Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations

Retinoblastoma is the most common primary intraocular malignancy in children, caused by inactivation of the RB1 gene on chromosome 13. We carried out a mutational screen of the exons and promoter of the RB1 gene in Indian patients with retinoblastoma in order to determine the range of mutations giving rise to disease. Forty-seven patients were screened for mutations in all exons and promoter of the RB1 gene by single strand conformation polymorphism followed by sequencing. Tumors were available from 27 patients (12 bilateral and 15 unilateral retinoblastoma) while only peripheral blood was available from 20 patients, all with bilateral disease. Mutations were found in 22 patients, 9 from the analysis of tumors and 13 from peripheral blood. Eight novel mutations were identified, including 4 single base changes, 2 small deletions and 1 duplication. These are g.64365T>G (Tyr325Ter), g.78131G>A (Trp515Ter), g.150061G>T (Glu587Ter), g.170383C>G (S834X), g.41924A>C (IVS3-2A>C), g.150064ins4, g.160792del22, and g.76940del14 (IVS15 del +20-33). Almost all mutations produced nonsense codons or frameshifts. Recurrent mutations, especially at CpG sites were seen predominantly. Detectable mutations in exons were found in 46% of patients tested. Large deletions, epigenetic changes as well as mutations in non-coding regions may be the cause of disease in the remainder of patients. Knowledge of the full range of mutations can aid in the design of screening tests for individuals at risk.     

Overactive bladder and caffeine: comparing women with and without mental health diagnoses

Caffeine is a stimulant thought to activate the pleasure centre in the brain, commonly used in the general public for purposeful attempt to alter mood, and also commonly perceived to be a bladder irritant with associated urgency and frequency symptoms. Mental health diagnosis, such as depression, is also associated with overactive bladder. Taken together, it is plausible that women with overactive bladder symptoms along with comorbid mental health symptoms may also show higher caffeine intake but no data exist. This pilot study's purpose was to determine in women with overactive bladder, if those with a mental health diagnosis (we included anxiety, depression, post-traumatic stress disorder and bipolar diagnosis) consume a significantly higher amount of caffeine than those without any of these diagnoses. Secondary analysis was performed on data from women with overactive bladder recruited into a longitudinal parent study on beverage management. All parent study participants met criteria of urgency and voiding more than seven times per day. Each kept a detailed 3-day diary of beverage intake. From the total parent study pool of 61, we identified 14 women with a comorbid mental health diagnosis as described above and 47 without when interviewed at baseline. Women with mental health diagnosis demonstrated higher median baseline caffeine intake per day than their counterparts without mental health diagnosis: 240·2 mg (range: 72·3–576·0 mg) versus 174·3 mg (range: 0–567·6 mg), which was marginally significant ( p = · 053). Volume of caffeinated beverage intake did not differ significantly. In women with overactive bladder and comorbid mental health symptoms, higher caffeine intake may be a previously unrecognized link. Cause and effect is unknown between the three conditions of overactive bladder, mental health disorders and higher caffeine intake; but this initial data support the need for further research.     

Mesenteric inflammatory veno-occlusive disorder: a rare entity mimicking inflammatory bowel disorder

Mesenteric inflammatory veno-occlusive disorder (MIVOD) is a rare variety of inflammatory bowel disease. In addition to the case presentation, pathogenesis, and conflicting clinical, endoscopic, and computed tomography findings, we present for the first time the angiographic findings that would provide important clues to distinguish MIVOD from the chronic idiopathic variety of inflammatory bowel disease and confirm the diagnosis of MIVOD. Final diagnosis is made on full-thickness biopsy. Although medical treatment of MIVOD is unsuccessful, surgical resection of the involved segment results in resolution of symptoms.     

Adherence of Randomized Controlled Trials to Consolidated Standards of Reporting Trials 2010 Guidelines: A Survey of Randomized Controlled Trials Published in 2011-2016 in 3 Periodontology Journals

ObjectiveTo assess the quality of reporting of randomized controlled trials (RCTs) in the Journal of Clinical Periodontology (JCP), Journal of Periodontology (JOP), and Journal of Periodontal Research (JPR), published in the years 2011 until 2016, using Consolidated Standards of Reporting Trials (CONSORT) 2010 guidelines.MethodsA thorough search of PubMed for RCTs published between January 2011 and December 2016 in the three journals was carried out. The CONSORT 2010 checklist (36 questions) was used to evaluate the adherence of these RCTs to these guidelines. A modified CONSORT score was calculated and categorized as “perfect” (100%), “excellent” (80%-99%), “good” (60%-79%), “modest” (40%-59%), and “poor” (<40%).ResultsA total of 369 RCTs were published in the three periodontology journals from 2011 until 2016. Based on the modified CONSORT score among all the RCTs, title, abstract, and introduction sections of the included RCTs showed good adherence to the CONSORT 2010 guidelines (60%-79%), whereas the adherence was poor for half the items in methodology (<40%), results (<40%), and discussion (40%). The highest modified CONSORT score was obtained for the trials published in the JCP from 2011 to 2016, whereas the lowest score was achieved by the RCTs in the JPR. Overall, none of the RCTs in any of the journals were perfect in reporting the trials as per the guidelines. Almost half of the RCTs in the JCP showed good adherence (51.1%), whereas almost three-fourths of the RCTs in the JOP (72%) and JPR (82.7%) showed modest to poor adherence as per the reporting guidelines (P < .001).ConclusionAmong the three periodontology journals assessed, the JCP showed better adherence than the JOP and JPR from 2011 until 2016.