Inv(X)(p21.1;q22.1) in a man with mental retardation,short stature,general muscle wasting,and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene

We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification of a novel "Nuclear RNA export factor" (NXF) gene cluster on Xq22.1. Within this cluster, the NXF5 gene was interrupted with subsequent loss of gene expression. Hence, mutation analysis of the NXF5 and its neighboring homologue, the NXF2 gene was performed in 45 men with various forms of syndromic X-linked MR (XLMR) and in 70 patients with nonspecific XLMR. In the NXF5 gene four nucleotide changes: one intronic, two silent, and one missense (K23E), were identified. In the NXF2 gene two changes (one intronic and one silent) were found. Although none of these changes were causative mutations, we propose that NXF5 is a good candidate gene for this syndromic form of XLMR, given the suspected role of NXF proteins is within mRNA export/transport in neurons. Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended.     

A systematic review of single-session psychological interventions ('debriefing') following trauma

BACKGROUND: Single-session psychological interventions such as psychological debriefing have become widely used following traumatic events. The evidence for their effectiveness has been widely debated. This review aimed to consider the evidence for the effectiveness of one-off early interventions within 1 month of a traumatic event. METHODS: A systematic review using the standard Cochrane Collaboration methodology. Literature searches of various databases were performed to identify randomised controlled trials. The methodological quality of the studies identified was determined using standard measures, and the results were pooled to consider the overall evidence for effectiveness. RESULTS: Eleven randomised controlled trials were found, all of individual or couple interventions. Three studies associated the intervention with a positive outcome, 6 demonstrated no difference in outcome between intervention and non-intervention groups and 2 showed some negative outcomes in the intervention group (these studies had the longest follow-up periods). The methodological quality of the studies varied widely, but was generally poor. This review suggests that early optimism for brief early psychological interventions including debriefing was misplaced and that it should not be advocated for routine use. There remains an urgent need for randomised controlled trials of group debriefing and other early interventions.     

Washed microbiota transplantation stopped the deterioration of amyotrophic lateral sclerosis: The first case report and narrative review

Amyotrophic lateral sclerosis (ALS) is known as a progressive paralysis disorder characterized by degeneration of upper and lower motor neurons, and has an average survival time of three to five years. Growing evidence has suggested a bidirectional link between gut microbiota and neurodegeneration. Here we aimed to report one female case with ALS, who benefited from washed microbiota transplantation (WMT), an improved fecal microbiota transplantation (FMT), through a transendoscopic enteral tube during a 12-month follow-up. Notedly, the accidental scalp trauma the patient suffered later was treated with prescribed antibiotics that caused ALS deterioration. The subsequent rescue WMTs successfully stopped the progression of the disease with a quick improvement. The plateaus and reversals occurred during the whole course of WMT. The stool and blood samples from the first WMT to the last were collected for dynamic microbial and metabolomic analysis. We observed the microbial and metabolomic changing trend consistent with the disease status. This case report for the first time shows the direct clinical evidence on using WMT for treating ALS, indicating that WMT may be the novel treatment strategy for controlling this so-called incurable disease.     

Fear,Helplessness, and Horror in Posttraumatic Stress Disorder: Investigating DSM-IV Criterion A2 in Victims of Violent Crime

A DSM-IV diagnosis of posttraumatic stress disorder (PTSD) required for the first time that individuals must report experiencing intense fear, helplessness, or horror at the time of the trauma. In a longitudinal study of 138 victims of violent crime, we investigated whether reports of intense trauma-related emotions characterized individuals who, after 6 months, met criteria for PTSD according to the DSM-III-R. We found that intense levels of all 3 emotions strongly predicted later PTSD. However, a small number of those who later met DSM-III-R or ICD criteria for PTSD did not report intense emotions at the time of the trauma. They did, however, report high levels of either anger with others or shame.     

Birth defects after incestuous mating: Calculating the probability of causality and reflecting on the desirability of genetic testing

In this short communication we (1) show that, despite the rarity of autosomal recessive inheritance, primary congenital hydrocephalus in a girl stemming from father-daughter incest is most likely due to the incestuous union of her parents, and (2) reflect on the question, among others, whether actual genetic work-up to support victim indemnification is ever in the interest of the child.     

Carnitine in Alcohol Use Disorders: A Scoping Review

Recent studies in alcohol use disorders (AUDs) have demonstrated some connections between carnitine metabolism and the pathophysiology of the disease. In this scoping review, we aimed to collate and examine existing research available on carnitine metabolism and AUDs and develop hypotheses surrounding the role carnitine may play in AUD. A scoping review method was used to search electronic databases in September 2019. The database search terms used included “alcohol, alcoholism, alcohol abuse, alcohol consumption, alcohol drinking patterns, alcohol-induced disorders, alcoholic intoxication, alcohol-related disorders, binge drinking, Wernicke encephalopathy, acylcarnitine, acetyl-l-carnitine, acetylcarnitine, carnitine and palmitoylcarnitine.” The inclusion criteria included English language, human-based, AUD diagnosis and measured blood or tissue carnitine or used carnitine as a treatment. Of 586 studies that were identified and screened, 65 underwent abstract review, and 41 were fully reviewed. Eighteen studies were ultimately included for analysis. Data were summarized in an electronic data extraction form. We found that there is limited literature available. Alcohol use appears to impact carnitine metabolism, most clearly in the setting of alcoholic cirrhosis. Six studies found carnitine to be increased in AUD, of which 5 were conducted in patients with alcoholic cirrhosis. Only 3 placebo-controlled trials were identified and provide some support for the use of carnitine in AUD to decrease cravings, anhedonia, and withdrawal and improve cognition. The increase in plasma carnitine in alcoholic cirrhosis may be related to disordered fatty acid metabolism and oxidative stress that occurs in AUD. The multiple possible therapeutic effects carnitine could have on ethanol metabolism and the early evidence available for carnitine supplementation as a treatment for AUD provide a foundation for future randomized control trials of carnitine for treating AUD.