ainda na página 5, 5º parágrafo, linha 8, onde se lê, (a vermelho): "(...) in the 40 - 50-year age group" Deverá ler-se (a azul): "(...) below the 40 - 50-year age group" Na página 8, legenda da Tabela 1, linha 5, onde se lê, (a vermelho): "1: PORTATA 2021;" Deverá ler-se (a azul): "1: PORDATA 2021;" Artigo publicado com erros: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20321.

2.
Acta Med Port ; 2024 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-38477300

RESUMEN

INTRODUCTION: Human resources in ophthalmology have recently received particular attention, and it has been questioned whether there is a sufficient number of workers. The aim of this study was to analyze and characterize Portugal's ophthalmologist population. METHODS: In this descriptive, cross-sectional study, an online questionnaire was sent to all ophthalmologists registered with the Portuguese College of Ophthalmology in December 2021. Information on the following variables was collected and analyzed: demographic factors, professional qualifications, professional activity, weekly professional activity and medium-term plans. RESULTS: Among the 910 registered ophthalmologists, a response rate of 64.7% was achieved. There were 0.9 ophthalmologists for every 10 000 inhabitants, 0.45:10 000 working in the public sector (0.35:10 000 full-time equivalent). Among the respondents, 57.6% were over 50 years old (59.6% male), 97.3% were Portuguese, 46.7% completed their residency in the Lisbon region, 27.3% complemented their programme with additional training, 9.5% had a PhD and approximately 58% lived and worked in large urban centres. Regarding professional activity, 58.5% of the respondents worked in the public sector (4.2% exclusively), while 67.9% worked in different economic sectors. The median number of weekly working hours reported was 45 hours, with those in the public sector reporting 35 hours. Private/social sector work and public sector work accounted for 12 926 hours/week and 10 808 hours/week, respectively. It was found that 31.4% of the respondents provided emergency medical services and that 52.8% performed surgical procedures more than once a week. Looking ahead, 38.7% of the ophthalmologists intended to reduce their workload within the next five years due to family reasons, fatigue and demotivation. The projected rate of retirement or cessation of activity in the next five years was estimated to be 1.7%, while an average of 20 new ophthalmologists are expected to enter the profession annually, resulting in a generational balance of 0.8%. CONCLUSION: While the number of ophthalmologists in Portugal meets the international recommendations, there is a shortage in the public sector and most ophthalmologists work in large urban centres. The number of ophthalmologists in Portugal is expected to be stable for the next five years.

3.
J AAPOS ; 28(2): 103853, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38378129

RESUMEN

We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel ALMS1 variant.


Asunto(s)
Síndrome de Alstrom , Nistagmo Patológico , Espasmos Infantiles , Femenino , Humanos , Niño , Nistagmo Patológico/diagnóstico , Síndrome de Alstrom/diagnóstico , Espasmos Infantiles/diagnóstico , Electrorretinografía , Diagnóstico Diferencial , Proteínas de Ciclo Celular
4.
Strabismus ; : 1-9, 2024 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-38380608

RESUMEN

PURPOSE: Strabismus and Pediatrics Ophthalmology surgeries are pivotal in addressing early-onset visual disorders. An 11-year retrospective study at a tertiary hospital center aimed to elucidate evolving surgical trends, focusing on esotropia cases. METHODS: The surgical records from January 2009 to January 2020 were analyzed according to the baseline diagnosis. Esotropia cases were evaluated based on the patients' deviation types, surgical techniques, and pre-operative characteristics. A total of 2050 surgeries were performed over the study period. RESULTS: Strabismus surgery accounts for 70% of the department's surgical activity. A trend toward a decrease in esotropia surgeries and a proportional increase in exotropia surgeries was noticeable. Esotropia cases, with a median surgical age of 6 years (p25-p75, 4-10) and uniform gender distribution (females, 54.8%), predominantly involved high angular deviations. Posterior fixation sutures emerged as the preferred surgical technique for esotropia. CONCLUSION: The study's insights, while aligning with prior European research, introduce new dimensions to the understanding of strabismus surgeries, emphasizing the significance of early interventions, evolving surgical preferences, and the challenges posed by severe deviations.

5.
Eur J Ophthalmol ; 34(1): NP6-NP11, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37157789

RESUMEN

BACKGROUND: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (BCOR). We report a case series of three female patients with OFCD syndrome with severe glaucoma. RESULTS: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation. CONCLUSION: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.


Asunto(s)
Catarata , Glaucoma , Hipertensión Ocular , Humanos , Femenino , Adulto , Niño , Proteínas Represoras/genética , Proteínas Proto-Oncogénicas/genética , Catarata/complicaciones , Glaucoma/complicaciones , Hipertensión Ocular/complicaciones
6.
J Glaucoma ; 33(5): 317-324, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38129953

RESUMEN

PRCIS: Glaucoma after pediatric cataract surgery is common and challenging. Age at surgery and the presence of microcornea or other anterior segment (AS) abnormalities can be used to identify those at greatest risk. OBJECTIVE: To establish risk factors for developing glaucoma after pediatric cataract surgery [glaucoma following cataract surgery (GFCS)]. METHODS: Single-center, retrospective, longitudinal study of patients who underwent lensectomy for pediatric cataracts from 2008 to 2020. Included eyes presented with congenital or acquired pediatric cataracts or an anterior form of persistent fetal vasculature, and a follow-up of at least 1 year. Exclusion criteria were the presence of preexisting intraocular pressure elevation, congenital glaucoma, syndromic cataracts, and a history of trauma or uveitis. Demographic and clinical data were collected. Our primary outcome was the development of GFCS. Multivariable logistic regression with generalized estimating equations was used to model the association between potential predictors and the risk of GFCS. RESULTS: A total of 110 eyes from 74 patients were included, 38 with unilateral and 36 with bilateral pediatric cataract surgery. The average surgery age was 24.71 ± 37.26 months, with 74 eyes (67.3%) undergoing surgery ≤12 weeks of age. Patients were followed for 9.96 ± 3.64 years after surgery. Twenty-eight eyes (25.45%) developed GFCS, all requiring glaucoma surgery. In multivariable analysis, surgery before 12 weeks of age [odds ratio (OR): 34.74; P < 0.001], presence of microcornea (OR: 12.90; P = 0.002), and presence of other AS abnormalities (OR: 52.71; P < 0.001) were significantly associated with the development of GFCS. CONCLUSIONS: The development of GFCS is a common and relevant adverse event after pediatric cataract surgery whose management is challenging. Age at surgery, the presence of microcornea, and the presence of other AS abnormalities can be used to identify those at greatest risk.


Asunto(s)
Extracción de Catarata , Catarata , Glaucoma , Presión Intraocular , Complicaciones Posoperatorias , Humanos , Masculino , Femenino , Estudios Retrospectivos , Extracción de Catarata/efectos adversos , Preescolar , Factores de Riesgo , Lactante , Presión Intraocular/fisiología , Glaucoma/etiología , Catarata/congénito , Niño , Agudeza Visual/fisiología , Estudios de Seguimiento
7.
BMC Ophthalmol ; 23(1): 512, 2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38102543

RESUMEN

BACKGROUND: Overelevation in adduction is common in patients with primary esotropia. This study evaluates the variation in ocular motility pattern in patients with primary inferior oblique (IO) muscle overaction after esotropia surgery. METHODS: The medical records of consecutive patients who underwent surgery for infantile, partially accommodative, and basic esotropia over eleven years and had at least one year of follow-up were reviewed. Patients with primary inferior oblique muscle overaction (IOOA) presented at baseline or during follow-up were selected and divided according to the first surgery performed concurrently with horizontal rectus surgery: without IO recession (NO-recess), with unilateral IO recession (UNIL-recess), and with bilateral IO recession (BIL-recess). The success (version normalisation or at least 2 points upgrade in severity scale [0-4] in the operated eye), recurrence rates, and the evolution of the non-operated IO muscles were evaluated. RESULTS: One hundred and ten patients were included - 53 NO-recess, 26 UNIL-recess, and 31 BIL-recess. Medial rectus muscle posterior fixation sutures surgery (PFS) was performed in 88.2% of patients for esotropia. A recession with graded anterior transposition was the weakening IO procedure. In the NO-recess group, 28 (52.8%) patients normalised their mild IOOA after PFS surgery alone. In the UNI-recess group, the success rate was 88.5%, with 16 (61.5%) patients showing worsened IO muscle of the fellow eye, which prompted additional surgery in 10 patients. In the BIL-recess group, all 31 patients improved the adduction pattern of the operated eye for an 80.6% success rate (6 improved marginally). CONCLUSION: Graded anterior transposition of the inferior oblique muscle effectively normalises versions. However, it's frequent for a contralateral overaction to become manifest after unilateral IO surgery.


Asunto(s)
Esotropía , Enfermedades Musculares , Trastornos de la Motilidad Ocular , Enfermedades Orbitales , Estrabismo , Humanos , Esotropía/cirugía , Resultado del Tratamiento , Procedimientos Quirúrgicos Oftalmológicos/métodos , Estudios Retrospectivos , Músculos Oculomotores/cirugía , Visión Binocular/fisiología , Estrabismo/cirugía
8.
Ophthalmol Ther ; 12(6): 2989-2999, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37589933

RESUMEN

INTRODUCTION: Strabismus, specifically esotropia, presents a significant challenge in ophthalmic surgery, while several treatment options exist. This study aims to evaluate the results of posterior fixation sutures (PFS) on the medial rectus as a primary approach for some types of esotropia. METHODS: The medical records of consecutive patients who underwent surgery for esotropia over 11 years and had at least 1 year of follow-up were reviewed retrospectively. Patients were classified into one of three types of deviation: infantile (IE), partially accommodative (PAE) and basic (BE) esotropias. An alignment within 16 prism diopters (PD) of orthotropia was a successful outcome. RESULTS: A total of 404 patients were included: 67 IE, 180 PAE and 157 BE. Before surgery, a deviation greater than 30 PD was present in 88.1% and 80.1%, and a deviation greater than 50 PD was present in 66.5% and 52.9% of patients (near and distance, respectively). In the BE group, PFS was the baseline surgery in a smaller number of cases (75%) compared to the other two groups (versus 86.6% [IE] and 88.3% [PAE], p = 0.002). The need for an additional procedure was significantly higher in the infantile esotropia group (44.8% vs. 18.9% and 24.8%, p < 0.001). Final surgical success was achieved in 95.3% of all patients. Orthotropia was achieved in 19.4% (IE), 29.6% (PAE) and 25.5% (BE) of cases. CONCLUSION: PFS of the medial rectus without recession proved successful as a first-line procedure for esotropia in the subtypes of patients evaluated in this study.

9.
JIMD Rep ; 64(2): 129-137, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36873088

RESUMEN

Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N-acetylgalactosamine 4-sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma. The purpose of this study was to retrospectively describe a series of MPS VI patients with optic neuropathy in order to deepen the knowledge regarding the causes of severe visual impairment among these patients. We present five genetically confirmed clinical cases of MPS VI, treated with enzymatic replacement therapy, and with regular systemic and ophthalmologic follow-up. Corneal clouding was a common early presenting feature, leading to PK in four patients. During their follow-up, all patients developed very low visual acuities regardless of corneal grafts outcomes and controlled intraocular pressure (IOP). Furthermore, all patients exhibited optic atrophy and imagiological evidence of significant subarachnoid space enlargement and consequent optic nerve thickness reduction, suggesting compression of the optic nerve in a retro-ocular location as the cause of optic neuropathy. Although optic neuropathy in MPS VI is commonly attributed to glaucoma due to OHT, by describing a series of five MPS VI patients, we provided evidence that, differently from glaucoma, compression of optic nerve in a retro-ocular location is crucial for the development of optic neuropathy, at least in some cases. We propose the denomination of posterior glaucoma and suggest it as an important cause of optic neuropathy, leading to severe visual impairment and blindness among these patients.

10.
Case Rep Ophthalmol ; 13(3): 877-884, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36466065

RESUMEN

Thyroid eye disease (TED) characterizes by inflammation and remodeling of orbital tissues. Although the majority of pediatric TED is mild, some children present progressive and severe disease. The approach to severe disease in this group of patients, especially when noncortico-responsive, is challenging. The purpose of this work was to describe the effective use of tocilizumab as second-line therapy in steroid-resistant pediatric TED. A 13-year-old female with a history of Graves' disease presented with right eye proptosis for at least 8 months associated with mild pain on eye movements and ocular surface complaints. The ophthalmologic evaluation revealed Hertel exophthalmometry readings of 22 mm on the right eye (OD) and 19 mm on the left (OS). The remaining ophthalmic examination was unremarkable. Intravenous methylprednisolone pulses of 500 mg were initiated without any improvement after 4 treatments. Following multidisciplinary team discussion, therapy was switched to monthly tocilizumab injections at 4 mg/kg. Significant reduction of proptosis and resolution of pain and ocular surface complaints were noted immediately after the treatment switch. Exophthalmometry readings after the end of treatment that included 4 tocilizumab injections were 20 mm on OD and 19 mm on OS. No side effects were reported during the entire follow-up. Six months after treatment cessation, the patient remains stable, without any signs of orbitopathy relapse and no ophthalmologic complaints. This is the second case report showing the effectiveness of tocilizumab in pediatric TED and the first one showing its efficacy when steroids fail. Our results support the potential safety and efficacy of this immunosuppressor in children with TED.

11.
Antioxidants (Basel) ; 11(7)2022 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-35883729

RESUMEN

Nitric oxide (NO) is a free radical with a signaling capacity. Its cellular functions are achieved mainly through S-nitrosation where thioredoxin (hTrx) is pivotal in the S-transnitrosation to specific cellular targets. In this study, we use NMR spectroscopy and mass spectrometry to follow the mechanism of S-(trans)nitrosation of hTrx. We describe a site-specific path for S-nitrosation by measuring the reactivity of each of the 5 cysteines of hTrx using cysteine mutants. We showed the interdependence of the three cysteines in the nitrosative site. C73 is the most reactive and is responsible for all S-transnitrosation to other cellular targets. We observed NO internal transfers leading to C62 S-nitrosation, which serves as a storage site for NO. C69-SNO only forms under nitrosative stress, leading to hTrx nuclear translocation.

12.
J AAPOS ; 26(4): 176.e1-176.e4, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35868625

RESUMEN

PURPOSE: To describe the surgical outcomes of patients that underwent strabismus surgery involving advancement of the muscular insertion line toward the limbus. METHODS: The medical records of patients who underwent rectus muscle advancement surgery between January 2009 and June 2019 and had at least 1 year of follow-up were reviewed retrospectively. Patients were classified into one of four types of deviation: (1) convergence insufficiency, without distance deviation; (2) small-angle distance esotropia, with diplopia; (3) residual strabismus after previous surgery; and (4) large-angle exotropia. The first group underwent 2 mm advancement of the medial rectus insertion bilaterally; the second, 2-3 mm advancement of the lateral rectus muscle bilaterally; the third, 2-3 mm advancement of the lateral or medial rectus muscle, with or without simultaneous resection; and the fourth, 3 mm advancement of the medial rectus with simultaneous resection, with or after maximum recession of the lateral rectus, bilaterally or unilaterally. RESULTS: A total of 25 patients were included (mean age, 28.76 ± 22.75 years): 4 with convergence insufficiency, 3 with small-angle distance esotropia and diplopia, 16 with residual strabismus, and 2 with large-angle exotropia. Mean postoperative follow-up was 4.76 ± 2.03 years. Surgery was successful in all patients at 1 year (residual deviation ≤10Δ), and all but 1 at 5 years; 1 patient required reoperation. CONCLUSIONS: Advancement of the muscle insertion proved successful as an alternative or adjunctive procedure to other forms of muscle tightening in the subtypes of patients evaluated in this study.


Asunto(s)
Esotropía , Exotropía , Estrabismo , Adolescente , Adulto , Niño , Diplopía/etiología , Diplopía/cirugía , Progresión de la Enfermedad , Esotropía/etiología , Esotropía/cirugía , Exotropía/cirugía , Humanos , Persona de Mediana Edad , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos/métodos , Estudios Retrospectivos , Estrabismo/cirugía , Resultado del Tratamiento , Adulto Joven
13.
J Neuroophthalmol ; 42(1): 101-107, 2022 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-33770007

RESUMEN

BACKGROUND: Neurofibromatosis Type 1 (NF-1) is a genetic disease affecting the eye, and ocular findings such as Lisch nodules (LN) or optic pathway gliomas (OPGs) are a part of its diagnostic criteria. Recent imaging technologies such as infrared (IR) imaging and optical coherence tomography (OCT) have highlighted the visualization of choroidal focal abnormalities in these patients, even in the absence of other ocular lesions. This study aimed to establish a morphological multimodal evaluation of choroidal findings in patients with NF-1, correlating them with central nervous system (CNS) findings. METHODS: This retrospective study included 44 eyes from 22 patients with NF-1. Central 30° IR imaging was obtained, and the number and total area of detectable lesions were calculated. Both macular and optic disc scanning with OCT were performed, with and without the enhanced depth imaging technique, to assess the presence of choroidal focal hyperreflective lesions. Central macular thickness, ganglion cell layer, and outer nuclear layer thickness were assessed, as well as subfoveal choroidal thickness. The peripapillary retinal nerve fiber layer (RNFL) thickness was also assessed. Patients' magnetic resonance images (MRI) were reviewed and categorized by a neuroradiology specialist, determining the presence of OPGs and CNS hamartomas. Correlations between the ophthalmological and neuroradiological findings were established. RESULTS: Patients' mean age was 16.4 ± 7.3 years and 59.1% were women. On the MRI, 86.4% of the patients had CNS hamartomas, and 34.1% of the eyes had OPGs. LN were described in 29.5% of the eyes, whereas a total of 63.4% of the eyes presented the characteristic hyperreflective lesions in IR imaging, all of them matching the underlying choroidal lesions. A mean of 2.9 ± 3.3 lesions per eye and a median total lesion area of 1.52 mm2 were found. The presence of OPGs was correlated with a greater number (P = 0.004) and a larger area (P = 0.006) of IR lesions. For a cut-off of 3.5 lesions per eye, the sensitivity and specificity for the presence of OPGs were 75% and 80%, respectively. For a total lesion area of 2.77 mm2, the sensitivity and specificity for the presence of OPGs were 69.2% and 93.1%, respectively. Eyes with OPGs presented a significant reduction in the temporal RNFL (P = 0.018) thickness, as well as a reduction in subfoveal choroid thickness (P = 0.04). No relations were found between CNS hamartomas and ophthalmological findings. CONCLUSIONS: This study suggests that focal choroidal abnormalities are correlated with the presence of CNS lesions as OPGs in patients with NF-1, and it might be a surrogate for the need for CNS imaging in these patients.


Asunto(s)
Hamartoma , Neurofibromatosis 1 , Glioma del Nervio Óptico , Adolescente , Adulto , Niño , Coroides/patología , Femenino , Humanos , Masculino , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/patología , Glioma del Nervio Óptico/patología , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Adulto Joven
14.
Case Rep Ophthalmol ; 12(3): 749-760, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34720973

RESUMEN

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a variant of c.2192G>A in exon 18 and c.1670G>A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the PDE6C gene that leads to ACHM.

15.
Case Rep Ophthalmol ; 12(3): 816-823, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34720983

RESUMEN

The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent choroidal deposition of glycosaminoglycans (GAGs). A 21-year-old male with genetically confirmed diagnosis of MPS IVA was examined at our Pediatric Ophthalmology clinic as part of our follow-up protocol for MPS patients. His best-corrected visual acuity was 4/10 in his right eye (OD) and 6/10 in the left eye (OS). Mild diffuse corneal opacification was evident. Intraocular pressure was within normal range. Fundus examination and color fundus photography revealed no abnormalities. EDI-OCT revealed significantly increased choroidal thickness in his right eye and in his left eye, suggesting the presence of choroidal deposition of GAGs, despite absence of retinal or optic disc GAG deposition or other chorioretinal involvement. To our knowledge, this is the first case of MPS IVA described in the literature with suspected choroidal deposition of GAGs. With improved control of systemic features of MPS IVA, life expectancy of these patients has increased, allowing for more ocular manifestations to develop. The parallel development of technology in ophthalmology, such as the EDI-OCT, further contributes to the detection of these unprecedented ocular features in MPSs.

16.
Case Rep Ophthalmol Med ; 2021: 8866837, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34306784

RESUMEN

PURPOSE: To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Case Report. We describe a case of a 12-year-old female with a biochemical and genetic diagnosis of MPS I. She underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and she had bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. En face OCT imaging revealed two hyperreflective rings on the outer retinal level. CONCLUSION: This patient developed macular changes with foveal deposition of hyperreflective material and parafoveal thinning, despite early systemic treatment. Systemic therapies can provide an increase in life expectancy and stabilize visual acuity and corneal clouding, although their effect on retinal degeneration is unknown.

17.
Biotechnol Prog ; 37(3): e3131, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33511791

RESUMEN

The objective of this study was to compare the potential of mono-rhamnolipids (mono-RML) and di-rhamnolipids (di-RML) against biofilm formation on carbon steel coupons submitted to oil produced water for 14 days. The antibiofilm effect of the RML on the coupons was analyzed by scanning electron microscopy (SEM) and by epifluorescence microscopy, and the contact angle was measured using a goniometer. SEM analysis results showed that all RML congeners had effective antibiofilm action, as well as preliminary anticorrosion evaluation confirmed that all RML congeners prevented the metal deterioration. In more detail, epifluorescence microscopy showed that mono-RML were the most efficient congeners in preventing microorganism's adherence on the carbon steel metal. Image analyses indicate the presence of 15.9%, 3.4%, and <0.1% of viable particles in di-RML, mono/di-RML and mono-RML pretreatments, respectively, in comparison to control samples. Contact angle results showed that the crude carbon steel coupon presented hydrophobic character favoring hydrophobic molecules adhesion. We calculated the theoretical polarity of the RML congeners and verified that mono-RML (log P = 3.63) presented the most hydrophobic character. This had perfect correspondence to contact angle results, since mono-RML conditioning (58.2°) more significantly changed the contact angle compared with the conditioning with one of the most common surfactants used on oil industry (29.4°). Based on the results, it was concluded that rhamnolipids are efficient molecules to be used to avoid biofilm on carbon steel metal when submitted to oil produced water and that a higher proportion of mono-rhamnolipids is more indicated for this application.


Asunto(s)
Biopelículas/efectos de los fármacos , Carbono/química , Decanoatos/farmacología , Glucolípidos/farmacología , Ramnosa/análogos & derivados , Acero/química , Interacciones Hidrofóbicas e Hidrofílicas , Industria del Petróleo y Gas , Aceites , Ramnosa/farmacología , Agua
18.
Front Bioeng Biotechnol ; 8: 1028, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32984289

RESUMEN

The high demand for energy and the increase of the greenhouse effect propel the necessity to develop new technologies to efficiently deconstruct the lignocellulosic materials into sugars monomers. Sugarcane bagasse is a rich polysaccharide residue from sugar and alcohol industries. The thermophilic fungus Myceliophthora thermophila (syn. Sporotrichum thermophilum) is an interesting model to study the enzymatic degradation of biomass. The genome of M. thermophila encodes an extensive repertoire of cellulolytic enzymes including 23 lytic polysaccharide monooxygenases (LPMOs) from the Auxiliary Activity family 9 (AA9), which are known to oxidatively cleave the ß-1,4 bonds and boost the cellulose conversion in a biorefinery context. To achieve a deeper understanding of the enzymatic capabilities of M. thermophila on sugarcane bagasse, we pretreated this lignocellulosic residue with different methods leading to solids with various cellulose/hemicellulose/lignin proportions and grew M. thermophila on these substrates. The secreted proteins were analyzed using proteomics taking advantage of two mass spectrometry methodologies. This approach unraveled the secretion of many CAZymes belonging to the Glycosyl Hydrolase (GH) and AA classes including several LPMOs that may contribute to the biomass degradation observed during fungal growth. Two AA9 LPMOs, called MtLPMO9B and MtLPMO9H, were selected from secretomic data and enzymatically characterized. Although MtLPMO9B and MtLPMO9H were both active on cellulose, they differed in terms of optimum temperatures and regioselectivity releasing either C1 or C1-C4 oxidized oligosaccharides, respectively. LPMO activities were also measured on sugarcane bagasse substrates with different levels of complexity. The boosting effect of these LPMOs on bagasse sugarcane saccharification by a Trichoderma reesei commercial cocktail was also observed. The partially delignified bagasse was the best substrate considering the oxidized oligosaccharides released and the acid treated bagasse was the best one in terms of saccharification boost.

19.
Biotechnol Prog ; 36(4): e2981, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32083814

RESUMEN

Rhamnolipids (RMLs) have more effectiveness for specific uses according to their homologue proportions. Thus, the novelty of this work was to compare mono-RMLs and di-RMLs physicochemical properties on microbial enhanced oil recovery (MEOR) applications. For this, RML produced by three strains of Pseudomonas aeruginosa containing different homologues proportion were used: a mainly mono-RMLs producer (mono-RMLs); a mainly di-RMLs producer (di-RMLs), and the other one that produces relatively balanced amounts of mono-RML and di-RML homologues (mono/di-RML). For mono-RML, the most abundant molecules were Rha-C10 C10 (m/z 503.3), for di-RML were RhaRha-C10 C10 (m/z 649.4) and for Mono/di-RML were Rha-C10 C10 (m/z 503.3) and RhaRha-C10 C10 (m/z 649.4). All RMLs types presented robustness under high temperature and variation of salinity and pH, and high ability for oil displacement, foam stability, wettability reversal and were classified as safe for environment according to the European Union Directive No. 67/548/EEC. For all these properties, it was observed a highlight for mono-RML. Mono-RML presented the lowest surface tension (26.40 mN/m), interfacial tension (1.14 mN/m), and critical micellar concentration (CMC 27.04 mg/L), the highest emulsification index (EI24 100%) and the best wettability reversal (100% with 25 ppm). In addition, mono-RML showed the best acute toxicity value (454 mg/L), making its application potential even more attractive. Based on the results, it was concluded that all RMLs homologues studied have potential for MEOR applications. However, results showed that mono-RML stood out and have the best mechanism of oil incorporation in micelles due their most effective surface-active physicochemical features.


Asunto(s)
Decanoatos/química , Glucolípidos/química , Petróleo/microbiología , Pseudomonas aeruginosa/química , Ramnosa/análogos & derivados , Decanoatos/farmacología , Glucolípidos/farmacología , Humanos , Ramnosa/química , Ramnosa/farmacología , Tensión Superficial/efectos de los fármacos , Tensoactivos/química , Tensoactivos/farmacología
20.
J Ophthalmol ; 2019: 3267151, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31467692

RESUMEN

PURPOSE: To evaluate the efficacy of the "fogging test," performed with a +2 diopters (D) lens, in the exclusion of clinically significant hyperopia in school-aged children. METHODS: We studied 54 children between 5 and 11 years of age, with 10/10 best-corrected bilateral visual acuity (VA) without significant degree of correction. VA was assessed in each eye with a "bilateral" +2 D sphere over-refraction followed by cycloplegic retinoscopy. The capacity of the test to detect hyperopia of ≥+2 D and ≥+1.5 D was evaluated by examining the respective receiver operating characteristic (ROC) curves and sensitivity and specificity values for different cutoff values of VA. RESULTS: For the detection of hyperopia ≥+2 D, the area under the ROC curve (AUC) was 0.955 (p ≤ 0.001). The VA cutoff with best discriminative capacity was ≥5/10, with a sensitivity of 100%, specificity of 79%, positive predictive value (PPV) of 57%, and negative predictive value (NPV) of 100%. In respect of ≥+1.5 D hyperopia, the test capacity was lower (AUC = 0.832; p ≤ 0.001). The best VA cutoff was also of ≥5/10, with a PPV of 81% and a NPV of 85%. CONCLUSION: The accuracy of the test was high for the evaluation of ≥+2 D hyperopia but lower for ≥+1.5 D hyperopia. For the detection of ≥+2 D hyperopia, the VA cutoff of <5/10 may permit the exclusion of clinically significant hyperopia in selected children, without the need for cycloplegia. For the same cutoff, the PPV was low, meaning that in children with ≥5/10 VA cycloplegic refraction remains obligatory.

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