scholarly journals Corneal densitometry: a potential indicator for early diagnosis of Fabry disease

Author(s):  
Senmao Li ◽  
Robert Siggel ◽  
Yongwei Guo ◽  
Niklas Loreck ◽  
Alexander C. Rokohl ◽  
...  

Abstract Purpose To assess corneal densitometry in patients with Fabry disease (FD) and to compare corneal densitometry differences in FD patients to different corneal manifestations. Methods Ten participants (20 eyes) with FD and 10 age-matched healthy volunteers (20 eyes) were recruited. All participants were assessed by standardized ophthalmic examinations and the corneal densitometry analysis by Pentacam HR. Densitometry measurements were analyzed in standardized grayscale units. Results Seven patients developed conjunctival vessel tortuosity, cornea verticillata appeared in 6 patients, and two patients had Fabry cataract. Retinal vessel tortuosity occurred in 4 patients, and dilation of retinal vessels appeared in 3 patients, all symptoms occurred in both eyes. The first diagnosis of FD up to examination was 4.7 ± 3.23 years, and first ERT up to examination was 2.6 ± 2.27 years. The initial time to diagnosis was negatively related to the corneal densitometry value of the 0–2-mm (r = − 0.556, p = 0.011) and 2–6-mm (r = − 0.482, p = 0.032) zones in the posterior layer. FD group have significantly higher corneal densitometry in anterior 0–2-mm zone and 2–10-mm zone anterior and posterior layer than the control group (p ≤ 0.035, respectively). When divided into two groups by the existence of cornea verticillata, there was a statistically significant difference in the anterior layer, 6–10-mm zone (p = 0.031); in the central layer, 0–2 mm (p = 0.012), 2–6 mm (p = 0.001), 6–10 mm (p = 0.002), and total (p = 0.002); and in the posterior layer, 6–10 mm (p = 0.004) and total (p = 0.002). Conclusions FD patients show higher corneal densitometry, and corneal densitometry may have potential for early diagnosis and reminding progress of FD.

2020 ◽  
Author(s):  
Hainong Ma ◽  
Xu Song ◽  
Jie Li ◽  
Guofang Zhao

Abstract Background: Intrathoracic esophageal anastomotic leakage (AL) is one of the most fatal complications after esophagectomy. In this study, we tried to place an additional drainage tube in esophagus bed and evaluate its effect in early diagnosis and treatment of AL.Methods: From January 2010 to August 2020, a total of 312 patients, who suffered from esophageal or cardia carcinoma, underwent esophageal resection with intrathoracic esophagogastric anastomosis. Among them, we identified 138 patients with only one pleural drainage tube as “Control Group” and 174 patients with a pleural drainage tube and an additional mediastinal drainage tube (MDT) as “Tube Group”. The incidence of postoperative AL, time to diagnosis, time to recovery, and patient outcome were analyzed.Results: There were no significant differences in the AL rate (P = 0.837) and postoperative pain between two groups. However, in the Tube Group, almost all the patients were definitely diagnosed prior to the appearance of hyperpyrexia, which was regarded as the earliest and most common symptom after AL. Moreover, in the Tube Group, there was significant decrease in the incidence of uncurable fistula, which required re-operation or variable treatments under gastroscopy, when compared to the Control Group (P = 0.032). Finally, patients in the Tube Group were associated with reduced post AL hospital day (P = 0.015) and lower mortality, although there was no significant difference (P = 0.188), than in the Control Group.Conclusions: Placement of a MDT can not prevent the AL, but it is an effective method to diagnose AL earlier and facilitate the fistula healing and patient recovery.


2021 ◽  
Vol 23 (2) ◽  
pp. 213-222
Author(s):  
Hyung Jun Kim ◽  
Ha-Na Song ◽  
Ji-Eun Lee ◽  
Yoon-Chul Kim ◽  
In-Young Baek ◽  
...  

Background and Purpose Previous studies have assessed the relationship between cerebral vessel tortuosity and intracranial aneurysm (IA) based on two-dimensional brain image analysis. We evaluated the relationship between cerebral vessel tortuosity and IA according to the hemodynamic location using three-dimensional (3D) analysis and studied the effect of tortuosity on the recurrence of treated IA.Methods We collected clinical and imaging data from patients with IA and disease-free controls. IAs were categorized into outer curvature and bifurcation types. Computerized analysis of the images provided information on the length of the arterial segment and tortuosity of the cerebral arteries in 3D space.Results Data from 95 patients with IA and 95 controls were analyzed. Regarding parent vessel tortuosity index (TI; <i>P</i><0.01), average TI (<i>P</i><0.01), basilar artery (BA; <i>P</i>=0.02), left posterior cerebral artery (<i>P</i>=0.03), both vertebral arteries (VAs; <i>P</i><0.01), and right internal carotid artery (<i>P</i><0.01), there was a significant difference only in the outer curvature type compared with the control group. The outer curvature type was analyzed, and the occurrence of an IA was associated with increased TI of the parent vessel, average, BA, right middle cerebral artery, and both VAs in the logistic regression analysis. However, in all aneurysm cases, recanalization of the treated aneurysm was inversely associated with increased TI of the parent vessels.Conclusions TIs of intracranial arteries are associated with the occurrence of IA, especially in the outer curvature type. IAs with a high TI in the parent vessel showed good outcomes with endovascular treatment.


2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Xiaoping Dang ◽  
Xiaojian Hu ◽  
Yuancui Meng ◽  
Yan’e Yang ◽  
Lingfang Zheng ◽  
...  

In order to evaluate the early diagnosis value of CysC and the influence of mild hypothermia on the renal damage of asphyxia neonates, the serum cystatin C (CysC) levels of asphyxia neonates and normal neonates were measured by the nanomicrosphere-enhanced immunoturbidimetric method. The treatment was carried out, and the influence of mild hypothermia treatment on the renal damage of asphyxia neonates was analyzed. The results showed that the indicators of the asphyxia group were significantly higher than those of the control group, and the severe asphyxia group was significantly higher than that of the mild asphyxia group, which was statistically significant p < 0.05 ; the heart rate of patients in the mild hypothermia treatment group decreased gradually with the decrease in body temperature. And compared with the control group, there was a significant difference ( p < 0.05 ); after symptomatic treatment, the two groups of ALT, AST, BUN, and SCR were improved to varying degrees, and the difference was statistically significant compared with before treatment ( p < 0.05 ). Studies have shown that serum CysC level can be used as an indicator to detect glomerular filtration function and early asphyxia newborns, and it is sensitive and specific for early diagnosis of kidney damage. At the same time, it can be used to monitor clinical renal function and determine the status of asphyxia newborns.


2019 ◽  
pp. 112067211988698
Author(s):  
Andrea Sodi ◽  
Cristina Nicolosi ◽  
Giulio Vicini ◽  
Chiara Lenzetti ◽  
Gianni Virgili ◽  
...  

Purpose: Fabry disease retinal vascular involvement has been widely reported, with narrowing of the retinal arterioles, dilation and irregularity of the retinal veins, and exaggerated tortuosity of the retinal vessels. We evaluated retinal vessel diameter in Fabry disease, by means of a dedicated software, aiming to provide a quantitative marker of retinal vascular network abnormalities in Fabry disease patients. Material and methods: Observational case-control study evaluating different branches of vessels, peripapillary vessels (group A), temporal vascular arcades (group B), and second-order collaterals of the temporal arcades (group C). We obtained the vessel diameters values from eye fundus digital images of eight Fabry disease patients and eight age-sex matched controls, using a semiautomatic software. Mann–Whitney test was used to compare the Fabry disease group versus the control group. Results: The difference between the average diameters of all the types of vessels considered were significantly smaller in Fabry disease patients compared to healthy controls, resulting in a decrease in size (mm) of 10.9% for group A, 7.8% for group B, and 7.4% for group C. The most evident difference between Fabry disease patients and controls was found in the largest vessels. Conclusion: A computer-assisted analysis of retinal vessel diameter in Fabry disease by means of dedicated software showed narrower retinal arteries in Fabry disease patients than in controls. Our data support the use of semiautomatic assessment of retinal vessel attenuation as an objective and reproducible method to evaluate retinal vascular alterations in Fabry disease, providing a clinical non-invasive tool for early diagnosis and disease monitoring.


Retina ◽  
2017 ◽  
Vol 37 (3) ◽  
pp. 592-603 ◽  
Author(s):  
Irene San Román ◽  
María-Elena Rodríguez ◽  
Orsola Caporossi ◽  
Claudia Zoppetti ◽  
Andrea Sodi ◽  
...  

2018 ◽  
Vol 12 (4) ◽  
pp. 1-4
Author(s):  
Hossein Ayatollahi ◽  
◽  
Ali Asgharzadeh ◽  
Mohammad Rafiee ◽  
Mohammad Reza Keramati ◽  
...  

Background: Sulfur mustard (SM) is a chemical blistering warfare that affects different organs especially hematopoietic system. Prevalence of acute myeloblastic and lymphoblastic leukemia is increased by sulfur mustard exposure. FLT3-ITD mutation can be effective on leukemogenesis. Therefore, the aim of this study was to verify the frequency of FLT3-ITD mutation in the patients who exposed to SM. Methods: This study was implemented on 42 people poisoned by SM during Iraq-Iran war about three decades ago and is now resident in Mashhad, Iran. The control group included 30 healthy males that are relatives of the patients with first-degree. After DNA extraction, PCR was performed for FLT3-ITD analysis. Results: By analysis of PCR products, no FLT3-ITD mutation was detected in the patient or control groups. There was no significant difference in hematological factors between the two groups. Conclusion: Other mechanisms can lead to leukemia in SM exposed persons. Elapsed time after exposure to sulfur mustard can be effective on leukemogenesis, then future more study may be beneficial for early diagnosis of leukemia in SM exposed veterans.


2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Andrea Sodi ◽  
Chiara Lenzetti ◽  
Daniela Bacherini ◽  
Lucia Finocchio ◽  
Tommaso Verdina ◽  
...  

Fabry Disease (FD) is a rare X-linked lysosomal storage disorder characterized by systemic and ocular involvement. It has been described an increasing in retinal and conjunctival vessel tortuosity and this feature represents an important marker for the disease. Currently, there is not an objective method to measure and quantify this parameter. We tested a new semi-automatic software measuring retinal and conjunctival vessel tortuosity from eye fundus and conjunctival digital images in a group of FD patients. We performed an observational case-control study evaluating three mathematical parameters describing tortuosity (sum of angle metric [SOAM], product of angle distance [PAD], triangular index [I2e]) obtained from fundus and conjunctival pictures of 11 FD patients and 11 age and sex-matched controls. Both eyes were considered. Mann–Whitney test was used to compare the FD group versus the control group and, within the FD group, male versus female patients. Linear regression analysis was performed to evaluate the possible association of retinal and conjunctival vessels tortuosity parameters with age and with specific markers of systemic disease’s progression. The tortuosity parameters (SOAM, PAD and I2e) were significantly higher in retinal vessels and in conjunctival nasal vessels in FD patients in comparison with the controls (p=0.003, p=0.002, p=0.001 respectively for retina) (p=0.023, p=0.014, p=0.001 respectively for nasal conjunctiva). No significant association was found between retinal and conjunctival tortuosity parameters and increasing age or systemic involvement markers. Vessel tortuosity represents an important clinical manifestation in FD. A computer-assisted analysis of retinal and conjunctival vasculature demonstrated an increased vessels tortuosity in patients affected by Fabry disease. This non-invasive technique might be useful to help the diagnosis in early stages, to establish disease severity and monitor its progression.


2019 ◽  
Vol 32 (3) ◽  
pp. 233-237 ◽  
Author(s):  
Dan Yao ◽  
Chai Ji ◽  
Weijun Chen ◽  
Mingyan Li ◽  
Zheng-Yan Zhao

Abstract Background The objective of this study was to evaluate the physical growth and development characteristics of children with Williams syndrome (WS) aged 0–24 months, and provide help for early diagnosis of WS. Methods A total of 32 cases of children (17 males and 15 females) aged 0–24 months who were diagnosed with WS were enrolled between 2008 and 2017. These children were divided into four different groups: 1–6 months (six cases), 7–12 months (eight cases), 12–18 months (nine cases) and 19–24 months (nine cases). Meanwhile, a total of 32 healthy children (17 males and 15 females) were enrolled in the study from the Department of Health Care for physical examination in our hospital as the control group and matched with each divided group. Weight and height were measured, and meanwhile birth weight and height were also asked and recorded. Results There was no statistically significant difference in birth height between the two groups (p>0.05), and birth weight and the height and weight of the children with WS in the four groups were significantly lower than those of the children in the normal control (NC) group (p>0.05). When the corresponding age of WS children was compared to the Nine City Growth Curve Standards in China, 97% of cases were lagging behind in physical growth and development. Conclusions WS children often have the features of early slow physical growth, which provides certain help for the early diagnosis of WS. Therefore, for younger children, facial features combined with an accurate and objective physical growth assessment and ultrasonic cardiogram can greatly improve the screening rate.


2021 ◽  
Vol 5 (4) ◽  
pp. 106
Author(s):  
Lissethe Peñate ◽  
Montse Mercade ◽  
María Arregui ◽  
Miguel Roig ◽  
Juan Basilio ◽  
...  

The color stability of interim computer-aided design and computer-assisted manufacturing (CAD/CAM) materials has not been exhaustively investigated. The aim of this study was to compare the translucency (TP) and contrast ratio (CR) of CAD/CAM blocks and conventional interim materials, as well as the effects of varnish application and tooth-brushing on color stability after immersion in different staining solutions. Four hundred and eighty specimens were fabricated with four different interim materials (n = 120) and were divided into three experimental, and one control group (n = 30). The color measurements were taken at the initial time (T0), 24 h (T1), 7 days (T2), and 30 days (T3) after immersion in different solutions. CIEDE2000 (ΔE00) values were analyzed with ANOVA and Fischer’s LSD test with a 95% confidence interval. The relationship between TP and CR was analyzed with a Pearson correlation. All interim materials showed a significant difference (p < 0.05) in color change after 30 days. Results showed that polyethyl methacrylate resins (PEMA) had the highest stability over time. The TP and CR were statistically significant (p < 0.05). It was observed that brushing improved the color stability but the ΔE00 were the highest when the varnish alone or varnish and brushing were used, except in the bis-acryl group, in which varnish and brushing decreased the color stainability.


2017 ◽  
Vol 11 (04) ◽  
pp. 427-431 ◽  
Author(s):  
Mohammad Behnaz ◽  
Kazem Dalaie ◽  
Sepanta Hosseinpour ◽  
Fatemeh Namvar ◽  
Leila Kazemi

ABSTRACT Objective: The aim of this study was to evaluate the effect of agents available in whitening toothpastes (Crest® and Sensodyne®) in vitro on the force decay of elastomeric chains used in orthodontics. Materials and Methods: A total of 300 specimens of elastomeric chains were divided into five groups (n = 60) and were evaluated. These groups included (1) the regular Crest® toothpaste and distilled water solution, (2) whitening Crest® toothpaste and distilled water solution, (3) regular Sensodyne® toothpaste and distilled water solution, (4) whitening Sensodyne® toothpaste and distilled water solution, and (5) distilled water as a control group. The samples' force was measured using Instron at intervals of 0, 1, 7, 14, 21, and 28 days. Data were analyzed by SPSS software. Results: At the initial time point, the difference in the force values of elastomeric chain between any of the groups was not significant (P > 0.05). On the 1st day, there was a significant difference (P < 0.05) between all groups except the groups of whitening Crest®, regular, and whitening Sensodyne® (P > 0.05). On days 7, 14, and 28, the rate of decline for all groups was statistically significant (P < 0.05). Conclusions: According to the results obtained in the present study, it seems that toothpastes without whitening agents have less effect on force decay of elastomeric chain over time.


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