bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Authors: Canavati Christina , Klein Karl Martin , Afawi Zaid , Pendziwiat Manuela , Abu Rayyan Amal , Kamal Lara , Zahdeh Fouad , Qaysia Ikram , Helbig Ingo , Kanaan Moien 
Published: May 2019

AbstractDespite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with variable foci (FFEVF). Family I with 10 affected individuals and Family II with five affected individuals underwent detailed phenotyping over three generations. The phenotypic spectrum of the two families varied from nonlesional focal epilepsy including nocturnal frontal lobe epilepsy to severe structural epilepsy due to hemimegalencephaly. Whole‐exome sequencing and single nucleotide polymorphism array analysis revealed pathogenic variants in NPRL3 in each family, a partial ~38‐kb deletion encompassing eight exons (exons 8‐15) and the 3′‐untranslated region of the NPRL3 gene in Family I, and a de novo nonsense variant c.1063C>T, p.Gln355* in Family II. Furthermore, we identified a truncating variant in the PDCD10 gene in addition to the NPRL3 variant in a patient with focal epilepsy from Family I. The individual also had developmental delay and multiple cerebral cavernomas, possibly demonstrating a digenic contribution to the individual's phenotype. Our results implicate the association of NPRL3 with hemimegalencephaly, expanding the phenotypic spectrum of NPRL3 in FFEVF and underlining that partial deletions are part of the genotypic spectrum of NPRL3 variants.
Spanish primary care survey on the management of Helicobacter pylori infection and dyspepsia: Information, attitudes, and decisions
Authors: McNicholl Adrian G. , Amador Javier , Ricote Mercedes , Cañones‐Garzón Pedro J. , Gene Emili , Calvet Xavier , Gisbert Javier P. ,   the Spanish Primary Care Societies SEMFyC,   SEMERGEN and SEMG, the Spanish Association of Gastroenterology,   the OPTICARE Long‐Term Educational Project
Published: May 2019

AbstractIntroductionDyspepsia and Helicobacter pylori are two of the most relevant digestive conditions in primary care. Several consensuses on the subject have been published, but the assimilation/implementation of these guidelines is uncertain.Aims and MethodsTo evaluate the attitudes, perceptions, limitations, and adherence to recommendations of Spanish primary care physicians using an open online survey. Responses were anonymously codified. Estimated margin of error was 3.4%. Responses were weighted by province, gender, age, and type of practice. Survey was performed using the AEG‐REDCap platform.ResultsA total of 1445 responses, received between December 2017 and April 2018, were analyzed. Women represented 54%, and the average age was 48 years; 59% were from urban context, 20% from semi‐urban, and 21% from rural; 93% provided public practice. Over 40% had read at least one Maastricht consensus (24% Maastricht V), and 34% had attended a course related to H. pylori. 16% reported no direct access to any validated diagnostic method, only 44% to urea breath test, and 33% did not systematically refer to eradication confirmation test. The first‐line treatment of choice was standard triple therapy in 56%, followed by concomitant therapy (28%). Only 20% of physicians had optimal adherence to recommendations.ConclusionEven though some improvements from guidelines have been partially incorporated, the level of penetration of recommendations is still poor and delayed. To provide optimal primary care, the barriers for implementation, access to diagnostic tests and to continuous medical education, should be removed. Rigorous dissemination, implementation, and evaluation programs are desired in future consensuses.
High‐dose PPI‐amoxicillin dual therapy with or without bismuth for first‐line Helicobacter pylori therapy: A randomized trial
Authors: Yu Lou , Luo Laisheng , Long Xiaohua , Liang Xiao , Ji Yingjie , Graham David Y. , Lu Hong 
Published: May 2019

AbstractBackgroundA reliably highly effective high‐dose proton‐pump inhibitor plus amoxicillin (dual Helicobacter pylori therapy) has remained elusive. We compared whether the addition of bismuth to high‐dose dual therapy would improve the efficacy of high‐dose dual therapy as first‐line treatment.MethodsThis was an open‐label, randomized single‐center study of 160 treatment‐naive patients with H. pylori infection who were randomly assigned to 14‐day therapy with esomeprazole 40 mg twice a day plus amoxicillin 1 g three times a day with or without bismuth potassium citrate 600 mg (elemental bismuth 220 mg) twice a day. Antibiotic resistance was determined by agar dilution method and eradication by 13C‐urea breath test.ResultsThe per‐protocol eradication rates were 96.1%; 95% CI = 88.9%‐99.2% (73/76) without bismuth vs 93.3%; 95% CI = 85.1%‐97.8% (70/75) with bismuth (P = 0.494). The intention‐to‐treat eradication rates were 92.5%; 95% CI = 84.4%‐97.2% (74/80) without bismuth and 88.8%; 95% CI = 79.7%‐94.7% (71/80) with bismuth (P = 0.416). Resistance to amoxicillin, clarithromycin, metronidazole, and levofloxacin was 0%, 31.7%, 81.4%, and 40.7%, respectively. Smoking reduced treatment effectiveness limited to those not receiving bismuth. The per‐protocol eradication rates were 70% (7/10) vs 100% (66/66) in smokers vs non‐smokers without bismuth (P = 0.002), and 100% (10/10) in smokers vs 92.3% (60/65) in non‐smokers with bismuth (P = 1.0). The adverse event rates were 7.5% (6/80) without bismuth vs 11.3% (9/80) with bismuth (P = 0.416).ConclusionsFourteen‐day high‐dose dual therapy was both effective and safe for first‐line treatment in a region of high prevalence antibiotic resistance. Adding bismuth only improved treatment effectiveness among smokers.
Guidelines for the management of Helicobacter pylori infection in Japan: 2016 Revised Edition
Authors: Kato Mototsugu , Ota Hiroyoshi , Okuda Masumi , Kikuchi Shogo , Satoh Kiichi , Shimoyama Tadashi , Suzuki Hidekazu , Handa Osamu , Furuta Takahisa , Mabe Katsuhiro , Murakami Kazunari , Sugiyama Toshiro , Uemura Naomi , Takahashi Shin'ichi 
Published: May 2019

AbstractBackgroundSince “Helicobacter pylori (H. pylori) infection” was set as the indication in the Japanese Society for Helicobacter Research (JSHR) Guidelines 2009, eradication treatment for H. pylori gastritis is covered under insurance since 2013 in Japan, and the number of H. pylori eradication has rapidly increased. Under such circumstances, JSHR has made the third revision to the “Guidelines for diagnosis and treatment of H. pylori infection” for the first time in 7 years.MethodsThe Guideline Committee held 10 meetings. Articles published between the establishment of the 2009 Guidelines and March 2016 were reviewed and classified according to the evidence level; the statements were revised on the basis of this review. After inviting public comments, the revised statements were finalized using the Delphi method.ResultsThere was no change in the basic policy that H. pylori infectious disease is an indication for eradication. Other diseases presumed to be associated with H. pylori infection were added as indications. Serum pepsinogen level, endoscopic examination, and X‐ray examination were added to the diagnostic methods. The effects of 1‐week triple therapy consisting of potassium‐competitive acid blocker (P‐CAB), amoxicillin, and clarithromycin have improved, and high eradication rates can also be expected with proton pump inhibitors (PPI) or P‐CAB combined with amoxicillin and metronidazole. If the susceptibility test is not performed, the triple PPI or P‐CAB/amoxicillin/metronidazole therapy should be chosen, because the PPI/amoxicillin/metronidazole combination demonstrated a significantly higher eradication rate than PPI/amoxicillin/clarithromycin. In the proposal for gastric cancer prevention, we divided gastric cancer prevention measures by age from adolescent to elderly, who are at an increased gastric cancer risk, and presented measures for gastric cancer prevention primarily based on H. pylori eradication.ConclusionWe expect the revised guidelines to facilitate appropriate interventions for patients with H. pylori infection and accomplish its eradication and prevention of gastric cancer.
Root canal configuration and its relation with endodontic technical errors in premolar teeth: a CBCT analysis
Authors: Nascimento E. H. L. , Nascimento M. C. C. , Gaêta‐Araujo H. , Fontenele R. C. , Freitas D. Q. 
Published: May 2019

AbstractAimTo evaluate the association between endodontic technical errors and the root canal configuration (RCC) of human premolars, as well as their relationship with periapical lesions through cone‐beam computed tomography (CBCT) images.MethodologyThe sample consisted of CBCT scans belonging to 136 patients, totalling 152 root filled premolars (185 roots). CBCT images were evaluated by two oral radiologists. RCC was recorded according to Vertucci's classification, and the endodontic treatment quality was judged on the presence and type of technical endodontic errors (underfilling, overfilling, nonhomogeneous filling, nonfilled canal, fractured instruments, root deviation and absence of coronal restoration). In addition, the presence of periapical lesions associated with each RCC was recorded. Data were expressed by frequencies and percentages, and intraobserver agreement was calculated using the Kappa test.ResultsThe most common RCC was type I (71%), followed by type IV (15%), type II (8%), type V (3%), type VI (1%) and type III (1%). Types VII and VIII were not observed in the sample. Underfilling was the most frequent endodontic technical error for most RCCs, except for types IV, V and ‘other’, whose most frequent error was a nonfilled canal. The presence of technical errors was greater with an increase in the proportion of the periapical lesions. The intraobserver agreement was excellent.ConclusionsThere was an increase in the prevalence of endodontic technical errors and in the presence of periapical lesions as the anatomical complexity of the root canals increased. Underfilled and nonfilled canal were the most frequent endodontic technical errors.
Performance evaluation of the prototype Abbott Alinity hq hematology analyzer
Authors: Van der Beken Yolien , Van Dalem Annelien , Van Moer Guy , Segers Eddy , Damiaens Serge , Hoffmann Johannes , Lakos Gabriella , Jochmans Kristin 
Published: May 2019

AbstractIntroductionThe analytical and clinical performance as well as the workflow efficiency of the novel, prototype Alinity hq hematology analyzer was evaluated in the clinical laboratory of Universitair Ziekenhuis Brussel, Department of Hematology, Brussels, Belgium.MethodsWithin‐run and within‐laboratory imprecision, linearity, and carryover were assessed using clinical blood samples and commercial blood products. Four hundred and seventeen samples were selected for method comparison with Abbott CELL‐DYN Sapphire, and for flagging performance analysis in comparison with smear review and manual microscopic white blood cell (WBC) differential.ResultsWithin‐run and within‐laboratory imprecision verification demonstrated low %CV for complete blood count and WBC differential results within the normal ranges (0.1%‐10.4%), except for basophil granulocytes. The linearity of the analytical measuring ranges was verified for WBCs, red blood cells, hemoglobin, and platelets. Alinity hq results showed strong agreement with those of CELL‐DYN Sapphire. Good correlation was demonstrated with manual WBC differential results, with negative bias for neutrophil (NEU) granulocytes, and positive bias for lymphocytes and monocytes. Blasts were detected with 75% sensitivity and 96% specificity at 1% blast threshold, and 100% sensitivity at 5% blast threshold. Immature granulocyte detection was more sensitive (81% vs 76%, P = 0.086) and specific (88% vs 78%, P = 0.0002) than with CELL‐DYN Sapphire. Nucleated red blood cell detection was more sensitive (89% vs 63%, P < 0.001) and just slightly less specific (96% vs 99%, P = 0.0067) than with CELL‐DYN Sapphire. Re‐run and reflex testing rates were lower with Alinity hq.ConclusionThe Alinity hq hematology analyzer is suitable for clinical use.
Chromosomal microarray analysis is superior in identifying cryptic aberrations in patients with acute lymphoblastic leukemia at diagnosis/relapse as a single assay
Authors: Chen Chuanfei , Heng Evelyn Yee Hsieh , Lim Alvin Soon Tiong , Lau Lai Ching , Lim Tse Hui , Wong Gee Chuan , Tien Sim Leng 
Published: May 2019

AbstractIntroductionConventional cytogenetics (CC) is important in diagnosis, therapy, monitoring of post‐transplant bone marrow, and prognosis assessment of acute lymphoblastic leukemia (ALL). However, due to the nature of ALL, CC often encounters difficulties of complex karyotype, poor chromosome morphology, low mitotic index, or normal cells dividing only. In contrast, chromosomal microarray analysis (CMA) showed a specificity >99% and a sensitivity of 100% in chronic lymphocytic leukemia (CLL) patients. Here, we report our experience with CMA on adult ALL patients.MethodsThirty‐three bone marrow/blood samples from ALL patients (aged 18‐79 years, median 44) at diagnosis/relapse, analyzed by CC and/or fluorescence in situ hybridization (FISH), were recruited. Chromosomal microarray analysis results were compared with CC. Fluorescence in situ hybridization analysis, if available, was applied when there was a discrepancy.ResultsCopy‐neutral loss‐of‐heterozygosity (CN‐LOH) was found in 8 cases (24.2%). Only CN‐LOH at 9p was recurrent (3 cases, 9.1%). Copy number alterations (CNAs) were detected in 6 of 9 cases (66.7%) with normal karyotypes, in 3 of 5 cases (60.0%) with sole “balanced” translocations, and in 18 of 19 cases (94.7%) with complex karyotypes. Common CNAs involved CDKN2A/2B (30.3%), IKZF1 (27.3%), PAX5 (9.1%), RB1 (9.1%), BTG1 (6.7%), and ETV6 (6.7%), which regulate cell cycle, B lymphopoiesis, or act as tumor suppressors in ALL. Copy number alteration detection rate by CMA was 81.8% (27 of 33 cases) as compared to 57.6% (19 of 33 cases) by CC.ConclusionIncorporation of CMA as a routine clinical test at the time of diagnosis/relapse, in conjunction with CC and/or FISH, is highly recommended.
Progressive resistance training for persons with intellectual disabilities and visual impairment
Authors: Dijkhuizen Annemarie , Waninge Aly , Hermans Seph , van der Schans Cees P. , Krijnen Wim P. 
Published: May 2019

AbstractBackgroundKnowledge concerning the feasibility and effects of progressive resistance training (PRT) for persons with intellectual disabilities and visual impairment who are categorized in Gross Motor Function Classification System (GMFCS) Level 1 is limited. The aim of our study was to evaluate feasibility and effect of PRT on participants' Quadriceps strength and personal goals.MethodsEight Participants followed a PRT program for 10 weeks. Feasibility was determined by percentage of attendance and compliance. The effect of PRT was analyzed with a linear mixed model (p < 0.05) and by normalized bootstrap (95% CI).ResultsParticipants attended 87.8% of the sessions and trained according to the PRT program, indicating sufficient compliance. Quadriceps strength increased significantly by 69%, and participants' personal goals were achieved.ConclusionPRT is a feasible and potentially effective method for increasing Quadriceps strength as well as achieving personal goals in persons with intellectual disabilities and visual impairment with GMFCS Level 1.
“A Song of Ice and Fire”—another verse from the world of ablation
Authors: Saul J. Philip , LaPage Martin J. 
Published: May 2019

AbstractThe debate between the use of radiofrequency (RF) or cryoenergy for ablation near the atrioventricular (AV) conducting system or small coronaries has been fueled by the relative efficacies and risks of the two technologies, particularly in smaller hearts. The manuscript by Schneider et al adds another chapter to that ongoing debate.
Electrophysiologic and anatomic factors predictive of a need for touch‐up radiofrequency application for complete pulmonary vein isolation: Comparison between hot balloon‐ and cryoballoon‐based ablation
Authors: Wakamatsu Yuji , Nagashima Koichi , Nakahara Shiro , Iso Kazuki , Watanabe Ryuta , Arai Masaru , Otsuka Naoto , Yagyu Seina , Kurokawa Sayaka , Ohkubo Kimie , Nakai Toshiko , Okumura Yasuo 
Published: May 2019

AbstractIntroductionAlthough electrophysiologic and anatomic factors associated with the need for touch‐up radiofrequency (RF) applications after cryoballoon ablation (CBA) for atrial fibrillation (AF) have been well described, those associated with the need for such touch‐up after hot balloon ablation (HBA) have not. We aimed to identify factors predictive of the need for touch‐up applications following HBA.MethodsAnatomic and electrophysiologic factors predictive of the need for touch‐up RF ablation were compared between 46 propensity score‐matched pairs of patients who underwent HBA or CBA for AF.ResultsTouch‐up RF ablation was more frequently required after HBA than after CBA (57% vs 30%, respectively; P = .01), and mostly at the anterior aspect of the left superior pulmonary vein (LSPV) carina after HBA (35%) but at the inferior aspect of the right inferior PV (RIPV) after CBA (71%). Post HBA touch‐up was associated with male gender, a CHA
2DS
2‐VASc score ≤ 2, PV‐left atrial bipolar voltage ≥ 1.35 mV, and PV trunk length ≥ 24.0 mm; post CBA touch‐up associated with a history of heart failure.ConclusionFollowing balloon ablation for AF, there may be a need for touch‐up applications, especially at the LSPV ridge after HBA but at the RIPV after CBA. It may behoove operators to expect a need for touch‐up following HBA when patients are male, have a CHA2DS
2‐VASc score ≤ 2 points, when PV‐LA bipolar voltage is ≥ 1.35 mV, or when the PV trunk is ≥ 24.0 mm or following CBA when there is a history of heart failure.
Left atrial effective conducting size predicts atrial fibrillation vulnerability in persistent but not paroxysmal atrial fibrillation
Authors: Williams Steven E. , O’Neill Louisa , Roney Caroline H. , Julia Justo , Metzner Andreas , Reißmann Bruno , Mukherjee Rahul K. , Sim Iain , Whitaker John , Wright Matthew , Niederer Steven , Sohns Christian , O’Neill Mark 
Published: May 2019

AbstractBackgroundThe multiple wavelets and functional re‐entry hypotheses are mechanistic theories to explain atrial fibrillation (AF). If valid, a chamber's ability to support AF should depend upon the left atrial size, conduction velocity (CV), and refractoriness. Measurement of these parameters could provide a new therapeutic target for AF. We investigated the relationship between left atrial effective conducting size (LAECS), a function of area, CV and refractoriness, and AF vulnerability in patients undergoing AF ablation.Methods and ResultsActivation mapping was performed in patients with paroxysmal (n = 21) and persistent AF (n = 18) undergoing pulmonary vein isolation. Parameters used for calculating LAECS were: (a) left atrial body area (A); (b) effective refractory period (ERP); and (c) total activation time (T). Global CV was estimated as . Effective atrial conducting size was calculated as . Post ablation, AF inducibility testing was performed. The critical LAECS required for multiple wavelet termination was determined from computational modeling. LAECS was greater in patients with persistent vs paroxysmal AF (4.4 ± 2.0 cm vs 3.2 ± 1.4 cm; P = .049). AF was inducible in 14/39 patients. LAECS was greater in AF‐inducible patients (4.4 ± 1.8 cm vs 3.3 ± 1.7 cm; P = .035, respectively). The difference in LAECS between inducible and noninducible patients was significant in patients with persistent (P = .0046) but not paroxysmal AF (P = .6359). Computational modeling confirmed that LAECS > 4 cm was required for continuation of AF.ConclusionsLAECS measured post ablation was associated with AF inducibility in patients with persistent, but not paroxysmal AF. These data support a role for this method in electrical substrate assessment in AF patients.
Double cryoenergy application (freeze‐thaw‐freeze) at growing myocardium: Lesion volume and effects on coronary arteries late after energy application. Implications for efficacy and safety in pediatric patients
Authors: Schneider Heike E. , Stahl Maja , Schillinger Wolfgang , Müller Matthias , Backhoff David , Schill Manfred , Groene Nehle , Krause Ulrich , Sigler Matthias , Paul Thomas 
Published: May 2019

AbstractIntroductionCryoenergy is accepted as an alternative to radiofrequency ablation (RFA) in childen for ablation of supraventricular tachycardia substrates. Single cryoenergy application has been shown to be inferior to RFA. Double cryoenergy application has therefore been introduced into clinical practice, but experience concerning efficacy is limited. Coronary artery stenosis has been reported as serious complication after RFA for arrhythmia substrates but not after single cryoablation. The purpose of the study was to assess lesion volume (efficacy) and risk of coronary artery damage (safety), late, that is, 6 months, after double cryoenergy application in a piglet model.MethodsTwo sequential cycles of cryoenergy were delivered at −75°C for 4 minutes at the atrioventricular groove in five piglets. Animals were restudied after 6 months by coronary angiography and intracoronary ultrasound (ICUS). Ablation lesions were examined histologically and lesion volume was determined by three‐dimensional morphometric analysis.ResultsCryolesion volume was 174.04 ± 67.18 mm3 for atrial and 238.69 ± 112.1 mm3 for ventricular lesions (P > .05). Ventricular lesions, 4.06 ± 1.05 mm, were significantly deeper than atrial lesions, 3.58 ± 0.78 mm, (P < .05). In two of the 29 lesions, cryoenergy induced minor coronary artery injury with mild medial and adventitial thickening as well as minimal intimal proliferation, which had neither been detected by coronary angiography nor by ICUS.ConclusionLate after double cryoenergy application at growing myocardium, subclinical minor affection of the coronary artery wall could be detected with minimal intimal proliferation. As lifetime sequelae of this finding remains unknown, further studies are warranted to address safety of repeated cycles of cryoenergy application for tachycardia substrates in children.