Prevention and Treatment of Medical Diseases in Vulnerable Populations

Vulnerability, as a phenomenon of analysis, has long been the subject of extensive social and economic policy reflections, aimed at planning social welfare interventions to support the areas most exposed to the effects of the economic crisis, especially with reference to the presence of potentially weaker segments of the population [...] Full article

Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema, optical atrophy, motility disorders, pupil and lid dysfunction, and neurotrophic keratitis can be observed as indirect signs. An observational study was conducted with the aim to collect clinical data and describe the most frequent NF2 ocular manifestations. Fourteen patients affected by NF2, according to the Manchester criteria, were enrolled. All patients underwent complete ophthalmologic and orthoptic evaluation and a spectral domain optical coherence tomography. Ocular manifestations were present in all patients. The slit lamp evaluation of the anterior segment highlighted cataracts in five patients, keratitis in two patients, corneal leukoma in two patients, and corneal pannus in one patient. Fundus oculi and OCT evaluation identified epiretinal membranes in four patients, vitreoretinal tufts in three patients, optic nerve edema in one patient, and retinal hamartoma in one patient. Moreover, the orthoptic evaluation identified different types of ocular motility disorders in seven patients. This is a descriptive study of a rare disease with poor previous literature. Clinical data are shown, emphasizing the role of NF2-specific ophthalmological and orthoptic findings to help establish an early diagnosis. Full article

Purpose: To evaluate ocular motility (OM) abnormalities associated with Ehlers-Danlos Syndrome (EDS). Materials and methods: In this cross-sectional observational study, patients with EDS underwent a complete orthoptic examination. The following orthoptic tests were performed: corneal light reflex test, stereoscopic test, cover test, OM assessment, evaluation of eye pain in different gaze positions and red filter test for diplopia. Results: The corneal light reflex test at 33 cm showed an intermittent divergent deviation in 31.7% of patients and an intermittent horizontal deviation associated with a vertical deviation in 4.9% of patients. A manifest strabismus was observed in 2.4% of patients, whereas 2.4% of patients showed a microstrabismus. The corneal light reflex test at 5 m revealed microstrabismus in 9.8% and manifest strabismus in 2.4% of our patients. Moreover, intermittent exotropia was observed in 2.4% of cases. No significant alterations involving the inferior rectus and the superior oblique muscles were observed. Significant associations were observed between medial rectus muscle deficit of both eyes with pain (p = 0.020) and diplopia (p = 0.014). Furthermore, a significant association between lateral rectus muscle alteration of both eyes and pain was observed (p = 0.004). Conclusions: Our results show various OM alterations in patients with EDS, specifically superior and medial rectus muscle hypofunction. A full orthoptic evaluation in these patients is recommendable to detect OM involvement and possible ligamentous laxity changes over time through an accurate OM assessment. Full article

Adherence to physical exercise is especially low in patients with fibromyalgia, and there is a tendency to overestimate its performance. This study explores the relationship between perceived and actual walking behavior in patients with fibromyalgia, including self-efficacy as a mediating variable. A prospective study with two time points (with one week between them) was carried out on 132 women diagnosed with fibromyalgia. Self-efficacy towards exercise was assessed at the first time point, and perceived intensity of physical activity and “objective” walking amount (accelerometer) in relation to the previous week were assessed at the second point. Physical and emotional symptoms and the consumption of drugs were also evaluated as covariates. The results show that perception of vigorous-intensity exercise was related to walking (accelerometer) (effort greater than 6 METs). This relationship was explained by the mediating effect of self-efficacy and was not interfered with either by the symptoms or by the consumption of drugs. High self-efficacy regarding physical exercise was directly related to walking behavior despite patients’ interpretation of this activity as a vigorous physical exercise. In intervention and rehabilitation programs, it would be interesting to take into account and promote the self-efficacy of patients in relation to physical exercise in order to maintain adherence to walking. Full article

Introduction: Immune Checkpoint Inhibitor (ICI) drugs have led to a revolution in the treatment of different forms of cancer, shifting the target of action from cancer cells to the patient’s immune system, enhancing their responses against the tumor itself. On the other hand, this mechanism can lead to responses against oneself, with the appearance of immune-related adverse events. The aim of the present study was to examine the immune-related adverse events (irAEs) affecting the mucous membranes of the oral cavity and the possible correlation between these and skin toxicities, which are reported in the literature as the most common adverse events. Materials and methods: Thirteen patients treated with anti-Programmed Death (PD-1) drugs (pembrolizumab, nivolumab, and cemiplimab) were selected. The data collected include the general history of the patient and the type of anticancer treatment. The sample was then analyzed by recording the alterations found on the mucous membranes of the oral cavity and on the skin. Finally, the average time that elapsed between the start of immunotherapy and the onset of lesions was analyzed. Results: Patients often had multiple lesions at the same time. Hyperkeratosis was found in three patients, candidiasis (pseudomembranous and median rhomboid glossitis) in two patients, epithelial atrophy in four patients, and ulcerative areas in two patients. One patient reported xerostomia with dysphagia. The anatomical areas most involved were the dorsal tongue and palate. Skin irAEs included skin rash erythema (n = 7) with diffuse redness, the presence of small bubbles with a crusty outcome, and dryness of the skin in the affected areas. Discussion: In the literature, there are few studies that analyze how irAEs affect the mucous membranes of the oral cavity in patients treated with ICI drugs. The most frequently described lesions are lichenoid reactions and xerostomia. Moreover, the development of mucositis, generally of low grade, has been reported. The present study has confirmed the data from the literature and, in addition, reports two cases of candidiasis, an adverse event that has never been shown in the literature. Conclusions: irAEs have the potential to affect any organ. The only way to avoid the occurrence of serious events that is currently available is early interception, which is only possible through the knowledge of these manifestations. It is therefore considered necessary to deepen our knowledge of oral irAEs and their correlation with dermatological toxicities, allowing for a multidisciplinary classification of the patient and a timely diagnosis of any adverse event and avoiding progression to more advanced stages, which could lead to the temporary or permanent suspension of anticancer drugs. Full article

Introduction: The number of people with migrant status living in Europe is proliferating. Most of the refugees in Italy come from war zones, and many of them denounce having been victims of persecutory acts in their country of origin. Highly cultured migrant populations have shown better results and oral health behaviour than those who were poorly cultured. The PROTECT project aimed to build a network for the early management of head and neck pathologies among refugees and migrants, promoting the dissemination of correct information about the prevention and treatment of these pathologies. Materials and methods: A national cross-sectional study among the refugees and migrant population in the Lazio region, Italy, from February 2018 to September 2021 was performed. The oral health of 3023 participants was investigated within a network of 56 reception centres and cultural associations. Data collected via an oral health survey questionnaire gathered information on participants’ demographic factors, migration status and dental behaviours and clinical examinations of the participants with the help of mouth mirrors, periodontal probes and artificial light. Results: The mean age was 31.6 ± 13.1, and among all the subjects, 2058 were male (68.1%) and 965 were women (41.9%). Most participants were born in Nigeria, followed by Bangladesh, Pakistan, Somalia, Mali and Senegal. The overall oral pain prevalence was 48.2%. The prevalence of patients claiming poor oral hygiene was 32.4%; 36.2% of the subjects consumed high amounts of sugar; and 26.7% saw their dentist for a check-up in the last year. At the clinical examination, 68.9% of patients had caries experience (considering decay of deciduous teeth, and caries of permanent teeth and teeth with fillings), with 32.2% showing pulpal involvement. Low levels of oral hygiene were also found at the clinical examination, with 46.5% of patients presenting plaque and calculus. The trend of the DMFT index was found to be 5.41. Good periodontal health (CPI = 0) was present in approximately 33.5% of patients. The CPI = 1 index reported bleeding from gingivitis in 37% of patients; tartar was found in 27% of patients (CPI = 2). The percentage of patients with CPI = 3 was 3.6%. Just over half (52.2%) of the migrants examined had malocclusion, and only 0.7% had a malocclusion in treatment. Conclusions: The goal to be achieved is to develop education and prevention programs for head–neck diseases, and perhaps even more. The first step towards this goal can be removing the obstacles migrants encounter in accessing health care. Full article

Speech-in-noise tests are used to assess the ability of the human auditory system to perceive speech in a noisy environment. Early diagnosis of hearing deficits helps health professionals to plan for the most appropriate management. However, hospitals and auditory clinics have a shortage of reliable Arabic versions of speech-in-noise tests. Additionally, access to specialized healthcare facilities is associated with socioeconomic status. Hence, individuals with compromised socioeconomic status do not have proper access to healthcare. Thus, In the current study, a mobile and cost-effective Arabic speech-in-noise test was developed and tested on 30 normal-hearing subjects, and their ability to perceive words-in-noise was evaluated. Moreover, a comparison between two different background noises was explored (multi-talker babble noise and white noise). The results revealed a significant difference in the thresholds between the two types of background noises. The percent-correct scores ranged from 100% to 54.17% for the white background noise and 91.57% to 50% for the multi-talker babble background noise. The proposed Arabic word-in-noise screening tool has the potential to be used effectively to screen for deteriorated speech perception abilities, particularly in low-resource settings. Full article

Background: Living in socio-economically disadvantaged neighborhoods can predispose persons to numerous health conditions. The purpose of this study was to report the general health conditions of persons living in disadvantaged neighborhoods in Rome, Italy, a large European metropolitan city. Participants were reached through the mobile facilities of the primary care services of the Dicastery for the Charity Services, Vatican City. Methods: People living in disadvantaged neighborhoods were reached with mobile medical units by doctors, nurses, and paramedics. Demographic characteristics, degree of social integration, housing conditions, and history of smoking and/or alcohol use were investigated. Unstructured interviews and general health assessments were performed to investigate common acute and/or chronic diseases, and history of positivity to COVID-19. Basic health parameters were measured; data were collected and analyzed. Results: Over a 10-month period, 436 individuals aged 18–95 years were enrolled in the study. Most lived in dormitories, whereas a few lived in unsheltered settings. Most participants (76%) were unemployed. Smoking and drinking habits were comparable to the general population. The most common pathological conditions were cardiovascular diseases in 103 subjects (23.39%), diabetes in 65 (14.9%), followed by musculoskeletal system disorders (11.7%), eye diseases (10.5%), psychiatric conditions such as anxiety and depression (9.2%), and chronic respiratory conditions (8.7%). Conclusions: Subjects in our sample showed several pathologic conditions that may be related to their living conditions, thus encouraging the development of more efficient and effective strategies for a population-tailored diagnosis and treatment. Full article

By definition, children constitute a vulnerable population, especially when they are chronically ill and/or disabled. A characteristic of chronically ill and disabled children is that they also suffer from indirect effects of their disease, such as immobilization, chronic inflammation, reduced time outdoors in the sun, osteotoxic effects of disease-targeted therapy (like glucocorticoids), and poor nutrition. All these factors may lead to bone fragility due to secondary osteoporosis, a co-morbidity that may be overlooked in the context of serious underlying diseases. The ultimate goal of osteoporosis diagnosis and monitoring in this setting is the early identification, prevention, and treatment of low-trauma long bone and vertebral fractures; indeed, vertebral fractures are a frequently under-diagnosed manifestation of overt bone fragility in this context. Efforts to prevent first-ever fractures are also meritorious, including encouragement of weight-bearing activities, optimization of nutritional status, including calcium and vitamin D supplementation, and the diagnosis and treatment of delayed growth and puberty; however, these conservative measures may be insufficient in those at high risk. Numerous natural history studies have shown that vertebral fractures are more common than non-vertebral (i.e., long bone) fractures in at-risk children. Not surprisingly, the cornerstone of secondary osteoporosis monitoring is lateral spine imaging for the early detection of vertebral collapse. Although dual-energy x-ray absorptiometry (DXA) is the gold standard to measure bone mineral density, digital X-ray radiogrammetry may be used as a surrogate measure of bone strength if dual-energy x-ray absorptiometry is not available. In the event that preventive measures fail, treatment with bisphosphonates may be appropriate. Typically, treatment with intravenous bisphosphonates is reserved for children with overt bone fragility and limited potential for spontaneous recovery. However, there is increasing attention to very high-risk children, such as boys with Duchenne muscular dystrophy, who may benefit from bisphosphonate therapy prior to first-ever fractures (given their high fracture frequency and essentially absent potential for spontaneous recovery). This article provides a contemporary overview of the definition and diagnosis of osteoporosis in children with chronic illness, along with the approach to monitoring those at risk and the evidence for currently recommended intervention strategies. Full article

Uveitic glaucoma (UG) is a potentially blinding complication of intraocular inflammation and is one of the most common causes of secondary glaucoma in pediatric ophthalmology. Overall management of UG is often challenging and requires a multidisciplinary assessment and careful follow-up. The overlap with steroid-induced glaucoma (SIG) is quite common, as well as the failure of medical and surgical therapy; nevertheless, few recent papers have dealt with this topic. We review the features and the clinical approach to UG in childhood, discussing the treatments available in the pediatric population. Full article

Severe gastrointestinal symptoms are one of the main reasons for switching from conventional artificial tube feeding to blenderized tube feeding (BTF). This study aimed to describe and quantify the impact of BTF on gastrointestinal symptoms in children and adults. We analyzed four databases (PubMed, Scopus, Cochrane Library, and Google Scholar). The review was performed following the PRISMA extension for Scoping Reviews checklist. The methodological quality of articles was assessed following the NIH quality assessment tools. The initial search yielded 535 articles and, after removing duplicates and off-topic articles, 12 met the inclusion criteria. All included papers unanimously converged in defining an improvement of gastrointestinal symptoms during blenderized feeding: the eight studies involving pediatric cohorts report a decrease from 30 to over 50% in gagging and retching after commencing BTF. Similar rates are reported for constipation and diarrhea improvement in most critically ill adults. Experimental studies and particularly randomized controlled trials are needed to develop robust evidence on the effectiveness of BTF in gastrointestinal symptom improvement with prolonged follow-up and adequate medical monitoring. Full article

Congenital muscular dystrophies (CMDs) are a heterogeneous group of genetic neuromuscular disorders. They usually occur at birth or in early childhood, with delayed acquisition of motor milestones, and diffuse muscle weakness. A dystrophic pattern is evident on the muscle biopsy. They are highly variable both in terms of severity and clinical evolution and in terms of pathogenetic biochemical mechanisms. The aim of this review is to collect and summarize the current knowledge of motor function in pediatric patients with congenital muscular dystrophies and the instruments used to assess it. This scoping review was conducted using the methodology of PRISMA (extension for Scoping Reviews, PRISMA-ScR). Two databases were queried from January 2002 to November 2022. Articles were identified based on title and abstract. Full-text papers published in peer-reviewed English-language journals were selected. It emerged that motor functional aspects are still underinvestigated in CMD patients, probably due to the rarity of these conditions and the phenotypic variability. The scales used to assess motor function are heterogeneous, as are the age groups considered. Finally, the predominant type of research design is cross-sectional; few studies analyze the progression of motor function over time. All these factors make it difficult to correlate the results of different publications and stress the need for more accurate and shared protocols for assessing motor function in these patients. Full article

Women are two to four times more prone to anterior cruciate ligament (ACL) injuries than men. This raises questions about the role of the hormonal cycle in knee laxity, which may lead to increased tibial displacement and thus ACL tears. The objective was to update scientific knowledge on the influence of the menstrual cycle on knee laxity and the risk of ACL injury, with a focus on anterior tibial displacement, and on hormonal levels influenced or not by oral contraceptive use. Observational studies obtained from Pubmed, Web of Sciences and Scopus and published between 2015 and 2022 were included in this review. Studies were required to include data on menstrual cycle with/without oral contraceptives (OC) and knee laxity and/or ACL injury. A total of ten studies were selected for this systematic review. Three studies about hormone concentration and knee laxity showed an increase in estradiol during the ovulatory phase compared to the follicular phase. Of the five studies on OC, four showed a decrease in ACL laxity. Finally, four studies assessed ACL injury. The menstrual cycle appears to influence knee laxity in women. An increase in certain hormone levels was observed in the ovulatory and luteal phases when the anterior tibial translation was greater in the knee. However, based on the literature, we cannot conclude that there is a correlation between the menstrual cycle and the risk of ACL injury. Full article

Italy is a natural corridor for entry into Europe, receiving thousands of refugees and migrants needing socio-economic and health assistance yearly. Impaired vision due to eye disease is estimated to affect at least 2.2 billion people worldwide, especially in this underprivileged population. To overcome this deep disparity, new intervention strategies, such as the PROTECT project, were planned with the aim of assessing, in the context of the head–neck area, the eye health in vulnerable applicants and holders of international protection. A total of 3023 migrants were involved in the project. Demographic factors and eye history were collected using a questionnaire. Using portable diagnostic instruments, an eye screening including monocular visual acuity, intraocular pressure, anterior segment, and ocular fundus was performed. The mean age was 31.6 ± 13.1 years and more than 50% underwent the first eye evaluation. Vision impairment was claimed by 16.6% of subjects and the most frequent diseases diagnosed were: refractive errors (11%), strabismus (6%), red eye (6%), cataract (5.3%), and ocular hypertension (1%). Retinal alterations were observed in 5% of migrants. The PROTECT project allows us to increase the accessibility of head–neck disease prevention care. Moreover, our results confirm the utility of an eye screening assessment for early identification of the most relevant and preventable ocular diseases, especially in disadvantaged populations. Full article

Introduction: The number of migrants living in Europe is growing rapidly. The PROTECT project is a national study conducted among refugees and migrants in the Lazio region, Italy from February 2018 to September 2021 to evaluate their otolaryngological, dental, and ophthalmic health status. This article reports the results of this study with a special focus on otolaryngological conditions and diseases. Materials and methods: A total of 3023 participants were included in the project. Data on the participants’ demographic factors, migration status, and otolaryngological history were collected using a questionnaire. Each patient underwent clinical ear, nose, and throat examination, and the main otolaryngological conditions and diseases were noted. Results: nearly two-thirds of participants were males (68.1%). The mean age was 31.6 ± 13.1. Most of the participants were born in Nigeria, followed by Bangladesh, Pakistan, Somalia, Mali, and Gambia. The prevalence of chronic noise exposure was 5.2%. Unilateral hearing loss was reported by 6.5% of the subjects, and bilateral hearing loss by 3.6%. The most frequent symptoms reported in the questionnaire were snoring (10.4%), nasal obstruction (5.9%), vertigo (5.0%), otalgia (4.5%), and tinnitus (4.2%). At the clinical examination, the most frequent findings were nasal septum deviation (25.2%), ear wax (6.5%), hypertrophic palatine tonsils (5.3%), and tympanic membrane perforation (1.3%). Conclusions: the PROTECT project allowed for the evaluation of otolaryngological, dental, and ophthalmological conditions in over 3000 migrants, giving them the possibility to access specialist care. Full article