HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis.

Until recently, neuromyelitis optica (NMO) was considered to be a sub-type of multiple sclerosis (MS), which has a strong predilection for Caucasian populations, whereas NMO is more frequent in non-Caucasian individuals. The objective of this study was to compare the HLA-DRB profile in Brazilian Mulatto patients with NMO spectrum disorders (NMOSDs) with that observed for Mulatto MS patients and healthy Mulatto controls. Twenty seven NMOSD patients (20 women), all seropositive for NMO-IgG, 29 MS patients and 28 Mulatto healthy blood donors were evaluated for HLA-DRB allele groups. HLA-DRB1*03 allele group was overrepresented in NMO patients compared with healthy controls (p = 0.0401; OR = 3.23, 95%CI: 1.07-9.82). In contrast, the HLA-DRB1*15 allele group was overrepresented in Brazilian MS patients (OR = 15.89, 95%CI: 3.51-71.85; p < 0.0001). DRB3 was overrepresented in NMO (p = 0.0064), and DRB5 overrepresented in MS patients (p = 0.0001). The low frequency of HLA-DRB1*15 alleles was associated with the presence of long and central cord lesions at magnetic resonance. In addition, DRB1*15 alleles were associated with the fulfillment of the Barkhof criteria. In conclusion, these results indicate that the DRB profile of NMO patients is different from that observed for MS patients, further corroborating the distinction between NMO and MS.

Clinical, Demographic, and Tomographic Aspects Related to Iris Mammillations Among Patients With Keratoconus: A Cross-Sectional Study.

PURPOSE: Iris mammillations (IM) were previously described in patients with keratoconus, but the clinical implications of this finding have never been studied. Our aim was to investigate demographic, tomographic, and clinical characteristics potentially associated with the presence of IM among patients with keratoconus. METHODS: This was a cross-sectional study performed among patients with keratoconus in a public-affiliated university hospital. All patients under follow-up were considered eligible to participate in the study. Participants were evaluated by 2 trained ophthalmologists and submitted to corneal tomography (Pentacam). Selected demographic, clinical, and tomographic characteristics were assessed and compared among participants with IM (IM group) and without IM (No-IM group) using the Wilcoxon test or 2-tailed Fisher exact test, as appropriate. RESULTS: The study population consisted of 106 subjects and 19 (17.9%) presented with IM. The median age and interquartile range were 18 years old (14-24) in the IM group and 20 years old (17-24) in the No-IM group (P = 0.135). The female proportion was 47.3% in the IM group and 52.8% in the No-IM group (P = 0.801). Median (interquartile ranges) pachymetric values of the right eyes were 498 (466-525) for the IM group and 459 (421-482) for the No-IM group (P = 0.005). For the left eyes, the values were 490 (456-523) in the IM group and 450 (418-485) in the No-IM group (P = 0.024). CONCLUSIONS: Subjects with keratoconus presenting with IM have thicker corneas than those without IM. Follow-up studies should be performed to evaluate the clinical implications of this finding.

Are iris mammillations correlated with keratoconus?

PURPOSE: To describe the presence of iris mammillations (IM) in keratoconus. DESIGN: Retrospective case series and literature review. OBSERVATIONS: This is a retrospective case series of eight patients presenting with keratoconus and IM, who were examined between January 2016 and December 2017 in the ophthalmology outpatient clinic. They had a median age of 14 (11-30), and all had bilateral keratoconus and diffusely distributed IM. The IM had similar presentations and similar iris colors. None had relevant medical or family diseases associated with IM. Three eyes previously had penetrating keratoplasty. Four (31%) out of 13 eyes had mean keratometry (Km) > 55D, and 4 (31%) had the thinnest pachymetry between 300 and 400µm. CONCLUSIONS AND IMPORTANCE: To the best of our knowledge , this is the first time that IM was observed in association with keratoconus patients. The possibility that IM is an early finding in otherwise healthy patients may help to predict the future diagnosis of keratoconus. Future studies are needed to show the frequency and possible association between IM and a keratoconus prognosis. This may also demonstrate that there is a subgroup of patients with a distinct etiology of keratoconus.

An unusual chiasmal visual defect in a patient with neuromyelitis optica: case report.

PURPOSE: To report the unusual visual field finding due to a chiasmal neuritis in a 33-year-old female with the diagnosis of optic neuromyelitis optica (Devic's syndrome). METHODS: We report a case of a 33 years old female with limb paraesthesias, weakness in the legs, bowel and bladder dysfunction that was referred to the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo" in October 1995. Six years and four months later she had an acute visual involvement. Ophthalmologic examination, laboratory studies, magnetic resonance imaging (MRI) and a 24-2 threshold visual field in the Humphrey field analyzer were performed. RESULTS: The MRI scan showed enlargement and cavitation on the spinal cord and chiasmal involvement (thickening of the chiasm with contrast enhancement) and no demyelinating lesions in the brain, brainstem, or cerebellum. The central 24-degree threshold field examination showed an inferior visual field defect bitemporally, disclosing a chiasmal involvement. CONCLUSION: Chiasmal involvement may occur in neuromyelitis optica, probably due to a plaque within the chiasm. The authors call attention to the importance of visual field examination with particular regard to quantifying the visual impairment and follow-up of these patients.

European ancestry predominates in neuromyelitis optica and multiple sclerosis patients from Brazil.

BACKGROUND: Neuromyelitis optica (NMO) is considered relatively more common in non-Whites, whereas multiple sclerosis (MS) presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs) to estimate the genetic ancestry contribution to NMO patients. METHODS: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP), Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP). PRINCIPAL FINDINGS: European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7%) patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5%) patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. CONCLUSIONS: Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil.

Intramuscular innervation of primate extraocular muscles: unique compartmentalization in horizontal recti.

PURPOSE: It has been proposed that the lateral rectus (LR), like many skeletal and craniofacial muscles, comprises multiple neuromuscular compartments subserving different physiological functions. To explore the anatomic potential of compartmentalization in all four rectus extraocular muscles (EOMs), evidence was sought of possible regional selectivity in intramuscular innervation of all rectus EOMs. METHODS: Whole orbits of two humans and one macaque monkey were serially sectioned at 10 µm thickness and stained with Masson's trichrome. Three-dimensional reconstruction was performed of the intramuscular courses of motor nerves from the deep orbit to the anterior extents of their arborizations within all four rectus EOMs in each orbit. RESULTS: Findings concorded in monkey and human orbits. Externally to the global surface of the lateral (LR) and medial rectus (MR) EOMs, motor nerve trunks bifurcated into approximately equal-sized branches before entering the global layer and observing a segregation of subsequent arborization into superior zones that exhibited minimal overlap along the length of the LR and only modest overlap for MR. In contrast, intramuscular branches of the superior and the nasal portion of the inferior rectus were highly mixed. CONCLUSIONS: Consistent segregation of intramuscular motor nerve arborization suggests functionally distinct superior and inferior zones within the horizontal rectus EOMs in both humans and monkeys. Reduced or absent compartmentalization in vertical rectus EOMs supports a potential functional role for differential innervation in horizontal rectus zones that could mediate previously unrecognized vertical oculorotary actions.

Compartmentalized innervation of primate lateral rectus muscle.

PURPOSE: Skeletal and craniofacial muscles are frequently composed of multiple neuromuscular compartments that serve different physiological functions. Evidence of possible regional selectivity in LR intramuscular innervation was sought in a study of the anatomic potential of lateral rectus (LR) muscle compartmentalization. METHODS: Whole orbits of two humans and five macaque monkeys were serially sectioned at 10-microm thickness and stained with Masson trichrome. The abducens nerve (CN6) was traced anteriorly from the deep orbit as it branched to enter the LR and arborized among extraocular muscle (EOM) fibers. Three-dimensional reconstruction was performed in human and monkey orbits. RESULTS: Findings were in concordance in the monkey and human orbits. External to the LR global surface, CN6 bifurcated into approximately equal-sized trunks before entering the global layer. Subsequent arborization showed a systematic topography, entering a well-defined inferior zone 0.4 to 2.5 mm more posteriorly than branches entering the largely nonoverlapping superior zone. Zonal innervation remained segregated anteriorly and laterally within the LR. CONCLUSIONS: Consistent segregation of intramuscular CN6 arborization in humans and monkeys suggests functionally distinct superior and inferior zones for the LR. Since the LR is shaped as a broad vertical strap, segregated control of the two zones could activate them separately, potentially mediating previously unappreciated but substantial torsional and vertical oculorotary LR actions.

Combined trabeculotomy-trabeculectomy as a first surgical procedure for primary congenital glaucoma.

Early surgical results (mean follow-up = 163 days) following combined trabeculotomy-trabeculectomy as a first surgical procedure for 20 consecutive cases in 14 children with primary congenital glaucoma were retrospectively examined. Mean pretreatment intraocular pressure was 25.55 +/- 9.58 mmHg, decreasing to 14.55 +/- 6.15 mmHg following treatment. Primary combined trabeculotomy-trabeculectomy was a useful initial procedure to control intraocular pressure in primary congenital glaucoma.

An unusual chiasmal visual defect in a patient with neuromyelitis optica: case report

PURPOSE: To report the unusual visual field finding due to a chiasmal neuritis in a 33-year-old female with the diagnosis of optic neuromyelitis optica (Devic's syndrome). METHODS: We report a case of a 33 years old female with limb paraesthesias, weakness in the legs, bowel and bladder dysfunction that was referred to the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo" in October 1995. Six years and four months later she had an acute visual involvement. Ophthalmologic examination, laboratory studies, magnetic resonance imaging (MRI) and a 24-2 threshold visual field in the Humphrey field analyzer were performed. RESULTS: The MRI scan showed enlargement and cavitation on the spinal cord and chiasmal involvement (thickening of the chiasm with contrast enhancement) and no demyelinating lesions in the brain, brainstem, or cerebellum. The central 24-degree threshold field examination showed an inferior visual field defect bitemporally, disclosing a chiasmal involvement. CONCLUSION: Chiasmal involvement may occur in neuromyelitis optica, probably due to a plaque within the chiasm. The authors call attention to the importance of visual field examination with particular regard to quantifying the visual impairment and follow-up of these patients.

OBJETIVO: Relatar o caso de uma mulher de 33 anos de idade, com o diagnóstico de neuromielite óptica (síndrome de Devic) acometendo o quiasma óptico que apresentou um escotoma incomum no exame de campo visual. MÉTODOS: Uma paciente do sexo feminino, portadora de parestesias nos membros inferiores, fraqueza nas pernas, disfunção da defecação e disfunção urinária, foi encaminhada para o Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo em outubro do ano de 1995. Seis anos e quatro meses mais tarde ela sofreu acometimento visual agudo. Foram realizados exame oftalmológico completo, exame de líquor, ressonância nuclear magnética e um exame de campo visual no perímetro de Humphrey. RESULTADOS: A ressonância magnética revelou espessamento e imagens de cavitações na medula espinal, assim como espessamento do quiasma óptico, acompanhado de aumento na captação do contraste. Não apareceu imagem sugestiva de processo desmielinizante no cérebro, tronco cerebral ou cerebelo. O exame 24-2 (campo visual central) demonstrou defeito bitemporal inferior, revelando assim o comprometimento do chiasma. CONCLUSÃO: Comprometimento do quiasma óptico pode ocorrer nos casos de neuromielite óptica, provavelmente devido a uma placa de desmielinização ocorrendo no quiasma. Os autores enfatizam a importância do exame de campo visual para quantificar o comprometimento das vias ópticas e acompanhar a evolução destes pacientes.

Eficácia da associação de métodos diagnósticos no rastreamento do glaucoma / Evaluation of test associations in glaucoma screening

OBJETIVO: Estudar a eficácia da associação de testes diagnósticos na detecção de pacientes com glaucoma. MÉTODOS: Quarenta e seis olhos de 46 indivíduos com relação escavação/disco >0,4 ou com assimetria de escavação >0,2 foram submetidos a tonometria, campimetria de estímulos supraliminares (CES) e limiares (CEL). A seleção dos pacientes foi realizada por meio de oftalmoscopia direta e a campimetria de estímulos liminares foi adotada como padrão-ouro (gold standard) para o diagnóstico de glaucoma. RESULTADOS: A probabilidade de haver alterações na campimetria de estímulos liminares em olhos com relação escavação/disco >0,4 foi de 34,8 por cento (valor preditivo positivo). A sensibilidade, especificidade e os "likelihood ratios" positivo e negativo da campimetria de estímulos supraliminares foram, respectivamente, 75 por cento, 93 por cento, 10,7 e 0,27. Para a tonometria esses valores foram respectivamente 19 por cento, 90 por cento, 1,9 e 0,9. A associação do exame supraliminar com o exame do disco óptico aumentou a probabilidade de haver alterações na campimetria de estímulos liminares de 34,8 por cento para 85 por cento se o primeiro for positivo (alterado) e diminui para 12 por cento se este for negativo (normal). Quando o exame do disco é associado à tonometria, a probabilidade inicial aumenta de 34,8 por cento apenas para 50 por cento se o teste for positivo (PO>20 mmHg) e diminui para 32 por cento se o teste for negativo (PO<20mmHg). CONCLUSAO: A eficácia em identificar pacientes com glaucoma foi maior quando a oftalmoscopia direta foi associada ao exame de campimetria de estímulos supraliminares do que quando foi associada à tonometria.

Linfoma näo-Hodgkin e retocolite ulcerativa / Non-Hodgkin`s lymphoma and ulcerative colitis - A case report

O objetivo deste trabalho é analisar a rara associaçäo entre duas entidades clínicas: retocolite ulcerativa inespecífica e linfomas. Este estudo é baseado no relato de um caso de um paciente do sexo masculino, com 35 anos de idade, portador de retocolite ulcerativa inespecífica no qual, após quatro meses, foi diagnosticado linfoma näo-Hodgkin tipo Burkitt na faringe. A associaçäo de doenças inflamatórias e linfomas é mais comum com a colite ulcerativa do que com a doença de Crohn; o tipo mais observado é o linfoma näo-Hodgkin, apesar de que o tipo Hodgkin esteja envolvido também. A raridade da associaçäo dificulta conclusöes mais definitivas, porém é bem reconhecida e näo deve ser esquecida por aqueles que acompanham pacientes portadores de doenças inflamatórias intestinais.