bluuebunny/crossref_metadata_2025_split huggingface dataset:
Growth-Friendly Spine Surgery in Escobar Syndrome
Authors: Margalit Adam , Sponseller Paul D. , McCarthy Richard E. , Pawelek Jeff B. , McCullough Lynn , Karlin Lawrence I. , Shirley Eric D. , Schwend Richard M. , Samdani Amer F. , Akbarnia Behrooz A. 
Published: January 2019

Background:
The aims of this study were to characterize the spinal deformity of patients with Escobar syndrome, describe results of growth-friendly treatments, and compare these results with those of an idiopathic early-onset scoliosis (EOS) cohort to determine whether the axial stiffness in Escobar syndrome limited correction.

Methods:
We used 2 multicenter databases to review the records of 8 patients with EOS associated with Escobar syndrome who had at least 2-year follow-up after initiation of growth-friendly treatment from 1990 to 2016. An idiopathic EOS cohort of 16 patients matched for age at surgery (±1 y), postoperative follow-up (±1 y), and initial curve magnitude (±10 degrees) was identified. A randomized 1:2 matching algorithm was applied (α=0.05).

Results:
In the Escobar group, spinal deformity involved 7 to 13 vertebrae and ranged from no vertebral anomalies in 3 patients to multiple segmentation defects in 6 patients. Mean age at first surgery was 5 years (range, 1.4 to 7.8 y) with a mean follow-up of 7.5 years (range, 4.0 to 10 y). Mean major curve improved from 76 degrees at initial presentation, to 43 degrees at first instrumentation, to 37 degrees at final follow-up (both P<0.001). Mean pelvic obliquity improved from 16 degrees (range, 5 to 31 degrees) preoperatively to 4 degrees (range, 0 to 8 degrees) at final follow-up (P=0.005). There were no differences in the mean percentage of major curve correction between the idiopathic EOS and Escobar groups at the immediate postoperative visit (P=0.743) or final follow-up (P=0.511). There were no differences between the cohorts in T1-S1 height at initial presentation (P=0.129) or in growth per month (P=0.211).

Conclusions:
Multiple congenital fusions and spinal curve deformity are common in Escobar syndrome. Despite large areas of congenital fusion, growth-friendly constructs facilitate spinal growth and improve curve correction. These results are comparable to those in idiopathic EOS.

Level of Evidence:
Level III—case-control study.
Nonarticular Base and Shaft Fractures of Children’s Fingers: Are Follow-up X-rays Needed? Retrospective Study of Conservatively Treated Proximal and Middle Phalangeal Fractures
Authors: Vonlanthen Janine , Weber Daniel M. , Seiler Michelle 
Published: January 2019

Background:
Phalangeal fractures of the hand are common in children, and most extra-articular fractures can be treated with nonoperative management. Minimally or nondisplaced fractures may simply be immobilized, whereas displaced fractures need closed reduction before immobilization. Although few of these fractures displace secondarily, most schemes currently recommend follow-up x-rays after initial diagnosis. Our primary objective was to identify subgroups of finger fractures that are stable, thus requiring no radiographic monitoring.

Methods:
This study was designed as a retrospective, single-center analysis of conservatively treated pediatric finger fractures of the proximal and middle phalanges. We included patients up to 16 years with base or shaft fractures of the index to little fingers who underwent nonoperative treatment and standardized follow-up controls in our pediatric hand surgery outpatients’ clinic between 2010 and 2016. Fracture angular deformity in x-rays taken at diagnosis and after 1 and 3 weeks were reassessed blinded, and a statistical analysis was conducted to identify fracture types that are prone to secondary angular deformity.

Results:
A total of 478 patients were eligible; 113 were lost due to missing final radiographic controls. Overall, 365 patients were analyzed; they had a mean age of 9.7 years (range, 1 to 16), and 33.4% required a primary closed reduction. A secondary angular deformity occurred in 2.2% (8/365) of all finger fractures. No secondary angulation occurred in primary minimally and nondisplaced fractures, but 6.6% (8/122) of the reduced fractures showed a subsequent loss of reduction.

Conclusions:
Minimally angulated (<10 degrees) and nondisplaced metaphyseal and diaphyseal fractures of proximal and middle phalanges of the index to little fingers are stable and therefore do not need radiographic follow-ups. However, initially angulated fractures requiring closed reduction bear a risk of subsequent loss of reduction.

Level of Evidence:
Level III—retrospective study.
Maternal Feeding Practices, Health Cognitions, and Children's Eating Styles and Weight Status
Authors: Camfferman Roxanna , Van der Veek Shelley Maria Cornelia , Rippe Ralph Christian Alexander , Mesman Judi 
Published: January 2019

ABSTRACT:

Objective:
To examine the relationship between maternal cognitions related to promoting a healthy lifestyle in their child, maternal feeding practices, children's eating styles, and child weight status in children aged 4 to 6 years.

Methods:
Cross-sectional questionnaire data were collected in 251 Dutch mothers of preschoolers. Structural equation modeling was used to test the fit of a model that assumed maternal health cognitions would predict maternal feeding practices, which in turn would predict children's eating styles and child weight status. Explorative analyses were conducted to examine child characteristics as predictors of maternal health cognitions and feeding practices.

Results:
Mothers with higher self-efficacy used fewer pressure-to-eat feeding techniques, which in turn was related to less avoidant eating styles in children. In addition, mothers who perceived more benefits of a healthy lifestyle used more restriction techniques, which in turn predicted a more approach-oriented eating style in children, which was also related to higher child standard deviation scores body mass index. Finally, children with an avoidant eating style had mothers who perceived more barriers and reported less self-efficacy.

Conclusion:
Self-efficacy and perceived benefits relate to maternal feeding practices and eating styles of the child. However, more perceived benefits of a healthy lifestyle were associated with inadequate feeding practices. Therefore, interventions targeted at mothers to reduce child overweight should focus not only on reinforcing perceived benefits of a healthy lifestyle but also on how the mother can translate her attitudes into adaptive parenting to achieve the desired health outcomes.
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study
Authors: El Hachem Noha , Abadie Caroline , Longy Michel , Colas Chrystelle , Fert-Ferrer Sandra , Leroux Dominique , Grandval Philippe , Prieur Fabienne , Collonge-Rame MarieAgnes , Faivre Laurence , Fricker Jean-Pierre , Zerbib Frank , Coupier Isabelle , Cauchin Estelle , Pinson Stephane , Saurin Jean Christophe 
Published: January 2019

BACKGROUND:
Almost no prospective data on endoscopy in MUTYH monoallelic carriers are available.

OBJECTIVE:
This study aimed to define the prevalence of colorectal and duodenal adenomas in a population of people presenting with a single mutation of the MUTYH gene and being first-degree relatives of biallelic MUTYH mutation carriers.

DESIGN:
This study is a prospective cohort evaluation.

PATIENTS:
Patients were first-degree relatives of a patient who had polyposis with biallelic MUTYH mutation and carrying a single gene mutation of the gene from 12 French centers.

SETTINGS:
This is a multicenter study.

INTERVENTION:
Detailed data on life habits (tobacco, alcohol, and nonsteroidal anti-inflammatory drugs), extraintestinal manifestations, and germline analysis were recorded. Complete endoscopic evaluation (colonoscopy and upper endoscopy) with chromoendoscopy was performed.

RESULTS:
Sixty-two patients were prospectively included (34 women (55%), mean age of 54, range 30–70 years). Thirty-two patients (52%) presented with colorectal polyps at colonoscopy. Of these patients with polyps, 15 (25%) had only adenomas, 8 (13%) had only hyperplastic polyps, 1 (1%) had sessile serrated adenomas, and 8 (13%) had adenomas and/or sessile serrated adenomas. We detected, in total, 29 adenomas with low-grade dysplasia, 5 adenomas with high-grade dysplasia, and 6 sessile serrated adenomas. Fourteen patients (23%) presented with a single adenoma, and 10 (16%) had 1 to 5 adenomas. No patient had more than 5 adenomas. At upper endoscopy, 3 had a limited number of fundic gland polyps; none had duodenal adenomas. The 2 main missense mutations c.1145G>A, p.Gly382Asp and c.494A>G, p.Tyr165Cys were associated with the development of colorectal adenomas/serrated polyps in these monoallelic carriers.

LIMITATIONS:
This study was limited by the small number of patients.

CONCLUSIONS:
This prospective study provides unique prospective data suggesting that monoallelic mutation carriers related to patients with polyposis show no colorectal polyposis and have very limited upper GI manifestations justifying an endoscopic follow-up. See Video Abstract at http://links.lww.com/DCR/A862.
Implications of Aging in Plastic Surgery
Authors: Roh Danny S. , Panayi Adriana C. , Bhasin Shalender , Orgill Dennis P. , Sinha Indranil 
Published: January 2019

Summary:
Given the rapidly aging population, investigating the effect of age on plastic surgery outcomes is imperative. Despite this, the topic has received relatively little attention. Furthermore, there appears to be little integration between the basic scientists investigating the mechanisms of aging and the plastic surgeons providing the majority of “antiaging” therapies. This review first provides a description of the effects and mechanisms of aging in 5 types of tissue: skin, adipose tissue, muscles, bones and tendons, and nervous tissue followed by an overview of the basic mechanisms underlying aging, presenting the currently proposed cellular and molecular theories. Finally, the impact of aging, as well as frailty, on plastic surgery outcomes is explored by focusing on 5 different topics: general wound healing and repair of cutaneous tissue, reconstruction of soft tissue, healing of bones and tendons, healing of peripheral nerves, and microsurgical reconstruction. We find mixed reports on the effect of aging or frailty on outcomes in plastic surgery, which we hypothesize to be due to exclusion of aged and frail patients from surgery as well as due to outcomes that reported no postsurgical issues with aged patients. As plastic surgeons continue to interact more with the growing elderly population, a better appreciation of the underlying mechanisms and outcomes related to aging and a clear distinction between chronological age and frailty can promote better selection of patients, offering appropriate patients surgery to improve an aged appearance, and declining interventions in inappropriate patients.
Associations between Orofacial Clefting and Neonatal Abstinence Syndrome
Authors: Mullens Cody L. , McCulloch Ian L. , Hardy Kristen M. , Mathews Russell E. , Mason A. Corde 
Published: January 2019

Background:
Orofacial clefting (OFC) is the most common developmental craniofacial malformation, and causal etiologies largely remain unknown. The opioid crisis has led to a large proportion of infants recovering from neonatal abstinence syndrome (NAS) due to in-utero narcotics exposure. We sought to characterize the prevalence of OFC in infants with NAS.

Methods:
This cohort study analyzed live births at our institution from 2013 to 2017 to identify any association between OFC and NAS.

Results:
Prevalence of OFC was 6.79 and 1.63 (per 1,000 live births) in the NAS and general population, respectively. Odds ratios for NAS patients having developed OFC, isolated cleft palate, isolated cleft lip, and combined cleft lip and palate compared with the general population were found to be 4.18 (P = 0.001), 5.92 (P = 0.001), 3.79 (P = 0.05), and 2.94 (P = 0.35), respectively. Analyses performed comparing the NAS and general populations to control for potential confounding variables influencing the NAS population yielded no significant differences with exception of in-utero exposure to physician prescribed opioids.

Conclusions:
Prevalence of OFC in infants with NAS was higher than the general live birth population. Isolated cleft palate and isolated cleft lip, specifically, were significantly more prevalent in NAS patients compared with the general population and were associated with in-utero opioid exposure.
Epi-Bowman Blunt Keratectomy Versus Diluted EtOH Epithelial Removal in Myopic Photorefractive Keratectomy: A Prospective Contralateral Eye Study
Authors: Vingopoulos Filippos , Kanellopoulos Anastasios John 
Published: January 2019

Purpose:
To compare the outcomes and complications of Epi-Bowman blunt keratectomy (EBK) using a blunt epikeratome (Epi-Clear, Orca Surgical, Israel), with alcohol delamination of the corneal epithelium during photorefractive keratectomy (PRK) in contralateral eyes.

Methods:
This prospective, randomized contralateral eye study included 44 eyes of 22 patients undergoing PRK for bilateral myopia or myopic astigmatism. In each patient, epithelial delimitation was performed using an Epi-Clear epikeratome EBK (EBK group) on 1 eye and diluted ethanol (EtOH) on the fellow eye (EtOH group). Postoperative pain, epithelial healing, epithelial profile, and visual outcome were compared between the 2 groups.

Results:
The mean postoperative pain scores were 0.37 ± 0.25 for the EBK group and 0.82 ± 0.22 for the EtOH group (P = 0.043). The mean epithelial defect size at day 3 postoperatively was 1.61 ± 1.46 and 2.25 ± 1.69 mm2, respectively (P = 0.034). The postoperative 3-month remaining mean spherical equivalent was 0.04 ± 0.49 diopters for the EBK group and 0.21 ± 0.26 D for the EtOH group (P = 0.520). There was no significant difference in UCVA and BCVA between the groups.

Conclusions:
Our data suggest that this novel EBK device and technique may minimize postoperative pain, accelerate re-epithelialization, and offer earlier visual recovery, compared with EtOH when used for myopic PRK.
Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
Authors: Park Do Young , Cho Sung Yoon , Jin Dong-Kyu , Kee Changwon 
Published: January 2019

Purpose:
We aimed to present a comprehensive assessment of the ophthalmic characteristics of genetically confirmed oculodentodigital dysplasia (ODDD) in 4 members of a single Korean family across 3 generations.

Patients and Methods:
The characteristics of 4 affected ODDD patients were evaluated. Comprehensive ophthalmic and medical examinations were performed in 3 patients including the proband, together with genetic analysis, and retrospective chart review was conducted for an affected ancestor. For genetic analysis, targeted gene panel sequencing was conducted using genomic DNA extracted from peripheral blood.

Results:
All affected individuals in this family showed shared ophthalmic abnormalities of microcornea, microphthalmia, elevated intraocular pressure, and shallow anterior chamber, all of which have been reported as typical ocular features of ODDD. Myopic refractive error despite short axial length and thick cornea were highlighted as new findings of ODDD. Facial abnormalities were common in all affected members, but their fingers were normal. Severity of glaucoma was different among the affected individuals and seemed to depend on elevation of intraocular pressure, which occurred in narrow, but open-angle. Genetic analysis revealed the presence of c.119C>T (p.Ala40Val) in GJA1, which is responsible for ODDD, but not found in the control population.

Conclusions:
This report describes detailed ocular characteristics in a genetically confirmed ODDD family, including unreported findings of thick cornea and myopic refractive error despite short axial length. The ocular features derived from the A40V mutation in GJA1 showed complete penetrance, suggesting a possible role of Cx43 in regulation of IOP and pathogenesis of glaucoma.
Improving Colorectal Cancer Screening Rates in Patients Referred to a Gastroenterology Clinic
Authors: Bick Benjamin L. , El-Halabi Mustapha , Jones Keaton R. , Kahi Charles J. , Fayad Nabil F. 
Published: January 2019

ABSTRACT
Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer-related death in the United States. Colonoscopy and fecal immunochemistry testing (FIT) are the primary recommended CRC screening modalities. The purpose of this study is to improve rates of CRC screening in Veterans and County hospital patients referred to gastroenterology fellow's clinics. A total of 717 patients between ages of 49 and 75 years were seen. Previous CRC screening was not performed in 109 patients (15.2%) because of not being offered (73.4%) or declining (26.6%) screening. Patients who received previous CRC screening compared with no previous screening were older (mean age 62.3 years vs. 60.3 years, p < .003), white (88.6% vs. 78.3%, p < .027), and more likely to be Veterans patients (90.8% vs. 77.5%, p < .001). After systematically discussing options for screening with 78 of the 109 unscreened patients, 56 of them (71.8%) underwent screening with either colonoscopy (32) or FIT (24). Patients seen by fellows in their last year of training agreed to undergo screening more often than those seen by other fellows (100% vs. 66.2%, p < .033). Systematic discussions about both colonoscopy and FIT can improve the overall rates of CRC screening.
Chylomicron retention disease: genetics, biochemistry, and clinical spectrum
Authors: Levy Emile , Poinsot Pierre , Spahis Schohraya 
Published: January 2019

Purpose of review
Chylomicron retention disease (CRD) is an autosomic recessive disorder, in which intestinal fat malabsorption is the main cause of diverse severe manifestations. The specific molecular defect was identified in 2003 and consists of mutations in the SAR1B or SARA2 gene encoding for intracellular SAR1B GTPase protein. The aim of this review is first to provide an update of the recent biochemical, genetic and clinical findings, and second to discuss novel mechanisms related to hallmark symptoms.

Recent findings
CRD patients present with SAR1B mutations, which disable the formation of coat protein complex II and thus blocks the transport of chylomicron cargo from the endoplasmic reticulum to the Golgi. Consequently, there is a total absence of chylomicron and apolipoprotein B-48 in the blood circulation following a fat meal, accompanied by a deficiency in liposoluble vitamins and essential fatty acids. The recent discovery of Transport and Golgi organization and Transport and Golgi organization-like proteins may explain the intriguing export of large chylomicron, exceeding coat protein complex II size. Hypocholesterolemia could be accounted for by a decrease in HDL cholesterol, likely a reflection of limited production of intestinal HDL in view of reduced ATP-binding cassette family A protein 1 and apolipoprotein A-I protein. In experimental studies, the paralog SAR1A compensates for the lack of the SAR1B GTPase protein.

Summary
Molecular testing for CRD is recommended to distinguish the disease from other congenital fat malabsorptions, and to early define molecular aberrations, accelerate treatment, and prevent complications.
Clinical Practice Approach to Nonalcoholic Fatty Liver Disease by Pediatric Gastroenterologists in the United States
Authors: Shapiro Warren L. , Yu Elizabeth L. , Arin Jennifer C. , Murray Karen F. , Ali Sabina , Desai Nirav K. , Xanthakos Stavra A. , Lin Henry C. , Alkhouri Naim , Abdou Reham , Abrams Stephanie H. , Butler Megan W. , Faasse Sarah A. , Gillis Lynette A. , Hadley Timothy A. , Jain Ajay K. , Kavan Marianne , Kordy Kattayoun , Lee Peter , Panganiban Jennifer , Pohl John F. , Potter Carol , Rudolph Bryan , Sundaram Shikha S. , Joshi Shivali , Proudfoot James A. , Goyal Nidhi P. , Harlow Kathryn E. , Newton Kimberly P. , Schwimmer Jeffrey B. 
Published: January 2019

ABSTRACTObjectives:Nonalcoholic fatty liver disease (NAFLD) is common; however, no information is available on how pediatric gastroenterologists in the United States manage NAFLD. Therefore, study objectives were to understand how pediatric gastroenterologists in the US approach the management of NAFLD, and to identify barriers to care for children with NAFLD.Methods:We performed structured one‐on‐one interviews to ascertain each individual pediatric gastroenterologist's approach to the management of NAFLD in children. Responses were recorded from open‐ended questions regarding screening for comorbidities, recommendations regarding nutrition, physical activity, medications, and perceived barriers to care.Results:Response rate was 72.0% (486/675). Mean number of patients examined per week was 3 (standard deviation [SD] 3.5). Dietary intervention was recommended by 98.4% of pediatric gastroenterologists. Notably, 18 different dietary recommendations were reported. A majority of physicians provided targets for exercise frequency (72.6%, mean 5.6 days/wk, SD 1.6) and duration (69.9%, mean 40.2 minutes/session, SD 16.4). Medications were prescribed by 50.6%. Almost one‐half of physicians (47.5%) screened for type 2 diabetes, dyslipidemia, and hypertension. Providers who spent more than 25 minutes at the initial visit were more likely to screen for comorbidities (P = 0.003). Barriers to care were reported by 92.8% with 29.0% reporting ≥3 barriers.Conclusions:The majority of US pediatric gastroenterologists regularly encounter children with NAFLD. Varied recommendations regarding diet and exercise highlight the need for prospective clinical trials. NAFLD requires a multidimensional approach with adequate resources in the home, community, and clinical setting.
Biliary Atresia–associated Cholangitis
Authors: Ginström Daniel A. , Hukkinen Maria , Kivisaari Reetta , Pakarinen Mikko P. 
Published: January 2019

ABSTRACTObjectives:Cholangitis and bile lakes are incompletely understood complications after portoenterostomy (PE). We investigated relationships between recurrent cholangitis, bile lakes, and clinical outcomes as well as surgical management of bile lakes.Methods:In this retrospective observational single institution study medical records and imaging studies of all patients who had undergone PE for biliary atresia during 1987 to 2016 (N = 61) were reviewed. We related occurrence of cholangitis episodes with the presence of intrahepatic bile lakes, patient characteristics, and PE outcomes. Risk factors for recurrent cholangitis and bile lakes, and management of bile lakes were analyzed.Results:Despite routine antibiotic prophylaxis median of 3.0 cholangitis episodes (0.75 episodes/year) occurred in 48 (79%) patients. Intrahepatic bile lakes were discovered in 8 (13%) patients by 16 months after PE. Overall, 54% had survived with their native liver at median age of 7.3 years and 28 (46%) patients had ≥1 cholangitis episodes/year. Number and frequency of cholangitis episodes were >5 times higher among patients with bile lakes (P < 0.001). Six patients underwent Roux‐en‐Y bile lake‐jejunostomy, resulting in regression/disappearance of bile lakes and normalization of serum bilirubin in 5 with reduction of median yearly cholangitis rate from 8.8 to 1.1 (P = 0.028) and native liver survival of 6.3 (range, 1.3–17) years after the operation.Conclusions:Bile lakes are a significant risk factor for recurrent cholangitis after PE and efficiently treated by operative intestinal drainage providing prolonged jaundice‐free native liver survival. Bile lakes should be actively screened among patients presenting with recurrent cholangitis after PE.