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Introduction: Retinitis pigmentosa (RP), a heterogeneous inherited retinal disorder causing gradual vision loss, affects over 1 million people worldwide. Pathogenic variants in CNGA1 and CNGB1 genes, respectively, accounting for 1% and 4% of cases, impact the cyclic nucleotide-gated channel in rod photoreceptor cells. The aim of this study was to describe and compare genotypic and clinical characteristics of a cohort of patients with CNGA1- or CNGB1-related RP and to explore potential genotype-phenotype correlations., Methods: The following data from patients with CNGA1- or CNGB1-related RP, followed in five Italian inherited retinal degenerations services, were retrospectively collected: genetic variants in CNGA1 and CNGB1, best-corrected visual acuity (BCVA), ellipsoid zone (EZ) width, fundus photographs, and short-wavelength fundus autofluorescence (SW-AF) images. Comparisons and correlation analyses were performed by first dividing the cohort in two groups according to the gene responsible for the disease (CNGA1 and CNGB1 groups). In parallel, the whole cohort of RP patients was divided into two other groups, according to the expected impact of the variants at protein level (low and high group)., Results: In total, 29 patients were recruited, 11 with CNGA1- and 18 with CNGB1-related RP. In both CNGA1 and CNGB1, 5 novel variants in CNGA1 and 5 in CNGB1 were found. BCVA was comparable between CNGA1 and CNGB1 groups, as well as between low and high groups. CNGA1 group had a larger mean EZ width compared to CNGB1 group, albeit not statistically significant, while EZ width did not differ between low and high groups A statistically significant correlation between EZ width and BCVA as well as between EZ width and age were observed in the whole cohort of RP patients. Fundus photographs of all patients in the cohort showed classic RP pattern, and in SW-AF images an hyperautofluorescent ring was observed in 14/21 patients., Conclusion: Rod CNG channel-associated RP was demonstrated to be a slowly progressive disease in both CNGA1- and CNGB1-related forms, making it an ideal candidate for gene augmentation therapies., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Background: Ocular surface frequently affects glaucoma patients. In this paper we aimed at evaluating the impact of glaucoma surgery on the ocular surface of patients who received unilateral trabeculectomy. Methods: 26 consecutive patients successfully treated with trabeculectomy on one eye (Trab Eye) and under control with topical treatments on the fellow eye (Med Eye) were included in this observational study. They received IDEEL and OSDI questionnaires, Tear Film Osmolarity (TFO), grading of conjunctival hyperemia, fluorescein tear break-up time (tBUT), grading of corneal staining and Schirmer test. Results: IDEEL and OSDI scores were 48 ± 38 and 11 ± 12, respectively, with moderate correlation (r = 0.50, p = 0.03). Compared with Med eyes, Trab Eyes had higher tBUT (6.5 ± 3.5 vs. 5.1 ± 2.7 s, p = 0.004), lower conjunctival hyperemia (0.8 ± 0.9 and 1.7 ± 1.1 respectively, p < 0.001) and lower corneal staining (0.3 ± 0.5 and 0.6 ± 0.5, respectively, p = 0.03). Correlation between corneal staining and conjunctival hyperemia was 0.55 in Trab Eyes (p = 0.01) and 0.44 in Med Eyes (p > 0.05). Patients with bilateral corneal staining had had threefold worse questionnaire scores (p < 0.05). The duration of treatment and the daily exposure to preservatives did not directly affect OS parameters in this cohort of patients. Conclusions: Patients receiving successful trabeculectomy showed better OS homeostasis (higher TBUT, lower grading of conjunctival hyperemia and corneal staining) than fellow medically treated eyes. Presence of corneal epithelial damage in both eyes is the factor more consistently affecting questionnaire scores.

Screening programs may be useful to reduce the rate of undetected glaucoma. Compass (CMP, CenterVue, Padova, Italy) Standard Suprathreshold strategy (SST) analyses the visual function at 52 retinal locations. A new Quick Suprathreshold strategy (QST) reduces the number of tested locations to 24. With both tests, the CMP also provides an image of the central retina and a detail of the optic nerve head. The aim of this paper is to measure the performances of SST and QST compared with clinical diagnosis. 63 consecutive healthy subjects and 60 consecutive patients with perimetric defects from glaucoma in both eyes were recruited. They received one test per eye (SST or QST in randomized order); results were classified into normal, suspect and abnormal according to a global index provided in the report and called SupraThreshold Response (STR). Agreement between clinical diagnosis and test output were calculated, and test time was also measured. The agreement with the clinical diagnosis was 95.7% for SST and 95.1% for QST. When two suspect tests were excluded, agreement for QST increased to 96.7%. Test duration was 164 ± 82 s for SST and 71 ± 41 s for QST ( p < 0.0001). Such a difference was similar in both glaucoma patients (respectively 231 ± 65 s vs. 105 ± 33 s, p < 0.0001) and normal subjects (98 ± 17 and 39 ± 9 s, p < 0.0001). In conclusion, SST and QST showed similar, high agreement with clinical judgement. Morphological analysis is potentially helpful in further improving the clinical usefulness of suprathreshold tests. QST is characterized by a strong time saving compared with SST.

The association between autoimmune diseases, mostly rheumatoid arthritis, systemic lupus erythematosus, celiac disease and Sjögren syndrome, and lymphoma, has been widely demonstrated by several epidemiologic studies. By a mechanism which has not yet been entirely elucidated, chronic activation/stimulation of the immune system, along with the administration of specific treatments, may lead to the onset of different types of lymphoma in such patients. Specifically, patients affected by Sjögren syndrome may develop lymphomas many years after the original diagnosis. Several epidemiologic, hematologic, and histological features may anticipate the progression from Sjögren syndrome into lymphoma but, to the best of our knowledge, a definite pathogenetic mechanism for such progression is still missing. In fact, while the association between Sjögren syndrome and non-Hodgkin lymphoma, mostly extranodal marginal zone lymphomas and, less often, diffuse large B-cell, is well established, many other variables, such as time of onset, gender predilection, sites of occurrence, subtype of lymphoma, and predictive factors, still remain unclear. We report on a rare case of primary breast lymphoma occurring three years after the diagnosis of Sjögren syndrome in a 57-year-old patient. The diagnostic work-up, including radiograms, core needle biopsy, and histological examination, is discussed, along with emerging data from the recent literature, thus highlighting the usefulness of breast surveillance in Sjögren syndrome patients.

Background: Our aim was to compare the diagnostic performance of digital breast tomosynthesis (DBT)-galactography with that of full-field digital (FFD)-galactography for detecting intraductal breast lesions using an intra-individual design., Methods: Forty-nine consecutive patients with spontaneous, unilateral, single-pore nipple discharge and inconclusive FFD mammography and ultrasonography underwent galactography with a "COMBO" technique combining FFD- and DBT-galactography acquisitions. Examinations were independently analysed by two breast radiologists with 10-year experience. Sensitivity, specificity, and accuracy for both FFD- and DBT-galactography were calculated having histological examinations of surgical specimens as a reference standard. Data were presented as percentages with their 95% confidence intervals (CI). McNemar test was used. Interobserver agreement was assessed by using Cohen κ test for both techniques., Results: Sensitivity was 41/43 (95%, 95% CI 84.2-99.4) for DBT-galactography and 33/43 (77%, 95% CI 61.4-88.2) for FFD-galactography (p = 0.008), specificity 6/6 (100%, 95% CI 54.1-100.0) for both imaging tools, accuracy 47/49 (96%, 95% CI 86.0-99.5) and 39/49 (80%, 95% CI 65.7-89.8) (p = 0.038), respectively. The inter-observer agreement was 0.86 for DBT-galactography and 0.78 for FFD-galactography. The AGD resulted to 1.94 ± 0.64 for the combined technique., Conclusion: DBT-galactography showed a significantly higher sensitivity and accuracy than FFD-galactography for the identification of the intraductal findings, improving the possibility of a reliable diagnosis in patients with pathologic nipple-discharge.

Recent results within the framework of the collaborative project The Complete Geophysical Survey of the Valley of the Kings (VOK) (Luxor, Egypt) are reported in this article. In October 2018, a team of geomatics and geophysics researchers coordinated by the Polytechnic University of Turin worked side by side in the VOK. Topographic measurements in support of geophysical surveys and the achievement of a very large-scale 3D map of the Eastern VOK were the two main objectives of the geomatics campaign. Innovative 3D metric technologies and methods, based on terrestrial laser scanning (both static and mobile) and close-range photogrammetry were employed by the Geomatics team. The geophysical campaign focused on the acquisition of Electrical Resistivity Tomography (ERT), Ground Penetrating Radar (GPR) and high spatial density Geomagnetic (GM) data. ERT new data around KV62, both inverted in 2D sections and added to the previous ones to perform a new global 3D inversion, confirm the previous results showing both conductive and resistive anomalies that have to be explained. GPR timeslices showed some interesting features in the area in front of the KV2 entrance where GM gradient map also presents localized anomalies. In the area SSW of the KV2 the GM gradient maps evidenced also a large semicircular anomaly which, up to now, has no explanation. The potentialities of using magnetic techniques as a complement to other non-invasive techniques in the search for structures of archeological significance have been explored. The application of modern and innovative methods of 3D metric survey enabled to achieve a complete 3D mapping of what is currently visible in the valley. The integration of 2D/3D mapping data concerning visible elements and hypothetical anomalies, together with the recovering in the same global reference system of underground documentation pertaining to the Theban Mapping Project, prefigure the enhancement of multi-temporal site representation. This strategy enables the fruition development of the already discovered archaeological heritage, using modern criteria of valorization and conservation.

Introduction: Metaplastic carcinoma of the breast includes a heterogeneous group of neoplasms characterized by admixture of adenocarcinoma with area of squamous, chondroid and osseous differentiation. If the tumor shows pure squamous differentiation, it is designated as squamous carcinoma. SCCB accounts for less than 1% of all invasive breast carcinoma. It can present as cystic lesions and simulate a breast abscess., Case Report: A 75-year old woman was visited at our General Surgery Unit for a palpable lump, about 5 cm in size, at the lower inner quadrant of right breast. Mammography revealed 3cm oval opacity with micro calcifications and US appearance as isoechogenic lump with lesion solid-cystic appearance; cytology deposes for cystic inflammatory lesion(C2) to be monitored. A subsequent ultrasound check one year later confirmed an increase of volume, so micro histology sampling was made with suspect malignancy(B4). After biopsy, the patient underwent excision of cyst. Final histological examination showed SCCB with diffuse positivity for Cytokeratin 34beta-E12 and p63; negative reactions to ER and PR; monoclonal antibody Ki67 > 40%; HER2/neu with score 2+ and FISH examination negative. Subsequently, the patient underwent radical Madden mastectomy which confirmed the histological diagnosis and the negativity of the lymph nodes., Discussion: In literature, prognosis and therapy are still discussed; SCCB has shown very little responsiveness to common chemotherapy., Conclusion: A quadrantectomy or a radical mastectomy with lymph node dissection must be considered the best treatment for this rare neoplasia.