bluuebunny/crossref_metadata_2025_split huggingface dataset:
What is in the Myopathy Literature?
Authors: Lacomis David 
Published: February 2018

Abstract
This review is focused on recent reports of sporadic inclusion body myositis (sIBM), myopathy in patients with human immunodeficiency virus type 1 (HIV) infection, and necrotizing autoimmune myopathy with antibodies to signal recognition particle. The sIBM articles cover associations with certain genetic polymorphisms, the possible pathogenic role of anti-cytosolic 5′-nucleotidase 1A antibody, and disease-related burden and health care costs. Another article addressed the possible pathogenic role of signal recognition particle antibody in necrotizing myopathy. A series of HIV patients with overlapping features of sIBM and polymyositis are highlighted as is a report of a patient with HIV and late-onset rod-body myopathy that may have improved with immunotherapy.
TIME COURSE OF CHANGES IN OPTIC DISK NEOVASCULARIZATION AFTER A SINGLE INTRAVITREAL BEVACIZUMAB INJECTION
Authors: Falavarjani Khalil Ghasemi , Habibi Abbas , Khorasani Maryam Ashraf , Anvari Pasha , Sadda Srinivas R. 
Published: February 2018

Purpose:
To evaluate the longitudinal changes in optic disk neovascularization (NVD) after intravitreal bevacizumab injection using optical coherence tomography angiography.

Methods:
In this prospective, interventional, case series, eyes with NVD secondary to diabetic retinopathy were enrolled. En face optical coherence tomography angiographic images were obtained from the optic disks before and 3 hours, 6 hours, 24 hours, 7 days, and 30 days after intravitreal bevacizumab injection. The size and flow area of the neovascularization were measured by two graders.

Results:
Eleven eyes of 9 patients with a mean age of 52.11 ± 9.48 years were included. The reduction in the NVD size and flow area was statistically significant at 24 hours, 7 days, and 30 days after injections compared with the baseline measurements (all P < 0.05). The decremental regression in the NVD size and flow area continued during the study course. The changes were not statistically significant in 3-hour and 6-hour measurements (all P > 0.05).

Conclusion:
In this study, statistically significant regression in the NVD size and flow area was observed as early as 24 hours after a single intravitreal bevacizumab injection, with a continued decreasing trend for at least a 1-month period.
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH RETINAL PIGMENT EPITHELIAL TEAR IMAGED BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY
Authors: Roizenblatt Marina , Zett Claudio , Saraiva Vinicius S. , Maia Andre , Magalhães Octaviano , Moraes Nilva S. B. 
Published: February 2018

Purpose:
To report a patient presenting a retinal pigment epithelial tear in which optical coherence tomography angiography enabled the visualization of subfoveal choroidal neovascularization (CNV) not evidenced by the fluorescein angiography. She was treated with 3 monthly intravitreous anti-VEGF injections and intraretinal fluid resolution occurred.

Methods:
Observational case report.

Results:
A 62-year-old Caucasian woman presented with decreased visual acuity in the right eye for 3 months. Fundus biomicroscopy revealed a yellowish macular lesion associated with intraretinal hemorrhage. Fluorescein angiography showed a large hyperfluorescent area consistent with window defect. Optical coherence tomography showed a retinal pigment epithelial tear with subretinal fluid. However, there was no clear evidence of CNV on fluorescein angiography or OCT. Optical coherence tomography angiography confirmed the presence of an active CNV by the visualization of the neovascular network in the region corresponding to the scrolled up retinal pigment epithelium.

Conclusion:
This case report demonstrates that optical coherence tomography angiography can be useful to confirm the presence of CNV in cases where fluorescein angiography and OCT cannot establish the diagnosis. The reported case suggests the applicability of optical coherence tomography angiography in patients in whom retinal pigment epithelial tear is detected and associated CNV is suspected.
CHOROIDAL THICKNESS CHANGES IN A PATIENT DIAGNOSED WITH CENTRAL SEROUS CHORIORETINOPATHY DURING FOLLOW-UP FOR PACHYCHOROID PIGMENT EPITHELIOPATHY
Authors: Saito Wataru , Hashimoto Yuki , Hirooka Kiriko , Ishida Susumu 
Published: February 2018

Purpose:
To evaluate chronological changes in choroidal thickness in a patient with pachychoroid pigment epitheliopathy (PPE) who was later diagnosed with central serous chorioretinopathy (CSC) during follow-up.

Methods:
Case report.

Results:
A 43-year-old man complained of metamorphopsia in the left eye. Funduscopy showed several punctate white subretinal lesions at the macula, but no macular serous retinal detachment in the left eye. Retinal pigment epithelium abnormality without serous retinal detachment at the macula on optical coherence tomography and choroidal vascular hyperpermeability on indocyanine green angiography suggested PPE in the left eye. Macular lesions disappeared with no treatment. Twenty-five months after the initial visit, PPE recurred in the left eye. Thirty-five months after the initial visit, the patient was diagnosed with CSC in the left eye. Macular serous retinal detachment spontaneously resolved. In the eye with PPE and CSC, the choroid was consistently thicker than that in the fellow eye during follow-up. The choroid became thicker during the alternate onsets of PPE and CSC and thinner after regression of these diseases.

Conclusion:
These results suggest that PPE and CSC overlap clinically and choroidal thickening is involved in the pathogenesis of both diseases.
RETINOCYTOMA WITH VITREOUS SEEDING: NEW INSIGHTS FROM ENHANCED DEPTH IMAGING OPTICAL COHERENCE TOMOGRAPHY AND HIGH-RESOLUTION POSTERIOR SEGMENT ULTRASONOGRAPHY
Authors: Garoon Robert B. , Medina Carlos A. , Scelfo Christina , Harbour J. William 
Published: February 2018

Purpose:
To report an atypical case of a patient with symptomatic retinocytoma associated with diffuse calcified vitreous seeds.

Methods:
Retrospective chart review.

Results:
A 46-year-old healthy woman presented with a history of floaters in the right eye for several months. She had been referred for abnormal findings in the retina and vitreous on routine examination. Visual acuity was 20/20. An incidental retinocytoma associated with extensive calcified vitreous seeding was observed. Enhanced depth optical coherence tomography showed an absence of normal retinal layers with numerous cystoid cavities throughout the lesion. High-resolution 20-MHz posterior B-scan ultrasonography demonstrated that the calcified vitreous seeds emanated from the peaked portion of the retinal tumor.

Conclusion:
Calcified vitreous seeding is a rare finding associated with retinocytomas. Enhanced depth imaging optical coherence tomography and high-resolution B-scan ultrasonography may be useful tools in the diagnosis of this uncommon retinal tumor.
Murine Typhus in South Texas Children
Authors: Howard Ashley , Fergie Jaime 
Published: February 2018

Background:
Murine typhus is a zoonotic infection caused by Rickettsia typhi that remains endemic in South Texas. In 2003, only 9 Texas counties reported murine typhus compared with 41 counties in 2013.

Methods:
A retrospective study of children discharged with a confirmed diagnosis of murine typhus from Driscoll Children’s Hospital between January 1998 and September 2016.

Results:
Two hundred thirteen children (113 female) 3 months through 19 years of age (mean, 11.2 ± 4.5 years) were identified. Cases occurred throughout the year. Children were admitted after a mean of 7.7 ± 5.3 days of fever. The most common symptoms were fever (100%), poor appetite (71.9%), malaise/fatigue (69.0%) and headache (67.6%). The most common laboratory abnormalities were elevated C-reactive protein, hypoalbuminemia, elevated erythrocyte sedimentation rate, elevated transaminases and elevated band count with normal total white blood cell count. Children defervesced in a mean of 31.87 ± 21.36 hours after initiation of doxycycline. Hospitalization lasted for a mean of 2.7 ± 1.8 days when children were administered doxycycline within 24 hours of admission compared with, 4.1 ± 1.8 days, P ≤ 0.0001 when started later. Eleven patients (5.1%) were admitted to the pediatric intensive care unit and were older, P = 0.0009. No children died.

Conclusions:
Murine typhus is endemic in South Texas. Children who were treated earlier with doxycycline had a shorter hospitalization than were those who began therapy later. Recognition of murine typhus is important to prevent delay in treatment and development of complications.
Genetic variation in P2RX7 and pain tolerance
Authors: Kambur Oleg , Kaunisto Mari A. , Winsvold Bendik S. , Wilsgaard Tom , Stubhaug Audun , Zwart John A. , Kalso Eija , Nielsen Christopher S. 
Published: February 2018

Abstract
P2X7 is a nonselective cation channel activated by extracellular ATP. P2X7 activation contributes to the proinflammatory response to injury or bacterial invasion and mediates apoptosis. Recently, P2X7 function has been linked to chronic inflammatory and neuropathic pain. P2X7 may contribute to pain modulation both by effects on peripheral tissue injury underlying clinical pain states, and through alterations in central nervous system processing, as suggested by animal models. To further test its role in pain sensitivity, we examined whether variation within the P2RX7 gene, which encodes the P2X7 receptor, was associated with experimentally induced pain in human patients. Experimental pain was assessed in Tromsø 6, a longitudinal and cross-sectional population-based study (N = 3016), and the BrePainGen cohort, consisting of patients who underwent breast cancer surgery (N = 831). For both cohorts, experimental pain intensity and tolerance were assessed with the cold-pressor test. In addition, multisite chronic pain was assessed in Tromsø 6 and pain intensity 1 week after surgery was assessed in BrePainGen. We tested whether the single-nucleotide polymorphism rs7958311, previously implicated in clinical pain, was associated with experimental and clinical pain phenotypes. In addition, we examined effects of single-nucleotide polymorphisms rs208294 and rs208296, for which previous results have been equivocal. Rs7958311 was associated with experimental pain intensity in the meta-analysis of both cohorts. Significant associations were also found for multisite pain and postoperative pain. Our results strengthen the existing evidence and suggest that P2X7 and genetic variation in the P2RX7-gene may be involved in the modulation of human pain sensitivity.
Characteristics of patients with hepatitis C virus-related chronic liver diseases just before the era of oral direct-acting antiviral therapy in Italy
Authors: Sagnelli Evangelista , Stroffolini Tommaso , Sagnelli Caterina , Cacopardo Bruno , Andriulli Angelo , Babudieri Sergio , Coppola Nicola , Gaeta Giovanni B. , Almasio Piero L. 
Published: February 2018

Background
In 2017, oral direct-acting antiviral (DAA) therapy for chronic hepatitis C virus (HCV) infection became available free of charge for all HCV-RNA-positive patients, irrespective of their fibrosis stage.

Aim
The aim of this study was to evaluate the characteristics of HCV-related chronic liver disease (CLD) in Italy just before the introduction of DAA therapy.

Patients and methods
Patients with CLD were enrolled in two national surveys conducted in 2001 and in 2014. The two surveys prospectively enrolled patients aged older than 18 years referring to Italian liver units throughout the country using a similar clinical approach and analytical methods.

Results
Out of the 12 564 patients enrolled, 8447 (67.3%) were anti-HCV-positive, with a decreasing trend from 69.0% in 2001 to 60.4% in 2014. During this period, an increasing trend over time was observed in the mean age of patients (55.6 vs. 59.1 years; P<0.01), in the proportion of patients with liver cirrhosis (19.4 vs. 28.2%; P<0.01), and in the circulation of genotype 4 (0 vs. 6.1%). The multiple logistic analysis showed that age older than 60 years, birth in southern Italy, and multiple etiology (HCV+hepatitis B virus or HCV+alcohol) are independent predictors of a likelihood of liver cirrhosis, whereas a higher level of education plays a protective role (odds ratio: 0.65; 95% confidence interval=0.57–0.76).

Conclusion
Currently, in Italy, chronic HCV infection plays a decreasing role in CLD, showing a shift toward older age groups and a more severe disease stage. These data, relating to just before the era of DAA therapy for this infection, represent up-to-date reference data for evaluating the effectiveness of DAAs in the future.
Clinical manifestations of sickle cell disease in India: misconceptions and reality
Authors: Jain Dipty , Mohanty Dipika 
Published: February 2018

Purpose of review
In the past, milder clinical manifestations of sickle cell disease (SCD) have been described from India. However, recent data from some parts of India suggest that the severity of the disease can be compared to that of African phenotypes. This review therefore describes the varied clinical manifestation of SCD, the success of newborn screening programme, prenatal diagnosis and low dose hydroxyurea therapy in India.

Recent findings
The varied clinical manifestations such as anemia, vaso-occlusive crisis, acute chest syndrome, renal involvement, stroke and so on vary from one part of the country to the other and also among different communities of India. Strategies for improving quality of life and controlling of SCD have been suggested. Certain factors other than genetics also play an important role in clinical manifestation of the disorder.

Summary
The clinical diversity of SCD is described. The natural history of SCD in India is unfolding from newborn screening programme. The use of low-dose hydroxy urea therapy both in adults and children has brought down the incidences of crisis and provides great relief to the patients. The tailor-made programme for India as regards the control and management has been discussed.
Genetic Variants Associated With Obesity and Insulin Resistance in Hispanic Boys With Nonalcoholic Fatty Liver Disease
Authors: Rausch John C. , Lavine Joel E. , Chalasani Naga , Guo Xiuqing , Kwon Soonil , Schwimmer Jeffrey B. , Molleston Jean P. , Loomba Rohit , Brunt Elizabeth M. , Chen Yii‐Der Ida , Goodarzi Mark O. , Taylor Kent D. , Yates Katherine P. , Rotter Jerome I. ,   NASH Clinical Research Network
Published: February 2018

ABSTRACTBackground and Objectives:Nonalcoholic fatty liver disease (NAFLD) disproportionately affects Hispanic boys. Further, obesity and insulin resistance are major risk factors for NAFLD. No gene localization studies had been performed on children with biopsy‐proven NAFLD. This study aims to identify genomic variants associated with increased adiposity and insulin resistance in a population of children with varying histologic severity of NAFLD.Methods:We conducted a genome‐wide association scan (GWAS) including 624,297 single‐nucleotide polymorphisms (SNPs) distributed among all 22 autosomal chromosomes in 234 Hispanic boys (up to 18 years of age) who were consecutively recruited in a prospective cohort study in the Nonalcoholic Steatohepatitis Clinical Research Network Studies. Traits were examined quantitatively using linear regression. SNPs with P value <10−5 and a minor allele frequency >5% were considered potentially significant.Results:Evaluated subjects had a median age of 12.0 years, body mass index (BMI) of 31.4, and hemoglobin A1C (Hgb A1C) of 5.3. The prevalence of NAFL, borderline NASH, and definite NASH were 23%, 53%, and 22%, respectively. The GWAS identified 10 SNPs that were associated with BMI z score, 6 within chromosome 2, and 1 within CAMK1D, which has a potential role in liver gluconeogenesis. In addition, the GWAS identified 9 novel variants associated with insulin resistance: HOMA‐IR (6) and HbA1c (3).Conclusions:This study of Hispanic boys with biopsy‐proven NAFLD with increased risk for the metabolic syndrome revealed novel genetic variants that are associated with obesity and insulin resistance.
Autoimmune Hepatitis in Children and Adolescents
Authors: Trevizoli Isadora de Carvalho , Pinedo Carolina Silva , Teles Vanessa Oliveira , Seixas Renata Belém Pessoa de Melo , de Carvalho Elisa 
Published: February 2018

ABSTRACTObjectives:The aim of this study was to evaluate the effect of autoimmune hepatitis (AIH) on the quality of life of children and adolescents and to identify which variables effect health‐related quality of life (HRQoL).Methods:The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0) was used to evaluate HRQoL. In addition, a questionnaire was applied which included signs, symptoms, and use of medications.Results:A total of 43 patients (mean age, 15.0 ± 3.9 years; 65.1% girls; 90.7% with type 1 AIH) was evaluated. Advanced liver disease was present in 30.2%, and 18.6% had sclerosing cholangitis. Treatment was effective in 93.1% of patients. The lowest HRQoL scores were associated with the school (67.7), emotional (68.2), and psychosocial (75.5) domains. Compared with healthy children, patients presented lower scores on the total, psychosocial, emotional, and school domains (P < 0.05). The presence of symptoms (β = 0.39, P < 0.01), extrahepatic autoimmune diseases (β = 0.27, P < 0.05), and a dislike of taking medication (β = 0.40, P < 0.01) negatively affected the psychosocial PedsQL 4.0 score, and the presence of symptoms (β = 0.40, P < 0.01) negatively affected the total PedsQL 4.0 score.Conclusions:AIH has a significant and negative effect on HRQoL among children and adolescents. The presence of symptoms, extrahepatic autoimmune diseases, and a dislike of taking medication were associated with the worsening of HRQoL. Providers should work with professionals trained to improve QoL to help improve treatment adherence and disease outcomes.
Clinical and Imaging Predictors of Surgical Splenorenal Shunt Dysfunction in Pediatric Patients
Authors: Woerner Andrew , Shivaram Giri , Koo Kevin S.H. , Hsu Evelyn K. , Dick Andre A.S. , Monroe Eric J. 
Published: February 2018

ABSTRACTPurpose:Few established criteria exist to prompt angiographic evaluation and intervention for surgically created splenorenal shunts (SRS). Clinical and Doppler ultrasound (DUS) imaging predictors of shunt dysfunction were evaluated in this retrospective study.Materials and Methods:Consecutive patients undergoing SRS angiography over a 10‐year period were retrospectively identified. Preangiography platelet count and DUS measurements of spleen diameter, maximum splenic vein velocity, and maximum shunt velocity were assessed and compared to findings at subsequent catheter angiography.Results:Twenty‐six SRS angiograms were performed in 16 patients. Two of the 26 procedures were excluded from analysis due to insufficient baseline preangiography clinical and DUS data. In the remaining 24 cases, significant stenosis/occlusion was confirmed at angiography in 20, whereas wide patency was seen in 4. For the 20 cases of angiographically confirmed significant stenosis/occlusion, when compared to baseline post‐SRS creation to immediate preangiography evaluation there was a greater decrease in platelet count (−51.8% vs −19.4%), a greater increase in spleen diameter (+13.4% vs +3.7%), a greater increase in maximum shunt velocity (+74.7% vs +59.7%), and a greater decrease in splenic vein velocity (−25.0% vs −18.5%).Conclusion:Clinical evidence of splenic sequestration and DUS finding of increased maximum shunt velocity correlate with angiographic findings of SRS dysfunction and could be used to help predict the need for shunt intervention.
Rectal Picking Masquerading as Inflammatory Bowel Disease in Prader‐Willi Syndrome
Authors: Salehi Parisa , Lee Dale , Ambartsumyan Lusine , Sikka Natalie , Scheimann Ann O. 
Published: February 2018

ABSTRACTPrader‐Willi syndrome (PWS) is a genetic syndrome in which individuals have multisystem medical challenges. Gastroenterological difficulties in the syndrome include decreased vomiting, constipation, delayed gastric emptying, delayed colonic transit, dysphagia, increased choking, and increased risk of gastric dilation and rupture. In addition, self‐injurious behavior such as rectal picking may be present and severe enough to lead to rectal ulceration and bleeding. Many patients have extensive gastroenterological workup and treatment before their ultimate diagnosis of severe rectal picking. We describe 4 new cases of rectal picking in individuals with PWS leading to rectal bleeding and ulceration as well as a review of the literature of prior cases of severe rectal picking in PWS and potential treatment options. It is important to recognize these cases early in order to prevent unnecessary treatments and implement appropriate behavioral interventions.
Developing a Topology of Syphilis in the United States
Authors: Bernstein Kyle T. , Grey Jeremy , Bolan Gail , Aral Sevgi O. 
Published: February 2018

Background
In the United States, reported rates of syphilis continue to increase. Co-occurring epidemics of syphilis among men who have sex with men (MSM) and heterosexual populations create challenges for the prioritization of resources and the implementation of context-specific interventions.

Methods
State was the unit of analysis and was restricted to the 44 states with the most complete data of sex or sex partners for their reported adult syphilis cases. States were classified as high, medium, or low for reported congenital syphilis (CS) and MSM primary and secondary (P&S) syphilis rates. Average values of a range of ecologic state level variables were examined among the 9 categories created through the cross-tabulation of CS and MSM P&S syphilis rates. Patterns among ecologic factors were assessed across the 9 categories of states' syphilis rates.

Results
Among the 44 states categorized, 4 states had high rates of both CS and MSM P&S syphilis in 2015, whereas 12 states fell into the medium/medium category and 7 into the low category. Six states had high CS and medium MSM syphilis and 4 states had medium CS but high MSM syphilis. Several area-level factors, including violent crime, poverty, insurance status, household structure and income, showed qualitative patterns with higher rates of CS and MSM P&S syphilis. Higher proportions of urban population were found among states with higher CS rates; no trend was seen with respect to urbanity and MSM P&S syphilis.

Conclusions
Several area-level factors were associated with CS and MSM P&S syphilis in similar ways, whereas other ecologic factors functioned differently with respect to the 2 epidemics. Explorations of community and area-level factors may shed light on novel opportunities for population specific prevention of syphilis.
Fatal Diesel Poisoning
Authors: Srinivasa Murthy Abilash , Das Siddhartha , Bheemanathi Hanuman Srinivas 
Published: February 2018

Abstract
Hydrocarbons are volatile substances that are used in routine life activities for cooking or as automobile fuel. Diesel is one of the commonly used automobile fuels obtained from crude oil. Death due to poisoning by diesel is rarely reported. Most commonly affected is the respiratory system either after aspiration or ingestion. The most common presentation is chemical pneumonitis or aspiration pneumonitis from which patient usually recovers. Gas chromatography techniques help in the detection of volatile substances like diesel. Here, we report a rare case of fatal pediatric accidental diesel poisoning.