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BACKGROUND AND OBJECTIVE: The World Health Organization physical activity guidelines for people living with disability do not consider the needs of people living with moderate-to-severe traumatic brain injury. This paper describes the qualitative co-development of a discrete choice experiment survey to inform the adaption of these guidelines by identifying the physical activity preferences of people living with moderate-to-severe traumatic brain injury in Australia. METHODS: The research team comprised researchers, people with lived experience of traumatic brain injury and health professionals with expertise in traumatic brain injury. We followed a four-stage process: (1) identification of key constructs and initial expression of attributes, (2) critique and refinement of attributes, (3) prioritisation of attributes and refinement of levels and (4) testing and refining language, format and comprehensibility. Data collection included deliberative dialogue, focus groups and think-aloud interviews with 22 purposively sampled people living with moderate-to-severe traumatic brain injury. Strategies were used to support inclusive participation. Analysis employed qualitative description and framework methods. RESULTS: This formative process resulted in discarding, merging, renaming and reconceptualising attributes and levels. Attributes were reduced from an initial list of 17 to six: (1) Type of activity, (2) Out-of-pocket cost, (3) Travel time, (4) Who with, (5) Facilitated by and (6) Accessibility of setting. Confusing terminology and cumbersome features of the survey instrument were also revised. Challenges included purposive recruitment, reducing diverse stakeholder views to a few attributes, finding the right language and navigating the complexity of discrete choice experiment scenarios. CONCLUSIONS: This formative co-development process significantly improved the relevance and comprehensibility of the discrete choice experiment survey tool. This process may be applic

BACKGROUND: In 2020, the World Health Organization (WHO) released the first global physical activity and sedentary behaviour guidelines for children and adults living with disability. The evidence informing the guidelines though is not specific to people living with traumatic brain injury (TBI), but rather comes from other disabling conditions such as Parkinson's disease, and stroke. There remains a clear lack of direct evidence of the effects of physical activity for people living with TBI. The objective of this rapid review was to identify direct evidence of the effect of physical activity on health outcomes in people with moderate-to-severe TBI to inform adaptation of the WHO physical activity guidelines into clinical practice guidelines. METHODS: We conducted a rapid systematic review with meta-analysis of randomised controlled trials, including people of any age with moderate-to-severe TBI, investigating physical activity interventions compared to either usual care, a physical activity intervention with different parameters, or a non-physical activity intervention. Four databases (CENTRAL, SPORTDiscus, PEDro, Ovid MEDLINE) were searched from inception to October 8, 2021. The primary outcomes were physical function, cognition, and quality of life. RESULTS: Twenty-three studies were included incorporating 812 participants (36% females, majority working-age adults, time post-TBI in studies ranged from 56 days (median) to 16.6 years (mean)). A range of physical activity interventions were evaluated in rehabilitation (n = 12 studies), community (n = 8) and home (n = 3) settings. We pooled data from the end of the intervention for eight outcomes. Participation in a virtual reality physical activity intervention improved mobility, assessed by the Community Balance and Mobility Scale (range 0 to 96; higher score indicates better mobility) more than standard balance training (two studies, 80 participants, Mean Difference = 2.78, 95% CI 1.40 to 4.16; low certainty eviden

Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual disability, infantile spasms, and epileptic encephalopathy. Girls with a recurrent de novo c.3013C>T; p.(Asn107Ser) variant have normal transferrin glycosylation. Using a highly sensitive, semi-quantitative flow injection-electrospray ionization-quadrupole time-of-flight mass spectrometry (ESI-QTOF/MS) N-glycan assay, we report subtle abnormalities in N-glycans that normally account for <0.3% of the total plasma glycans that may increase up to 0.5% in females with the p.(Asn107Ser) variant. Among our 11 unrelated ALG13-CDG individuals, one male had abnormal serum transferrin glycosylation. We describe seven previously unreported subjects including three novel variants in ALG13 and report a milder neurodevelopmental course. We also summarize the molecular, biochemical, and clinical data for the 53 previously reported ALG13-CDG individuals. We provide evidence that ALG13 pathogenic variants may mildly alter N-linked protein glycosylation in both female and male subjects, but the underlying mechanism remains unclear.

Wernicke’s encephalopathy (WE) is an acute neurological disorder resulting from thiamine deficiency, commonly found in alcohol use disorder (AUD) patients. Liver transplantation (LT) could represent a risk factor for the onset of WE in AUD patients, due to the onset of chronic depletion of thiamine in this population and the high metabolic demand of surgery and the postoperative period. However, few data are available about the risk of the onset of WE in AUD patients after LT. Here we report three cases of AUD patients who developed WE with confusion and delirium after LT. Prompt parenteral administration of thiamine led to a rapid improvement of the clinical condition and a complete remission of neurological symptoms after 3–4 days. In addition, a search of the available English literature was conducted in order to perform a review of the possible association between the onset of WE and LT in AUD patients. A prophylactic treatment regimen based on the administration of thiamine could be suggested in AUD patients before and after LT. Further studies are needed to determine the optimal regimen of thiamine in the prevention of WE in this setting.

Background & aims: Alcohol use disorder (AUD) represents the most common cause of liver disease. The gut microbiota plays a critical role in the progression of alcohol-related liver damage. Aim of this study was to characterize the gut microbial composition and function in AUD patients with alcohol-associated liver disease (AALD). Methods: This study included 36 AUD patients (14 with cirrhosis) who were active drinkers and an equal number of matched controls. Stool microbial composition, serum levels of lipopolysaccharide, cytokines/chemokines and gut microbiota functional profile were assessed. Results: AUD patients had a decreased microbial alpha diversity as compared to controls (0.092 vs 0.130, P =.047) and a specific gut microbial signature. The reduction of Akkermansia and the increase in Bacteroides were able to identify AUD patients with an accuracy of 93.4%. Serum levels of lipopolysaccharide (4.91 vs 2.43, P =.009) and pro-inflammatory mediators (tumour necrosis factor alpha 60.85 vs 15.08, P =.001; interleukin [IL] 1beta 4.43 vs 1.72, P =.0001; monocyte chemoattractant protein 1 225.22 vs 16.43, P =.006; IL6 1.87 vs 1.23, P =.008) were significantly increased in AUD patients compared to controls and in cirrhotic patients compared to non-cirrhotic ones (IL6 3.74 vs 1.39, P =.019; IL8 57.60 vs 6.53, P =.004). The AUD-associated gut microbiota showed an increased expression of gamma-aminobutyric acid (GABA) metabolic pathways and energy metabolism. Conclusions: AUD patients present a specific gut microbial fingerprint, associated with increased endotoxaemia, systemic inflammatory status and functional alterations that may be involved in the progression of the AALD and in the pathogenesis of AUD.

Alcohol use disorder is the most common cause of advanced liver disease in the Western world. Diagnosis of alcohol use disorder can be difficult because patients with liver disease tend to deny alcohol intake for the fear of being excluded from treatment and because available biomarkers of alcohol intake have poor specificity in these patients. Alcohol abstinence is the cornerstone of the therapy in these patients. However, pharmacological treatments for alcohol use disorders have not been formally tested in patients with advanced liver disease, except for baclofen. Psychosocial intervention became crucial in these patients considering the limited pharmacological choice. However, psychosocial approach and an appropriate team to manage these patients are not still well defined. In this review, we critically discuss the diagnosis and the management of alcohol use disorder in patients with liver disease.

OBJECTIVE: Hepatitis E Virus (HEV) is probably the most common cause of acute hepatitis worldwide. It has been regarded for a long time as a disease limited to developing countries. Recently, the refinement of diagnostic techniques, on the one hand, and migratory flows, on the other hand, have also led to the identification of an increased number of HEV infections in industrialized countries. Four HEV genotypes have been identified across the world, with different epidemiological burdens and a wide range of clinical presentations. Here, we report a case series of acute HEV hepatitis observed in the last three years in our hospital. PATIENTS AND METHODS: We performed a search for HEV IgM and IgG in all subjects admitted for acute hepatitis without evidence of other possible infectious, toxic or metabolic causes of liver damage. In subjects with HEV IgM positivity, the search for HEV-RNA was performed. RESULTS: We diagnosed eight acute HEV infections: 2 epidemic and 6 sporadic forms. HEV-RNA was detected in serum in 2 cases. CONCLUSIONS: HEV infection appears to be a cause of acute hepatitis that we must keep in mind even in developed countries.

Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament. Results: Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants. Conclusions: Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.

OBJECTIVE: alcohol abuse represents a risk factor for oral diseases, in particular, oral cancer. Periodontal disease has been showed to be involved in the pathophysiology of cardiovascular and metabolic diseases, such as atherosclerosis and liver steatosis. The role of chronic alcohol consumption on periodontitis is still controversial. The aim of the study was to evaluate the effect of chronic alcohol abuse on oral health. PATIENTS AND METHODS: Twenty-three alcohol use disorders (AUD) patients and twenty-three healthy social drinkers underwent an oral examination by trained oral clinicians in order to evaluate oral and dental health. A questionnaire assessing oral hygiene was administered together with the evaluation of DMFT (decayed, missing, filled teeth), SLI (Silness-Loë plaque index) and CPI (community periodontal index of treatment needs) scores. RESULTS: Alcoholic patients showed significantly lower oral hygiene scores compared to controls. Alcoholic patients showed significantly poorer scores at DMFT, SLI and CPI tests. Moreover, among alcoholics, smokers showed a significantly poorer oral health than non-smokers. CONCLUSIONS: Chronic alcohol abuse increases the risk of dental and periodontal diseases. Smoking represents a significant co-factor. The practice of basic oral hygiene and the access to professional dental care should be encouraged among AUD patients in order to reduce oral diseases.