Fahr syndrome : an important piece of a puzzle in the differential diagnosis of many diseases

Fahr syndrome is a rare neurodegenerative disorder characterized by symmetrical, bilateral calcifications in the basal ganglia, nucleus gyrus and cerebral cortex. The continuous advancement as well as widespread use of brain imaging have contributed to the increasing detection rates of such changes. Nevertheless, their etiology is understood only partially and the methods of causative treatment are limited. Due to various symptoms, Fahr syndrome may resemble diseases from the field of neurology, psychiatry, cardiology and even urology. This article provides an up-to-date review of the literature concerning Fahr syndrome in terms of clinical practice

Retinal vessel diameters and reactivity in diabetes mellitus and/or cardiovascular disease

Background: Retinal vessel calibre and vascular dilation/constriction in response to flicker light provocation may provide a measure distinguishing patients suffering from diabetes mellitus and/or cardiovascular disease. Methods: One hundred and sixteen age and sex matched patients with diabetes mellitus (DM), cardiovascular disease (CVD) and both DM and CVD (DM+CVD) underwent systemic and intraocular pressure measurements. Retinal vessel calibres were assessed using a validated computer-based program to compute central retinal artery and vein equivalents (CRVE) from monochromatic retinal images. Vessel dilation and constriction responses to flicker light provocation were assessed by continuous retinal vessel diameter recordings. Plasma endothelial markers von Willebrand factor (vWf) and soluble E selectin (sEsel) were measured by ELISA. Results: Retinal vessel calibres were comparable across groups but CRVE correlated significantly with disease duration in DM patients (r=0.57, p<0.001). Patients suffering DM only exhibited reduced arterial vasomotion at rest and reduced arterial constriction following flicker light induced vessel dilation compared to patients with CVD and those suffering both CVD+DM (p=0.030). Patients suffering from CVD+DM exhibited significant differences between each flicker cycle in regards to arterial maximum constriction (p=0.006) and time needed to reach arterial maximum dilation (p=0.004), whereas the other two groups did not show such inconsistencies between individual flicker cycles. vWf was raised in CVD+DM compared to the other two groups (p≤0.02), whilst sEsel was raised in CVD+DM compared to DM alone (p=0.044). Conclusions: Dynamic retinal vascular calibres as obtained by continuous diameter measurements using flicker light provocation can reveal subtle differences between groups suffering from CVD with and without DM. This difference in reaction pattern and lack of arterial constriction in DM may provide a suitable marker to monitor progression

The association between retinal vascular geometry changes and diabetic retinopathy and their role in prediction of progression: an exploratory study

Background: The study describes the relationship of retinal vascular geometry (RVG) to severity of diabetic retinopathy (DR), and its predictive role for subsequent development of proliferative diabetic retinopathy (PDR). Methods. The research project comprises of two stages. Firstly, a comparative study of diabetic patients with different grades of DR. (No DR: Minimal non-proliferative DR: Severe non-proliferative DR: PDR) (10:10: 12: 19). Analysed RVG features including vascular widths and branching angles were compared between patient cohorts. A preliminary statistical model for determination of the retinopathy grade of patients, using these features, is presented. Secondly, in a longitudinal predictive study, RVG features were analysed for diabetic patients with progressive DR over 7 years. RVG at baseline was examined to determine risk for subsequent PDR development. Results: In the comparative study, increased DR severity was associated with gradual vascular dilatation (p = 0.000), and widening of the bifurcating angle (p = 0.000) with increase in smaller-child-vessel branching angle (p = 0.027). Type 2 diabetes and increased diabetes duration were associated with increased vascular width (p = <0.05 In the predictive study, at baseline, reduced small-child vascular width (OR = 0.73 (95 CI 0.58-0.92)), was predictive of future progression to PDR. Conclusions: The study findings suggest that RVG alterations can act as novel markers indicative of progression of DR severity and establishment of PDR. RVG may also have a potential predictive role in determining the risk of future retinopathy progression. © 2014 Habib et al.; licensee BioMed Central Ltd

The relationship of systemic markers of renal function and vascular function with retinal blood vessel responses

Purpose: To test the hypothesis of a significant relationship between systemic markers of renal and vascular function (processes linked to cardiovascular disease and its development) and retinal microvascular function in diabetes and/or cardiovascular disease.Methods: Ocular microcirculatory function was measured in 116 patients with diabetes and/or cardiovascular disease using static and continuous retinal vessel responses to three cycles of flickering light. Endothelial function was evaluated by von Willebrand factor (vWf), endothelial microparticles and soluble E selectin, renal function by serum creatinine, creatinine clearance and estimated glomerular filtration rate (eGFR). HbA1c was used as a control index.Results: Central retinal vein equivalence and venous maximum dilation to flicker were linked to HbA1c (both p<0.05). Arterial reaction time was linked to serum creatinine (p=0.036) and eGFR (p=0.039), venous reaction time was linked to creatinine clearance (p=0.018). Creatinine clearance and eGFR were linked to arterial maximum dilatation (p<0.001 and p=0.003 respectively) and the dilatation amplitude (p=0.038 and p=0.048 respectively) responses in the third flicker cycle. Of venous responses to the first flicker cycle, HbA1c was linked to the maximum dilation response (p=0.004) and dilatation amplitude (p=0.017), vWf was linked to the maximum constriction response (p=0.016), and creatinine clearance to the baseline diameter fluctuation (p=0.029). In the second flicker cycle, dilatation amplitude was linked to serum creatinine (p=0.022). Conclusions: Several retinal blood vessel responses to flickering light are linked to glycaemia and renal function, but only one index is linked to endothelial function. Renal function must be considered when interpreting retinal vessel responses

Hyperglycemia and Diabetes Downregulate the Functional Expression of TRPV4 Channels in Retinal Microvascular Endothelium

Retinal endothelial cell dysfunction is believed to play a key role in the etiology and pathogenesis of diabetic retinopathy. Numerous studies have shown that TRPV4 channels are critically involved in maintaining normal endothelial cell function. In the current paper, we demonstrate that TRPV4 is functionally expressed in the endothelium of the retinal microcirculation and that both channel expression and activity is downregulated by hyperglycaemia. Quantitative PCR and immunostaining demonstrated molecular expression of TRPV4 in cultured bovine retinal microvascular endothelial cells (RMECs). Functional TRPV4 activity was assessed in cultured RMECs from endothelial Ca2+-responses recorded using fura-2 microfluorimetry and electrophysiological recordings of membrane currents. The TRPV4 agonist 4α-phorbol 12,13-didecanoate (4-αPDD) increased [Ca2+]i in RMECs and this response was largely abolished using siRNA targeted against TRPV4. These Ca2+-signals were completely inhibited by removal of extracellular Ca2+, confirming their dependence on influx of extracellular Ca2+. The 4-αPDD Ca2+-response recorded in the presence of cyclopiazonic acid (CPA), which depletes the intracellular stores preventing any signal amplification through store release, was used as a measure of Ca2+-influx across the cell membrane. This response was blocked by HC067047, a TRPV4 antagonist. Under voltage clamp conditions, the TRPV4 agonist GSK1016790A stimulated a membrane current, which was again inhibited by HC067047. Following incubation with 25 mM D-glucose TRPV4 expression was reduced in comparison with RMECs cultured under control conditions, as were 4αPDD-induced Ca2+-responses in the presence of CPA and ion currents evoked by GSK1016790A. Molecular expression of TRPV4 in the retinal vascular endothelium of 3 months' streptozotocin-induced diabetic rats was also reduced in comparison with that in age-matched controls. We conclude that hyperglycaemia and diabetes reduce the molecular and functional expression of TRPV4 channels in retinal microvascular endothelial cells. These changes may contribute to diabetes induced endothelial dysfunction and retinopathy

Diabetic retinopathy: current and future methods for early screening from a retinal hemodynamic and geometric approach

Diabetic retinopathy (DR) is a major disease and is the number one cause of blindness in the UK. In England alone, 4200 new cases appear every year and 1280 lead to blindness. DR is a result of diabetes mellitus, which affects the retina of the eye and specifically the vessel structure. Elevated levels of glucose cause a malfunction in the cell structure, which affects the vessel wall and, in severe conditions, leads to their breakage. Much research has been carried out on detecting the different stages of DR but not enough versatile research has been carried out on the detection of early DR before the appearance of any lesions. In this review, the authors approach the topic from the functional side of the human eye and how hemodynamic factors that are impaired by diabetes affect the vascular structur

The importance of nutritional management and education in the treatment of autism

Autism spectrum disorders (ASDs) are an early-onset neurodevelopmental disorders. The key symptoms of ASD include social deficits, verbal and non-verbal communication deficits, and restricted, repetitive patterns of behaviour, interests, or activities. Dietary patterns have been evidenced to be related to maternal nutritional status that might lead to different metabolic conditions, and maternal metabolic dysfunction has been observed to be associated with ASD. Furthermore growing evidence suggests that the gut microbiota has a role in the pathophysiology of ASD. Differences in composition of the gastrointestinal (GI) microbiota in children with ASD compared to unaffected siblings and/or healthy unrelated controls have been reported in various studies. The above-mentioned ASD factors and symptoms can be regulated by proper nutrition. The importance of nutrition and its possible impact on ASD patients is key to integral therapy. According to numerous research studies, various nutritional approaches succeeded in reducing the severity of patients' core ASD symptoms. The numerous options for diet that is used in the ASD therapy, as described in the scientific literature, are related to the problem of choosing an appropriate nutritional treatment. Each nutrition programme needs to be personalised and tailored to an individual patient. The aim of the paper is to review the available literature on dietary interventions in children with ASD and provide up-to-date evidence.Zaburzenia ze spektrum autyzmu (ASD) są zaburzeniami neurorozwojowymi o wczesnym początku. Kluczowe objawy ASD obejmują deficyty społeczne, deficyty komunikacji werbalnej i niewerbalnej oraz ograniczone, powtarzalne wzorce zachowań, zainteresowań lub czynności. Udowodniono, że wzorce żywieniowe są powiązane ze stanem odżywienia matki, co może prowadzić do różnych stanów metabolicznych, a zaburzenia metaboliczne u matki są powiązane z ASD. Coraz więcej dowodów sugeruje, że mikroflora jelitowa odgrywa rolę w patofizjologii ASD. W różnych badaniach donoszono o różnicach w składzie mikroflory przewodu pokarmowego (GI) u dzieci z ASD w porównaniu ze zdrowym rodzeństwem i/lub zdrowymi, niespokrewnionymi grupami kontrolnymi. Czynniki i objawy ASD można regulować poprzez odpowiednie odżywianie. Znaczenie żywienia i jego możliwy wpływ na pacjentów z ASD jest kluczem do integralnej terapii. Zgodnie z licznymi badaniami naukowymi, różne podejścia żywieniowe odniosły sukces w zmniejszaniu nasilenia podstawowych objawów ASD u pacjentów. Strategie postępowania dietetycznego stosowane w terapii ASD, opisane w literaturze naukowej, wiążą się z problemem wyboru odpowiedniego leczenia żywieniowego. Każdy program żywieniowy musi być spersonalizowany i dostosowany do indywidualnego pacjenta. Celem pracy jest przegląd dostępnej literatury na temat interwencji dietetycznych u dzieci z ASD i dostarczenie aktualnych danych naukowych

Comparison of nutritional value of "fruit and vegetables" and "western" dietary patterns identified in a group of cancer patients

Background. Dietary patterns (DPs) are defined as the amounts, types and combinations of various food products in habitual diets and the frequency of their consumption. Dietary pattern analysis is usually performed in order to assess the combined effect of consumed food products on health. Objective. The aim of the study was to assess and compare the nutritional value of dietary patterns identified in a group of patients staying on the oncological ward. Material and methods. The study group consisted of 100 patients (51 women and 49 men) aged 19-83 years. Dietary intake was assessed using a food frequency questionnaire (FFQ) validated for the population of Lower Silesian Voivodeship. Results. Factor analysis identified two main dietary patterns explaining 25.6% of variance. The “fruit and vegetables” DP consisted of vegetables, fruits, juices, unrefined grains and nuts, seeds and raisins. Instead, the “Western” DP was characterized by the consumption of high-fat and processed meat and poultry, fried fish, refined grains, honey and sugar, fats, sweets, beverages and chips. While higher scores for “fruit and vegetables” pattern were associated with increased intake of dietary fiber, antioxidant vitamins, folic acid and decreased glycemic load per 1000 kcal and sodium intake, for “Western” pattern observed relationships were opposite. Women were more likely to have higher factor scores for “fruit and vegetables” DP and lower factor scores for “Western” DP than men. Conclusions. Dietary patterns identified in the study group differed in terms of nutritional value, in spite of similar macronutrient content in the diet. “Western” DP was characterized by lower nutritional value than “fruit and vegetables” dietary pattern.Wprowadzenie. Wzory żywienia (ang. dietary patterns) definiowane są jako ilości, rodzaje i kombinacje produktów spożywczych i napojów zawartych w całodziennej diecie oraz częstotliwość, z jaką są one zwyczajowo spożywane. Analiza wzorów żywienia jest stosowana w celu określenia synergistycznego efektu oddziaływania różnorodnych składowych diety na zdrowie. Cel. Celem pracy było porównanie wzorów żywienia wyodrębnionych w grupie pacjentów przebywających na oddziale onkologicznym. Materiał i metody. Grupa badana liczyła 100 pacjentów (51 kobiet i 49 mężczyzn) w wieku 19-83 lata. Sposób żywienia oceniono na podstawie kwestionariusza częstotliwości spożycia żywności (FFQ) walidowanego dla populacji dolnośląskiej. Wyniki: Za pomocą analizy czynnikowej wyodrębniono dwa główne wzory żywienia wyjaśniające łącznie 25,6% wariancji. Wzór „owocowo-warzywny” charakteryzował się wysokim spożyciem warzyw, owoców, soków, nierafinowanych produktów zbożowych, orzechów i nasion, a wzór „zachodni” - tłustego i przetworzonego mięsa i drobiu, smażonych ryb, rafinowanych produktów zbożowych, miodu i cukru, tłuszczów, słodyczy, słodzonych napojów i frytek. Wysokie wartości czynnikowe wzoru „owocowo-warzywnego” były związane ze zwiększoną zawartością w diecie błonnika pokarmowego, witamin antyoksydacyjnych i kwasu foliowego, niższą zawartością sodu oraz niższym ładunkiem glikemicznym w przeliczeniu na 1000 kcal diety. Dla wzoru „zachodniego” zaobserwowane zależności były odwrotne. W grupie kobiet uczestniczących w badaniu wykazano wyższe wartości czynnikowe wzoru „owocowo-warzywnego” i niższe wartości czynnikowe wzoru „zachodniego” niż w grupie mężczyzn. Wnioski. Wzory żywienia wyodrębnione w badanej grupie chorych znacznie różniły się od siebie wartością odżywczą pomimo podobnej zawartości makroskładników diety. Wzór „zachodni” charakteryzował się niższą wartością odżywczą diety, niż wzór „owocowo-warzywny”

Influence of the Organophilisation Process on Properties of the Bentonite Filler and Mechanical Properties of the Clay/Epoxy Nanocomposites

In this comparative study, the influence of the organophilisation process on the properties of resulting organobentonite fillers and their capability to improve the mechanical properties of clay/polymer nanocomposites were investigated. The organobentonites were obtained by activation with the use of two organic quaternary ammonium salts (QAS) with alkyl chains of significantly different lengths. The organophilisation resulted in an increase in the interlayer space of clays, which was confirmed by XRD analysis. The obtained organofillers were used to produce nanoclay/epoxy resin composites and the effects of alkyl chain length on the resulting properties of composites were compared based on the examination of mechanical behaviour and morphology, and a composite filled with the non organophilised bentonite was used as a reference material. It was demonstrated that the organophilisation process using distearyldimethyl ammonium chloride salt with a longer alkyl chain (C18-C20) created a more superior conditions for the compatibility of nanofiller with a polymer matrix, resulting in a 25 % increase in the bending strength of the epoxy composite material filled with 3 %wt of the organophilised bentonite, comparing to neat epoxy

Influence of the Organophilisation Process on Properties of the Bentonite Filler and Mechanical Properties of the Clay/Epoxy Nanocomposites

In this comparative study, the influence of the organophilisation process on the properties of resulting organobentonite fillers and their capability to improve the mechanical properties of clay/polymer nanocomposites were investigated. The organobentonites were obtained by activation with the use of two organic quaternary ammonium salts (QAS) with alkyl chains of significantly different lengths. The organophilisation resulted in an increase in the interlayer space of clays, which was confirmed by XRD analysis. The obtained organofillers were used to produce nanoclay/epoxy resin composites and the effects of alkyl chain length on the resulting properties of composites were compared based on the examination of mechanical behaviour and morphology, and a composite filled with the non organophilised bentonite was used as a reference material. It was demonstrated that the organophilisation process using distearyldimethyl ammonium chloride salt with a longer alkyl chain (C18-C20) created a more superior conditions for the compatibility of nanofiller with a polymer matrix, resulting in a 25 % increase in the bending strength of the epoxy composite material filled with 3 %wt of the organophilised bentonite, comparing to neat epoxy