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Purpose: To assess the usefulness of a dedicated questionnaire for patients with inflammatory bowel diseases (IBD) treated with biological drugs for the detection of ocular extraintestinal manifestations (EIMs). IBD can cause extraintestinal symptoms including ocular complaints which are frequently ignored and may be associated with significant morbidity, including blindness., Methods: We developed a questionnaire, named Ocular Manifestations in IBD Screening (OMIS) questionnaire, after agreement between gastroenterologists and ophthalmologists. The questionnaire was administered by a non-ophthalmologist physician to 96 IBD patients treated with biological drugs., Results: 35 patients (36.5%) were selected for the ophthalmologic examination on the basis of a positive screening test. Ocular EIMs were detected in 29 of 35 patients (83%)., Conclusion: A specific questionnaire can be useful for non-ophthalmologist physicians in a real world setting in order to select patients to be addressed to an ophthalmological visit, creating an integrated multidisciplinary clinical team, to improve management of IBD in order to prevent disability and guarantee quality of life.

Background: Lacrimal gland (LG) involvement in patients with Graves ophthalmopathy (GO) has been considered as a potential cause of the associated GO symptoms and different studies demonstrated the LG involvement in patients with GO than healthy controls. The aim of this study was to evaluate LG involvement, through measurement of its herniation, using a magnetic resonance imaging (MRI) index, in patients with different GO activities., Methods: Thirty-two consecutive Caucasian patients affected by GO were enrolled and grouped in group A (16 with inactive GO, CAS < 3) and B (16 with active GO, CAS ≥ 3) according to their GO activity. All patients underwent clinical-endocrinological assessment, a complete ocular evaluation, and orbital MRI examination., Results: No difference was found between the hormonal parameters, thyroid ultrasound-derived parameters, and thyroid-stimulating hormone (TSH) receptor (TSH-R) antibodies (TRAb) levels in group B and those in group A. The LG herniation (LGH) measurement evaluated by MRI was significantly higher in group B for both right (10.1 (7.3-17) vs. 7 (0-3.4) mm; p = 0.004) and left (8.5 (6.6-13) vs. 5.8 (0-12) mm; p = 0.026) eye than group A. A positive correlation was found between TRAb and LGH herniation (Rho 0.462, p = 0.009)., Conclusions: Measurement of LGH seems to be a good marker of the disease and GO activity., Key Points: • Lacrimal gland herniation is a simple index related to disease activity • Lacrimal gland herniation is correlated to TRAb levels • Lacrimal gland evaluation could be useful to differentiate active from inactive Graves ophthalmopathy in an early stage of disease.

Purpose: Retinal and choroidal microvascular changes can be related to renal impairment in hypertension and chronic kidney disease (CKD). The study examines the association between retinochoroidal parameters and renal impairment in hypertensive, non-diabetic patients., Methods: This is a cross-sectional study on Caucasian patients with systemic arterial hypertension with different levels of renal function. All subjects were studied by blood chemistry, urine examination, microalbuminuria and blood pressure. Complete eye examination was completed with swept source optical coherence tomography (SS-OCT) and optical coherence tomography angiography (OCTA) scans of macular region. Patients were divided in groups: LowGFR and HighGFR and CKD- and CKD+, according to the value of glomerular filtrate (GFR) and albuminuria. LowGFR and CKD+ groups included patients with clinical kidney impairment., Results: One hundred and twenty eyes of 120 hypertensive patients were evaluated. The mean retinal thickness was thinner in CKD+ versus CKD- group (p < 0.009). LowGFR and CKD+ groups showed thinner choroidal values than HighGFR (p < 0.02) and CKD- (p < 0.001) groups. OCTA showed lower density in LowGFR than in HighGFR group (p < 0.001) and in CKD+ versus CKD- group (p < 0.001). Albuminuria was inversely related to choroidal and retinal thickness measures (p < 0.001) and to the indices of superficial parafoveal (p < 0.05) and foveal (p < 0.05) vascular densities., Conclusions: CKD is associated with retinal thinning, eGFR and decreasing renal function with progressive reduction of choroidal and retinal vascular density. SS-OCT and OCTA documented close association between CKD and reduction of both choroidal thickness and paracentral retinal vascular density in hypertensive patients.

The introduction in the past few years of advanced optical coherence tomography (OCT) techniques has greatly increased our understanding of the choroid, which is the most important vascular layer of the eye. Our study aimed to assess choroidal thickness by using swept-source OCT (SS-OCT) in essential hypertensive patients (EHs) with and without early-stage chronic kidney disease (CKD). We enrolled 100 EHs, of whom 65 were without kidney damage, and 35 had stage 1-3 CKD. In all of the participants, SS-OCT and a routine biochemical workup were performed. Glomerular filtration rate (GFR) was estimated by the CKD Epidemiology Collaboration equation (eGFR). CKD was defined in agreement with the Kidney Disease Outcomes Quality Initiative Kidney Disease: Improving Global Outcomes 2002 guidelines. OCT measurements were performed according to the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol, which divides the macula into nine subfields. The circular grid consists of three concentric rings. EHs with CKD showed thinner choroidal thicknesses than those without it (all p < 0.05), even after adjustment for potential confounding factors. Overall choroidal thickness correlated significantly and directly with eGFR (r = 0.36) and negatively with urinary albumin excretion (r = -0.39). The association of choroidal thickness with CKD was confirmed in multiple logistic regression analyses once the effects of age and other confounding variables were accounted for. The odds ratio of having early-stage CKD associated with a standard deviation increase in overall choroidal thickness was 0.43 (0.24-0.75, 95% confidence interval; p = 0.007). In conclusion, our study confirms the close relationships between changes in ocular microcirculation and renal dysfunction.

Gastritis is an inflammation of the gastric mucosa. In this study, we investigated the efficacy of a medical device, Esoxx®, based on hyaluronic acid and chondroitin sulfate on gastritis-related upper abdominal pain/discomfort and endoscopic features. Fifty patients, affected by gastritis, were randomised to receive the medical device or placebo. The primary endpoint was the medical device efficacy on upper abdominal pain/discomfort associated with gastritis and measured by Visual Analogue Scale (VAS). The secondary endpoints were the efficacy of the medical device on gastritis-related mucosal erosions, blood oozing, and hyperemia (redness)/edema, as assessed by endoscopy, and the patients' rating of their compliance with the treatments. A significant reduction in VAS pain was observed in the treatment group after a 5-week treatment, if compared with placebo (p < 0.001). In summary, administration of a medical device, based on hyaluronic acid and chondroitin sulfate, improves gastritis-related upper abdominal pain/discomfort and decreases mucosal erosions, blood oozing, and hyperemia (redness)/edema at 5-week follow-up in patients affected by gastritis.

Vaccines against human papilloma virus (HPV) have been demonstrated to be very effective to prevent infection-related neoplasms. However, several reports describing heterogeneous post-vaccination phenomena have been published in last few years. The spectrum of these disorders includes both immune-mediated neurological diseases and neuropsychiatric functional disorders. Some researchers speculated about a genetic predisposition, but others hypothesized a role of adjuvants, including some metals and, particularly, aluminum. Here, we tested sixteen young girls developing somatoform and neurocognitive syndromes after the HPV immunization, through MELISA® test, detecting cell-mediated hypersensitivity to several metals. We found no association between these neurocognitive disorders and the results provided by this test; importantly, no patients showed hypersensitivity to aluminum, which is the inorganic adjuvant included in HPV vaccines. Thus, if aluminum played a role in the pathophysiology of musculoskeletal and neurocognitive disturbances occurring in some young girls after HPV immunization, that should recognize other mechanisms than the activation of aluminum-specific lymphocytes., (Copyright © 2017. Published by Elsevier Ltd.)

Prevention of postoperative endophthalmitis (POE) is a goal of every ophthalmic procedure and also in intravitreal therapy (IVT). This comparative retrospective study targets whether systemic and topical preoperative antibiotic prophylaxis (PAP) regimen does prevent POE after IVT in a higher rate compared with topical PAP alone. Out of 6111 IVT performed over a period of 103.5 months, in the study group A patients were treated with systemic and topical PAP (2881 IVT), and in the study group B patients were treated only with topical PAP (3230 IVT). Intravitreal drugs were anti-VEGF, triamcinolone and dexamethasone implants. The incidence of POE in group A (1/2881 or 0.035 % per injection) was not significantly different (P = 0.4) from that in suite B (1/3230 or 0.031 % per injection). Our study states that systemic PAP does not modify the risk of postoperative endophthalmitis in patients treated with IVT.

Autoimmune diseases, including multiple sclerosis and type 1 diabetes mellitus, affect about 5% of the worldwide population. In the last decade, reports have accumulated on various autoimmune disorders, such as idiopathic thrombocytopenia purpura, myopericarditis, primary ovarian failure, and systemic lupus erythematosus (SLE), following vaccination. In this review, we discuss the possible underlying mechanisms of autoimmune reactions following vaccinations and review cases of autoimmune diseases that have been correlated with vaccination. Molecular mimicry and bystander activation are reported as possible mechanisms by which vaccines can cause autoimmune reactions. The individuals who might be susceptible to develop these reactions could be especially not only those with previous post-vaccination phenomena and those with allergies but also in individuals who are prone to develop autoimmune diseases, such as those with a family history of autoimmunity or with known autoantibodies, and the genetic predisposed individuals. Further research is encouraged into the direct associations between vaccines and autoimmune conditions, and the biological mechanisms behind them.

Human papilloma virus (HPV) is recognized as a major cause for cervical cancer among women worldwide. Two HPV vaccines are currently available: Gardasil ® and Cervarix ® . Both vaccines enclose viral antigenic proteins, but differ as to the biological systems of culture and the adjuvant components. Recently, a collection of symptoms, indicating nervous system dysfunction, has been described after HPV vaccination. We retrospectively described a case series including 18 girls (aged 12-24 years) referred to our "Second Opinion Medical Network" for the evaluation of "neuropathy with autonomic dysfunction" after HPV vaccination. All girls complained of long-lasting and invalidating somatoform symptoms (including asthenia, headache, cognitive dysfunctions, myalgia, sinus tachycardia and skin rashes) that have developed 1-5 days (n = 11), 5-15 days (n = 5) and 15-20 days (n = 2) after the vaccination. These cases can be included in the recently described immune dysfunction named autoimmune/inflammatory syndrome induced by adjuvants (ASIA). HPV vaccine, through its adjuvant component, is speculated to induce an abnormal activation of the immune system, involving glia cells in the nervous system too. Further researches should aim at defining the pathological and clinical aspects of these post-vaccination diseases and identifying a genetic background predisposing to these adverse reactions.

Purpose: Heterozygous mutations in the GUCY2D gene, which encodes the membrane-bound retinal guanylyl cyclase-1 protein (RetGC-1), have been shown to cause autosomal dominant inherited cone degeneration and cone-rod degeneration (adCD, adCRD). The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders., Methods: Mutation analysis was performed by direct sequencing as well as PCR and subsequent restriction length polymorphism analysis (PCR/RFLP). Haplotype analysis was performed in selected patients by using microsatellite markers., Results: GUCY2D gene mutations were identified in 11 (40%) of 27 patients, and all mutations clustered to codon 838, including two known and one novel missense mutation: p.R838C, p.R838H, and p.R838G. Haplotype analysis showed that among the studied patients only two of the six analyzed p.R838C mutation carriers shared a common haplotype and that none of the p.R838H mutation carriers did., Conclusions: GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. Haplotype analysis indicates that in most cases these mutations arise independently. Thus, codon 838 is likely to be a mutation hotspot in the GUCY2D gene.

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.