Hyperhomocysteinemia and C677T MTHFR genotype in patients with retinal vein thrombosis.

Introduction: Elevated homocysteine (Hcy) is associated with the risk of deep vein thrombosis, pulmonary embolism, ischemic heart disease, and stroke. Several studies have suggested that hyperhomocysteinemia (HHcy) may predispose to retinal vein thrombosis (RVT) development. The aim of this study is to investigate the relationship between Hcy, C677T methylenetetrahydrofolate reductase (MTHFR) genotype, and RVT in patients compared with controls. Materials and Methods: We evaluated the Hcy plasma level of 3114 consecutive participants in 2 Italian centers during a 2-year period. Hyperhomocysteinemia was found in 99 patients and 136 healthy participants. Of the 99 patients, 20 had RVT with a high prevalence of HHcy in the RVT subgroup (20.2%). This result suggested a possible relationship between HHcy and RVT development. We investigated 105 consecutive patients with recent diagnosis of RVT, and we compared them with 226 healthy controls to evaluate whether HHcy may be a risk factor for RVT. Results: the prevalence of HHcy was higher in patients compared with controls (34.3% vs 14.2%; P < .001). The MTHFR C677T genotype was found in 69 of 105 (65.7%) patients with RVT (heterozygosity: 40 of 105 and homozygosity: 29 of 105). The control group showed the presence of MTHFR C677T genotype in 169 of 226 participants (74.8%; heterozygosity: 100 of 226 and homozygosity: 69 of 226) without difference between the 2 groups (P = .08). Conclusion: our study suggests that HHcy is a possible risk factor for RVT development, while no association was found between RVT and the C677T MTHFR genotype

Predictive ability of a predischarge hour-specific serum bilirubin for hyperbilirubinemia in full term infants

AIM: The aim of this paper was to assess the ability of total serum bilirubin (TSB) levels in the first 3 days of life to predict subsequent nonphysiologic hyperbilirubinemia. METHODS: The predictive ability of an hour-specific nomogram for TSB values in the first week of life was prospectively assessed in 1496 full term neonates admitted to a first level neonatal unit, using a single TSB value or two consecutive ones, when available. RESULTS: The incidence of TSB values > 12 mg/dL was 9.6%, while the incidence of TSB > 15 mg/dL was 2.6%. A sensitivity of 97.9% and a negative predictive value (NPV) of 99.6% were obtained with a single bilirubin determination applying Trend 12, while 82.5% of sensitivity and 99.4% of NPV were obtained with Trend 15. Two consecutive TSB determinations identified all infants reaching TSB values > 12 mg/dL and all neonates but 5 reaching TSB values > 15 mg/dL (92.1% of sensitivity and 99% of NPV) CONCLUSION: The hour-specific TSB determination in the first 3 days of life is able to predict all neonates at risk of nonphysiologic hyperbilirubinemia and could facilitate a safe discharge from the hospital and a targeted intervention and follow-up

The Lack of Ad Hoc Neuropsychological Assessment in Adults with Neurofibromatosis: A Systematic Review

Background: Neurofibromatosis Type 1 (NF1) is a genetic autosomal dominant disorder that affects both the central and peripheral nervous systems. Children and adolescents with NF1 commonly experience neuropsychological, motor, and behavioral deficits. The cognitive profile hallmark of this disorder includes visuospatial and executive function impairments. These cognitive disorders may persist into adulthood. This study aims to analyze previous research studies that have described cognitive dysfunctions in adults with NF1. The purpose of this analysis is to review the neuropsychological and psychological assessment methods used. Methods: A total of 327 articles were identified based on the search terms in their titles and abstracts. The evaluation was conducted by scrutinizing each article’s title, abstract, and text. Results: Only 16 articles were found to be eligible for inclusion based on the pre-defined criteria. The selected studies primarily focus on the development of diagnostic protocols for individuals with NF1. Conclusions: The management of NF1 disease requires a multidisciplinary approach to address symptoms, preserve neurological functions, and ensure the best possible quality of life. However, cognitive impairment can negatively affect psychological well-being. This study suggested that cognitive functions in NF1 patients were not tested using specific measures, but rather were evaluated through intelligence scales. Additionally, the findings revealed that there is no standardized neuropsychological assessment for adults with NF1. To address this gap, it would be helpful to create a specific neuropsychological battery to study cognitive function in NF1 patients during clinical studies. This battery could also serve as a tool to design models for cognitive rehabilitation by using reliable and sensitive measures of cognitive outcomes

The Follow-Up of Eating Disorders from Adolescence to Early Adulthood: A Systematic Review

Eating disorders (EDs) are common among children and adolescents and are characterized by excessive concerns for physical appearance, distorted body image, and fear of gaining weight. The purpose of this review is to evaluate the follow-up of EDs from adolescence to adulthood, analyzing persistence, relapses, and associated comorbidities. We searched scientific articles in PubMed, PsycInfo, Scopus, and Embase through two research strings, one for quantitative outcomes (recovery/persistence, relapse, and remission) and one for the other outcomes (psychiatric and medical comorbidities, substance use, and social-relational complications). From a total of 8043 retrieved articles, we selected 503 papers after exclusion of duplicates and title/abstract screening. After a full-text evaluation, we included 16 studies eligible for this review. We performed a meta-analysis describing the quantitative results, and we created a narrative synthesis for the qualitative outcomes. Results: Our results confirm that EDs can persist in early adulthood in 40.7% of cases with a relapse percentage of 24.5%. Individuals with an ED more frequently present with an empathy deficit and comorbid anxiety and depressive disorders. EDs are chronic and complex disorders, more frequent in females. In most cases, EDs reduce the autonomy of individuals who present many difficulties in affirming their independence from parental family

The follow-up of eating disorders from adolescence to early adulthood: a systematic review.

Eating disorders (EDs) are common among children and adolescents and are characterized by excessive concerns for physical appearance, distorted body image, and fear of gaining weight. The purpose of this review is to evaluate the follow-up of EDs from adolescence to adulthood, analyzing persistence, relapses, and associated comorbidities. We searched scientific articles in PubMed, PsycInfo, Scopus, and Embase through two research strings, one for quantitative outcomes (recovery/persistence, relapse, and remission) and one for the other outcomes (psychiatric and medical comorbidities, substance use, and social-relational complications). From a total of 8043 retrieved articles, we selected 503 papers after exclusion of duplicates and title/abstract screening. After a full-text evaluation, we included 16 studies eligible for this review. We performed a meta-analysis describing the quantitative results, and we created a narrative synthesis for the qualitative outcomes. Results: Our results confirm that EDs can persist in early adulthood in 40.7% of cases with a relapse percentage of 24.5%. Individuals with an ED more frequently present with an empathy deficit and comorbid anxiety and depressive disorders. EDs are chronic and complex disorders, more frequent in females. In most cases, EDs reduce the autonomy of individuals who present many difficulties in affirming their independence from parental family

Traumatic Brain Injury and Related Antisocial Behavioral Outcomes: A Systematic Review

Background and Objectives: Higher level of aggression and antisocial behavior have been found in the period following head trauma. These changes are attributable to specific brain alterations that generally involved frontal lobe, insula and limbic system. A descriptive review was conducted on the specificity of aggressive behavior in relation to traumatic brain injury by evaluating numerous variables, focusing on age at the time of trauma and neuroimaging studies. Materials and Methods: We searched on PubMed and the Web of Science databases to screen references of included studies and review articles for additional citations. From an initial 738 publications, only 27 met the search criteria of describing the relationship between aggression, brain alterations and traumatic brain injury. Results: These findings showed that traumatic brain injury (TBI) is related to changes in behavior, personality and mood. Conclusions: The development of aggressive and criminal behavior is associated with multiple factors, including the etiology of injury, environmental, psychosocial and personality factors and age at the time of trauma

The Effects of Home Automation on Personal and Social Autonomies in Spinal Cord Injury Patients: A Pilot Study

Background: Spinal cord injury (SCI) is a severe and progressive neurological condition caused by trauma to the nervous system, resulting in lifelong disability and severe comorbidities. This condition imposes serious limitations on everyday life, interfering with patients’ social lives and compromising their quality of life, psychological well-being, and daily living activities. Rehabilitation is essential to helping SCI patients gain more independence in their daily routines. Home automation (HA) systems provide personalized support to users, allowing them to manage various aspects of their living environment, promoting independence and well-being. This study aims to demonstrate the efficacy of an HA system in enhancing personal and social autonomies in SCI patients, resulting in improved cognitive function and reduced anxiety–depressive symptoms compared to traditional training. Methods: We enrolled 50 SCI patients undergoing neurorehabilitation at IRCCS Centro Neurolesi (Messina, Italy). These patients were randomly assigned to one of two groups: a control group (CG) and an experimental group (EG). The CG received traditional training, while the EG underwent HA training. We evaluated the patients before (T0) and after (T1) rehabilitation using various scales, including the Montreal Cognitive Assessment (MoCA), the Beck Depression Inventory (BDI), the Hamilton Rating Scale for Anxiety (HRS-A), the 12-Item Short-Form Survey (SF-12), the Functional Independence Measure (FIM), Activities of Daily Living (ADL), Instrumental Activities of Daily Living Scale (IADL), and the EQ-5D-5L. Results: The effect of the experimental treatment showed an improvement in all patients test scores in the EG, especially regarding cognitive functions, mood disorders, activities of daily living, and quality of life. Conclusion: Our findings suggest that HA may be effective in improving daily autonomy and, in turn, alleviating mood disorders and enhancing psychological well-being

Neuropsychological assessment in Niemann-Pick disease type C: a systematic review

Background: The neuropsychological profile of Niemann-Pick type C (NP-C) patients is characterized by an early deterioration in executive functions and attention. There are few studies on cognitive impairment and on neuropsychological assessment of NP-C disease. The purpose of this review is to analyze the studies on a psychological assessment for NP-C patients. Method: This review aims to identify a neuropsychological assessment to evaluate cognitive domains and neuropsychological changes in these patients. There were a total of 73 articles. The search terms were identified as titles and abstracts. All articles were evaluated by title, abstract, and text. Results: Only four of the 73 articles were included because they met the criteria of our review. Furthermore, in these studies, possible diagnostic protocols are proposed on NP-C subjects. Discussion and conclusion: The cognitive impairment in NP-C has a negative impact on daily functioning and quality of life. Early diagnosis could identify cognitive deficits and promote cognitive interventions to improve the neuropsychological profile. The management of NP-C disease should be based on a multidisciplinary approach, to treating symptoms, preserving neurological functions, and guaranteeing the best possible quality of life. Early identification of neurological and psychological symptoms of the disease is necessary in order to decrease the progression of neurological disease and improve patient care and treatment outcomes. Furthermore, research should focus more on cognitive aspects, not only in the diagnostic process but also in the rehabilitation process