Miracle-dz/UniFAR-FTUs huggingface dataset:
Segmental colitis associated with diverticula: a prospective study

OBJECTIVE:Little is known about the clinical features and natural history of segmental colitis associated with diverticula. Our aim was to evaluate the incidence of segmental colitis associated with diverticula in patients undergoing colonoscopy, its clinical picture, and its outcome.METHODS:This was a multicenter, prospective study. Patients with inflammatory bowel disease (IBD)-like lesions limited to colonic segments with diverticula were enrolled. Patients were treated with oral and topical 5-aminosalicylic (5-ASA) until remission was achieved; clinical and endoscopic follow-up was planned at 6 wk and 12 months.RESULTS:A total of 5457 consecutive colonoscopies were recorded at five participating institutions; 20 patients (0.36%) met the endoscopic criteria for segmental colitis associated with diverticula. All had lesions in the left colon, and one also had lesions in the right colon. In six cases, a specific diagnosis was made thereafter. The remaining 14 patients (0.25% of colonoscopies; eight men; age range, 49–80 yr) were in clinical and endoscopic remission at the first follow-up visit. At onset, 13/14 had hematochezia, seven had diarrhea, and five had abdominal pain; only one had weight loss. No subject had fever. In all but one case, blood chemistries were normal. Five patients had had similar symptoms previously. Thirteen of 14 patients were in clinical and endoscopic remission at 12 months.CONCLUSIONS:This endoscopic picture is not an exceptional finding. Hematochezia was the main clinical feature, and no relation with gender, age, or smoking habit was found. Blood chemistries were generally normal and the rectum was spared. The histological features were not diagnostic and most patients did not complain of any abdominal symptoms 12 months after enrolment.
A Comparison of Outcome of Surgical Treatment of Migraine Headaches Using a Constellation of Symptoms versus Botulinum Toxin Type A to Identify the Trigger Sites

Background: This study was designed to assess whether preoperative trigger-site confirmation using botulinum toxin type A injections significantly improved migraine surgery outcomes. Methods: The medical charts of 335 migraine surgery patients were reviewed. Patients who received stepwise diagnostic botulinum toxin type A injections were placed in the botulinum toxin type A group (n = 245). Patients who did not receive botulinum toxin type A or received only therapeutic botulinum toxin type A were placed in the control group (n = 90). The preoperative and 12-month postoperative migraine headache frequency, duration, and intensity were compared to determine the success of the operations. Results: Seventy-two of 90 control patients (80 percent) experienced a significant improvement (a decrease of at least 50 percent in migraine headache frequency, duration, or intensity) at 12 months after surgery, with 29 (32 percent) reporting complete elimination. Of the 245 botulinum toxin type A patients, 207 (84 percent) experienced a significant improvement, with 89 (36 percent) experiencing complete elimination. The surgical success rate of the botulinum toxin type A group was not significantly higher than that of the control group (p = 0.33). Conclusions: Confirmation of trigger sites using botulinum toxin type A does not significantly improve the outcome of migraine surgery. Although botulinum toxin type A can be a useful diagnostic tool, this study demonstrates that there is no statistically significant difference between the injection of botulinum toxin type A and the use of a constellation of symptoms to identify trigger sites. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.
RNA-mediated epigenetic regulation of DNA copy number

Increasing evidence suggests that parentally supplied RNA plays crucial roles during eukaryotic development. This epigenetic contribution may regulate gene expression from the earliest stages. Although present in a variety of eukaryotes, maternally inherited characters are especially prominent in ciliated protozoa, in which parental noncoding RNA molecules instruct whole-genome reorganization. This includes removal of nearly all noncoding DNA and sorting the remaining fragments, producing extremely gene-rich somatic genomes. Chromosome fragmentation and extensive replication produce variable DNA copy numbers in the somatic genome. Understanding the forces that drive and regulate copy number change is fundamental. We show that RNA molecules present in parental cells during sexual reproduction can regulate chromosome copy number in the developing nucleus of the ciliate Oxytricha. Experimentally induced changes in RNA abundance can both increase and decrease the levels of corresponding DNA molecules in progeny, demonstrating epigenetic inheritance of chromosome copy number. These results suggest that maternal RNA, in addition to controlling gene expression or DNA processing, can also program DNA amplification levels.
Causes of severe visual impairment and blindness in schools for visually handicapped children in Iran

Aims: This survey was conducted on children in schools for the blind in Tehran (from 2002 to 2003) to determine the causes of severe visual impairment and blindness and to identify preventable and treatable conditions. Methods: The study was performed on 362 students at different grades in three schools for the blind. Patient sex, age, family history of blindness or low vision, visual acuity, causes of blindness, and treatable and preventable conditions were studied. Results: Of the 362 cases, 210 (58%) were boys and 152 (42%) were girls. Mean age was 13.5 (SD 4) years. Severe visual loss was seen in 80.9%. Retinal diseases were the most common cause for low vision (51%); cataract, optic nerve atrophy, corneal and anterior segment diseases, glaucoma, anophthalmia, and globe malformations were other major causes of blindness. Treatable aetiologies and positive family history of blindness were seen in 25.7% and 36% of the patients, respectively. The incidence of preventable diseases, excluding familial disorders, was low. Conclusion: In addition to the prevention and treatment of some conditions, premarital genetic counselling and family planning control in families with inherited diseases could decrease the number of blind children in the future in Iran.
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment. Usher syndrome type 1 (USH1), with additional vestibular dysfunction, represents the most severe form and shows extensive allelic and non‐allelic heterogeneity. At least six USH1 loci exist (USH1A‐F), and four of the underlying genes have been identified. Recently, a novel gene, cadherin 23 (CDH23), was shown to be mutated in USH1D. We performed mutation screening by single strand conformation polymorphism (SSCP) analysis and direct sequencing on 33 USH1 patients previously excluded for USH1B and USH1C. On eight disease alleles of four patients, four different mutations were identified, three of them novel (c.6933delT, c.5712G→A, and IVS45‐9G→A). Exon trapping experiments were performed with two mutations. In the case of a c.5712G→A transition of the last base of exon 42, that is an apparently synonymous mutation, skipping of exon 42 was observed. By the mutation IVS45‐9G→A, a novel splice acceptor site was created and the insertion of 7 intronic bp was observed. Two mutations, IVS45‐9G→A and the previously described IVS51+5G→A, were each found in more than one patient. Haplotype analysis by SNPs within CDH23 suggests common ancestors for each of the mutations. Among the total of 52 USH1 cases studied by us, CDH23 mutations account for about 10% of all disease alleles. Our results further suggest that in patients with a typical USH1D phenotype, a significant portion of CDH23 mutations leads to premature termination of translation or loss of numerous amino acid residues, with a high frequency of changes causing aberrant splicing of CDH23 mRNA. Hum Mutat 19:268–273, 2002. © 2002 Wiley‐Liss, Inc.
Effects of Mindfulness Based Stress Reduction Therapy on Subjective Bother and Neural Connectivity in Chronic Tinnitus

Objective To evaluate the impact of a Mindfulness Based Stress Reduction (MBSR) program in patients with chronic bothersome tinnitus on the (1) severity of symptoms of tinnitus and (2) functional connectivity in neural attention networks. Study Design Open-label interventional pilot study. Setting Outpatient academic medical center. Subjects A total of 13 adult participants with a median age of 55 years, suffering from bothersome tinnitus. Methods An 8-week MBSR program was conducted by a trained MBSR instructor. The primary outcome measure was the difference in patient-reported tinnitus symptoms using the Tinnitus Handicap Index (THI) and Tinnitus Functional Index (TFI) between pre-intervention, post-MBSR, and 4-week post-MBSR assessments. Secondary outcomes included change in measurements of depression, anxiety, mindfulness, and cognitive abilities. Functional connectivity magnetic resonance imaging (MRI) was performed at pre- and post-MBSR intervention time points to serve as a neuroimaging biomarker of critical cortical networks. Results Scores on the THI and TFI showed statistically significant and clinically meaningful improvement over the course of the study with a median ΔTHI of −16 and median ΔTFI of −14.8 between baseline and 4-week follow-up scores. Except for depression, there was no significant change in any of the secondary outcome measures. Analysis of the resting state functional connectivity MRI (rs-fcMRI) data showed increased connectivity in the post-MBSR group in attention networks but not the default network. Conclusion Participation in an MBSR program is associated with decreased severity in tinnitus symptoms and depression and connectivity changes in neural attention networks. MBSR is a promising treatment option for chronic bothersome tinnitus that is both noninvasive and inexpensive.
The Effect of Fibular Malreduction on Contact Pressures in an Ankle Fracture Malunion Model*

Nine fresh-frozen cadaveric specimens were disarticulated through the knee, and the soft tissues, except for the interosseous ligaments and interosseous membrane, were removed to the level of the ankle. The subtalar joint was secured with screws in neutral position (approximately 5 degrees of valgus). Contact pressures in the tibiotalar joint were measured with use of low-grade pressure-sensitive film, which was placed through an anterior capsulotomy. For each measurement, 700 newtons of load was applied to the specimen for one minute. The film imprints were scanned, and the contact pressures were quantitated in nine equal quadrants over the talar dome. A fracture-displacement device was secured to the distal end of the fibula; the device allowed for individual or combined displacements consisting of shortening, lateral shift, and external rotation of the fibula. The ankle was maintained in neutral flexion. The ligamentous injury associated with a pronation-lateral rotation fracture of the ankle was simulated by dividing the deep fibers of the deltoid ligament, the anterior-inferior tibiofibular ligament, and the interosseous membrane to a point that was an average of fifty-three millimeters proximal to the ankle joint. Baseline contact area and contact pressure in the joint were determined, followed by measurements after two, four, and six millimeters of shortening of the fibula; after two, four, and six millimeters of lateral shift of the fibula; and after 5, 10, and 15 degrees of external rotation of the fibula. The three types of displacement were tested individually as well as in combination. The simulated deformities were found to cause a shift of the contact pressure to the mid-lateral and posterolateral quadrants of the talar dome, with pressures as high as 4.1 megapascals. A corresponding decrease in the contact pressures was noted in the medial quadrants of the talar dome. The highest pressures were recorded for maximum shortening of the fibula, the combination of maximum shortening and lateral shift, the combination of maximum shortening and external rotation, and the combination of maximum shortening, lateral shift, and external rotation. In general, increases in each displacement variable corresponded to increasing contact pressures. CLINICAL RELEVANCE: Previous biomechanical studies have demonstrated mixed results regarding the effect of lateral displacement of the talus on contact pressures in the ankle joint. We believe that we are the first to evaluate the individual and combined effects of shortening, lateral displacement, and malrotation of the fibula while load was applied through the tibial plateau—that is, while the tibia and fibula were loaded in a more physiological manner than accomplished previously. The findings of the present study confirm that substantial displacement of the fibula (two millimeters or more of shortening or lateral shift or 5 degrees or more of external rotation) increases the contact pressures in the ankle joint. Therefore, displacement of the fibula in these injuries should not be accepted.
Effects of target concentration infusion of propofol and tracheal intubation on QTc interval *

This study was designed to evaluate the effect of target controlled infusion of propofol on QTc interval and tracheal intubation. Twenty‐five unpremedicated, ASA class I or II patients were selected and target concentration infusion of propofol at 5 μg. ml−1 was used throughout the study. The QTc interval was measured before anaesthetic induction (baseline, T1), 10 min after propofol infusion (T2), immediately after tracheal intubation (T3), and 1 min after tracheal intubation (T4). The QTc interval increased significantly at 10 min after the propofol infusion started compared to baseline (p = 0.003). After tracheal intubation, the QTc interval was further increased when compared to that at T2 (p < 0.0001). The increased QTc interval was within normal limit and no patient had an arrhythmia. In conclusion, although statistically significant, the increase in QTc interval was too small to be clinically significant during propofol infusion. However, the combination of propofol and tracheal intubation must be used carefully in patients with prolonged QTc interval.
Nocturnal haemodialysis increases pharyngeal size in patients with sleep apnoea and end-stage renal disease.

BACKGROUND Sleep apnoea is common in patients with end-stage renal disease (ESRD) and is improved by nocturnal haemodialysis (NHD). Recent findings from our laboratory indicate the development of ESRD is associated with pharyngeal narrowing. We hypothesized that NHD increases pharyngeal cross-sectional area and that this is associated with an improvement in sleep apnoea. METHODS Twenty-four patients (aged 32-68 years), receiving conventional haemodialysis (CHD) (4 h/day, 3 days/week), were recruited for overnight polysomnography and estimation of pharyngeal cross-sectional area at functional residual capacity (FRC) and residual volume (RV). Patients were divided into apnoeic and non-apnoeic groups based on an apnoea-hypopnoea index (AHI) > or = 15/h. Following conversion from CHD to NHD (8 h/night, 3-6 nights/week) all measurements were repeated and apnoeic patients were classified as 'responders' if AHI fell to < 15 events/h. RESULTS Conversion from CHD to NHD was associated with an increase in pharyngeal cross-sectional area (FRC: 3.29 +/- 0.67 vs 3.39 +/- 0.75 cm(2); RV: 1.91 +/- 0.51 vs 2.13 +/- 0.48 cm(2), P < 0.05), which was not significantly different between groups. Sleep apnoea improved in three patients. CONCLUSIONS Conversion from CHD to NHD is associated with an increase in pharyngeal cross-sectional area. This may play a role in some patients whose sleep apnoea improves on NHD.
Source of Endothelin-1 in Subarachnoid Hemorraghe

Abstract Endothelin-1 is the most potent vasoconstrictor known to date. This peptide is believed to play a pathophysiological role in the development of vasospasm, the most important complication of subarachnoid hemorrhage (SAH). In the present study we investigated the release of endothelin-1 in SAH and analyzed the cellular source of this peptide. At a protein and mRNA level we were able to show that endothelin-1 is produced by mononuclear leukocytes. Complementary in vitro studies revealed that aging and subsequent hemolysis of blood is sufficient to induce production of endothelin-1 by mononuclear leukocytes. Thus, cerebrospinal fluid-derived mononuclear leukocytes are a source of endothelin-1 in patients suffering from SAH. This finding may have important therapeutic implications as anti-leukocyte strategies could prevent cerebrovascular complications in SAH patients.
Clinical Experience with Subxiphoid Pericardiostomy in the Management of Pericardial Effusions: A Study of 240 Cases

We aimed to assess the effectiveness of subxiphoid pericardiostomy for treating patients with pericardial effusions (PE), and its contribution to defining the aetiology of these effusions. We undertook retrospective analysis of 240 PE patients who underwent subxiphoid pericardiostomy and tube drainage between 1990 and 2000. Echocardiography classified PE as severe in 132 patients, moderate in 99, and mild in nine. The main causes of PE were uraemic, idiopathic and undefined, tuberculous and non-tuberculous pericarditis, malignancy and trauma. Peri-operative myocardial injury requiring sternotomy, and recurrent effusion requiring further surgical intervention, occurred in three and 24 patients, respectively. Histopathological examination assisted the diagnosis in 94% of patients with malignancy, and 96% with tuberculous pericarditis. Overall 30-day mortality was 1.3% and pericardial constriction, requiring pericardiectomy, developed in seven cases. In conclusion, we believe that adults and children with PE can be safely, effectively and quickly managed with subxiphoid pericardiostomy, irrespective of its aetiology.
Biomass-Based Innovations in Demand Driven Research and Development Projects in Africa

The case for demand-driven research and development has received important considerations among governments, donors and programme implementing partners in development planning and implementation. Addressing demand is believed to be a bottom-top approach for designing and responding to development priorities and is good for achieving development outcomes. In this paper, we discuss the concept and application of demand driven research for development (DDRD) in Africa. We use evidence of six projects implemented under the BiomassWeb Project in Africa. We focus on parameters on level of engagement of stakeholders - whose demand is being articulated, the processes for demand articulation, capacity building and implementation processes, innovativeness of the project, reporting and sustainability of the project. We find that the nature of the institutions involved in articulation and implementation of demand-driven research and development projects and their partnerships influence the impact and reporting of demand-driven projects.
Impact of reducing peginterferon alfa-2a and ribavirin dose during retreatment in patients with chronic hepatitis C.

BACKGROUND & AIMS Reducing the dose of peginterferon and/or ribavirin to <80% when treating chronic hepatitis C virus has been associated with a reduction in sustained virologic response (SVR). However, prior studies did not assess the impact of reducing the dose of peginterferon independent of ribavirin or differentiate between dose reduction or interrupting or prematurely discontinuing treatment. METHODS Nine hundred thirty-six patients with chronic hepatitis C genotype 1, advanced fibrosis, or cirrhosis (Ishak 3-6) and prior nonresponse to standard interferon +/- ribavirin were retreated with peginterferon alfa-2a (180 microg/wk) and ribavirin (1000-1200 mg/day) during the lead-in phase of the HALT-C trial. The percentage of each medication actually taken during treatment was calculated. RESULTS Reducing the total cumulative dose of peginterferon received during the first 20 weeks of treatment from full dose (> or =98%) to < or =60% reduced week 20 virologic response (W20 VR) from 35% to 12% and SVR from 17% to 5%. Reducing the dose of ribavirin from full dose (> or =98%) to < or =60% did not affect either W20 VR or SVR as long as ribavirin dosing was not interrupted for more than 7 consecutive days. Prematurely discontinuing ribavirin, even at full-dose peginterferon, reduced W20 VR to < or =19% and SVR to < or =4%. CONCLUSIONS Reducing the peginterferon dose during the first 20 weeks of treatment reduced viral clearance and SVR. In contrast, reducing ribavirin did not affect either W20 VR or SVR as long as patients remained on full-dose peginterferon. Discontinuing ribavirin prematurely was associated with a marked decline in both VR and SVR.
The Contribution of Frictions to Expected Returns: An Options-based Estimation Approach

We derive a model-free option-based formula to estimate the contribution of market frictions to expected returns (CFER) within an asset pricing setting. We estimate CFER for the U.S. optionable stocks. We document that CFER is sizable, it predicts stock returns and it subsumes the effect of frictions on expected returns as expected theoretically. The sizable alpha of a long-short portfolio formed on CFER is consistent with the size of market frictions and it is not due to model mis-specification. Moreover, we show that various option-implied measures proxy CFER, thus providing a theoretical explanation for their ability to predict stock returns.
Distributed Control of Power Systems with Demand Participation

x List of Abbreviations and Symbols Used . x Acknowledgements . xiii Chapter
A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.

A child with phenotypic features of the 9p- syndrome, including metopic craniosynostosis, small ears, abdominal wall defect, and mental retardation, as well as hypopigmentation, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father. Molecular analysis showed heterozygous deletion of the TYRP (tyrosinase-related protein) locus, as well as loci D9S157, D9S274, D9S268, and D9S267, in the child but in neither parent. FISH analysis of the proband's father indicated that loci deleted in his son, including TYRP, were present on neither the der(3) nor the der(9) translocation products but had been inserted into the long arm of chromosome 8. Therefore, the apparent deletion of these loci in the proband was the result of meiotic segregation of the father's 3;9 translocation chromosomes together with his normal chromosome 8 (not bearing the insertion from 9p23). Neither the deletion of these 9p23 loci from the translocation chromosomes nor their insertion into 8q was detectable by standard chromosome banding techniques. The proband's sister exhibited speech delay, mild facial dysmorphism, and renal malformation, and her karyotype was 46,XX. Molecular analysis showed that she had inherited normal chromosomes 3 and 9, as well as the chromosome 8 with the insertion of 9p23 material, from her father. (ABSTRACT TRUNCATED AT 250 WORDS)