Multicenter Cohort Study to Evaluate the Relationship between Radiological Findings and Disability in Moderate and Severe Head Injury Patients.

This was a multicenter cohort study to evaluate the relationship between radiological findings and disability in moderate and severe head injury patients. The study places were the Neurosurgery department of Sylhet M A G Osmani Medical College Hospital, Sylhet Women's Medical College Hospital (SWMCH) and King Faisal Hospital (KFH), Taif, KSA. Sample size was 104 and the study period was 36 months (July 2021 to December 2022). On the basis of radiological findings the participants were divided into three arms. The different arms were diffused traumatic brain injury (arm-1), focal traumatic brain injury (arm-2) and both (diffused and traumatic) types traumatic brain injury (arm-3). Outcome was assessed by modified Rankin Score (mRS). Mean age was significantly higher in female. Overall mean age was 40.28 year. Highest number was in the below 20-year age group followed by the 41-50-year age group. Lowest number of participants was in the above 60-year group. Improved group was significantly higher than 'not improved' and the 'died' group (p<0.00001). Improved participants were significantly higher in the arm-1 and arm-2. Mortality was significantly higher (p<0.00001) in the arm-3 group.

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

PLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior. PLAGL1 over-expression causes transient neonatal diabetes mellitus (TNDM type 1) and, based on murine models, under-expression would be expected to cause growth restriction. However, only some reported individuals with upd(6)mat have growth restriction, giving rise to uncertainty about the role of PLAGL1 in human growth. Here we report three individuals investigated for growth restriction, two with upd(6)mat and one with a mosaic deletion of the paternally-inherited allele of PLAGL1. These cases add to evidence of its involvement in pre- and early post-natal human growth.

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

BACKGROUND: Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis is broad. Known molecular causes of SRS include imprinting disturbance, single nucleotide variant (SNV), CNV or UPD affecting several genes; however, up to 40% of individuals with a clinical diagnosis of SRS currently receive no positive molecular diagnosis. METHODS: To determine whether whole-genome sequencing (WGS) could uncover pathogenic variants missed by current molecular testing, we analysed data of 72 participants recruited to the 100,000 Genomes Project within the clinical category of SRS. RESULTS: In 20 participants (27% of the cohort) we identified genetic variants plausibly accounting for SRS. Coding SNVs were identified in genes including CDKN1C, IGF2, IGF1R and ORC1. Maternal-effect variants were found in mothers of five participants, including two participants with imprinting disturbance and one with multilocus imprinting disorder. Two regions of homozygosity were suggestive of UPD involving imprinted regions implicated in SRS and Temple syndrome, and three plausibly pathogenic CNVs were found, including a paternal deletion of PLAGL1. In 48 participants with no plausible pathogenic variant, unbiased analysis of SNVs detected a potential association with STX4. CONCLUSION: WGS analysis can detect UPD, CNV and SNV and is potentially a valuable addition to diagnosis of SRS and related growth-restricting disorders.

Lrig1 expression identifies airway basal cells with high proliferative capacity and restricts lung squamous cell carcinoma growth.

BACKGROUND: Lung squamous cell carcinoma (LUSC) accounts for a significant proportion of cancer deaths worldwide, and is preceded by the appearance of progressively disorganised pre-invasive lesions in the airway epithelium. Yet the biological mechanisms underlying progression of pre-invasive lesions into invasive LUSC are not fully understood. LRIG1 (leucine-rich repeats and immunoglobulin-like domains 1) is downregulated in pre-invasive airway lesions and invasive LUSC tumours and this correlates with decreased lung cancer patient survival. METHODS AND RESULTS: Using an Lrig1 knock-in reporter mouse and human airway epithelial cells collected at bronchoscopy, we show that during homeostasis LRIG1 is heterogeneously expressed in the airway epithelium. In basal airway epithelial cells, the suspected cell of origin of LUSC, LRIG1 identifies a subpopulation of progenitor cells with higher in vitro proliferative and self-renewal potential in both the mouse and human. Using the N-nitroso-tris-chloroethylurea (NTCU)-induced murine model of LUSC, we find that Lrig1 loss-of-function leads to abnormally high cell proliferation during the earliest stages of pre-invasive disease and to the formation of significantly larger invasive tumours, suggesting accelerated disease progression. CONCLUSION: Together, our findings identify LRIG1 as a marker of basal airway progenitor cells with high proliferative potential and as a regulator of pre-invasive lung cancer progression. This work highlights the clinical relevance of LRIG1 and the potential of the NTCU-induced LUSC model for functional assessment of candidate tumour suppressors and oncogenes.

Scleral-fixated intraocular lens implants-evolution of surgical techniques and future developments.

Varied options are available for the implantation of secondary intraocular lens implants in the absence of zonular or capsular support. Loss of the capsule can occur in the context of complicated cataract surgery, trauma or inherited conditions such as Marfan syndrome or pseudoexfoliation. Approaches to overcome this include optical measures such as the use of spectacles or contact lenses, and surgical therapy incorporating the use of anterior chamber, iris-fixated or scleral-fixated lenses. Surgical techniques to implant scleral-fixated lenses have undergone various modifications, since the first publication of sutured intrascleral fixation described in the 1980s. However, despite the advances in surgical techniques, studies are limited either by their retrospective nature, small sample size and most importantly small duration of follow-up. This comprehensive review aims to amalgamate the evolution of various surgical techniques with regards to intrascleral lens fixation and suggests areas for future development.

The absence of (TCAGGG)n repeats in some telomeres, combined with variable responses to NR2F2 depletion, suggest that this nuclear receptor plays an indirect role in the alternative lengthening of telomeres.

The alternative lengthening of telomeres (ALT) facilitates telomere lengthening by a DNA strand invasion and copying mechanism. The nuclear receptors (NRs), NR2F2 and NR2C2, can bind to (TCAGGG)n variant repeats within telomeres and it has been proposed that this facilitates telomere interactions in ALT+ cells. Here we show that the frequency of cells with detectable NR2F2 and NR2C2 nuclear foci varies considerably between ALT+ cell lines and does not correlate with the level of protein expression. In addition, four of five ALT+ cell lines lack (TCAGGG)n repeats in some telomeres, indicating that direct NR binding does not play a role in ALT at these telomeres. NR2F2-depletion altered the abundance of C-circles and APBs but the direction of the response was inconsistent between three ALT+ cell lines. Moreover, transcriptome analysis following NR2F2-depletion in the ALT+ cell lines revealed different very responses. For example, NR2F2-depletion down-regulated many genes in U2OS cells, consistent with the cell cycle arrest and changes to ALT markers, but these features were not shared by the other two ALT+ cell lines. Among 86 ALT-associated genes, only MND1 showed consistent down-regulation across three NR2F2-depleted ALT+ cell lines. Altogether our data suggest that NR2F2 does not play a direct role in ALT and we speculate about an alternative role for this NR in a DNA damage response at telomeres.

Effect of Resin-modified Glass Ionomer Cement Dispensing/Mixing Methods on Mechanical Properties.

STATEMENT OF THE PROBLEM: Resin-modified glass ionomer cements (RMGIs) are often used for luting indirect restorations. Hand-mixing traditional cements demands significant time and may be technique sensitive. Efforts have been made by manufacturers to introduce the same cement using different dispensing/mixing methods. It is not known what effects these changes may have on the mechanical properties of the dental cement. PURPOSE: The purpose of this study was to evaluate the mechanical properties (diametral tensile strength [DTS], compressive strength [CS], and fracture toughness [FT]) of RMGIs with different dispensing/mixing systems. METHODS AND MATERIALS: The RMGI specimens (n=14)-RelyX Luting (hand mix), RelyX Luting Plus (clicker-hand mix), RelyX Luting Plus (automix) (3M ESPE), GC Fuji PLUS (capsule-automix), and GC FujiCEM 2 (automix) (GC)-were prepared for each mechanical test and examined after thermocycling (n=7/subgroup) for 20,000 cycles to the following: DTS, CS (ISO 9917-1) and FT (ISO standard 6872; Single-edge V-notched beam method). Specimens were mounted and loaded with a universal testing machine until failure occurred. Two-/one-way analysis of variance followed by Tukey honestly significantly different post hoc test was used to analyze data for statistical significance ( p<0.05). RESULTS: The interaction effect of both dispensing/mixing method and thermocycling was significant only for the CS test of the GC group ( p<0.05). The different dispensing/mixing methods had no effect on the DTS of the tested cements. The CS of GC Fuji PLUS was significantly higher than that of the automix version ( p<0.05). The FT decreased significantly when switching from RelyX (hand mix) to RelyX Luting Plus (clicker-hand mix) and to RelyX Luting Plus (automix) ( p<0.05). Except in the case of the DTS of the GC group and the CS of GC Fuji PLUS, thermocycling had a significant effect reducing the mechanical properties of the RMGI cements ( p<0.05). CONCLUSIONS: Introducing alternative dispensing/mixing methods for mixing RMGIs to reduce time and technique sensitivity may affect mechanical properties and is brand dependent.

Recognition of psychogenic nonepileptic seizures diminishes acute care utilization.

Patients with psychogenic nonepileptic seizures (PNES) frequently use acute health care resources including emergency departments (EDs), resulting in redundant efforts. We asked whether establishing the diagnosis of PNES via video/EEG telemetry reduces subsequent ED use. Twenty-three patients with PNES were studied over a 48-month period surrounding the diagnosis using a provincewide database. There was a 39% reduction in total ED visits and a 51% reduction in ED visits for neurological causes during the 24 months following the diagnosis, and decreased ED use persisted throughout the follow-up period. There was no significant change in ED utilization for psychiatric causes. The proportion of patients with PNES who used ED services once or not at all per year increased from 26% in the 2 years prior to the diagnosis to 57% following the diagnosis. These findings suggest that a definitive, telemetry-based diagnosis relieves diagnostic uncertainties for the patient and physician, but also has quantifiable economic benefits.

[HBsAg quantification: virological significance]. / Quantification de l'antigène HBs: signification virologique.

HBsAg is a classic marker of hepatitis B virus infection. Since the levels of serum HBsAg are correlated to those of intrahepatic cccDNA, HBsAg quantification indirectly reflects the number of infected hepatocytes. The kinetics of serum HBsAg decline seems to be a predictive marker for sustained virological response, and clearance of HBsAg. This new tool may be clinically relevant for the monitoring and optimization of hepatitis B treatments. To fulfill this objective, prospective studies are still warranted for the the spread of sensitive and standardized techniques standardization of the quantification assays and to define cut off values with clinical predictive values.

Anaes practice guidelines for vaccination against hepatitis B virus: impact on general practitioners.

INTRODUCTION: In September 2003, Agency for Accreditation and Evaluation in Health (ANAES) published its consensus recommendations for vaccination practices against hepatitis B virus (HBV), one objective of which was to decrease the risk of HBV transmission to those in the environments of patients who are carriers of the HBs antigen. The aim of our survey was to measure the awareness and application of these recommendations among general practitioners (GPs) in the Loiret region. PATIENTS AND METHODS: This retrospective survey analysed the decisions, using a semi-directed interview, made by all consenting GPs who, in 2004, had referred newly diagnosed HBs antigen-positive patients to the liver unit of the hospital of Orleans. RESULTS: Of the contacted GPs, 83% agreed to participate. Although only one-third of them were familiar with the recommendations, all identified the sexual partners and people living under the same roof as the patient targets for screening and/or vaccination. Also, 75% of the GPs had a consultation with some or all of the identified at-risk individuals in their patient's environment, but only 58% succeeded in vaccinating these at-risk people. Among the interviewed GPs, 71% were in favour of mass vaccination practices against HBV and all were in favour of vaccination targeting the at-risk individuals. CONCLUSION: Dissemination of the ANAES recommendations needs to be improved, even though the majority of the GPs included in the present study were in favour of mass vaccination against HBV and all were in favour of vaccination of at-risk individuals. However, one-third of the identified at-risk individuals eluded screening and/or vaccination, indicating the need for a specific organized program to make contact with these prone populations.

Selective amygdalohippocampectomy: surgical outcome in children versus adults.

INTRODUCTION: The objective of the study was to review our experience with selective amygdalohippocampectomy (SAH) in children and adults with intractable temporal lobe epilepsy. METHODS: A retrospective case series was used in the setting of a tertiary care hospital which provides epilepsy care to both children and adults. All patients underwent a selective amygdalohippocampectomy procedure and had at least one year of follow-up. Adults and children were divided into two groups and the data was compared between children and adults. RESULTS: Twenty three patients, 9 children and 14 adults were studied. Age of surgery varied from 6 to 58 years. Surgical outcome was variable between the two groups. Amongst the children, three patients (33%) were seizure-free (Engel Class I), two patients (22%) had rare seizures (Engel Class II), one patient (11%) had a worthwhile decrease in seizures (Engel class III) and three patients (32%) had refractory seizures that required re-operation with an anterior temporal lobectomy. This differed from the adults, who all had a good outcome. Ten patients (71%) were seizure-free (Engel Class I) and the remainder (29%) had rare seizures (Engel Class II). CONCLUSION: Selective amygdalohippocampectomy can lead to excellent seizure surgical outcome in adults with refractory temporal lobe epilepsy. However, preliminary results show less favorable results in children. The difference is probably related to the different pathology between the two groups. Anterior temporal lobe resection may prove to be a more successful operation than SAH in children with intractable temporal lobe epilepsy.

Sanitizing effect of salts on experimentally inoculated organisms on pork carcasses.

Pork forequarters procured from freshly slaughtered animals were decontaminated with hot water and inoculated with Staphylococcus aureus, Escherichia coli, Salmonella typhimurium, Yersinia enterocolitica, Listeria monocytogenes, Serratia marcescens, Pseudomonas aeruginosa and Proteusvulgaris. The forequarters were individually spray washed with 5% potassium sorbate and a combination of 5% sodium chloride and 2.5% each of sodium acetate, sodium citrate, sodium lactate and potassium sorbate solutions. The total viable count (TVC) of the treated meat samples was reduced by 0.96 and 1.31 log units by spraying with salt and salt combination respectively with marginal changes in colour and odour scores. Inoculated organisms were found to be highly sensitive to salt combination treatment as compared to potassium sorbate alone. Shelf-life of salt and salt combination treated samples was increased to 8 and 11days as against 4days in untreated samples. Carcass washing with salt and salt combination was found to be suitable for extension of shelf-life and improvement in the sensory and microbiological quality of meat.

Independent measurement of the total active 8B solar neutrino flux using an array of 3He proportional counters at the Sudbury Neutrino Observatory.

The Sudbury Neutrino Observatory (SNO) used an array of 3He proportional counters to measure the rate of neutral-current interactions in heavy water and precisely determined the total active (nu_x) 8B solar neutrino flux. This technique is independent of previous methods employed by SNO. The total flux is found to be 5.54_-0.31;+0.33(stat)-0.34+0.36(syst)x10(6) cm(-2) s(-1), in agreement with previous measurements and standard solar models. A global analysis of solar and reactor neutrino results yields Deltam2=7.59_-0.21;+0.19x10(-5) eV2 and theta=34.4_-1.2;+1.3 degrees. The uncertainty on the mixing angle has been reduced from SNO's previous results.

[Exocrin pancreatic deficiency revealing an alpha-1-antitrypsin deficiency]. / Insuffisance pancréatique exocrine révélant un déficit en alpha-1-antitrypsine.

There are genetic mutations taking part in the physiopathology of pancreatitis. The role of alpha-1-antitrypsin (AAT) deficiency in this pathology is debated. We report the case of a 60-year-old man with a pancreatic exocrine insufficiency. He was diagnosed with AAT deficiency. The phenotype was Pi SZ, with genotyping confirmation. The place of AAT deficiency in the midst of pancreatic diseases should be further studied.

Epidemiology of chronic hepatitis B infection in France: risk factors for significant fibrosis--results of a nationwide survey.

BACKGROUND: Epidemiological data concerning hepatitis B are scarce in France. AIM: To describe epidemiological, clinical, virological and histological features of HBsAg-positive patients followed at non-academic hospitals in France. METHODS: Clinical, biological, virological and histological data of all HBsAg-positive consecutive patients observed from April 1, 2001 to May 31, 2002 in participating centres were recorded prospectively. Multivariate analyses of factors associated with significant fibrosis and cirrhosis were performed. RESULTS: Nearly 1166 HBsAg-positive patients were seen in the 58 centres: 671 males and 495 females from metropolitan France (32%) and from outside metropolitan France (68%); mean age 41 +/- 15 years. Twenty-nine percent of patients were probable HBsAg inactive carriers, while 50% had chronic hepatitis; 43% of these were HBeAg-positive and 57% HBeAg-negative. Liver biopsy had been performed in 558 (51%) patients; 205 (17.6%) patients had cirrhosis. By multivariate analysis, factors associated with significant fibrosis were: age >40 years (P < 0.05), HBeAg-negative status (P < 0.02) and histological activity (P < 0.0001). Factors associated with cirrhosis: age (P < 0.0001), platelet count <150 000/mm(3) (P < 0.0001) and viral co-infection (P < 0.03). CONCLUSION: HBV infection represents a significant workload for hepatogastroenterologists at non-academic hospitals in France.

Measurement of dijet azimuthal decorrelations at central rapidities in pp collisions at sqrt s =1.96 TeV.

Correlations in the azimuthal angle between the two largest transverse momentum jets have been measured using the D0 detector in p (-)p collisions at a center-of-mass energy sqrt[s]=1.96 TeV. The analysis is based on an inclusive dijet event sample in the central rapidity region corresponding to an integrated luminosity of 150 pb(-1). Azimuthal correlations are stronger at larger transverse momenta. These are well described in perturbative QCD at next-to-leading order in the strong coupling constant, except at large azimuthal differences where contributions with low transverse momentum are significant.

Search for supersymmetry with gauge-mediated breaking in diphoton events at D0.

We report the results of a search for supersymmetry (SUSY) with gauge-mediated breaking in the missing transverse energy distribution of inclusive diphoton events using 263 pb(-1) of data collected by the D0 experiment at the Fermilab Tevatron Collider in 2002-2004. No excess is observed above the background expected from standard model processes, and lower limits on the masses of the lightest neutralino and chargino of about 108 and 195 GeV, respectively, are set at the 95% confidence level. These are the most stringent limits to date for models with gauge-mediated SUSY breaking with a short-lived neutralino as the next-to-lightest SUSY particle.