bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biophysical and rheological biomarkers of red blood cell physiology and pathophysiology
Authors: Gurkan Umut A. 
Published: February 2021

Purpose of review
This review summarizes the significant biophysical and rheological aspects of red blood cell physiology and pathophysiology in relation to recent advances in microfluidic biomarker assays and emerging targeted or curative intent therapies.

Recent findings
Alterations in red cell biophysical properties and blood rheology have been associated with numerous hematologic and circulatory disorders. Recent advances in biomarker assays enable effective assessment of these biophysical and rheological properties in normoxia or physiological hypoxia in a clinically meaningful way. There are emerging targeted or curative therapies that aim to improve red cell pathophysiology, especially in the context of inherited hemoglobin disorders, such as sickle cell disease.

Summary
Red cell pathophysiology can be therapeutically targeted and the improvements in membrane and cellular biophysics and blood rheology can now be feasibly assessed via new microfluidic biomarker assays. Recent advances provide a new hope and novel treatment options for major red cell ailments, including inherited hemoglobin disorders, membrane disorders, and other pathologies of the red cell, such as malaria.
Genetic testing for unexplained perinatal disorders
Authors: Hays Thomas , Wapner Ronald J. 
Published: February 2021

Purpose of review
Perinatal disorders include stillbirth, congenital structural anomalies, and critical illnesses in neonates. The cause of these is often unknown despite a thorough clinical workup. Genetic diseases cause a significant portion of perinatal disorders. The purpose of this review is to describe recent advances in genetic testing of perinatal disorders of unknown cause and to provide a potential diagnostic strategy.

Recent findings
Exome and genome sequencing (ES and GS) have demonstrated that significant portions of perinatal disorders are caused by genetic disease. However, estimates of the exact proportion have varied widely across fetal and neonatal cohorts and most of the genetic diagnoses found in recent studies have been unique to individual cases. Having a specific genetic diagnosis provides significant clinical utility, including improved prognostication of the outcome, tailored therapy, directed testing for associated syndromic manifestations, referral to appropriate subspecialists, family planning, and redirection of care.

Summary
Perinatal disorders of unknown cause, with nonspecific presentations, are often caused by genetic diseases best diagnosed by ES or GS. Prompt diagnosis facilitates improved clinical care. Improvements in noninvasive sampling, variant interpretation, and population-level research will further enhance the clinical utility of genetic testing.

Video abstract

http://links.lww.com/MOP/A61
Ex-situ liver preservation with machine preservation
Authors: Lembach Jahnsen Hanns , Mergental Hynek , Perera M. Thamara P.R. , Mirza Darius F. 
Published: February 2021

Purpose of review
To summarize key studies in liver preservation published over the last 3 years and evaluate benefits and limitations of the different perfusion techniques. Selected experimental applications that may be translated to the clinical use will be also discussed.

Recent findings
Normothermic machine perfusion (NMP) has transitioned into clinical practice. Viability assessment is a reliable tool for clinical decision-making, and safety of the back-to-base approach has facilitated adoption of the technology. Data supporting well tolerated use of declined livers after NMP and new protocols selecting complex recipients aim to improve access to suitable organs. Hypothermic machine perfusion (HMP) is showing promising clinical results by decreasing biliary complications in recipients’ receiving organs donated after circulatory death (DCD) and improving early graft function in extended criteria organs. Long-term data of HMP on DCD livers shows improved graft survival over standard SCS. Novel approaches utilizing sequential HMP--NMP or ischaemia-free preservation aim to improve outcomes of extended criteria organs.

Summary
Machine perfusion for organ transplantation has become an established technique but the field is rapidly evolving. Ongoing research focuses on evaluation of the intervention efficacy and finding optimal indications to use each perfusion strategy according to graft type and clinical scenario.
Long Noncoding RNA DUXAP8 Promotes Pancreatic Carcinoma Cell Migration and Invasion Via Pathway by miR-448/WTAP/Fak Signaling Axis
Authors: Li Jia-Rong , Liu Ling , Luo Hui , Chen Ze-Guo , Wang Jian-Hua , Li Nian-Feng 
Published: February 2021

Objectives
Pancreatic carcinoma (PC) has become the fourth leading cause of cancer deaths. Long noncoding RNA DUXAP8 has also been reported to play a regulatory role in PC progression. However, its molecular mechanism in PC is not fully elucidated.

Methods
Quantitative real-time polymerase chain reaction was used to detect the levels of DUXAP8, microRNA (miR)-448, Wilms tumor 1–associating protein (WTAP), focal adhesion kinase (Fak), and matrix metallopeptidase 2/9. Western blotting was carried out to detect matrix metallopeptidase 2/9, WTAP, Fak, and p-Fak. The interaction between DUXAP8 and miR-448 as well as WTAP and miR-448 was validated by bioinformatics and dual-luciferase reporter assays. Transwell assay was used to analyze cell invasion and migration. 3-[4,5-Dimethylthiazol-2-yl]-2,5 diphenyl tetrazolium bromide assay was used to analyze cell proliferation.

Results
DUXAP8 was upregulated, whereas miR-448 was downregulated in PC tissue and cells. Meanwhile, DUXAP8 knockdown or miR-448 overexpression inhibited migration, invasion, and proliferation of PC cells. DUXAP8 directly targeted miR-448, and miR-448 directly bound to WTAP. Downregulation of miR-448 reversed the inhibition of migration and invasion of PC cells by DUXAP8 knockdown.

Conclusions
DUXAP8 sponges miR-448 to modulate migration, invasion, and proliferation of PC cells, indicating a novel mechanistic role of DUXAP8 in the regulation of PC progression.
Venous Thromboembolism in Pediatric Inflammatory Bowel Disease: A Case-Control Study
Authors: Mitchel Elana B. , Rosenbaum Sara , Gaeta Christopher , Huang Jing , Raffini Leslie J. , Baldassano Robert N. , Denburg Michelle R. , Albenberg Lindsey 
Published: February 2021

ABSTRACT

Objectives:
Inflammatory bowel disease (IBD) is associated with increased risk of venous thromboembolism (VTE). Despite this recognized risk, there are limited data and no anticoagulation guidelines for hospitalized pediatric IBD patients. The objectives of this study were to characterize pediatric IBD patients with VTE and determine risk factors.

Methods:
This was a nested case-control study comparing hospitalized children with IBD diagnosed with VTE to those without VTE over a decade at a large referral center. Standard descriptive statistics were used to describe the VTE group. Multivariable conditional logistic regression was used to assess risk factors.

Results:
Twenty-three cases were identified. Central venous catheter (CVC) presence (odds ratio [OR] 77.9; 95% confidence interval [CI]: 6.9--880.6; P < 0.001) and steroid use (OR 12.7; 95% CI: 1.3--126.4; P = 0.012) were independent risk factors. Median age at VTE was 17 years (interquartile range [IQR] 13.5--18.2), and in 48%, VTE was the indication for admission. Median duration of anticoagulation was 3.8 months (IQR 2.3--7.6), and there were no major bleeding events for patients on anticoagulation. There were no patients with known sequelae from VTE, though 22% had severe VTE that required interventions.

Conclusions:
Pediatric patients with IBD are at risk for VTE, although the absolute risk remains relatively low. The safety and efficacy of pharmacologic thromboprophylaxis needs to be further evaluated in this population with attention to risk factors, such as steroid use and presence of CVC.
Generic and Disease-specific Health-related Quality of Life in Pediatric Intestinal Failure
Authors: McCaig Jessica K. , Henry Owen S. , Stamm Danielle A. , Dorval Gaby , Hurley Alexis , Han Sam M. , Hong Charles R. , Staffa Steven J. , Modi Biren P. 
Published: February 2021

ABSTRACT

Objective:
The aim of the study was to assess overall and disease-specific health-related quality of life (hrQOL) in patients with pediatric intestinal failure (PIF) and caregivers and elucidate differences from healthy and chronic gastrointestinal (GI) illness cohorts.

Methods:
Cross-sectional study of patients with PIF and their caregivers managed at a multidisciplinary intestinal rehabilitation program using the PedsQL Generic Core and the Gastrointestinal Symptoms Module to assess generic and disease-specific hrQOL, respectively. These data were compared to established healthy and chronic GI disease controls.

Results:
A total of 53 patients (mean age 6.2 ± 3.9 years) and their caregivers were studied. Patients reported lower generic hrQOL than healthy children (73.0 vs 83.84, P < 0.001), but no difference from patients with chronic GI disease (73.0 vs 77.79). In contrast, PIF caregivers perceived similar generic hrQOL compared to a healthy cohort (78.9 vs 82.70), but higher when compared to the GI disease cohort (78.9 vs 72.74, P < 0.01). Patients with PIF and caregivers reported lower psychosocial health scores than healthy controls. Patients and caregivers reported similar disease-specific hrQOL to a cohort with chronic GI disease but significantly lower disease-specific hrQOL than a healthy cohort (P < 0.001 both groups).

Conclusions:
Patients with PIF and their caregivers have disparate perceptions of generic hrQOL when compared to healthy and chronic GI disease controls. Both patients and caregivers, however, had significantly lower scores in psychosocial health than healthy controls. In addition, disease-specific hrQOL was substantially lower than healthy controls for PIF patients and caregivers. Further investigation to expand on these findings and identify modifiable variables to improve the psychosocial health score and disease-specific factors would be of high value.
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review
Authors: Tayal Anshula , Meena Jagdish P. , Kaur Ravneet , Tanwar Pranay , Gupta Neerja , Kabra Madhulika , Kabra Sushil K. 
Published: February 2021

Background:
Cyclic neutropenia is a rare genetic disorder causing the arrest of neutrophil function and is characterized by periodic neutropenia and recurrent infections. Patients with cyclic neutropenia with autosomal dominant, sporadic, and X-linked may have mutations in the ELANE gene, and autosomal recessive cases have homozygous/compound heterozygous variants in the HAX1 gene primarily.

Observation:
The authors describe a novel variant in the HAX1 gene, which was detected by next-generation sequencing in an 8-year-old male child who presented with recurrent infections and neutropenia.

Conclusion:
The patient extends the clinical variability associated with HAX1 variants and highlights the importance of genetic investigations in patients with suspected cyclic neutropenia.
Personality Disorders as a Basis for Discharge and Denial of Benefits in the Military
Authors: Dean Charles E. 
Published: February 2021

Abstract
The US Department of Defense specifically states that intellectual disability and personality disorders are not diseases for compensation purposes, and disabilities from them may not be service connected absent a superimposed mental disorder. In addition, the diagnosis of a personality disorder led to the discharge of 31,000 troops during the years 2001 to 2010. I review the history of these developments, and how the Diagnostic and Statistical Manual of Mental Disorders enabled these actions. In contrast, the United Kingdom and Canada do not allow such actions. Whether our approach is logical seems highly questionable, especially given the significant problems with the DSM’s definitions of personality disorders, definitions at odds with the literature.
The Accuracy of Traumatic Memories in Posttraumatic Stress Disorder
Authors: Mattsson Astrid Maria , Sonne Charlotte , Carlsson Jessica 
Published: February 2021

Abstract
This review sought to investigate the accuracy of traumatic memories in persons with a diagnosis of posttraumatic stress disorder (PTSD). PubMed, PsycINFO, and Embase were searched for articles, and 11 studies were included. Three different methods of studying memory accuracy were identified in the included articles: coherence, change in recollection of trauma over time, and remembering details of trauma. Three studies found a deficiency in the accuracy of traumatic memory. Despite some inconsistencies, most of the studies concluded that the memory of trauma is as accurate in people with as in those without PTSD. The only recurring difference identified across studies was in recollection of trauma over time. The findings are of importance both clinically and for the legal system.
National Prevalence Rates of Suicidal Ideation and Suicide Attempts Among Adults With and Without Depression
Authors: Omary Areen 
Published: February 2021

Abstract
Using the 2018 National Survey on Drug Use and Health, this study examined the US national prevalence rates of suicidal ideation (SI) and suicide attempts (SA) among four demographic adult groups (race-sex, age, education, and marital status) with and without major depressive episode (MDE). The highest prevalence rates of SI for those with and without MDE occurred among adults 18 to 25 years, with some college education, White females and males, and unmarried and never been married. Among the same demographic groups, proportions of SA were also the highest for those with MDE. A Pearson chi-square test confirmed significant associations between MDE and SI and between MDE and SA. The model fit results showed that the four variables were significant predictors of SI and SA (p < 0.05). Serious mental health needs are unmet, especially among adults with depression. Population-based clinical interventions are needed to reduce rates of depression, SI, and SA.
Impact of the COVID-19 Pandemic on the Short-Term Course of Obsessive-Compulsive Disorder
Authors: Sharma Lavanya P. , Balachander Srinivas , Thamby Abel , Bhattacharya Mahashweta , Kishore Chethana , Shanbhag Vandita , Sekharan Jaisoorya T. , Narayanaswamy Janardhanan C. , Arumugham Shyam Sundar , Reddy Janardhan Y.C. 
Published: February 2021

Abstract
There is an understandable concern that obsessive-compulsive disorder (OCD) may worsen during the COVID-19 pandemic, but there are little empirical data. We report the impact of COVID-19 pandemic on the short-term course of OCD. A cohort of patients with a primary diagnosis of OCD (n = 240) who were on regular follow-up at a tertiary care specialty OCD clinic in India were assessed telephonically, about 2 months after the declaration of the pandemic (“pandemic” cohort). Data from the medical records of an independent set of patients with OCD (n = 207) who were followed up during the same period, 1 year prior, was used for comparison (historical controls). The pandemic group and historical controls did not differ in the trajectories of the Yale-Brown Obsessive-Compulsive Scale scores (chi-square likelihood ratio test of the group × time interaction = 2.73, p = 0.255) and relapse rate (21% vs. 20%; adjusted odds ratio, 0.81; 95% confidence interval, 0.41–1.59; p = 0.535). Preexisting contamination symptoms and COVID-19–related health anxiety measured by the COVID-Threat Scale did not predict relapse. Only a small proportion of patients (6%) reported COVID-19–themed obsessive-compulsive symptoms. The COVID-19 pandemic, at least in the short run, did not influence the course of illness.
Sexually Transmitted Infection Testing Using Online Companies: Benefits, Drawbacks, and Call for Official Guidance
Authors: Cannon Chase A. , Piraino Alyssa K. , Golden Matthew R. , Barbee Lindley A. 
Published: February 2021

Abstract
In this brief case series, we outline issues with some online sexually transmitted infection services and delayed reporting of results. Commercial entities providing sexually transmitted infection testing should ensure that all results are reported to local public health jurisdictions and that procedures exist to link persons to appropriate treatment and follow-up.
Case Report: Acute Retinal Necrosis after Intravitreal Ranibizumab for Exudative Macular Degeneration
Authors: Pan Ying , Huang Xiaoli , Wu Zhifeng , Lu Shui , Chen Tiantian , Zou Wenjun 
Published: February 2021

ABSTRACT

SIGNIFICANCE
Acute retinal necrosis (ARN) may occur after intravitreal ranibizumab (IVR) treatment for patients with exudative age-related macular degeneration (AMD). Awareness of this unusual but devastating complication after IVR is needed. Early identification may help provide timely antiviral treatment and prevent irreversible visual loss.

PURPOSE
This study aimed to report a case of ARN after IVR in a patient with exudative AMD.

CASE REPORT
A 67-year-old male patient complained of blurred vision in his left eye for 1 month. The patient was diagnosed with exudative AMD after detailed ophthalmic clinical evaluations. He received IVR once in his left eye. Three days after IVR, he developed varicella-zoster virus–associated ARN, which was treated with systemic and intravitreal antiviral therapy. Because of progressive inflammation, the patient underwent 25G pars plana vitrectomy with silicone oil tamponade. Seven months later, the patient was administered intravitreal aflibercept once in his left eye. Three months after intravitreal aflibercept, he underwent removal of silicone oil, and retinal detachment occurred 2 weeks after the surgery because of low IOP, and the patient eventually discontinued treatment.

CONCLUSIONS
This study reports the first case of varicella-zoster virus–associated ARN after IVR. Early ARN may be very difficult to distinguish from intraocular inflammation after IVR. Therefore, early detection of viral DNA in the intraocular fluid using polymerase chain reaction is recommended. Immediate antiviral treatment may be beneficial to prevent severe visual loss.
Case Report: Combined Ischemic Optic Neuropathy and Central Retinal Artery Occlusion after Starting Hemodialysis
Authors: Carell Emily M. 
Published: February 2021

SIGNIFICANCE
This case highlights ocular ischemia after hemodialysis resulting in permanent vision loss. Fifteen percent of the U.S. population suffers from chronic kidney disease. Eye care providers should recommend risk factor modifications to their patients with end-stage renal disease before hemodialysis is started to prevent loss of vision.

PURPOSE
The purpose of this study was to demonstrate a case of concurrent nonarteritic anterior ischemic optic neuropathy and central retinal artery occlusion in the setting of hemodialysis initiation.

CASE REPORT
A 68-year-old Irish man with end-stage renal disease undergoing dialysis presented, complaining of 3 weeks of progressive vision loss in his left eye. His medical history is complex and includes extensive cardiac disease, bilateral carotid stenosis, and peripheral vascular disease. His surgical history includes a right carotid endarterectomy, bilateral lower extremity amputations, and an aortic valve replacement. Clinical examination revealed light perception vision with an afferent pupillary defect in the left eye and count finger peripheral vision only in the superior temporal quadrant of his vision. The dilated fundus examination showed significant pallid disc edema and focal areas of retina whitening with attenuated peripapillary vasculature in the left eye. This edema was confirmed by optical coherence tomography and supported optic nerve and retinal infarction. A temporal artery biopsy confirmed no evidence of arteritis.

CONCLUSIONS
Hemodynamic disruption during dialysis in patients with end-stage renal disease and overlying anemia can result in optic nerve and retinal infarction. Patients who are predisposed to nonarteritic anterior ischemic optic neuropathy or central retinal artery occlusion should be educated on this before starting dialysis to ensure careful blood pressure monitoring.
Phentolamine Eye Drops Reverse Pharmacologically Induced Mydriasis in a Randomized Phase 2b Trial
Authors: Karpecki Paul M. , Foster Shane A. , Montaquila Stephen M. , Kannarr Shane R. , Slonim Charles B. , Meyer Alan R. , Sooch Mina P. , Jaber Reda M. , Charizanis Konstantinos , Yousif Jonah E. , Klapman Seth A. , Amin Arin T. , McDonald Marguerite B. , Horn Gerald D. , Lazar Eliot S. , Pepose Jay S. 
Published: February 2021

SIGNIFICANCE
After a dilated eye examination, many patients experience symptoms of prolonged light sensitivity, blurred vision, and cycloplegia associated with pharmacological mydriasis. Phentolamine mesylate ophthalmic solution (PMOS) may expedite the reversal of mydriasis in patients, potentially facilitating return to functional vision and reducing barriers to obtaining dilated eye examinations.

PURPOSE
The protracted reversal time after pharmacologically induced pupil dilation impairs vision. We tested the hypothesis that PMOS rapidly reduces pupil diameter in this acute indication.

METHODS
In this double-masked placebo-controlled, randomized, two-arm crossover phase 2b trial, we evaluated the effects of one drop of 1% PMOS applied bilaterally in subjects who had their pupils dilated by one of two common mydriatic agents: 2.5% phenylephrine or 1% tropicamide. End points included change in pupil diameter, percent of subjects returning to baseline pupil diameter, and accommodative function at multiple time points.

RESULTS
Thirty-one subjects completed the study (15 dilated with phenylephrine and 16 with tropicamide). Change in pupil diameter from baseline at 2 hours after maximal dilation with 1% PMOS was −1.69 mm and was significantly greater in magnitude compared with placebo for every time point beyond 30 minutes (P < .05). At 2 hours, a greater percentage of study eyes given 1% PMOS returned to baseline pupil diameter compared with placebo (29 vs. 13%, P = .03), which was this also seen at 4 hours (P < .001). More subjects treated with PMOS in the tropicamide subgroup had at least one eye returning to baseline accommodative amplitude at 2 hours (63 vs. 38%, P = .01). There were no severe adverse events, with only mild to moderate conjunctival hyperemia that resolved in most patients by 6 hours.

CONCLUSIONS
Phentolamine mesylate ophthalmic solution at 1% reversed medically induced pupil dilation more rapidly than placebo treatment regardless of which mydriatic was used (adrenergic agonists and cholinergic blockers) with a tolerable safety profile.