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BACKGROUND: Botulinum Toxin (BoNTA) is the most used nonsurgical aesthetic procedure to treat facial expression lines. AIMS: This study compared the efficacy of Prabotulinum toxin-A, a novel BoNTA that originates from Clostridium botulinum Hall-A, with onabotulinum toxin-A in treating facial expression lines using the Facial Wrinkle Scale (FWS) and FACE-Q questionnaires. METHODS: This was an experimental, comparative, longitudinal, open-label, and prospective study. Patients aged between 25 and 40 years with upper-third facial expression lines were included. Follow-ups were made at three, seven, 30, and 120 days. RESULTS: A total of 26 patients were included: 20 female, and six males, with a mean age of 28.26 years. An average of 31.00 IU and 31.38 IU were administered to the onabotulinum and prabotulinum groups, respectively. The prabotulinum group demonstrated superiority in FWS and Face-Q scores between the first and third days (p ≤ 0.001, p < 0.001, respectively), which continued on day 7. By day 30, there were no differences in the scores of the two questionnaires. CONCLUSIONS: Prabotulinum toxin-A is a safe and effective treatment for upper-third facial wrinkles. On day three and seven, the results suggest that prabotulinum toxin-A has a quicker onset of action than onabotulinum toxin-A. On days 30 and 120, both groups showed similar FWS and Face-Q scores.
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PURPOSE: To determine the total alpha-synuclein (αSyn) reflex tears and its association with retinal layers thickness in Parkinson's disease (PD). METHODS: Fifty-two eyes of 26 PD subjects and 52 eyes of age-and sex-matched healthy controls were included. Total αSyn in reflex tears was quantified using a human total αSyn enzyme-linked immunosorbent assay (ELISA) kit. The retinal thickness was evaluated with spectral-domain optical coherence tomography. The Movement Disorder Society-Unified Parkinsons Disease Rating Scale (MDS-UPDRS), Non-Motor Symptoms Scale (NMSS), and Montreal Cognitive Assessment (MoCA) were used to assess motor, non-motor, and cognition. RESULTS: In PD, total αSyn levels were increased compared to control subjects [1.76pg/mL (IQR 1.74-1.80) vs 1.73pg/mL (IQR 1.70-1.77), p < 0.004]. The nerve fiber layer, ganglion cell layer, internal plexiform layer, inner nuclear layer, and outer nuclear layer were thinner in PD in comparison with controls (p < 0.05). The outer plexiform layer and retinal pigment epithelium were thicker in PD (p < 0.05). The total αSyn levels positively correlated with the central volume of the inner nuclear layer (r = 0.357, p = 0.009). CONCLUSION: Total αSyn reflex tear levels were increased in subjects with PD compared to controls. PD patients showed significant thinning of the inner retinal layers and thickening of outer retinal layers in comparison with controls. Total αSyn levels positively correlate with the central volume of the inner nuclear layer in PD. The combination of these biomarkers might have a possible role as a diagnostic tool in PD subjects.
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Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/diagnóstico , alfa-Sinucleína , Fibras Nerviosas , Retina , Epitelio Pigmentado de la Retina , Tomografía de Coherencia Óptica/métodosRESUMEN
PURPOSE: The purpose of this double-masked, parallel randomised controlled trial was to compare the recurrence rate and other outcomes between conjunctival-limbal autograft (CLAu) and mini-simple limbal epithelial transplantation (mini-SLET) after excision of pterygium. METHODS: Eligibility criteria for participants was the presence of a primary nasal pterygium extending equally to or greater than two millimetres on the cornea on its horizontal axis from the nasal limbus. The participants were allocated into two groups (CLAu and mini-SLET) using simple randomisation with a table of random numbers. Participants and the outcome assessor were masked to the intervention. The study protocol is listed and available on https://clinicaltrials.gov (Identifier: NCT03363282). RESULTS: A total of 61 eyes were enrolled in the study, 33 underwent CLAu (group 1) and 28 mini-SLET (group 2), all eyes were analysed in each group. At 2, 3, 6 and 12 months the CLAu group exhibited a recurrence of 0%, 6.1%, 8.1% and 8.1%, while the mini-SLET exhibited a recurrence of 0%, 17.9%, 50% and 53.5% (p<0.05). There were no intraoperative or postoperative complications in either of the two groups. CONCLUSION: The findings of this study suggest that mini-SLET has a higher recurrence rate and provides no advantage over CLAu in the treatment of primary pterygium.
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Limbo de la Córnea , Pterigion , Humanos , Pterigion/cirugía , Autoinjertos , Conjuntiva/trasplante , Trasplante Autólogo , Limbo de la Córnea/cirugía , Recurrencia , Resultado del Tratamiento , Estudios de SeguimientoRESUMEN
Lymphoepithelioma-like carcinoma (LELC) of the conjunctiva is a rare malignancy in the ocular adnexa. There are no prospective data regarding treatment methods. Complete surgical excision is sufficient in the majority of cases. Radiation therapy is sometimes used in case of recurrence or positive margins after surgery. This case describes an 89-year-old Hispanic female with a 7-month history tumor primarily located on the left lower palpebral conjunctiva. The patient underwent an excisional biopsy of the tumor, and histopathology exam reported an LELC with positive margins. She developed parotid and neck lymph node metastasis treated with concurrent radiotherapy. The patient had remained disease-free for 3 years. According to the available data, there are only five cases of LELC reported in conjunctiva worldwide, so this report increases the differential diagnoses of tumors in the ocular adnexa and supports the effectiveness of radiotherapy.
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INTRODUCTION: Functional and anatomical success after canalicular laceration repair using only Crawford bicanalicular stents was evaluated in a ophthalmological teaching center. The objective of this study was to evaluate functional and anatomical success after canalicular laceration repair using Crawford bicanalicular stents. MATERIALS AND METHODS: Records of patients with canalicular laceration repair performed from 2010 to 2019 at Ophthalmology Institute Conde de Valenciana in Mexico City were reviewed. Demographic data, injury mechanism and complications were recorded. Anatomical success was assessed with canalicular irrigation and functional success was evaluated using Munk score. Phi correlation coefficient was used to compare the correlation between epiphora and lack of permeability of injured canaliculus and the presence of complications at 6th month postoperative visit. RESULTS: Two-hundred eight patients with lacrimal canalicular injury reconstruction were documented during the study period. The most common age of presentation and etiology was from 21 to 30 years old and injury with a sharp object, respectively. 96 patients were included for the correlation analysis. At 6th month, anatomical success was found in 75% and functional success was found in 77.8%. A statistically significant and directly proportional linear was found between the presence of epiphora and lack of permeability of injured canaliculus, (rφ 0.76, p <0.05) and between the presence of epiphora and postoperative complications, (rφ 0.509, p <0.05). CONCLUSION: Crawford bicanalicular stents are a valid and accessible option for canalicular laceration repair. Our success rate of lacrimal canalicular lacerations repaired with bicanalicular stents in a Mexican teaching hospital matches worldwide literature. Factors involved in the functional and anatomical success of the reconstruction include presence of postoperative complications and permeability of canaliculus after surgery.
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Lesiones Oculares , Laceraciones , Enfermedades del Aparato Lagrimal , Aparato Lagrimal , Adulto , Lesiones Oculares/cirugía , Humanos , Intubación , Laceraciones/diagnóstico , Laceraciones/cirugía , Aparato Lagrimal/cirugía , Enfermedades del Aparato Lagrimal/diagnóstico , Enfermedades del Aparato Lagrimal/cirugía , México/epidemiología , Complicaciones Posoperatorias , Derivación y Consulta , Stents , Adulto JovenRESUMEN
Adenoid cystic carcinoma (ACC) is a slow-growing, locally invasive tumor of epithelial origin. The common sites of origin are the minor and major salivary glands and also the lacrimal glands. ACC accounts for 4.8% of primary orbital neoplasms and commonly arises superolaterally from the main lacrimal gland. Primary ACC of the orbit from an extra lacrimal region is quite rare. We present a case of ACC that occurred in ectopic lacrimal gland tissue involving the medial region of both orbits. A 74-year-old woman was admitted with a 4-week history of progressive painful proptosis in her left eye. Examination revealed a medium-size bilateral nasal canthal mass. Computed tomography (CT) scan revealed a nasal mass in both orbits with bone erosion. The patient underwent bilateral anterior orbitotomy and incisional biopsy was performed. Histopathology exam revealed an ACC with perineural and bone invasion. She refused orbital exenteration and radiation therapy was initiated.
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Carcinoma Adenoide Quístico , Neoplasias del Ojo , Enfermedades del Aparato Lagrimal , Aparato Lagrimal , Neoplasias Orbitales , Anciano , Carcinoma Adenoide Quístico/diagnóstico por imagen , Carcinoma Adenoide Quístico/cirugía , Neoplasias del Ojo/cirugía , Femenino , Humanos , Aparato Lagrimal/diagnóstico por imagen , Enfermedades del Aparato Lagrimal/cirugía , Órbita , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/cirugíaRESUMEN
Hereditary mucoepithelial dysplasia (HMD) is an uncommon autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa. To date, 20 familial or sporadic HMD cases have been described, most of them originating from Caucasian ethnic groups. In this study, a novel HMD pedigree, including an affected father and his daughter, is reported. Clinical expression showed significant differences in affected subjects, especially in the distribution and severity of skin lesions. Exome sequencing demonstrated that both affected subjects carried a heterozygous c.1669C>T (p.Arg557Cys) pathogenic variant in the SREBF1 gene. Our results improve the knowledge of the clinical and genetic features of HMD. In addition, a comparative review of the clinical features of all published HMD cases is presented.
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Alopecia/patología , Secuenciación del Exoma/métodos , Queratosis/patología , Mutación , Fenotipo , Anomalías Cutáneas/patología , Proteína 1 de Unión a los Elementos Reguladores de Esteroles/genética , Adulto , Alopecia/genética , Niño , Femenino , Heterocigoto , Humanos , Queratosis/genética , Masculino , Membrana Mucosa/patología , Linaje , Anomalías Cutáneas/genéticaRESUMEN
PURPOSE: To present the clinical picture and radiological characteristics of orbital manifestations of granulomatosis with polyangiitis in a Mexican hospital and compare them with worldwide literature. METHODS: Retrospective, observational study from January 2007 to January 2019. An electronic file review was performed. All patients with the diagnosis of granulomatosis with polyangiitis (GPA) in the Oculoplastics department were included. Ophthalmological examination, biopsy, antibodies and tomographical results were included in the data collected. Descriptive statistics were obtained. RESULTS: One hundred and one patients in our institute had a diagnosis of GPA. Only 15 (14.8%) had orbital manifestations and were included in our study. 73.3% were female with a median age of 46.20 years (17-81). Diagnostic delay was on average 6 months. Only 6.7% had bilateral manifestations. No past medical history was found in 40%, 20% had a previous diagnosis of systemic GPA. Pain was reported in 73.3%. Increase of volume (proptosis or diffuse orbital mass) was present in 86.7%. C-ANCA antibodies were positive in seven patients (46.7%). In tomography, lacrimal gland involvement was present in 33.3% and diffuse orbital mass was present in 66.6%. Definite diagnosis was done with biopsy in 93.3%. One patient died from complications of GPA. CONCLUSIONS: Ophthalmologists should consider this rare disease as a differential diagnosis of orbital tumors, as it may have different clinical manifestations, even in non-Caucasian population. When in doubt, biopsy is always valuable. The statistics at our reference center correspond with statistics reported worldwide.
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Granulomatosis con Poliangitis/diagnóstico por imagen , Enfermedades Orbitales/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Diagnóstico Tardío , Diagnóstico Diferencial , Femenino , Humanos , Masculino , México , Persona de Mediana Edad , Radiografía , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population.
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Blefarofimosis/genética , Proteína Forkhead Box L2/genética , Anomalías Cutáneas/genética , Anomalías Urogenitales/genética , Adolescente , Adulto , Blefarofimosis/fisiopatología , Niño , Preescolar , Estudios de Cohortes , Párpados/metabolismo , Femenino , Proteína Forkhead Box L2/fisiología , Factores de Transcripción Forkhead/genética , Humanos , Lactante , Recién Nacido , Masculino , México , Persona de Mediana Edad , Mutación , Fenotipo , Anomalías Cutáneas/fisiopatología , Anomalías Urogenitales/fisiopatologíaRESUMEN
Purpose: To describe and evaluate the eyelash transplantation with strip composite eyebrow graft to improve eyelid anatomy in tarsoconjunctival flap eyelid reconstruction procedure. Methods: Twenty two patients with eyelid tumors managed by local excision and reconstruction using tarsoconjunctival flap reconstruction procedure were included. Eyelash graft was performed during flap division by harvesting a graft from the eyebrow and creating a recipient pocket in the receptor eyelid. Patients had a 1-year follow up. Eyelash orientation and follicle survival rate were recorded. Demographic variables were analyzed with descriptive statistics. For eyelash follicles survival rate assessment, we evaluated the number of follicles found in the first postoperative day with the follicles found at the end of the study using the Wilcoxon signed rank test. P < 0.05 was considered statistically significant. Results: All eyelash grafts showed a good follicle orientation and no cases of eyelashes misdirection toward the eyeball were reported. No statistical differences (p > 0.05) were found in Wilcoxon signed rank test when comparing the number of follicles present at the first postoperative day and the number of follicles present at the 12th postoperative month, meaning that the vast majority of follicles survived at the end of the study. Graft ischemia, necrosis or infection were not observed. Conclusions: Tarsoconjunctival flap is an outstanding option for eyelid reconstruction and eyelash transplantation with an eyebrow composite graft is an excellent procedure to enhance and recreate a normal eyelid.
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Conjuntiva/cirugía , Cejas/trasplante , Pestañas/trasplante , Párpados/cirugía , Cabello/trasplante , Procedimientos de Cirugía Plástica , Colgajos Quirúrgicos , Anciano , Carcinoma de Células de Merkel/patología , Carcinoma de Células de Merkel/cirugía , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/cirugía , Neoplasias de los Párpados/patología , Neoplasias de los Párpados/cirugía , Femenino , Folículo Piloso/fisiología , Humanos , Masculino , Persona de Mediana Edad , Técnicas de SuturaRESUMEN
OBJECTIVE: To describe the management, complications and prognosis of lacrimalprobing in patients with congenital nasolacrimal duct obstruction (CNLDO). MATERIALS AND METHODS: Retrospective, observational and analytical study. We studied the prevalence, symptoms and signs, both before and after probing, in patients with CNLDO diagnosed between 2010 and 2017 at Instituto Fundación Conde deValenciana. RESULTS: The prevalence at our hospital of congenital nasolacrimal duct obstruction in children less than 1 year of age was 16.1%. 71 eyes of 56 patients undergoing probing were analyzed. 61% of patients were male. The right eye was affected in 46.4%.The average age of diagnosis of CNLDO was 10.2±7.6 months. 84.5% consulted for excessive tearing and 73.2% because of eye discharge. On ophthalmological examination, 71.8% had increased tear meniscus and 45.1% had discharge from punctum when digital pressure was applied to the lacrimal sac. The average age at the time of probing was 14.1±8.4 months. Subsequent to the probing, only 21.1% reported presence of tearing and 5.6% reported ocular discharge, both with a statistically significant reduction (p<0.05 from pre-op). After probing, only 16.9% of eyes had increased tear meniscus and 11.3% presented discharge from punctum after pressure at the lacrimal sac. Both decreases were statistically significant (p<0.05). 2 eyes (2.82%)of 2 patients required a second probing to obtain full resolution. CONCLUSION: Probing was successful in 76.1% of eyes. Success was observed even inpatients over 2 years of age. There was a statistically significant decrease of both signs and symptoms of CNLDO with lacrimal probing.
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Dacriocistorrinostomía/métodos , Obstrucción del Conducto Lagrimal/congénito , Conducto Nasolagrimal/cirugía , Instituciones de Atención Ambulatoria , Preescolar , Punción Seca , Femenino , Humanos , Lactante , Obstrucción del Conducto Lagrimal/diagnóstico , Obstrucción del Conducto Lagrimal/epidemiología , Masculino , México/epidemiología , Conducto Nasolagrimal/patología , Oftalmología , Prevalencia , Estudios Retrospectivos , Lágrimas/fisiologíaRESUMEN
INTRODUCTION: Ocular surface squamous neoplasia (OSSN) is the most common nonpigmented ocular surface neoplasm and it can originate from the conjunctiva and/ or corneal epithelium. Since the rate of recurrence after surgical excision is high, chemotherapeutic and immunotherapeutic agents such as interferon alpha-2b (IFN α-2b) have been used for its treatment. OBJECTIVE: Our objective is to describe the demographic variables of patients with OSSN treated with IFN α-2b and to describe the outcomes of its use in Mexican patients, treated between 2011 and 2017 at Instituto de Oftalmología Fundación Conde de Valenciana. MATERIALS AND METHODS: This is a non-randomized retrospective interventional case series. We reviewed the files of patients older than 18 years, with clinical and/or histopathological diagnosis of OSSN, treated with IFN α-2b alone or in combination with surgery, with a minimum of 6 months follow-up. We studied demographic variables, such as gender, age, eye affected and associated risks factors; we also studied the type of therapy with interferon (topical, intralesional and/or associated with surgery), time of treatment, time of follow up, recurrences and complications. RESULTS: A total of 39 patients were included. The mean age of diagnosis was 61 ± 16 years and OSSN was more frequent in males (64.1% of cases). Most of the cases (43.6%) had no identifiable risk factors. The mean time of IFN α-2b treatment was 5 ± 2 months, being higher in the intralesional group (6.5 months) than in the topical group (4.2 months). The clinical resolution with the use of IFN α-2b was evidenced between 0.5 and 10 months, being achieved in 87.1% of the patients. CONCLUSIONS: The use of IFN α-2b is effective for the treatment of OSSN with a high success rate (87.1%) and a low incidence of relapse (5 cases), with no reported complications during follow up.
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Carcinoma de Células Escamosas/tratamiento farmacológico , Neoplasias del Ojo/tratamiento farmacológico , Interferón alfa-2/administración & dosificación , Administración Tópica , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antineoplásicos/administración & dosificación , Carcinoma de Células Escamosas/diagnóstico , Conjuntiva/patología , Relación Dosis-Respuesta a Droga , Epitelio Corneal/patología , Neoplasias del Ojo/patología , Femenino , Humanos , Inyecciones Intralesiones , Masculino , Persona de Mediana Edad , Soluciones Oftálmicas/administración & dosificación , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Alveolar Soft Part Sarcoma is a rare malignant tumor of uncertain histogenesis, representing 0.5-1% of all soft tissue tumors. It occurs predominantly in head and neck regions, especially the orbit and the tongue, in infants, causing no specific symptoms for an extended period of time. CASE: A four year old girl was brought to consultation because of persistent swelling of her left upper and lower eyelid for the past six months. A 4 mm proptosis was noted on her left eye with significant upwards displacement of the globe. A firm, not pulsating and non tender mass was palpated, and motility examination revealed deficient abduction and infraduction. Visual acuity was 20/40 and 1/200 in the right and left eye, respectively. The computed tomography revealed an extraconal mass on the inferotemporal aspect of the left orbit, with no bony erosion or globe invasion. An excisional biopsy was made, finding a tumor with nests of clusters of large polygonal cells, separated by fibrous septa and a sinusoidal vascular channel. An Alveolar Soft Part Sarcoma was diagnosed. Our patient had a favorable post-operative follow up, and oncologic evaluations have not shown metastasis or local recurrences. Observations and Conclusions: Alveolar Soft Part Sarcoma is a rare malignant tumor of indolent course, but with propensity to distant metastases, making early diagnose and long term follow up necessary.
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Órbita/diagnóstico por imagen , Neoplasias Orbitales/diagnóstico , Sarcoma de Parte Blanda Alveolar/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Biopsia , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Procedimientos Quirúrgicos Oftalmológicos/métodos , Neoplasias Orbitales/cirugía , Sarcoma de Parte Blanda Alveolar/cirugíaRESUMEN
PURPOSE: To evaluate the efficacy of botulinum toxin type A injection to cause orbicularis eyelid muscle paralysis to improve dry eye signs and symptoms. METHODS: A prospective, randomized, comparative eye-to-eye and interventional study was performed. Patients with dry eye symptoms and positive fluorescein corneal staining were included. Randomly one eyelid received a subcutaneous injection of botulinum toxin in the medial orbicularis muscle portion of the lower eyelid, and the other eye received placebo. The subjective evaluation was achieved with a questionnaire assessing symptoms, quality of vision and ocular comfort level. The objective evaluation included the measurement of the tear film break-up time (TBUT), Schirmer's test and corneal and conjunctival staining. RESULTS: Twenty patients were included with a mean age of 59.5 years. Two weeks after the botulinum toxin injection, all patients showed a decrease in the horizontal movement of the lower eyelid when blinking. The eyes in the active treatment group showed better scores compared with the sham group in four symptoms 4 weeks after the treatment. The TBUT was higher at 1 and 3 months in the active treatment group. The corneal and conjunctival staining were significantly lower in the active treatment group at 1 and 3 months, and the Schirmer's test showed better measurements in the same group at 2 weeks, 1 month and 3 months. There were no adverse events reported. CONCLUSIONS: The injection of botulinum toxin A in the medial part of the lower eyelid is an effective and safe procedure that temporally improves some of the signs and symptoms of patients with dry eye.
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Parpadeo/fisiología , Toxinas Botulínicas Tipo A/efectos adversos , Síndromes de Ojo Seco/tratamiento farmacológico , Movimientos Oculares/efectos de los fármacos , Músculos Oculomotores/efectos de los fármacos , Oftalmoplejía/inducido químicamente , Anciano , Toxinas Botulínicas Tipo A/administración & dosificación , Síndromes de Ojo Seco/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Fármacos Neuromusculares/administración & dosificación , Fármacos Neuromusculares/efectos adversos , Músculos Oculomotores/fisiopatología , Oftalmoplejía/diagnóstico , Oftalmoplejía/fisiopatología , Estudios ProspectivosRESUMEN
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 (PABPN1) gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations. Analysis of large groups of patients with OPMD from different ethnic origins will help to estimate the relative contribution of each expanded allele to the disease. The purpose of this study was to characterize the type of PABPN1 expanded alleles in a large cohort of OPMD individuals from Mexico. Molecular analysis procedures included genomic DNA extraction from blood leukocytes in each patient followed by PCR amplification of PABPN1 exon 1, and direct nucleotide sequencing of PCR products. A total of 102 patients with OPMD were included in the study. Expanded PABPN1 gene alleles were demonstrated in all patients: 65% (66 out of 102) had a (GCN)15 expansion while the remaining 35% (36 out of 102) exhibited a (GCN)13 expansion. This is one of the largest series of molecularly confirmed patients with OPMD in a non-Caucasian population. Ethnic-specific differences in the prevalence of specific PABPN1 expansions must be considered for genetic screening of patients with OPMD.
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Distrofia Muscular Oculofaríngea/genética , Proteína I de Unión a Poli(A)/genética , Expansión de Repetición de Trinucleótido/genética , Secuencia de Bases , Estudios de Cohortes , Femenino , Humanos , Masculino , México , Persona de Mediana Edad , Mutación , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: Less invasive and noninvasive methods are emerging for haemodynamic monitoring. Among them is Capstesia, a smartphone app that, from photographs of a patient monitor showing invasive arterial pressure, estimates advanced haemodynamic variables after digitising and analysing the pressure curves. OBJECTIVE: The aim of this study was to compare the level of agreement between the analysis of the signals obtained from the patient monitor and a photograph of the same images using the Capstesia app. DESIGN: Cross-sectional study. SETTING: Araba University hospital (Txagorritxu), Vitoria-Gasteiz, Alava, Spain, from January to February 2015. PATIENTS: Twenty patients (229 images) who had an arterial catheter (radial or femoral artery) inserted for haemodynamic monitoring. INTERVENTION: Snapshots obtained from the patient monitor and a photograph of these same snapshots using the Capstesia application were assessed with the same software (MATLAB, Mathworks, Natick, Massachusetats, USA) for evaluating the level of concordance of the following variables: pulse pressure variation (PPV), cardiac output (CO) and maximum slope of the pressure curve (dP/dt). Comparison was made using interclass correlation coefficients with corresponding 95% confidence intervals, and Bland-Altman plots with the corresponding percentages of error. MAIN OUTCOME MEASURES: (PPV). Secondary outcome: CO and maximum slope of the pressure curve [dP/dt]. RESULTS: The interclass correlation coefficients for PPV, CO and max dP/dt were 0.991 (95% confidence interval 0.988 to 0.993), 0.966 (95% confidence interval 0.956 to 0.974) and 0.962 (95% confidence interval 0.950 to 0.970), respectively. In the Bland-Altman analysis, bias and limits of agreement of PPV were (0.50%â±â1.42) resulting in a percentage of error of 20% for PPV. For CO they were 0.19â±â0.341, with a 13.8% of error. Finally bias and limits of agreement for max dP/dt were 1.33â±â77.71, resulting in an error of 14.20% CONCLUSIONS: Photograph of the screenshots obtained with the Capstesia app show a good concordance with analysis of the original screenshots. Either approach could be used to monitor the haemodynamic variables assessed.
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Presión Sanguínea/fisiología , Aplicaciones Móviles/normas , Monitoreo Intraoperatorio/métodos , Monitoreo Intraoperatorio/normas , Teléfono Inteligente/normas , Anciano , Anciano de 80 o más Años , Gasto Cardíaco/fisiología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Monitoreo Intraoperatorio/instrumentación , Reproducibilidad de los ResultadosRESUMEN
PURPOSE: The aim of the study was to evaluate the effect of 3 subconjunctival bevacizumab injections in patients with an early corneal pterygium recurrence. METHODS: This study was a nonrandomized single center trial. Patients with an early corneal pterygium recurrence were selected. All patients received 3 subconjunctival bevacizumab (2.5 mg/0.1 mL) injections (basal, 2 and 4 weeks) in the recurrence area of the pterygium. The corneal and corneal-conjunctival neovascularization areas and the corneal opacification area of each pterygium were determined using digital slit lamp pictures. RESULTS: Thirty-eight patients were enrolled into the study; all patients were injected within 3 months of the diagnosed pterygium recurrence. Interestingly, the bevacizumab injections had a significant effect (P<0.05) on the reduction of corneal, corneal-conjunctival area of neovascularization determined as pixels and on the corneal opacification area determined as mm(2) when comparing the basal values, to the values obtained after 15 days, 1 month, 3 months, 6 months, and 12 months after injections. CONCLUSIONS: The vascularized area in all recurrent pterygia and the corneal opacification area with this triple regimen of subconjunctival bevacizumab injections were reduced, which remained until the end of the study. These results suggest that bevacizumab subconjunctival injections could be useful to treat recurrent pterygium.
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Anticuerpos Monoclonales Humanizados/administración & dosificación , Pterigion/tratamiento farmacológico , Adulto , Anciano , Inhibidores de la Angiogénesis/administración & dosificación , Bevacizumab , Neovascularización de la Córnea/tratamiento farmacológico , Opacidad de la Córnea/tratamiento farmacológico , Femenino , Estudios de Seguimiento , Humanos , Inyecciones Intraoculares , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Pterigion/patología , RecurrenciaRESUMEN
The combined activity of (S)-proline and an achiral tetraphenylborate TBD-derived guanidinium salt permits the aldol reaction between azidoacetone and aromatic, or heteroaromatic aldehydes. The α-azido-ß-hydroxy methyl ketones obtained as products can be isolated in good yield, with high diastereo- and enantioselectivity.
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Azidas/química , Guanidina/química , Cetonas/química , Prolina/química , Azidas/síntesis química , Catálisis , Cetonas/síntesis química , Metilación , Estructura Molecular , EstereoisomerismoRESUMEN
BACKGROUND: To investigate the efficacy and safety of subconjunctival bevacizumab application as an adjuvant therapy for primary pterygium. DESIGN: This study was a clinical randomized trial performed at the Institute of Ophthalmology 'Conde de Valenciana'. PARTICIPANTS: Forty-nine patients with primary pterygium were enrolled in the study. METHODS: Each primary pterygium patient was randomized after pterygium excision and a conjunctival autograft to receive either a single 2.5 mg/0.1 mL dose of subconjunctival bevacizumab immediately after surgery (group 1); a double 2.5 mg/0.1 mL injection of subconjunctival bevacizumab, one immediately after surgery and the second 15 days after surgery (group 2); or no injection (group 3). MAIN OUTCOME MEASURES: Autoconjunctival graft presence or absence of ischaemia, necrosis, infection or detachment; surgical bed appearance; and pterygium recurrence at 1-year follow-up period were determined. RESULTS: Forty-nine eyes of 49 patients were included. Sixteen patients were assigned to group 1, 17 to group 2 and 16 to group 3. Patients from groups 1 and 2 showed conjunctival autograft ischaemia at 24 h postoperative (37.5% and 58.8%, respectively, P > 0.05), which disappeared by the first postoperative month. No significant difference in the main outcome measures was found among single versus double-dose of subconjunctival bevacizumab injection patients. At the end of the study, pterygium recurrences were observed only in group 3 (P < 0.04). CONCLUSIONS: A single 2.5 mg/mL subconjunctival bevacizumab injection in conjunction with primary pterygium surgery accomplishing a conjunctival autograft procedure is safe and well tolerated, and is capable of preventing pterygium recurrences when compared with a control group.
Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Conjuntiva/trasplante , Pterigion/tratamiento farmacológico , Pterigion/cirugía , Adulto , Anciano , Inhibidores de la Angiogénesis/administración & dosificación , Anticuerpos Monoclonales Humanizados/administración & dosificación , Bevacizumab , Terapia Combinada , Conjuntiva/irrigación sanguínea , Femenino , Humanos , Inyecciones Intraoculares , Isquemia/fisiopatología , Masculino , Persona de Mediana Edad , Pterigion/diagnóstico , Prevención Secundaria , Trasplante Autólogo , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidoresRESUMEN
Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma.