Aqueous humor (AH) can be easily and safely used to evaluate disease-specific biomarkers in ocular disease. The aim of this study was to identify specific proteins biomarkers in the AH of ...retinoblastoma (RB) patients at various stages of the disease. We analyzed the proteome of 53 AH samples using high-resolution mass spectrometry. We grouped the samples according to active vitreous seeding (Group 1), active aqueous seeding (Group 2), naive RB (group 3), inactive RB (group 4), and congenital cataracts as the control (Group 5). We found a total of 889 proteins in all samples. Comparative parametric analyses among the different groups revealed three additional proteins expressed in the RB groups that were not expressed in the control group. These were histone H2B type 2-E (HISTH2B2E), InaD-like protein (PATJ), and ubiquitin conjugating enzyme E2 V1 (UBE2V1). Upon processing the data of our study with the OpenTarget Tool software, we found that glyceraldehyde 3-phosphate dehydrogenase (GAPDH) and CD44 were more highly expressed in the RB groups. Our results provide a proteome database regarding AH related to RB disease that may be used as a source of biomarkers. Further prospective studies should validate our finding in a large cohort of RB patients.
Vernal keratoconjunctivitis (VKC) is a chronic, inflammatory-allergic disease of the cornea and conjunctiva. Environmental factors, such as light exposure, have been supposed to play a role in the ...pathogenesis of ocular inflammation and in the worsening of VKC.
The aim of this study was to estimate the impact of reduced sunlight exposure in patients with VKC during the imposed lockdown period for the SARS-CoV-2 pandemic emergency.
We retrospectively reviewed data of patients with VKC visited during spring season in 2020 and 2019 at Vernal Keratoconjunctivitis Multidisciplinar Outpatient of our Hospital.
Subjective symptoms were evaluated by Visual analogue scale (VAS) and VKC severity was graded by Bonini scale. Quality of life was evaluated by Correlations of Quality of Life in Children with Vernal Keratoconjunctivitis (QUICK) questionnaire. The number of hours of e-learning as well as of hours spent in front of a bright screen (PC, TV, mobile, tablet play station, and so on) was also investigated.
Twenty-nine male subjects (mean ± SD age: 8.74 ± 2.40 years) with VKC were included in the study. Most of the patients (17/29) were sensitized individuals.
No significant changes in Bonini severity score and in VAS evaluation were observed comparing 2020 to 2019 values. Ten (34.4%) patients did benefit from the reduced sunlight exposure. The increased use of bright screens was associated with worsening of VKC severity.
Sunlight exposure plays a role in VKC exacerbation in about one third of patients. The number of hours spent in front of bright screens may influence severity of VKC symptoms.
Retinoblastoma (RB) is the most common tumor of the eye in early childhood. Although recent advances in conservative treatment have greatly improved the visual outcome, local tumor control remains ...difficult in the presence of massive vitreous seeding. Traditional biopsy has long been considered unsafe in RB, due to the risk of extraocular spread. Thus, the identification of new biomarkers is crucial to design safer diagnostic and more effective therapeutic approaches. Exosomes, membrane-derived nanovesicles that are secreted abundantly by aggressive tumor cells and that can be isolated from several biological fluids, represent an interesting alternative for the detection of tumor-associated biomarkers. In this study, we defined the protein signature of exosomes released by RB tumors (RBT) and vitreous seeding (RBVS) primary cell lines by high resolution mass spectrometry. A total of 5666 proteins were identified. Among these, 5223 and 3637 were expressed in exosomes RBT and one RBVS group, respectively. Gene enrichment analysis of exclusively and differentially expressed proteins and network analysis identified in RBVS exosomes upregulated proteins specifically related to invasion and metastasis, such as proteins involved in extracellular matrix (ECM) remodeling and interaction, resistance to anoikis and the metabolism/catabolism of glucose and amino acids.
Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the ...timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame ocular malformations and identify underlying genetic conditions. The purpose of this pictorial review is to describe the imaging features of the main ocular malformations and the related ophthalmologic findings in order to provide a clinico-radiological overview of these abnormalities to the clinical radiologist. Sight is a crucial sense for children to explore the world and relate with their parents from birth. Vision impairment or even blindness secondary to ocular malformations deeply affects children’s growth and quality of life.
Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, ...typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.
Childhood obesity has been correlated with coronary heart disease, but the correlation with microvascular disease remains unclear. The retinal microcirculation is affected early in the process of ...atherosclerosis and it offers the opportunity to indirectly study the effects of obesity on small brain vessels. Insulin-like growth factor 1 (IGF-I) is involved in angiogenesis and it has a crucial role in retinal vascularization.
A single-centre cross-sectional study was performed in 268 children and adolescents (116 males; mean age 13.03 ± 1.9 years,) with overweight/obesity, in order to identify risk factors for early retinopathy.
Nine patients (3.3%) showed signs of retinopathy, defined as arteriovenous crossings and/or papilledema. Body mass index and fat mass, analysed by Dual X-ray Absorptiometry, were not different in patients with or without retinopathy. Patients with retinopathy were pubertal and showed higher waist circumference (107.78 ± 15.83 versus 99.46 ± 10.85 cm; p: 0.027), waist circumference/height ratio (0.66 ± 0.07 versus 0.62 ± 0.05; p: 0.04) and IGF-I SDS (0.03 ± 1.3 versus - 0.66 ± 0.9; p: 0.04). Multivariate analysis (after correction for sex, age, family history of type 2 diabetes mellitus, obesity, cardiovascular disease, hypertension and dyslipidaemia) showed that waist circumference/height ratio and IGF-I SDS were the only variables independently correlated with the presence of retinopathy.
Retinal vascular changes may become evident as an early complication of overweight and obesity, even during childhood and adolescence. Relatively high levels of IGF-I during this phase may act as an additional risk factor for microvascular damage. The screening for retinopathy should be proposed to all children and adolescents with overweight/obesity.
Introduction:
Vascular orbital lesions in pediatric population represent a demanding therapeutic challenge which requires a multidisciplinary team. In severe cases, orbital enucleation can be ...considered. Surgical management of enucleated orbital region in children, differently from the adults, represents a challenging procedure owing to the intrinsic relation between volume replacement and normal orbital growth. Many reconstructive options have been proposed, and many donor sites have been utilized for this purpose but each one have demonstrated potential disadvantages. Despite its well-known versatility, no report of the vastus lateralis free flap in children requiring orbital reconstruction exists in literature. Herein, we propose this surgical strategy as a valid option for the reconstruction of an extended orbital defect in a pediatric patient suffering from a mixed type of vascular malformation.
Material and Methods:
A patient was referred from a foreign country with an unclear medical history, presenting exorbitism and exophthalmos, proptosis of the eyeball, visus 4/10, and limited ocular motility. We made clinical-instrumental investigations with a diagnosis of complex vascular malformation. It expanded in intraorbital and retrorbital space with bulb anterior dislocation and optic nerve involvement. We performed an emptying of the orbital content
via
transconjunctival and
via
coronal incision with eyelid preservation. A free vastus lateralis muscle flap was used for reconstruction, filling the orbital cavity. We anastomosed the flap on the superficial temporal artery. An ocular conformator was then positioned.
Results:
We report the result at 12 months, showing a good orbital rehabilitation with an adequate prosthetic cavity, a good recovery of volume and facial symmetry, guaranteeing balanced orbital and periorbital growth. There were no major or minor complications associated with the procedure.
Discussion:
The reconstruction of the orbit remains a “surgical challenge” both in adults, whose goal is the restoration of volume, adequate symmetry and facial esthetics, and children, in which correcting the asymmetry has the additional objective to balance orbital growth. Many reconstructive techniques have been proposed, including the use of free flaps. The versatility of the free vastus lateralis muscle flap is well-known. It offers adequate amount of tissue with minimal morbidity to the donor site, provides a long pedicle, gives the possibility of simultaneous work in a double team, and has a constant anatomy and a safe and rapid dissection. There are no descriptions of its use for pediatric orbital reconstructions.
Conclusions:
In our opinion, the free vastus lateralis flap should be included as one of the best option for orbital pediatric reconstruction after enucleation.
Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous. These two factors ...play a major role in the difficulties of establishing standard diagnostic and therapeutic protocols. Isolated CMP in children is a frequent finding, mainly caused by sarcomeric gene variants with a detection rate that can reach up to 50% of analyzed cohorts. Complex multisystemic forms of pediatric CMP are even more heterogenous. Few studies in literature take into consideration this topic as the main core since it represents a rarity (systemic CMP) within a rarity (pediatric population CMP). Identifying etiology in this cohort is essential for understanding prognosis, risk stratification, eligibility to heart transplantation and/or mechanical-assisted procedures, preventing multiorgan complications, and relatives' recurrence risk calculation. The previous points represent a cornerstone in patients' empowerment and personalized medical care approach. The aim of this work is to propose a new approach for an algorithm in the setting of the diagnostic framework of systemic pediatric CMP. On the other hand, during the literature review, we noticed a relatively common etiologic pattern in some forms of complex/multisystem CMP. In other words, certain syndromes such as Danon, Vici, Alström, Barth, and Myhre syndrome share a common pathway of directly or indirectly defective "autophagy" process, which appears to be a possible initiating/triggering factor for CMPs. This conjoint aspect could be important for possible prognostic/therapeutic implications in this category of patients. However, multicentric studies detailed functional and experimental models are needed prior to deriving conclusions.
Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease ...results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.
Visual performance of eyes with congenital pathologies is conditioned by an early diagnosis. Families having problems in accessing health services risk to delay or miss both an early diagnosis and an ...early treatment and amblyopia (lazy eye) prevention.
In our hospital, all full-term, healthy newborns are thoroughly examined by an ophthalmologist in the maternal ward, 1 to 3 days after birth.
Among the first 5000 newborns examined, a high incidence of congenital pathologies compared to international literature was reported, with differences between Caucasians and non-Caucasians.
Performing an early in-hospital thorough eye examination in all newborns as a screening would be an effective way to miss none and to start an early and effective pathway of disease treatment.
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