RESUMEN
PURPOSE: Periorbital fat atrophy is a known side effect of topical prostaglandin analogs (PA). This side effect may have implications in the treatment of diseases like thyroid orbitopathy. In this in vivo study we aimed to evaluate the effects of retrobulbar injection of three different PAs on orbital fat. METHODS: Eighteen adult male Wistar-albino rats were divided into three groups of six animals. 0.1 ml of 0.03% bimatoprost, 0.005% latanoprost, or 0.005% travoprost was injected into the right orbits and saline was injected into the left orbits, as controls. Both orbits were exenterated after 3 weeks. Histological cross-sections were analyzed using ImageJ image analysis software. Intraconal adipocyte density was calculated. RESULTS: There was no significant difference in the adipocyte density between the PA injected orbits and the control side in each of the three groups. When calculations from all three groups were analyzed together, again the difference in the adipocyte density between the PA injected orbits and the control side was not significant. CONCLUSION: No significant fat atrophy was noted in this rat model three weeks after retrobulbar injection of PAs. To evaluate retrobulbar injection of PA as a potential therapy for orbital diseases with fat proliferation, in vivo studies in different animal models, higher concentrations of PA, or longer follow-up duration are required.
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Tejido Adiposo , Prostaglandinas F Sintéticas , Masculino , Ratas , Animales , Ratas Wistar , Prostaglandinas Sintéticas/farmacología , Órbita , Bimatoprost , TravoprostRESUMEN
BACKGROUND: Cell culture increases both diagnostic specificity and sensitivity of primary ciliary dyskinesia (PCD) and the most important reason to use cell culture for definitive diagnosis in PCD is to exclude secondary ciliary defects. Here we aimed to evaluate the cilia functions and cilia ultrastructural abnormalities after ciliogenesis of cell culture in patients with definitive diagnosis of PCD. We also aimed to compare high speed videomicroscopy (HSVM) results of patients before and after ciliogenesis and to compare them with electron microscopy, genetic and immunofluorescence results in patients with positive diagnosis of PCD. METHODS: This study was conducted as a cross-sectional study in patients with PCD. HSVM, transmission electron microscopy (TEM) and immunofluorescence staining results of the nasal biopsy samples taken from patients with the definitive diagnosis of PCD were evaluated and HSVM findings before and after cell culture were described. RESULTS: Ciliogenesis and regrowth in the cell culture occurred in the nasal biopsy sample of eight patients with PCD. The mean age of the patients was 15.5±4.2 years (8.5-18 years). Mean beat frequency was found to be 7.54±1.01 hz (6.53-9.45 hz) before cell culture, and 7.36±0.86 hz (6.02-7.99 hz) after cell culture in the nasal biopsy of patients. There was no significant difference in the beat frequency of PCD patients before and after cell culture. Ciliary function analysis showed the similar beating pattern before and after cell culture in patients with PCD. CONCLUSIONS: This study showed us that there was no difference between cilia beat frequency and beat pattern before and after cell culture in patients with definitive diagnosis of PCD and repeated HSVM would be a useful diagnostic approach in patients who have no possibility to reach other diagnostic methods.
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Síndrome de Kartagener , Adolescente , Adulto , Técnicas de Cultivo de Célula , Niño , Cilios/patología , Cilios/fisiología , Cilios/ultraestructura , Estudios Transversales , Humanos , Síndrome de Kartagener/diagnóstico , Microscopía por Video , Adulto JovenRESUMEN
PURPOSE: To evaluate light microscopy and transmission electron microscopy findings of levator muscle/aponeurosis materials and their correlation with clinical findings in isolated congenital myogenic and aponeurotic blepharoptosis. METHODS: Demographic and clinical data were obtained from patients. Qualitative and quantitative evaluations for muscle fiber morphology were performed using light microscopy and transmission electron microscopy on tissue samples which were obtained from the most proximal part of the aponeurosis excised during levator muscle/aponeurosis resection surgery. RESULTS: Seventeen (55%) of the cases were isolated congenital myogenic ptosis, and 14 (45%) were aponeurotic ptosis. Muscle bundle splitting, cytoplasmic loss, and centrally located nuclei were observed in both groups. Muscle tissue covered 25% of the sample in 67% of the cases, 50% in 11%, 75% in 11%, and 100% in 11% in the myogenic group. In the aponeurotic group, muscle tissue covered 25% of the sample in 44.5% of the cases, 50% in 11%, and 100% in 44.5% (χ, p = 0.52). Myofibrillar loss areas accompanied by Z-line disorganization which were occupied by degenerated organelles were present in both groups under transmission electron microscopy, and findings were not significantly different between groups (χ, p > 0.05). Mean mitochondrial diameter was significantly larger in aponeurotic ptosis (Mann-Whitney U, p = 0.047). No correlation was found between functional and microscopic parameters. CONCLUSION: Decreased amount of striated muscle and the presence of fiber damage indicators were observed in both groups. Muscle fiber loss in myogenic ptosis may be a feature of muscle dysgenesis. Ultrastructural damage in aponeurotic ptosis may be explained with increased oxidative stress or long-term contractile stress. Further genetic and immunohistochemical studies will be helpful to further understand the pathogenesis of diseases.
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Blefaroptosis , Aponeurosis , Blefaroptosis/cirugía , Humanos , Microscopía Electrónica de Transmisión , Músculo Esquelético , Músculos OculomotoresRESUMEN
BACKGROUND AND OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients. METHOD: This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole-exome sequencing at our single center from a total of 265 patients with PCD within a 5-year period. RESULTS: Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = 9 individuals, six families), RSPH4A (n = 5 individuals, three families), DNAH11 (n = 4 individuals, four families), HYDIN (n = 5 individuals, five families), CCNO (n = 4 individuals, four families), DNAI1 (n = 2 individuals, one family), ARMC4 (n = 2 individuals, two families), TTC25 (n = 1), DNAH1 (n = 1), and CCDC39 (n = 1) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months-4 years) in patients with CCNO pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI z scores were lower in patients at 18.7 and 16 kg/m2 , and -0.78 and -1.2 with CCDC40 and CCNO pathogenic variants, respectively. The median forced expiratory flow in 1 second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25-75% were 53%, 64%, and 28%, respectively; these parameters were also lower in the CCDC40 group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD. CONCLUSION: In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in CCNO presented earlier, and those with CCDC40 and CCNO had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype-phenotype and clinical relationships will be identified in PCD.