Evaluation of the reasons for the microvascular changes in patients with Fabry disease using optic coherence tomography angiography

2020 ◽  
pp. 112067212097428
Author(s):  
Cezmi Dogan ◽  
Busenur Gonen ◽  
Mevlut Tamer Dincer ◽  
Burak Mergen ◽  
Ertugrul Kiykim ◽  
...  

Purpose: To investigate the blood flow changes in the choriocapillaris and the superficial and deep capillary plexus of the retina using optic coherence tomography angiography (OCTA) in patients with Fabry disease (FD) and reveal any possible association of these changes with the systemic findings. Methods: This cross-sectional study included 38 patients with FD and age- and gender-matched 40 healthy controls. OCTA images were obtained from all patients. Superficial (sCVD) and deep capillary vascular density (dCVD) in the foveal, parafoveal, and perifoveal zones and the whole image were recorded for each patient. Flow area in the choriocapillaris and central macular thickness (CMT) were also recorded. Results: Patients with FD showed a lower whole image (54.45 ± 5.99% vs 57.32 ± 6.71%, p = 0.004), foveal (34.94 ± 7.60% vs 39.65 ± 7.03%, p = 0.003), parafoveal (57.41 ± 4.85% vs 59.19 ± 4.67%, p = 0.043), and perifoveal (55.87 ± 6.43% vs 58.87 ± 7.02%, p = 0.003) dCVD compared to the healthy controls without a significant difference in the sCVD and choriocapillaris blood flow ( p > 0.05). A significantly lower whole image and foveal dCVD in the FD patients with renal involvement was observed compared to the healthy controls ( p = 0.027 and p = 0.024, respectively) without any significant difference between the FD patients without renal involvement and healthy controls ( p = 0.17 and p = 0.13, respectively). CMT was significantly higher in FD patients with renal involvement compared to the ones without renal involvement (252.1 ± 18.5 µm vs 235.5 ± 17.6 µm, p = 0.016). Conclusion: Patients with FD showed a lower dCVD without any change in sCVD and choriocapillaris compared to the healthy controls. This decrease was associated mostly with the renal involvement and duration of treatment.

Neurology ◽  
2018 ◽  
Vol 90 (16) ◽  
pp. e1379-e1385 ◽  
Author(s):  
Po Phyu ◽  
Aine Merwick ◽  
Indran Davagnanam ◽  
Fay Bolsover ◽  
Fatima Jichi ◽  
...  

ObjectiveTo assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3.MethodsThis cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI. We measured WMH volume using semiautomated software. We measured CBF in regions of interest in whole-brain, WM, and deep GM, and assessed correlations with WMH volume and plasma lyso-Gb3.ResultsThe mean age (% male) for FD and healthy controls was 42.2 years (44%) and 37.1 years (50%). Mean whole-brain CBF was 27.56 mL/100 mL/min (95% confidence interval [CI] 23.78–31.34) for FD vs 22.39 mL/100 mL/min (95% CI 20.08–24.70) for healthy controls, p = 0.03. In WM, CBF was higher in FD (22.42 mL/100 mL/min [95% CI 17.72–27.12] vs 16.25 mL/100 mL/min [95% CI 14.03–18.48], p = 0.05). In deep GM, CBF was similar between groups (40.41 mL/100 mL/min [95% CI 36.85–43.97] for FD vs 37.46 mL/100 mL/min [95% CI 32.57–42.35], p = 0.38). In patients with FD with WMH (n = 20), whole-brain CBF correlated with WMH volume (r = 0.59, p = 0.006), not with plasma lyso-Gb3.ConclusionIn FD, resting CBF is increased in WM but not deep GM. In FD, CBF correlates with WMH, suggesting that cerebral perfusion changes might contribute to, or result from, WM injury.


2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Pasquale Loiudice ◽  
Marco Pellegrini ◽  
Michele Marinò ◽  
Barbara Mazzi ◽  
Ilaria Ionni ◽  
...  

Abstract Background Hemodynamic changes have been observed in patients with Graves’ disease. The aim of our study was to evaluate choroidal vascular change using the choroidal vascularity index (CVI) in patients with thyroid-associated ophthalmopathy (TAO). Methods In this cross-sectional observational study, 40 patients affected by TAO were recruited. Forty healthy individuals, matched for age and sex, served as controls. Foveal enhanced-depth imaging optical coherence tomography scans were obtained from all participants. Images were binarized using the ImageJ software and luminal area (LA) and total choroidal area (TCA) were measured. CVI was calculated as the proportion of LA to TCA. The relation between CVI or subfoveal choroidal thickness (SFCT) and clinical activity score, exophthalmometric value, diplopia status, gender, and age was evaluated. Results CVI was significantly higher in patients with TAO (P = 0.004). No significant difference was observed in SFCT (P = 0.200) and TCA (P = 0.153) comparing TAO patients and healthy controls. LA was significantly higher in TAO group (P = 0.045). On multiple regression analysis, CVI was associated with TCA (P = 0.043). No association was found between SFCT or CVI and TCA, clinical activity score, exophthalmometric value, Inami value, diplopia status, gender or age (P > 0.05). Conclusions This is the first study that has demonstrated an increase in CVI in eyes with TAO compared with healthy controls and has assessed its association with clinical features.


2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Eman A. Baraka ◽  
Mona G. Balata ◽  
Shereen H. Ahmed ◽  
Afaf F. Khamis ◽  
Enas A. Elattar

Abstract Background This study aimed to measure the serum and synovial interleukin (IL)-37 levels in rheumatoid arthritis (RA) patients compared to patients with primary knee osteoarthritis (PKOA) and healthy controls and to detect its relation to RA disease activity. Results This cross-sectional study included 50 RA patients with a mean age of 40.24 ± 8.62 years, 50 patients with PKOA with a mean age of 56.69 ± 4.21, and 40 healthy controls with a mean age of 41.75 ± 7.38 years. The mean serum IL-37 level in the RA patients (382.6 ± 73.97 pg/ml) was statistically significantly (P < 0.001) the highest among the studied groups; however, it showed a non-significant difference between the PKOA patients (70.38 ± 27.49 pg/ml) and the healthy controls (69.97 ± 25.12 pg/ml) (P > 0.94). Both serum and synovial IL-37 levels were significantly positively correlated with disease activity scores (r = 0.92, P< 0.001 and r = 0.85, P < 0.001), tender joint counts (r = 0.83, P < 0.001 and r = 0.82, P < 0.001 ), swollen joint counts (r = 0.72, P < 0.001 and r = 0.60, P < 0.001), visual analog scale (r = 0.82, P < 0.001 and r = 0.82, P < 0.001), erythrocyte sedimentation rate (r = 0.75, P < 0.001 and r = 0.65, P < 0.001), and C-reactive protein (r = 0.93, P < 0.001 and r = 0.79, P < 0.001), respectively. Conclusion Serum and synovial IL-37 were significantly elevated in the RA patients, and they were closely correlated. Being less invasive, the serum IL-37 could be a marker of disease activity and could reflect the effective disease control by drugs. Having an anti-inflammatory effect could not suggest IL-37 as the key player to control inflammation alone, but its combination with other anti-proinflammatory cytokines could be investigated.


Author(s):  
Xiaolin Ni ◽  
Qi Zhang ◽  
Xiang Li ◽  
Qianqian Pang ◽  
Yiyi Gong ◽  
...  

Abstract Context Sclerostin is an inhibitor of Wnt-β-catenin signaling to regulate bone formation. Circulating sclerostin levels were reported to be elevated in patients with X-linked hypophosphatemia (XLH), and sclerostin antibody (Scl-Ab) has been shown to increase bone mass and normalize circulating phosphate levels in Hyp mice. However, circulating sclerostin level in acquired hypophosphatemic patients with tumor-induced osteomalacia (TIO) remains rare reported. Objectives This study was designed to evaluate serum sclerostin levels in TIO patients comparing them with age-, sex- matched healthy controls and XLH patients, and analyze correlation of circulating sclerostin with BMD and laboratory parameters. Design, Setting and Participants 190 individuals including 83 adult TIO patients, 83 adult healthy controls and 24 adult XLH patients were enrolled in this cross-sectional study. Main outcome measures Serum sclerostin levels were determined in TIO patients, healthy controls and XLH patients. Results TIO patients (43 male and 40 female) aged 44.3 ± 8.7 (mean ± SD) years had lower levels of circulating sclerostin than healthy controls (94.2 ± 45.8 vs 108.4 ± 42.3 pg/mL, p = 0.01) with adjustment for age, gender, BMI and diabetes rate. Sclerostin levels were positively associated with age (r = 0.238, p = 0.030). Male patients had higher sclerostin level than female patients (104.7 ± 47.3 vs 83.0 ± 41.8 pg/mL, p = 0.014) and postmenopausal patients had higher tendency of sclerostin level than premenopausal patients (98.4 ± 48.8 vs 71.6 ± 32.3 ng/ml, p = 0.05). Sclerostin levels were positively associated with BMD of L1-4 (r = 0.255, p = 0.028), femoral neck (r = 0.242, p = 0.039) and serum calcium (r = 0.231, p = 0.043). TIO subgroup patients (n=24, 35.9 ± 7.3 years old) comparing with age-, sex-matched adult XLH patients and healthy controls revealed significant difference of sclerostin levels (XLH, TIO and healthy control were 132.0 ± 68.8, 68.4 ± 31.3 and 98.6 ± 41.1 pg/mL, respectively, p &lt; 0.001). Conclusions Circulating sclerostin levels were decreased in TIO patients but increased in XLH patients, which might be result of histological abnormality and bone mass.


BMUS Bulletin ◽  
1997 ◽  
Vol 5 (2) ◽  
pp. 25-26 ◽  
Author(s):  
Kalpani P Lakhani ◽  
Paul Hardiman

Objective To assess uterine vascular resistance in women with dysfunctional uterine bleeding (DUB) and to compare parameters of blood flow in women with menorrhagia due to uterine fibroids and healthy controls Design Longitudinal, prospective clinical study. Materials and methods Premenopausal women referred to the gynaecology department with a subjective complaint of menorrhagia. The subjects were 24 women with DUB (mean age 38.8 years; normal ultrasound, hysteroscopy and endometrial biopsy), 16 women (mean age 42.8 years) with at least one fibroid greater than 2.0cm on ultrasound examination and 18 healthy controls (mean age 37.3 years; no evidence of menstrual irregularity). None was taking any hormonal contraception or other medication which could influence vascular resistance. Ultrasound examination was performed using an ALOKA SSD 650 with a 5MHz transvaginal probe. Scans were performed on day 4 or 5 of menstrual cycle using pulsed Doppler ultrasound. Uterine vascular resistance was assessed on both sides using pulsatility index (PI) and resistance index (RI). Results No significant difference in the PI or RI values was observed in women with DUB as compared to age matched healthy controls. Both PI and RI were significantly lower in women with menorrhagia associated with fibroids when compared with healthy controls. Conclusions The results of this study demonstrated significant alteration in uterine vascular resistance in women with fibroids compared to women with DUB.


2020 ◽  
pp. 014556132097551
Author(s):  
E. Deniz Gözen ◽  
Chinara Aliyeva ◽  
Fırat Tevetoğlu ◽  
Rıdvan Karaali ◽  
İlker İnanç Balkan ◽  
...  

Objective: Olfactory dysfunction is relatively high in coronavirus disease 2019 (COVID-19) patients. The aim of this study is to investigate the incidence of olfactory disorder objectively in patients with laboratory-confirmed COVID-19 infection. Material and Method: The study included 31 healthy controls and 59 COVID-19 patients who were diagnosed and treated in the COVID departments in a tertiary hospital. The patients with corona virus infection were screened by a questionnaire and were classified into 2 groups as either group 2 (patients without self-reported smell loss) or group 3 (patients with self-reported smell loss). Age and gender matched healthy controls who do not have chronic nasal condition or nasal surgery history comprised the control group (group 1). All of the patients and subjects in the control group were tested by the Sniffin’ Sticks test. All of the answers and scores were recorded, and the comparisons were made. Results: The rate of self-reported smell and taste loss in all COVID-19 patients in this study was 52.5% and 42%, respectively. There was a significant difference in threshold, discrimination, identification, and Threshold, Discrimination, Identification (TDI) scores between groups 1 and 2. When the comparisons between group 1 and 3 were made, again threshold, discrimination, identification, and TDI scores were significantly different. The comparison between groups 2 and 3 demonstrated a significant difference in discrimination, identification, and TDI scores, but threshold score was not different statistically. With questionnaire, the rate of olfactory dysfunction in COVID-19 patients was 52.5%, but with objective test, the rate was calculated as 83%. Conclusion: Olfactory and gustatory dysfunctions are common in COVID-19 patients. According to findings with the objective test method in this study, smell disorder in COVID-19 patients was much higher than those detected by questionnaires.


1998 ◽  
Vol 18 (4) ◽  
pp. 410-414 ◽  
Author(s):  
Nicholas Apostolidis ◽  
Themis Paradellis ◽  
Andreas Karydas ◽  
Andreas Manouras ◽  
Nicholas Katirtzoglou ◽  
...  

Background Strontium is known to affect calcium metabolism both experimentally and in clinical studies on conditions other than end-stage renal failure (ESRF) and continuous ambulatory peritoneal dialysis (CAPD). Objective To investigate Sr metabolism in relation to that of Ca in ESRF patients undergoing CAPD, and the possible influence of the duration of treatment. Design Cross-sectional observational study. Setting University medical center and Institute of Nuclear Physics. Patients Twenty-four patients on CAPD; 14 chronic renal failure (CRF) patients not on dialysis, and 52 healthy controls. Measurements Calcium and Sr content of serum, urine or dialysate effluent, and selected dietary products. Results Calcium and Sr are absorbed by the intestinal tract of healthy subjects with equal efficiency. Serum Ca levels were considerably lower in CRF patients than in healthy subjects and patients on CAPD (p < 0.001). Serum Sr was significantly higher in both CAPD and CRF patients than in healthy controls (p < 0.001). The Sr/Ca ratio in the sera of the healthy subjects was defined by the preferential excretion of Sr over Ca by the kidney. This preferential excretion was lost during renal failure. During treatment there was a tendency for the uptake of both Ca and Sr to increase. Conclusions Strontium is accumulated in the body during renal failure and CAPD cannot restore normal levels. Considering the varying effects of different doses of Sr on bone metabolism experimentally, it would be interesting to determine by further studies the possible significance of the observed Sr accumulation for renal bone disease.


2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Husniah Batool ◽  
Ahmed Nadeem ◽  
Muhammad Kashif ◽  
Faheem Shahzad ◽  
Romeeza Tahir ◽  
...  

Background/Purpose. Chronic periodontitis is an inflammatory disease of gums that causes loss of supporting structures of teeth, that is, gingiva, periodontal ligament, cementum, and alveolar bone. Levels of various cytokines in the serum, gingival tissues, and gingival crevicular fluid in patients with chronic periodontitis have been studied, but limited data are available on the level of cytokines in saliva. Therefore, a study was designed to determine levels of salivary IL-6 and IL-17 in patients with calculus associated chronic periodontitis. Materials and Methods. It was a comparative, cross-sectional study that is comprised of 41 healthy controls and 41 calculus associated chronic periodontitis patients (CP patients). According to the degree of attachment loss, CP patients were subcategorized as mild (CAL 1-2 mm), moderate (CAL 3-4 mm), and severe (CAL > 5 mm) forms of periodontitis. Salivary levels of IL-6 and IL-17 were determined using enzyme-linked immunosorbent assay (ELISA) technique. Data was analyzed using SPSS 20.0. Results. Between healthy controls and CP patients (moderate and severe disease), a statistically significant difference was observed in the concentrations of IL-6 and IL-17. In CP patients, the highest mean ± SD of salivary IL-6 and IL-17 was observed in severe CP, followed by moderate and mild CP. Regarding level of IL-6, a statistically significant difference was observed between mild and severe disease and between moderate and severe subcategories of CP patients. Similarly, statistically significant difference was observed in the level of IL-17 between mild and moderate, mild and severe disease, and moderate and severe disease. Conclusion. The levels of salivary IL-6 and IL-17 were increased significantly in calculus associated CP patients as compared to healthy controls and these levels increased with the progression of CP. Clinical Significance. Salivary levels of IL-6 and IL-17 may help in the subcategorization of CP.


QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
N A A Mahana ◽  
S M Reda ◽  
T B Kamel ◽  
R A Elfeky ◽  
D M Erfan ◽  
...  

Abstract Acute respiratory tract infections are the most common illnesses in childhood. Respiratory defenses against infection involve a diverse and complex system. Toll-like receptors (TLRs) are a type of pattern recognition receptors (PRRs), recognize pathogen-associated molecular patterns (PAMPs), resulting in initiation of innate immune response and promotion of adaptive immunity. TLR single nucleotide polymorphisms (SNPs) impair the ability to respond properly to TLR ligands and increase susceptibility to infectious or inflammatory diseases. The aim of the work: To examine TLR2 Arginine 677Tryptophan (Arg 677Trp) and Arginine753Glutamine (Arg753Gln) gene polymorphisms in patients with recurrent or chronic respiratory tract infections with or without predominantly antibody deficiency (PAD). Subjects and methods: This cross-sectional case-control study included 30 patients with known PAD with/ or without respiratory tract infections, 20 non-PAD patients with recurrent chest infections and 20 age and sex-matched healthy controls. All children included in the study were subjected to full history taking, complete physical examination and laboratory investigations including CBC, serum immunoglobulins levels and genetic analysis of the TLR2 Arg677Trp and Arg753Gln polymorphisms. Computed tomography (CT) scan of the chest with contrast, pulmonary function tests (PFTs) and Bronchoalveolar lavage (BAL) fluid culture and sensitivity were performed to patients with recurrent and/or chronic chest infections. Results: There was a significant difference in the expression of Arg753Gln polymorphism (p 0.04) between PAD patients with and without recurrent chest infections. Patients with mutant or heterozygote state of this polymorphism had a short diagnosis lag (time elapsed between onset of symptoms and date of diagnosis). There was a significant relationship between this polymorphism and the duration of hospital admission (longer hospital stay in patients with mutant allele). A significant difference between non-PAD patients with recurrent chest infections and healthy controls regarding Arg 677 Trp polymorphism (p 0.04) was elicited. Conclusion: Our results suggest that Arg 677 Trp polymorphism could be a risk factor for increased susceptibility to recurrent and /or chronic respiratory tract infections in patients without PAD, while Arg753Gln polymorphism might be an additional risk factor for severe infections in PAD patients.


2019 ◽  
Author(s):  
Atqah AbdulWahab ◽  
Mona Allangawi ◽  
Merlin Thomas ◽  
Ilham Bettahi ◽  
Siveen K. Sivaraman ◽  
...  

Abstract Background: Cystic fibrosis (CF) lung disease is associated with chronic inflammation leading to progress in lung function. Adiponectin is a predominantly anti-inflammatory adipokine that may have a role in CF lung. This study aims to determine total sputum and total plasma adiponectin levels in clinically stable adults CF patients with CFTR I1234V mutation, compared to plasma adiponectin levels in healthy controls and to investigate their correlations with body mass index (BMI) and spirometry in patients with CF. Methods: A cross-sectional study comprises 17 CF patients and 18 healthy controls. Adiponectin levels were measured by magnetic bead-based multiplex assay. Results: The mean age of adult CF patients was 22.9 years± 3.8 (18-30) and 76.5% CF patients had pancreatic sufficiency. The mean BMI in healthy controls was slightly higher than CF patients. The mean sputum adiponectin level was significantly lower than plasma adiponectin levels in CF patients and healthy controls (p<0.001), whereas no significant difference in plasma adiponectin levels between CF patients and healthy controls. The mean sputum adiponectin level was observed to be higher in CF patients with pancreatic insufficiency. Sputum adiponectin level was correlated positively with plasma adiponectin level in CF patients (r= 0.47, p=0.06). Sputum and plasma adiponectin levels in CF patients were correlated negatively with BMI and percentage predicted forced expiratory volume in 1 second (FEV1) and Forced vital capacity (FVC). Conclusions: Sputum adiponectin may provide a minimally invasive tool in the assessment of an inflammatory status in CF patients. Further larger study to address any difference in sputum and plasma adiponectin levels among CF patients with pancreatic sufficiency versus pancreatic insufficiency.


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