Interleukin-1ß-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population.

Background: Age-related macular degeneration (AMD) is a multifactorial disease and one of the main causes of blindness in people over 50 years old. The etiology and pathophysiology of AMD are not well understood. The aim of this study was to investigate whether the rs1143627 variant allele of IL1B, which encodes Interleukin (IL)-1ß, a key cytokine, mediates immune and inflammatory responses.Methods: A case-control study was conducted with 397 AMD patients and 402 controls in Brazil. IL1B genotyping was carried out with TaqMan® genotyping assay. Differences in IL1B allele frequencies and genotypes were evaluated between patients and controls and between wet and dry subgroups of AMD. Relationships between allele presence/genotype and disease risk are reported as odds ratios (ORs) with 95% confidence intervals (CIs).Results: Genotype proportions for the rs1143627 variant allele of IL1B were similar between AMD patients and controls (p = .21), with 84.38% of AMD patients and 79.60% of the controls carrying the variant allele. We observed a trend toward the variant allele being associated with AMD risk (OR = 1.38, 95% CI 0.95-2.03, p = .08), as well as a trend toward the variant allele being associated with increased risk for wet AMD in particular (OR = 1.23, 95% CI 0.96-1.56, p = .08).Conclusions: The rs1443627 variant was not associated with AMD risk in this Brazilian population sample. Larger studies are warranted to determine whether the trends observed in this study reflect a relationship between this variant and risk of AMD, especially wet AMD.

Evaluation of the frequency of neuroimaging findings in congenital infection by Zika virus and differences between computed tomography and magnetic resonance imaging in the detection of alterations.

INTRODUCTION: Congenital infection by the Zika virus (ZIKV) is responsible for severe abnormalities in the development of the central nervous system. The aim of this study was to evaluate and compare the ability of computed tomography (CT) and magnetic resonance (MR) to detect patterns of involvement of the central nervous system in congenital ZIKV syndrome. METHODS: We retrospectively analyzed CT and MR images from 34 patients with congenital ZIKV syndrome and evaluated the differences between the two methods in detecting alterations. RESULTS: The predominant radiographic finding was a simplified gyral pattern, present in 97% of cases. The second most common finding was the presence of calcifications (94.1%), followed by ventriculomegaly (85.3%), dysgenesis of the corpus callosum (85.3%), craniofacial disproportion and redundant scalp (79.4%), complete opercular opening (79.4%), occipital prominence (44.1%), cerebellar hypoplasia (14.7%), and pontine hypoplasia (11.8%). The gyral pattern was extensively simplified in most cases, and calcifications were located predominantly at the cortical-subcortical junction. CT was able to better identify calcifications (94.1% × 88.2%), while MRI presented better spatial resolution for the characterization of gyral pattern (97% × 94.1%) and corpus callosum dysgenesis (85.3% × 79.4%). CONCLUSIONS: Although congenital ZIKV syndrome does not present pathognomonic neuroimaging findings, some aspects, such as calcifications at the cortical-subcortical junction, especially when associated with compatible clinical and laboratory findings, are suggestive of intrauterine ZIKV infection.

Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases.

Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.

Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases / Alterações oftalmológicas na cutis marmorata telangiectásica congênita: uma série de casos

ABSTRACT Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.

RESUMO A Cutis marmorata telangiectasica congênita é uma desordem vascular cutânea rara que pode estar associada a diferentes manifestações sistêmicas, como assimetria corporal, alterações cutâneas, oftalmológicas, vasculares e neurológicas. Descrevemos alterações oftalmológicas encontradas em três pacientes com cutis marmorata telangiectasia congênita, destacando as raras manifestações retinianas.

Evaluation of the frequency of neuroimaging findings in congenital infection by Zika virus and differences between computed tomography and magnetic resonance imaging in the detection of alterations

Abstract INTRODUCTION: Congenital infection by the Zika virus (ZIKV) is responsible for severe abnormalities in the development of the central nervous system. The aim of this study was to evaluate and compare the ability of computed tomography (CT) and magnetic resonance (MR) to detect patterns of involvement of the central nervous system in congenital ZIKV syndrome. METHODS: We retrospectively analyzed CT and MR images from 34 patients with congenital ZIKV syndrome and evaluated the differences between the two methods in detecting alterations. RESULTS: The predominant radiographic finding was a simplified gyral pattern, present in 97% of cases. The second most common finding was the presence of calcifications (94.1%), followed by ventriculomegaly (85.3%), dysgenesis of the corpus callosum (85.3%), craniofacial disproportion and redundant scalp (79.4%), complete opercular opening (79.4%), occipital prominence (44.1%), cerebellar hypoplasia (14.7%), and pontine hypoplasia (11.8%). The gyral pattern was extensively simplified in most cases, and calcifications were located predominantly at the cortical-subcortical junction. CT was able to better identify calcifications (94.1% × 88.2%), while MRI presented better spatial resolution for the characterization of gyral pattern (97% × 94.1%) and corpus callosum dysgenesis (85.3% × 79.4%). CONCLUSIONS: Although congenital ZIKV syndrome does not present pathognomonic neuroimaging findings, some aspects, such as calcifications at the cortical-subcortical junction, especially when associated with compatible clinical and laboratory findings, are suggestive of intrauterine ZIKV infection.

Preoperative computed tomography evaluation of the paranasal sinuses: what should the physician know? - pictorial essay.

The introduction of functional endoscopic sinus surgery in the 1980s brought about a drastic change in the treatment of patients with rhinosinusitis, improving quality of life through the removal of pathological processes or anatomical variations that obstruct the drainage pathways of the paranasal sinuses. However, despite the routine use of computed tomography in the anatomical evaluation of the paranasal sinuses, most radiological reports still do not provide sufficient information to guide the surgical planning. The objective of this pictorial essay was to demonstrate, through computed tomography, the main anatomical variations of the paranasal sinuses, the recognition of which is fundamental for preoperative planning, in order to avoid treatment failure and iatrogenic complications.

A introdução da cirurgia endoscópica sinusal funcional na década de 80 proporcionou uma mudança drástica no tratamento de pacientes com rinossinusite, melhorando a qualidade de vida mediante a retirada de processos patológicos ou variações anatômicas que provocam obstrução nas vias de drenagem dos seios paranasais. Porém, apesar do uso rotineiro da tomografia computadorizada na avaliação anatômica dos seios paranasais, a maioria dos laudos radiológicos ainda carece de informações que orientem o planejamento cirúrgico. O objetivo deste ensaio iconográfico é demonstrar, por meio de tomografia computadorizada, as principais variações anatômicas dos seios paranasais, cujo reconhecimento é fundamental para o planejamento pré-operatório, a fim de evitar falhas terapêuticas e iatrogenias.

Preoperative computed tomography evaluation of the paranasal sinuses: what should the physician know? - pictorial essay / Avaliação pré-operatória das cavidades paranasais por tomografia computadorizada: o que o médico deve saber? - ensaio iconográfico

Abstract The introduction of functional endoscopic sinus surgery in the 1980s brought about a drastic change in the treatment of patients with rhinosinusitis, improving quality of life through the removal of pathological processes or anatomical variations that obstruct the drainage pathways of the paranasal sinuses. However, despite the routine use of computed tomography in the anatomical evaluation of the paranasal sinuses, most radiological reports still do not provide sufficient information to guide the surgical planning. The objective of this pictorial essay was to demonstrate, through computed tomography, the main anatomical variations of the paranasal sinuses, the recognition of which is fundamental for preoperative planning, in order to avoid treatment failure and iatrogenic complications.

Resumo A introdução da cirurgia endoscópica sinusal funcional na década de 80 proporcionou uma mudança drástica no tratamento de pacientes com rinossinusite, melhorando a qualidade de vida mediante a retirada de processos patológicos ou variações anatômicas que provocam obstrução nas vias de drenagem dos seios paranasais. Porém, apesar do uso rotineiro da tomografia computadorizada na avaliação anatômica dos seios paranasais, a maioria dos laudos radiológicos ainda carece de informações que orientem o planejamento cirúrgico. O objetivo deste ensaio iconográfico é demonstrar, por meio de tomografia computadorizada, as principais variações anatômicas dos seios paranasais, cujo reconhecimento é fundamental para o planejamento pré-operatório, a fim de evitar falhas terapêuticas e iatrogenias.

Hearing disorders - findings on computed tomography and magnetic resonance imaging: pictorial essay.

Hearing disorders are usually unilateral and are more common in women. They can be congenital or acquired, and hearing loss is categorized as sensorineural, conductive, or mixed. The onset of hearing loss can be progressive or sudden, and it is a common reason for seeking medical attention. In this context, computed tomography and magnetic resonance imaging have assumed critical roles in the search for an etiological diagnosis and in guiding the therapeutic approach. In this pictorial essay, we illustrate the common causes of hearing loss, discussing the possible differential diagnoses and highlighting the most relevant imaging findings.

Distúrbios da audição são comumente unilaterais e mais comuns em mulheres, podendo ser de origem congênita ou adquirida, consequentes a distúrbios neurossensoriais, condutivos ou mistos, com evolução progressiva ou súbita, sendo uma motivação frequente de idas ao consultório médico. Dentro desse contexto, a tomografia computadorizada e a ressonância magnética assumiram fundamental importância na busca da definição etiológica e para guiar a conduta terapêutica. Neste ensaio iconográfico ilustraremos causas frequentes de déficit auditivo, demonstrando possíveis diagnósticos diferenciais e ressaltando os aspectos de imagem mais relevantes.