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| 1 | The neurodevelopmental spectrum seen with CHD2 variants显示文摘There are many self evident truths when it comes to genetic testing in epilepsies:classifying epilepsy and idenifying the co-morbidities helps you pick the right panel;sending the test increases your chance of making that diagnosis;increased panel testing broadens the phenotype.The series of children with chromodomain helicase DNA-binding protein 2(CHD2)variants reported by Feng et al.1 are notable for a number of important reasons,including confirmation of another CHD2 family. | Alice G Willison Rhys H Thomas | 2022 | Pediatric Investigation2022，6，2： | 1 |
| 2 | Does music reduce anxiety and discomfort during flexible sigmoidoscopy?A systematic review and meta-analysis显示文摘AIM To investigate the role of music in reducing anxiety and discomfort during flexible sigmoidoscopy. METHODS A systematic review of all comparative studies up to November 2016, without language restriction that were identified from MEDLINE and the Cochrane Controlled Trials Register(1960-2016), and EMBASE(1991-2016). Further searches were performed using the bibliographies of articles and abstracts from major conferences such as the ESCP, NCRI, ASGBI and ASCRS. Me SH and text word terms used included 'sigmoidoscopy', 'music' and 'endoscopy' and 'anxiety'. All comparative studies reporting on the effect of music on anxiety or pain during flexible sigmoidoscopy, in adults, were included. Outcome data was extracted by 2 authors independently using outcome measures defined a priori. Quality assessment was performed.RESULTS A total of 4 articles published between 1994 and 2010, fulfilled the selection criteria. Data were extracted and analysed using OpenM etaA nalyst. Patients who listened to music during their flexible sigmoidoscopy had less anxiety compared to control groups [Random effects; SMD: 0.851(0.467, 1.235), S.E = 0.196, P < 0.001]. There was no statistically significant heterogeneity(Q = 0.085, df = 1, P = 0.77, I2 = 0). Patients who listened to music during their flexible sigmoidoscopy had less pain compared to those who did not, but this difference did not reach statistical significance [Randomeffects; SMD: 0.345(-0.014, 0.705), S.E = 0.183, P = 0.06]. Patients who listened to music during their flexible sigmoidoscopy felt it was a useful intervention, compared to those who did not(P < 0.001). There was no statistically significant heterogeneity(P = 0.528, I2 = 0). CONCLUSION Music appeared to benefit patients undergoing flexible sigmoidoscopies in relation to anxiety and was deemed a helpful intervention. Pain may also be reduced however further investigation is required to ascertain this. | Arun P Shanmuganandan Muhammad R Sameem Siddiqui Nicholas Farkas Kiran Sran Rhys Thomas Said Mohamed Robert I Swift Al Mutaz Abulafi | 2017 | World Journal of Gastrointestinal Endoscopy2017，9，5： | 1 |
| 3 | Crohn’s strictures open with anti-mycobacterial antibiotic therapy:A retrospective review显示文摘BACKGROUND Medical therapy for strictures is limited and first-line treatment consists of endoscopic balloon dilatation,strictureplasty or surgical resection.Mycobacterium tuberculosis,Helicobacter pylori and Streptococcus can all cause stenosis,for which antibiotic treatment achieves stricture resolution.Mycobacterium avium ssp.paratuberculosis is a suspected causative agent in Crohn’s disease(CD).Thus,specialized antimicrobial treatment,in particular,anti-mycobacterial antibiotic therapy(AMAT)has been proposed as a potential treatment option.To our knowledge,the opening of CD strictures has not been recorded using any form of antibiotic therapy.We hypothesized that AMAT would resolve strictures in patients with CD.AIM To investigate the effect and outcomes of AMAT in a cohort of CD patients with an ileal stricture.METHODS A single center,retrospective,medical record case review was conducted on an observational cohort of patients with CD who had an ileal stricture on colonoscopy and were treated with AMAT.Forty patients meeting the inclusion criteria were identified from the internal medical database.Thirty(75%)patients had follow-up colonoscopy and clinical data available.The AMAT regimen was prescribed after the initial colonoscopy for a duration of at least six months until follow-up colonoscopy with the attending gastroenterologist.Patient demographics,symptoms,colonoscopy reports,inflammatory serum markers and concurrent medications were recorded at pre-treatment and follow-up between January 1995 and June 2018.RESULTS Of the patients that returned for follow-up after>24 mo of AMAT,twenty(67%)had complete resolution(CR)of their ileal strictures,three(10%)had partial resolution and seven(23%)had no resolution.Irrespective of stricture outcome,21 patients(70%)demonstrated clinical response to AMAT and there was a statistically significant reduction in inflammatory serum markers C-reactive protein(P<0.0001)and erythrocyte sedimentation rate(P=0.04)from pretreatment to follow-up.It was observed that 11(37%)patients experienced side effects,but no serious adverse effects were attributable to AMAT.At follow-up there were 26(87%)patients on concomitant medication for CD and a statistically significant association between CR and AMAT with a concomitant immunomodulator(P=0.02).CONCLUSION This study demonstrated a high rate of stricture resolution(67%)similar to that seen in tuberculosis strictures(70%),suggesting a shared mycobacterial origin of strictures,and perhaps disease. | Rhys Collyer Annabel Clancy Gaurav Agrawal Thomas J Borody | 2020 | World Journal of Gastrointestinal Endoscopy2020，12，12： | 0 |
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