Assessment of varus thrust using inertial measurement units.

Background: Varus thrust is common in those with knee osteoarthritis. Varus thrust is traditionally identified with visual analysis or motion capture, methods that are either dichotomous or limited to the laboratory setting. Inertial measurement unit data has been found to correlate with motion capture measures of varus thrust in those with severe knee osteoarthritis, allowing for a quantitative and accessible way of measuring varus thrust.

Pain Self-efficacy Is Associated With Patient-Reported Function in Individuals With Chronic Hip Pain.

Objective: To evaluate the associations between psychological factors (pain self-efficacy, kinesiophobia, and pain catastrophizing), physical activity, and patient-reported hip function in patients presenting to physical therapy with chronic (>3 months) hip pain.

Design: Observational, cross-sectional.

Methods: Participants completed a survey including age, sex, height/weight, symptom duration, 11-item Tampa Scale for Kinesiophobia (TSK-11), Pain Catastrophizing Scale (PCS), Pain Self-Efficacy Questionnaire (PSEQ), and 12-item International Hip Outcome Tool (iHOT-12).

The role of social support in the decision to migrate for childbirth: qualitative evidence from India.

Temporary Childbirth Migration (TCM) involves women returning to their natal homes during or after pregnancy, a common but understudied practice in India and South Asia. This study examines social support practices influencing TCM decisions among Indian women. Factors such as family support, especially from husband, in-laws and parents, play a crucial role in migration decisions during the perinatal period.

Spontaneous Ectopia Lentis in Retinitis Pigmentosa: A Case Report and Review of the Literature.

: We report the successful surgical treatment of a case of spontaneous complete anterior crystalline lens luxation in a patient affected by retinitis pigmentosa (RP), associated with elevated intraocular pressure and pupillary block. Additionally, we review the current literature regarding the association between ectopia lentis and RP. : A 44-year-old female RP patient presented to our emergency department reporting severe ocular pain in her left eye (LE) and sickness.

Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.

Purpose: To report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management.

Case Description: We report a case of a 70-year-old man treated with VN in both eyes. The best corrected visual acuity (BCVA) was 0.

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.

: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p.Tyr142Cys) heterozygous mutation in the cone-rod homeobox gene ( gene) in two unrelated Italian patients.

Peri-implant diseases and systemic inflammation: A preliminary analysis from a cross-sectional survey of patients with hypertension.

Background: The aim of this study was to investigate the association between peri-implant diseases and systemic inflammation assessed by serum C-reactive protein (CRP) levels in a sample of patients with hypertension.

Methods: A total of 151 participants with hypertension were included in a cross-sectional study. The population was divided into six groups according to their peri-implant and periodontal status (healthy controls, mucositis, peri-implantitis, periodontitis, periodontitis and mucositis, periodontitis, and peri-implantitis).

Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.

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.

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.

Biallelic mutations in the RPE65 gene affect nearly 8% of Leber Congenital Amaurosis and 2% of Retinitis Pigmentosa cases. Voretigene neparvovec (VN) is the first gene therapy approach approved for their treatment. To date, real life experience has demonstrated functional improvements following VN treatment, which are consistent with the clinical trials outcomes.

Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic -associated retinopathy.

Purpose: To compare non-syndromic and syndromic forms of -related retinitis pigmentosa (RP) by means of structural optical coherence tomography (OCT) and OCT-angiography (OCTA).

Methods: Observational, cross-sectional, multicenter study. All patients underwent best corrected visual acuity (BCVA) measurement, OCT (Spectralis HRA + OCT, Heidelberg Engineering) and OCTA (OCT DRI Topcon Triton, Topcon Corporation).

Physical Activity and Type 2 Diabetes: In Search of a Personalized Approach to Improving β-Cell Function.

Type 2 diabetes mellitus (T2DM) is one of the most widespread diseases worldwide. Lifestyle interventions, including diet and physical activity (PA), are fundamental non-pharmacological components of T2DM therapy. Exercise interventions are strongly recommended for people with or at risk of developing or already with overt diabetes, but adherence to PA guidelines in this population is still challenging.

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

Background: Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis.

Pregnancies in the United States by Desire for Pregnancy: Estimates for 2009, 2011, 2013, and 2015.

We examine whether changes in U.S. pregnancy, birth, and abortion rates between 2009 and 2015 reflect underlying change in the incidence of pregnancies classified by retrospectively reported pregnancy desires: pregnancies reported as having occurred at about the right time, later than wanted, too soon, or not wanted at all, and those for which individuals expressed other feelings, including uncertainty, ambivalence, or indifference.

Microgravity and the intervertebral disc: The impact of space conditions on the biomechanics of the spine.

The environmental conditions to which astronauts and other military pilots are subjected represent a unique example for understanding and studying the biomechanical events that regulate the functioning of the human body. In particular, microgravity has shown a significant impact on various biological systems, such as the cardiovascular system, immune system, endocrine system, and, last but not least, musculoskeletal system. Among the potential risks of flying, low back pain (LBP) has a high incidence among astronauts and military pilots, and it is often associated with intervertebral disc degeneration events.

Italian return to play protocol after COVID-19 in young competitive and professional athletes: diagnostic yield and cost-benefit analysis.

Background: Return to play (RTP) protocols have been proposed to early detect cardiovascular involvement due to COVID-19 and reduce the risk of sports-related sudden cardiac death. However, uncertainties remain about the true prevalence of COVID-19 myopericarditis, the arrhythmic risk and the cost of this protocol.

Methods: We collected data from 217 competitive and professional athletes of both genders who underwent RTP protocol (clinical history, resting and exercise ECG, and echocardiography).

Optic nerve involvement in -related disease: observations from a multicentric case series.

Background: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus appearance tend to be normal. To date, several CACNA1F gene variants have been linked to a CSNB phenotype but only few reports have focused on the optic nerve in this disease.

Association between subclinical atherosclerosis and oral inflammation: A cross-sectional study.

Background: The aim of this cross-sectional study was to investigate the association between carotid intima-media thickness (c-IMT) values and periodontal and peri-implant diseases in a sample of patients with hypertension.

Methods: A total of 151 participants with presence of at least one dental implant in function for >5 years were recruited. Anthropometric measurements, 24-h ambulatory blood pressure monitoring, ultrasound assessment of carotid arteries (c-IMT and presence of plaque) were recorded and venous blood samples obtained.

Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.

Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000. So far, a total of around 800 orphan medicinal products have been approved by the European Medicines Agency, however the utilization profile of orphan drugs has yet to be explored. This study aimed at assessing the utilization profile of orphan drugs authorized for marketing by the Italian Medicines Agency using population-based data.

Myocarditis in Athletes Recovering from COVID-19: A Systematic Review and Meta-Analysis.

Background: To assess the event rates of myocarditis detected by Cardiac Magnetic Resonance (CMR) in athletes who recovered from COVID-19.

Methods: A systematic literature search was performed to identify studies reporting abnormal CMR findings in athletes who recovered from COVID-19. Secondary analyses were performed considering increased serum high sensitivity troponin (hs-Tn) levels and electrocardiographic (ECG) and echocardiographic (ECHO) abnormalities.

Consolidative active scanning proton therapy for mediastinal lymphoma: selection criteria, treatment implementation and clinical feasibility.

Aims: Proton therapy (PT) represents an advanced form of radiotherapy with unique physical properties which could be of great advantage in reducing long-term radiation morbidity for cancer survivors. Here, we aim to describe the whole process leading to the clinical implementation of consolidative active scanning proton therapy treatment (PT) for mediastinal lymphoma.

Methods: The process included administrative, technical and clinical issues.

Endocrine Disruptors and Obesity: An Overview.

Obesity is a growing pandemic. Endocrine-disrupting chemicals are widespread in the environment. In this perspective, the authors examine the issue related to the exposure to several chemicals with endocrine-disrupting properties as promoting factors to obesity.

Choroidal Caverns in Stargardt Disease.

Purpose: To report choroidal caverns in patients affected by recessive Stargardt disease (STGD1) and to investigate its clinical features.

Methods: Retrospective analysis of STGD1 patients recruited at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence from 2012 to 2017. Patients included in the study underwent a complete ophthalmic examination including best-corrected visual acuity, color fundus photography, fundus autofluorescence, optical coherence tomography (OCT) and OCT angiography.

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene.

Methods: This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements. The data, including imaging, were collected using an electronic clinical research form and were reviewed at a single center to improve consistency.