Publications by authors named "Piscopo R"
Article Synopsis
- The cohesin complex gene is linked to critical functions like chromosome segregation and DNA repair, and variants can cause disorders with distinct physical and neurological symptoms.
- Two twins with a novel de novo variant in this gene exhibited differing severity of neurodevelopmental delays, with one twin significantly more affected by behavioral and speech difficulties.
- The study suggests variability in clinical presentations related to the gene, possibly influenced by other genetic factors, such as a discovered microduplication on chromosome 15.
Background: This study evaluates the therapeutic efficacy of HAr® (a novel ophthalmic solution containing modified hyaluronic acid covalently linked to riboflavin) compared to hyaluronic acid eye drops in patients with dry eye disease (DED).
Methods: Sixteen consecutive patients with bilateral medium to severe DED were divided into two groups. Group 1 received HAr® 0.
Ocular surface staining for assessing corneal and conjunctival epithelium integrity is typically conducted using fluorescein, lissamine green, or rose Bengal dyes. Recently, a novel vital dye, REmark, based on riboflavin, has been proposed for ocular surface examination. In the management of corneal and ocular surface diseases (OSD), the use of contact lenses is integral to therapeutic strategies.
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- The CACNA1C gene is crucial for forming a component of the L-type calcium channel, and mutations in this gene are linked to several heart rhythm disorders, but recent studies also hint at neurological issues in children without heart problems.
- A detailed review investigated neurological presentations associated with CACNA1C mutations, revealing a new pathogenic variant in a child who displayed a range of neurological and physical symptoms, but no cardiac issues.
- The study underscores the need to assess the CACNA1C gene in cases of isolated neurological syndromes in children, emphasizing that the absence of heart symptoms doesn't rule out related disorders and may reveal diverse clinical manifestations.
Keratoconus is an ectatic condition characterized by gradual corneal thinning, corneal protrusion, progressive irregular astigmatism, corneal fibrosis, and visual impairment. The therapeutic options regarding improvement of visual function include glasses or soft contact lenses correction for initial stages, gas-permeable rigid contact lenses, scleral lenses, implantation of intrastromal corneal ring or corneal transplants for most advanced stages. In keratoconus cases showing disease progression corneal collagen crosslinking (CXL) has been proven to be an effective, minimally invasive and safe procedure.
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- Fertility treatments using assisted reproductive technology (ART) during the COVID-19 pandemic carry an elevated risk of pregnancy complications, necessitating a review of the associated dangers against a backdrop of a global health crisis.
- A comprehensive literature search from January 2020 to July 2022 examined the interactions between COVID-19 and fertility management, highlighting the immune responses and clotting issues that could intensify risks during controlled ovarian stimulation (COS) and ART surgeries.
- The review emphasizes the need for strategies to mitigate these risks, focusing on safe ART practices and recommendations to protect pre-symptomatic infertile patients during the pandemic period.
Background: Endometrial scratching (ES) or injury is intentional damage to the endometrium performed to improve reproductive outcomes for infertile women desiring pregnancy. Moreover, recent systematic reviews with meta-analyses and randomized controlled trials demonstrated that ES is not effective, data on the safety are limited, and it should not be recommended in clinical practice. The aim of the current study was to assess the view and behavior towards ES among fertility specialists throughout infertility centers in Italy, and the relationship between these views and the attitudes towards the use of ES as an add-on in their commercial setting.
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- The study evaluates the long-term safety and effectiveness of epithelium-off corneal cross-linking (S-CXL) in patients over 40 with progressive keratoconus, involving 76 eyes from 64 participants.
- Results show that S-CXL successfully halted disease progression in all patients and resulted in significant improvements in corneal shape and less visual distortion, with no need for repeat treatments.
- Although distance-corrected visual acuity remained stable over time, factors like atopy negatively impacted visual outcomes, indicating that while the procedure is generally effective, patient-specific conditions may affect results.
Article Synopsis
- Organisms in marine environments face various contaminants that can interact and influence each other's effects, with temperature also playing a crucial role in their toxicity.
- The study evaluated the impact of caffeine and functionalized multi-walled carbon nanotubes on clams (Ruditapes philippinarum), focusing on their effects alone and in combination at two different temperatures (18°C and 21°C).
- Results showed that at the lower temperature, contaminants led to negative outcomes like reduced protein content and metabolism in clams, while their antioxidant responses varied, showing some protective effects, but still resulted in cellular damage.
Nowadays, multi-walled carbon nanotubes are considered to be emerging contaminants and their impact in ecosystem has drawn special research attention, while other contaminants, such as caffeine, have more coverage in literature. Despite this, the effects of a combination of the two has yet to be evaluated, especially considering predicted temperature rise. In the present study a typical bioindicator species for marine environment, the clam Ruditapes decussatus, and classical tools, such as biomarkers and histopathological indices, were used to shed light on the species' response to these contaminants, under actual and predicted warming scenarios.
View Article and Find Full Text PDFPurpose: To assess the long-term efficacy and safety of epithelium-off corneal cross-linking according to the Dresden protocol (S-CXL) in progressive keratoconus.
Methods: Patients treated with S-CXL from April 2006 to January 2010 at Humanitas Clinical and Research Center, Rozzano, Italy, who completed at least 10 years of follow-up were included. Corrected distance visual acuity (CDVA), refraction, and corneal topography and tomography with Pentacam (OCULUS Optikgeräte GmbH) were evaluated at baseline and 10+ years after the procedure.
Purpose: To evaluate the correlation between changes in maximum keratometry (Kmax) and ABC values from the ABCD Progression Display (Pentacam) in progressive keratoconus (KC) and to evaluate whether the ABC changes were able to detect progression earlier than Kmax.
Setting: Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
Design: Retrospective study.
Purpose: to report five patients all presenting with persistent unilateral epiphora as a sign of unexpected and rare lesions causing Secondary Acquired Nasolacrimal Duct Obstruction (SANDO) and the risks associated to an incomplete diagnostic work-up.
Observations: the cases presented are: (1) Fungus ball, (2) Pyogenic granuloma, (3) Sinonasal inverted papilloma (4) Sinonasal inverted papilloma with synchronous squamous cell carcinoma, (5) Squamous cell carcinoma of the lacrimal sac.
Conclusions And Importance: masses are uncommon but not a rare cause of nasolacrimal duct obstruction.
Objective: Most women suffering from tubal factor infertility do not have a history of pelvic inflammatory disease, but rather have asymptomatic upper genital tract infection. Investigating the impacts of such infections, even in the absence of clinically confirmed pelvic inflammatory disease, is critical to understanding the tubal factor of infertility. The aim of this study was to investigate whether the presence of endocervical bacteria is associated with tubal factors in women screened for infertility.
View Article and Find Full Text PDFMucous membrane pemphigoid (MMP) is a heterogeneous group of rare, systemic, autoimmune subepidermal inflammatory disease that affects mucous membranes and the eye. In its most severe forms, this disease needs systemic therapy, usually based on steroids and immunosuppressant agents. In unresponsive cases or in the presence of contraindications or severe side effects due to conventional systemic corticosteroid and/or immunosuppressant therapy, a therapy shift to high-dose intravenous immunoglobulins (IVIg) has been recommended in other reports.
View Article and Find Full Text PDFBackground And Aims: To evaluate the efficacy of orbital radiotherapy (OR) for the treatment of thyroid eye disease (TED).
Methods: Thirty-five consecutive patients with active TED with contraindications to steroid therapy received a course of OR. Bilateral retrobulbar irradiation was performed with a total dose of 20 Gy.
Purpose: To compare 1-year transepithelial corneal collagen cross-linking with iontophoresis (I-CXL) outcomes with standard CXL (S-CXL) epithelium-off for progressive keratoconus.
Methods: Forty eyes of 40 patients with progressive keratoconus were included in this comparative, prospective clinical study. Corrected distance visual acuity (CDVA), spherical equivalent, cylinder refraction, corneal topography, Scheimpflug tomography, aberrometry, and endothelial cell count were assessed at baseline and at 1, 3, 6, and 12 months of follow-up.
Introduction: Paraneoplastic clinical signs are characterized by a large and heterogeneous variety of manifestations due to several possible underlying neoplasms. Paraneoplastic pemphigus (PNP) is a particular paraneoplastic variety that usually primarily affects the dermic and/or oral mucosa and is characterized by a high rate of mortality (90%). Therefore, it is important to recognize its possible signs early.
View Article and Find Full Text PDFBackground: The purpose of this study was to present a case of paraneoplastic systemic hypertension and fever in an undiagnosed primary ciliary body carcinoma arising in a painful blind eye.
Case Presentation: A 37-year-old white man with a history of blindness since childhood was enucleated for neovascular glaucoma because of intractable pain in his right eye. A histopathological examination revealed a ciliary body carcinoma.
Purpose: To report initial clinical results of transepithelial corneal collagen cross-linking with iontophoresis (I-CXL).
Methods: Twenty eyes of 20 patients diagnosed as having progressive keratoconus who underwent I-CXL were included in this prospective non-randomized clinical study. Corrected distance visual acuity (CDVA), spherical equivalent and cylinder refraction, various corneal topography and Scheimpflug tomography parameters, aberrometry, anterior segment optical coherence tomography, and endothelial cell count were assessed at baseline and at 1, 3, 6, and 12 months postoperatively.
Background: The purpose of this retrospective follow-up study is to evaluate the prevalence of patients with thyroid eye disease presenting with apparent unilateral proptosis and determine the occurrence of exophthalmos in contralateral non-proptotic eye over the time. Associated features with this event were evaluated.
Methods: A cohort of 655 consecutive patients affected by thyroid eye disease with a minimum follow-up of 10 years was reviewed.
Background: Not all exposed vessels carry the same risk of recurrent bleeding, and sometimes endoscopic therapy may not be warranted in the setting of profound acid inhibition therapy.
Objective: To investigate the role of magnification endoscopy (ME) in improving the characterization of exposed vessels in ulcer hemorrhage.
Design: Prospective study.
Purpose: This study assesses the ability of magnification endoscopy to detect residual adenomatous tissue after endoscopic piecemeal resection of colorectal polyps and evaluates the impact of the technique on the incidence of recurrence.
Methods: Patients who underwent endoscopic piecemeal resection for large (>2 cm) sessile colorectal polyps were included. After endoscopic piecemeal resection, both the outer resection margins and the central severed area were inspected with magnification endoscopy.
Background: An evaluation of the prevalence of occult hepatitis B virus (HBV) infection in HIV-positive individuals is important as HBV infection may have an impact on the outcome of the liver disease in these patients.
Materials And Methods: Of the 1,593 HIV-positive subjects enrolled in the Italian Cohort Naïve Antiretroviral (ICONA) program, 175 (10.9%) were selected for inclusion in the study on the basis of hepatitis B surface antigen (HBsAg) negativity and antibody to hepatitis B core antigen (anti- HBc) positivity; 101/175 (58%) were also anti-hepatitis C virus (HCV) positive.
Background: Endoscopic resection of colorectal nonpolypoid lesions requires adequate submucosal lifting of the lesion.
Objective: To evaluate a self-assembled hydro-jet system for tissue elevation to improve endoscopic resection of colorectal nonpolypoid lesions.
Design: Prospective study.