bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Associations of Colon and Rectal Cancers With Other Cancers
Authors: Yu Hongyao , Hemminki Akseli , Sundquist Kristina , Hemminki Kari 
Published: January 2019

BACKGROUND:
Many studies have indicated that colon and rectal cancers differ in etiology and histology.

OBJECTIVE:
The aim of this study was to investigate whether the associations of colon and rectal cancers with any other (discordant) cancer were site specific.

DESIGN:
A novel approach was implemented in which cancer risks were analyzed in families with increasing numbers of family members diagnosed with defined cancers. The novel assumption was that, for a true familial association, the risk should increase by the number of affected family members. In separate analyses, familial risks were calculated after the exclusion of putative families with hereditary nonpolyposis colorectal cancer.

SETTINGS:
The study was conducted using the Swedish Family-Cancer Database.

MAIN OUTCOME MEASURES:
The outcome measure was relative risk.

RESULTS:
Relative risks of colorectal cancer and colon cancer were higher when family members were diagnosed with colon cancer than when family members were diagnosed with rectal cancer (incidence rate ratio for colorectal: 1.82 (95% CI, 1.74–1.90) vs 1.61 (95% CI, 1.51–1.71); incidence rate ratio for colon: 1.92 (95% CI, 1.83–2.02) vs 1.56 (95% CI, 1.45–1.69)). Relative risks for 10 discordant cancers were increased in colon or rectal cancer families, whereas none of the relative risks differed significantly between colon and rectal cancers. After deleting hereditary nonpolyposis colorectal cancer families, the relative risks of endometrial and ovarian cancers were no longer significant.

LIMITATIONS:
Genetic data are unavailable in the database.

CONCLUSIONS:
Our results suggested that familial risks for colon cancer were higher than risks for rectal cancer in families of patients with colorectal cancer and colon cancer. The relationships of lung cancer and nervous system cancer with colorectal cancer were site specific. The associations of colon and rectal cancers with lung cancer, myeloma, and cancer of unknown primary appeared not to point out known syndromes and may suggest involvement of a novel predisposition. See Video Abstract at http://links.lww.com/DCR/A791.
Head-Mounted Mixed-Reality Technology During Robotic-Assisted Transanal Total Mesorectal Excision
Authors: Huber Tobias , Hadzijusufovic Edin , Hansen Christian , Paschold Markus , Lang Hauke , Kneist Werner 
Published: January 2019

INTRODUCTION:
Head-mounted mixed-reality technologies may enable advanced intraoperative visualization during visceral surgery. In this technical note, we describe an innovative use of real-time mixed reality during robotic-assisted transanal total mesorectal excision.

TECHNIQUE:
Video signals from the robotic console and video endoscopic transanal approach were displayed on a virtual monitor using a head-up display. The surgeon, assistant, and a surgical trainee used this technique during abdominal and transanal robotic-assisted total mesorectal excision. We evaluated the feasibility and usability of this approach with the use of validated scales.

RESULTS:
The technical feasibility of the real-time visualization provided by the current setup was demonstrated for both the robotic and transanal parts of the surgery. The surgeon, assistant, and trainee each used the mixed-reality device for 15, 55, and 35 minutes. All participants handled the device intuitively and reported a high level of comfort during the surgery. The task load was easily manageable (task load index: <4/21), although the surgeon and assistant both noted a short delay in the real-time video.

CONCLUSION:
The implementation of head-mounted mixed-reality technology during robotic-assisted transanal total mesorectal excision can benefit the operating surgeon, assistant, and surgical trainee. Further improvements in display quality, connectivity, and systems integration are necessary.
ASYMPTOMATIC MULTIFOCAL PARACENTRAL ACUTE MIDDLE MACULOPATHY ASSOCIATED WITH JUVENILE DERMATOMYOSITIS: OPTICAL COHERENCE ANGIOGRAPHY FINDINGS
Authors: Starr Matthew R. , Softing Hataye Alaina L. , Bakri Sophie J. 
Published: January 2019

Purpose:
To describe a unique presentation of multifocal paracentral acute middle maculopathy in a young patient with juvenile dermatomyositis including optical coherence tomography angiography findings.

Methods:
Retrospective single case report.

Patient:
Seventeen-year-old male patient with a history of juvenile dermatomyositis presented for routine hydroxychloroquine screening.

Results:
Optical coherence tomography revealed undulations of the outer retinal layers and retinal thinning near the fovea in both eyes. Optical coherence tomography angiography revealed loss of flow void densities in the superficial and deep capillary plexi in both eyes. These findings were consistent with a diagnosis of paracentral acute middle maculopathy.

Conclusion:
To the authors' knowledge, this is the first report of the optical coherence tomography angiography findings in paracentral acute middle maculopathy associated with juvenile dermatomyositis. The defects were located in the superficial and deep capillary plexi and likely due to the known occlusive retinopathy associated with juvenile dermatomyositis.
Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency
Authors: Deng Sophie X. , Borderie Vincent , Chan Clara C. , Dana Reza , Figueiredo Francisco C. , Gomes José A. P. , Pellegrini Graziella , Shimmura Shigeto , Kruse Friedrich E. ,   and The International Limbal Stem Cell Deficiency Working Group
Published: January 2019

Purpose:
Despite extensive knowledge gained over the last 3 decades regarding limbal stem cell deficiency (LSCD), the disease is not clearly defined, and there is lack of agreement on the diagnostic criteria, staging, and classification system among treating physicians and research scientists working on this field. There is therefore an unmet need to obtain global consensus on the definition, classification, diagnosis, and staging of LSCD.

Methods:
A Limbal Stem Cell Working Group was first established by The Cornea Society in 2012. The Working Group was divided into subcommittees. Four face-to-face meetings, frequent email discussions, and teleconferences were conducted since then to obtain agreement on a strategic plan and methodology from all participants after a comprehensive literature search, and final agreement was reached on the definition, classification, diagnosis, and staging of LSCD. A writing group was formed to draft the current manuscript, which has been extensively revised to reflect the consensus of the Working Group.

Results:
A consensus was reached on the definition, classification, diagnosis, and staging of LSCD. The clinical presentation and diagnostic criteria of LSCD were clarified, and a staging system of LSCD based on clinical presentation was established.

Conclusions:
This global consensus provides a comprehensive framework for the definition, classification, diagnosis, and staging of LSCD. The newly established criteria will aid in the correct diagnosis and formulation of an appropriate treatment for different stages of LSCD, which will facilitate a better understanding of the condition and help with clinical management, research, and clinical trials in this area.
Intraoperative Optical Coherence Tomography–Guided Femtosecond Laser–Assisted Deep Anterior Lamellar Keratoplasty
Authors: Liu Yu-Chi , Wittwer Valéry V. , Yusoff Nur Zahirah Bte M. , Lwin Chan Nyein , Seah Xin Yi , Mehta Jodhbir S. , Seiler Theo 
Published: January 2019

Purpose:
To describe the feasibility and outcomes of intraoperative optical coherence tomography (OCT)–guided, femtosecond laser–assisted deep anterior lamellar keratoplasty in which the lamellar and tunnel cuts were completed by laser.

Methods:
The Ziemer Z8 system was used to scan the corneas intraoperatively and guide the stromal lamellar and tunnel cuts created by the laser. Thirty porcine eyes and 3 human cadaver globes were used to evaluate the accuracy of laser-created intrastromal tunnels and the feasibility of achieving big-bubble pneumatic dissection. The tunnel distance above the Descemet membrane (D
t-dm) was set at 100 and 130 μm, and the accuracy of laser cut was assessed by anterior segment OCT and histological sections. Fourteen patients with keratoconus or corneal scars were then included to evaluate the clinical outcomes.

Results:
The deviation from the targeted D
t-dm was 5.5% to 8.6% and 0.7% to 9.8% for the 100 and 130 μm groups, respectively. The achieved thickness had a significantly and positively strong correlation with the targeted thickness (r = 0.86; P < 0.001). In all cases, the anterior stromal lamella was removed without difficulty, except in the patients with corneal scars in whom some remaining stromal fiber attachments were observed. A type 1 big bubble was successfully achieved in all patients.

Conclusions:
We present the accuracy and clinical outcomes of femtosecond laser–assisted, intraoperative OCT–guided deep anterior lamellar keratoplasty, in which controlled lamellar and tunnel cuts at desired depths were performed by laser in one step, and a successful big bubble was achieved.
Epidemiology of intrahepatic, perihilar, and distal cholangiocarcinoma in the French population
Authors: Al Mahjoub Aimen , Bouvier Véronique , Menahem Benjamin , Bazille Céline , Fohlen Audrey , Alves Arnaud , Mulliri Andrea , Launoy Guy , Lubrano Jean 
Published: January 2019

Objectives
The objective of this study was to investigate the differences between cholangiocarcinoma (CC) subtypes in terms of incidence rate, clinical presentation, management and survival by applying a stable anatomical classification in a population-based study.

Patients and methods
Cancer data for the period 2000–2012 were obtained from a specialized digestive cancer registry in the Department of Calvados, France. Patients’ files were checked, and the diagnosis was verified by two hepatobiliary surgeons. This approach prevents classifying perihilar cholangiocarcinoma (PHCC) as intrahepatic cholangiocarcinoma (ICC), thereby allowing an accurate estimation of their respective epidemiological characteristics.

Results
A total of 320 patients with CC were included. ICC represented 41% (130), whereas PHCC and distal cholangiocarcinoma represented 36 (116) and 23% (74), respectively. The mean age at the time of diagnosis differed significantly between the three subtypes (P<0.05). ICC was discovered accidently more frequently than PHCC, which was associated significantly with clinical symptoms. No change in the incidence or survival rates of CC subtypes were noticed, except for PHCC, in which female individuals had a significantly shorter median and 5-year survival rate of 0% (P<0.05).

Conclusion
The frequency of PHCC is overestimated in the literature. The anatomical reclassification of CC subtypes shows the stability of their incidence and survival rates. Considering ICC and PHCC as two different entities implies the need to assign a specific topographic code for PHCC.
Comparison of transjugular intrahepatic portosystemic shunt for treatment of variceal bleeding in patients with cirrhosis with or without spontaneous portosystemic shunt
Authors: Leng Xiafei , Zhang Feng , Zhang Ming , Guo Huiwen , Yin Xiaochun , Xiao Jiangqiang , Wang Yi , Zou Xiaoping , Zhuge Yuzheng 
Published: January 2019

Background and aims
Transjugular intrahepatic portosystemic shunt (TIPS) is an effective intervention for portal hypertensive complications in cirrhosis. Spontaneous portosystemic shunts (SPSSs) may increase the risk of post-TIPS complications and mortality. This study was done to evaluate the safety and efficacy of TIPS for treating variceal bleeding between patients with and without SPSSs.

Patients and methods
The clinical data of 467 consecutive patients with cirrhosis who received TIPS for variceal bleeding from January 2012 to January 2018 were screened. A total of 33 patients with coexisting SPSSs were included as the SPSS group, and 33 patients without SPSSs were randomly selected as control. The procedure-related complications and long-term outcomes were compared between the two groups.

Results
Both groups were successfully treated with TIPS. SPSSs were antegradely embolized before TIPS placement. In terms of safety, one patient in the SPSS group experienced an asymptomatic pulmonary embolism, and another patient experienced serious gastric ulcer bleeding. Overall, 23 (70.0%) patients in the SPSS group and 16 (51.5%) patients in the control group experienced different mild complications (P=0.131). During a median follow-up of more than 2 years, the rebleeding rates (7.1 vs. 3.7% at 1 year, P=0.508), overt hepatic encephalopathy occurrence rates (34.4 vs. 39.4% at 2 years, P=0.685), and orthotopic liver transplantation-free survival rates (73.2 vs. 70.7% at 2 years, P=0.557) were not significantly different between the two groups.

Conclusion
TIPS combined with antegrade embolization is safe, effective, and feasible for patients with SPSSs, with safety and long-term outcomes comparable to patients without SPSSs.
What are the most promising new agents in myelodysplastic syndromes?
Authors: Chandhok Namrata S. , Boddu Prajwal C. , Gore Steven D. , Prebet Thomas 
Published: January 2019

Purpose of review
Myelodysplastic syndromes (MDS) are a diverse group of clonal disorders of hematopoietic stem or progenitor cells that represent the most common class of acquired bone marrow failure syndromes in adults. Despite significant improvement in the pathologic insight into this group of disorders, therapeutic options remain limited and allogeneic hematopoietic stem-cell transplantation is the only treatment that can induce long-term remission in patients with MDS. The goals of therapy for MDS are based on disease prognostication, with a focus of minimizing transfusion dependence and preserving quality of life in low-risk groups and preventing progression of disease to acute myeloid leukemia in high-risk groups. Given the dearth of approved treatment options, there is a marked need for novel therapies across the board, and there are several novel agents currently in the pipeline.

Recent findings
Among the promising agents with preclinical and early phase efficacy in higher risk MDS, apoptosis targeting with BCL-2 inhibitors have been a standout. There is also a keen interest in immunotherapy, and targeted agents (genetic, signaling pathways, bispecific antibodies, antibody-drug conjugates, and others described in this review).

Summary
In this review, we will highlight some of the promising new agents currently under investigation for the management of MDS.
Deliveries at extreme prematurity: outcomes, approaches, institutional variation, and uncertainty
Authors: Arzuaga Bonnie H. , Cummings Christy L. 
Published: January 2019

Purpose of review
Medical decision making and practices surrounding extremely premature birth remains challenging for parents and care providers alike. Recently, concerns have been raised regarding wide practice variation, selection bias, and the limitations of outcomes data in this population. The purpose of this review is to summarize the recent literature relevant to deliveries at extreme prematurity with a focus on outcomes, approaches, and institutional variation.

Recent findings
Newer data suggest that evidence-based clinical guidelines and protocols for both pregnant women and infants at extreme prematurity are emerging and may improve care and outcomes at lower gestational ages. It has also been recently shown that wide practice variation, selection bias, and methodological limitations of outcomes data reporting with respect to deliveries at extreme prematurity exist.

Summary
Counseling at extreme prematurity should prioritize eliciting parental values and preferences with the goal of personalized shared decision-making. Providers should recognize limitations in counseling families at extreme prematurity, including selection bias, institutional variation, outcomes inaccuracies, prognostic uncertainty, and implicit biases. Standardized reporting of perinatal outcomes should be developed to help alleviate current outcomes misrepresentations and improve counseling at extreme prematurity. Education for providers in advanced communication skills is needed when counseling at extreme prematurity.
Barium Enema Revisited in the Workup for the Diagnosis of Hirschsprung's Disease
Authors: Lourenção Pedro Luiz Toledo de Arruda , Valerini Felipe Gilberto , Cataneo Antonio Jose Maria , Ortolan Erika Veruska Paiva , Silveira Guilherme Lopes da , Piva Mariana Floriano Luiza , Cucco Lucas da Matta , Rodrigues Maria Aparecida Marchesan 
Published: January 2019

ABSTRACTObjective:To analyse the diagnostic capacity of barium enema (BE) in the diagnostic investigation for Hirschsprung's disease (HD) was analyzed for transition zone (TZ) identification and rectosigmoid index (RSI) ⩽1.0 determination.Patients and Methods:BE images were analyzed retrospectively by 2 examiners and the results were compared with the histopathology of rectal biopsies.Results:TZ identification and RSI ⩽1.0 were assessed separately and combined in 43 patients. Twelve (27.9%) patients had the diagnosis of HD based on rectal biopsies. TZ identification presented better diagnostic capacity for the 2 examiners than RSI ⩽1.0. However, interexaminer agreement was higher for RSI ⩽1.0 than for TZ identification. The combination of TZ identification and RSI ⩽1.0 increased the sensitivity (83.3%–92.3%) and the negative predictive value (90.4%–92.3%).Conclusion:Therefore, the high diagnostic sensitivity of TZ identification combined to RSI ⩽1.0 reinforces the usefulness of these BE parameters in the screening for Hirschsprung's disease.
Serum Calprotectin in Adolescents With Inflammatory Bowel Disease—A Pilot Investigation
Authors: Carlsen Katrine , Malham Mikkel , Hansen Lars Folmer , Petersen Jens Jakob Herrche , Paerregaard Anders , Houen Gunnar , Wewer Vibeke 
Published: January 2019

ABSTRACTObjectives:Fecal calprotectin (FC) is a well‐integrated parameter in the monitoring of adolescent patients with inflammatory bowel disease (IBD). However, measurement of FC is limited by day‐to‐day‐variation and by the feces consistency. Furthermore, adolescents are often noncompliant to deliver fecal sampling leading to suboptimal monitoring. Consequently, we see the need of a substitute biomarker whenever measurement of FC fails and aimed to investigate serum calprotectin (SC) in adolescents with IBD.Methods:In cross sectional data from 19 ulcerative colitis (UC) patients <18 years old, a Spearman correlation was used to analyze the correlation between SC, FC, C‐reactive protein (CRP) and endoscopic and symptom scores. In longitudinal data collected from 20 UC and Crohn disease (CD) patients (10–17 years old), Mixed Effect Models (MEM) were used to analyze the association between SC, FC, CRP, and symptom scores.Results:We found positive correlations between SC (19 samples) and the endoscopic score, symptom score, and CRP (r = 0.56, P = 0.01; r = 0.64, P = 0.003; r = 0.97, P < 0.0001). We found no significant correlation between SC and FC. In 27 samples from UC patients, the association of SC with FC and CRP were positive and significant (P = 0.004, estimate = 0.32; P = 0.0001, estimate = 0.002). The association between SC and symptom score was insignificant. In 49 samples from CD patients, the association between SC and CRP was significant (P = 0.02, estimate = 0.002) whereas associations between SC and FC and symptom score were insignificant.Conclusions:In the current pilot study, we found a correlation between SC and the endoscopically assessed inflammation in UC. SC may have the potential to improve disease monitoring of adolescent patients.
Change in Prevalence of Family History During Long‐term Follow‐up of Patients With Pediatric‐onset Inflammatory Bowel Disease
Authors: Capone Kristin , Rosenberg Harry J. , Wroblewski Kristen , Gokhale Ranjana , Kirschner Barbara S. 
Published: January 2019

ABSTRACTObjectives:The aim of the study was to prospectively study changes in prevalence of positive family history (FH+) in pediatric‐onset inflammatory bowel disease (IBD) in contrast to previously published cross‐sectional data.Methods:An observational cohort study was performed using a prospective pediatric‐onset IBD database including 485 patients with disease duration ≥10 years as of December 2016. Proband characteristics and FH+ were obtained at diagnosis and subsequently from the database, medical records, and follow‐up telephone interviews in 2006 and 2016.Results:Updated 2016 information was obtained from 322 (66%) patients and included in analysis with median follow‐up of 18 years (interquartile range 14, 26). Prevalence of FH+ increased from 13.7% at diagnosis to 26.6% at 20 years for first‐degree relatives and from 38.5% to 52.2% for all relatives. At 20‐year follow‐up, an additional 10.0% of probands had a sibling, 6.1% had a parent, 1.9% had a grandparent, and 4.5% had a cousin diagnosed with IBD. FH+ at diagnosis was associated with greater risk for additional FH+ at 20 years (43% vs 22%, P < 0.001). Non‐Jewish Caucasians had significantly lower risk of a FH+ compared to Jewish Caucasians (P = 0.002), but similar risk to African Americans (P = 0.55). FH+ at diagnosis was not associated with disease type (P = 0.33) or age at diagnosis (P = 0.24).Conclusions:This prospective study documents changes in family history of IBD in pediatric‐onset IBD patients over time. Prevalence of FH+ increased for first‐degree and all relatives at 20 years by 12.9% and 13.7%, respectively. FH+ at diagnosis was associated with a 2‐fold greater likelihood of subsequent FH+ at 20 years.
Congenital Portosystemic Shunts
Authors: McLin Valérie A. , Franchi Abella Stephanie , Debray Dominique , Guérin Florent , Beghetti Maurice , Savale Laurent , Wildhaber Barbara E. , Gonzales Emmanuel ,   Members of the International Registry of Congenital Porto‐Systemic Shunts
Published: January 2019

ABSTRACTCongenital portosystemic shunts are increasingly recognized in several settings and at any age. The following are some of the most common presentations: prenatal ultrasound, neonatal cholestasis, incidental finding on abdominal imaging, or systemic complications such as unexplained cardiopulmonary or neurological disease, or the presence of liver nodules in a noncirrhotic liver. The purpose of the present review is to summarize clinical presentation and current recommendations for management, and highlight areas of future research. Illustrative examples from the veterinary literature complement our current lack of knowledge of this rare malformation often masquerading as a multisystem disease.