bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings
Authors: Ren Hang , Li Lin , Yu Jiyun , Wu Shan , Zhou Shanshan , Zheng Yang , Sun Weixia 
Published: July 2019

Abstract

Rationale:
Fabry's disease is an X-linked inherited syndrome. Herein, we presented an unusual case of Fabry disease coexisting with immunoglobulin A nephropathy (IgAN) presenting with Alport syndrome-like pathological findings.

Patient concerns:
We report a 30-year-old male who presented with proteinuria and elevated serum creatinine and for whom the initial pathologic diagnosis supported Alport syndrome.

Diagnoses:
A diagnosis of Fabry disease with immunoglobulin A nephropathy (IgAN) was finally made after further examination.

Interventions:
After the initial diagnosis the patient was treated with herbal medications and mecobalamin.

Outcomes:
The patient was discharged 1 week later. He was maintained on these treatments and received regular follow-up in our hospital.

Lessons subsections as per style:
FD coexisting with IgAN is rare and may have nonspecific clinical presentations. Laboratory examination and genetic diagnosis is needed for confirmation. Timely diagnosis and reproductive intervention is needed for therapy.
Risk factors for velopharyngeal dysfunction following orthognathic surgery in the cleft population
Authors: Vella Joseph B. , Tatum Sherard A. 
Published: July 2019

Purpose of review
This article highlights important trends in speech outcomes following orthognathic surgery in the cleft lip and palate populations. The geometric changes in the velopharyngeal port caused by maxillary advancement by standard means and distraction are only one consideration in predicting speech outcomes. Myriad and variable preoperative risk factors, both anatomic and functional, have been identified in the literature because of weaknesses in experimental design and small patient populations. Therefore, elucidating risk factors for postoperative velopharyngeal dysfunction remains a challenge in our field.

Recent findings
Recent pharyngeal morphologic studies using computed tomography demonstrate volumetric discrepancies in the unilateral and bilateral cleft lip and palate populations before and after orthognathic surgery, suggesting differing requirements of velar adaptation among these two populations. Perceptual and instrumental speech evaluation studies and cephalometric correlates revisit ‘borderline’ velopharyngeal insufficiency and isolate preoperative velar length as a risk factor for velopharyngeal dysfunction following orthognathic surgery.

Summary
Research design heterogeneity, small patient populations, and inherent risk of bias of retrospective reviews obscure velopharyngeal dysfunction risk factor identification prior to orthognathic surgery. However, recent reports on the volumetric changes in the pharyngeal airway and preoperative ‘borderline’ velopharyngeal insufficiency and velar length offer improved predictive value in anticipating postoperative velopharyngeal dysfunction.
Using Deliberate Practice and Simulation for Psychomotor Skill Competency Acquisition and Retention
Authors: Johnson Cynthia E. , Kimble Laura P. , Gunby Susan Sweat , Davis Alison H. 
Published: July 2019

Background
Quality, safe patient care is dependent on graduates who are proficient in the psychomotor skills of nursing. Competent skill acquisition and retention are key to reducing skill-based errors and reducing the risk of adverse patient events.

Purpose
The purpose of this study was to explore the effect of deliberate practice combined with skill practice during high-fidelity simulation (HFS) scenarios on urinary catheter insertion skill competency and retention in prelicensure nursing students.

Methods
A convergent, parallel mixed-methods design was used.

Results
The group participating in skill practice before and during HFS scenarios demonstrated a reduction in errors when performing the skill and an improvement in retention of skill competency.

Conclusions
This article describes how the combination of deliberate skill practice prior to and during HFS scenarios may improve student skill acquisition and retention.
Hypercapnia Impairs Vasoreactivity to Changes in Blood Pressure and Intraocular Pressure in Rat Retina
Authors: Liu Guodong , Cull Grant , Wang Lin , Bui Bang V. 
Published: July 2019

SIGNIFICANCE
The balance between oxygen and carbon dioxide sets the resting tone (or diameter) of retinal blood vessels. Eyes that are hypercapnic use up their “vasodilatory reserve” and therefore fail to respond adequately to changes in intraocular or blood pressure.

PURPOSE
Retinal vessels are regulated by both myogenic and metabolic mechanisms. We considered whether alteration of metabolic status would modify the vascular response to ocular perfusion pressure (OPP) lowering in rat retina.

METHODS
In pentobarbital anesthetized adult Brown-Norway rats, normocapnia or hypercapnia was achieved by artificially ventilating animals with air or 5% carbon dioxide in ~30% oxygen, respectively. Ocular perfusion pressure was gradually reduced to ~20 mmHg by either lowering blood pressure (slowly drawing blood from a femoral artery/vein) or manometrically increasing intraocular pressure under normocapnic or hypercapnic conditions. In all four groups (n = 7 eyes for each), a confocal scanning laser ophthalmoscope was used to acquire image sequences centered on the optic nerve throughout pressure modification. The diameter of arterioles and venules at various OPP levels was measured and expressed as percentage relative to their own baseline. The response of arterioles and venules to OPP lowering was compared between normocapnic and hypercapnic groups.

RESULTS
Average arterial carbon dioxide partial pressures were 36.9 ± 2.6 mmHg in normocapnic and 64.1 ± 5.9 mmHg in hypercapnic (P < .001) animals. In the normocapnic groups, blood pressure lowering and intraocular pressure elevation resulted in significant vasodilation of both arterioles and venules (P < .0001). In the hypercapnic groups, OPP lowering–induced vasodilation was significantly attenuated compared with the corresponding normocapnic groups (P < .0001 for both, two-way analysis of variance).

CONCLUSION
Hypercapnia significantly modified myogenic vascular autoregulation in response to OPP reduction.
Fatality Due to Button Battery Lodgment in the Upper Digestive Tract of a Neonate
Authors: Janarthanan Venkatesh , Moorthi Kumaran , Shaha Kusa Kumar 
Published: July 2019

Abstract
Foreign body ingestion is not uncommonly seen in children, with most such ingestions occurring between 6 months to 3 years of age. Button battery ingestion constitutes approximately 2% of all ingested foreign bodies in children. Button batteries are disc-shaped power units used for various electronic appliance, gadgets, and toys and often contain various toxic chemical substances such as heavy metal salts and alkali. Button batteries may become lodged in the upper digestive tract, producing severe damage to the adjacent tissues by various mechanisms. A death of a neonate due to a button battery lodging in the upper digestive tract leading to tracheoesophageal fistula and esophageal perforation is presented. To the best of authors' knowledge, the present case is the youngest death reported due to button battery lodgment, and the challenges of investigation in such a case are discussed.
Pilot Trial of the Performance of Electrocardiogram in the Evaluation of Childhood Syncope in the Emergency Department
Authors: Gonzalez-Garcia Javier , Fernandez-Alvarez Ramon , Angelats Carlos M. , Ballestero Yolanda , Martinez Jaime , Mintegi Santiago 
Published: July 2019

Introduction
The electrocardiogram (ECG) is widely considered a standard part of the syncope workup, and it is recommended to be obtained in all children with syncope. Nevertheless, a newly recognized cardiac cause is rare and largely incidental findings are commonly seen, leading to unneeded worry, additional testing, and added health care costs.

Objective
The aim of this study was to analyze the performance of ECG in the evaluation of childhood syncope in the emergency department (ED).

Methods
This was a descriptive, retrospective, multicenter pilot study of patients younger than 14 years diagnosed with syncope in which an ECG was obtained in the ED in 2015 and 2016.

Results
During the study period, 440 patients were diagnosed with syncope, of which an ECG was performed in 197 (44.7%). Of these, 64 (32.5%) were related to any concerning features associated with the event, including 33 occurring during or after physical exertion. No major alteration of the ECG was noted, and the ECG revealed multiple minor findings in 38 (19.2%; 95% confidence interval, 14.4–25.4). Twenty-five (12.7%) children were referred to a pediatric cardiologist. No patient was noted to have a previously undiagnosed cardiac cause of syncope.

Conclusions
A newly recognized cardiac cause is extremely rare among children evaluated for syncope in the ED, and ECG is not systematically obtained in this population. Larger studies are needed to clarify if it is possible to identify a group of children that can be safely managed without a systematic ECG. Best practices need to be better implemented for an adequate management of pediatric syncope in the ED.
A Community Capitals Framework for Identifying Rural Adaptation in Maternal-Child Home Visiting
Authors: Whittaker Jennifer , Kellom Katherine , Matone Meredith , Cronholm Peter 
Published: July 2019

Objective:
To understand how maternal and child home-visiting programs are adapted, enhanced, and expanded to meet the unique needs of rural communities.

Design:
We explored factors shaping the role of home visiting with data from a 2013-2015 statewide evaluation of Maternal, Infant, and Early Childhood Home Visiting–funded programs. Features unique to a rural experiences were mapped onto the Community Capitals Framework.

Setting:
Individual, semistructured interviews were conducted at 11 of 38 home-visiting sites across Pennsylvania.

Participants:
Program administrators, home visitors, and clients.

Main Outcome Measure:
Program adaptation.

Results:
Our analysis represents 150 interviews with 11 program sites serving 14 counties. We document how rural home-visiting programs address community-wide limitations to maternal and child health by adapting program content to better meet the needs of families in rural areas. Data demonstrate how rural home-visiting program's provision of economic and social services reach beyond maternal child health care, building the capacity of individual families and the broader community.

Conclusions:
Home-visiting programs should be viewed as a vehicle for improving community well-being beyond health outcomes. These programs have become an integral part of our public health framework and should be leveraged as such.
Functional and histological improvements of small nerve neuropathy after high-concentration capsaicin patch application: A case study
Authors: Trouvin Anne-Priscille , Perrot Serge 
Published: July 2019

Abstract

Introduction:
Small fiber neuropathy has been found to occur in a large variety of pathological onditions, and the gold standard for diagnosis of small fiber neuropathy is skin biopsy. Sudorimetry is now considered an accurate technique to evaluate small fiber function with a good sensitivity and specificity for the diagnosis of small fiber neuropathy. Capsaicin high-concentration patch is approved for the treatment of peripheral neuropathic pain in adults either alone or in combination with other medicinal products for pain.

Methods:
We describe the case of a 50-year-old woman diagnosed with small fiber neuropathy. After 2 previous treatment failures, she was proposed a treatment with high-dose capsaicin patches on the sole of her foot. The patient experienced an important diminution of her neuropathic pain. There was a 50% decrease in the pain numeric scale. Electrochemical skin conductance and skin biopsy were repeated 3 months after patch application.

Results:
At 3 months, the patient then experienced an important diminution of her neuropathic pain, electrochemical skin conductance had normalized both in the hands and feet and intraepidermal nerve fiber density at distal leg increased almost reaching normal range.

Conclusion:
This case report shows the correlation between clinical improvement, electrochemical skin conductance normalization, and intraepidermal nerve fiber density improvement after a high-dose capsaicin patch in a patient with small fiber neuropathy.
Tissue-Engineered Soft-Tissue Reconstruction Using Noninvasive Mechanical Preconditioning and a Shelf-Ready Allograft Adipose Matrix
Authors: Giatsidis Giorgio , Succar Julien , Waters Trevon D. , Liu Wenyue , Rhodius Patrick , Wang Chenglong , Nilsen Todd J. , Chnari Evangelia , Orgill Dennis P. 
Published: July 2019

Background:
Adipose tissue defects leading to severe functional (disability) and morphologic (disfigurement) morbidity are often treated in plastic surgery with fat grafting, which can be limited by resorption, necrosis, and cyst formation. This study aimed to assess whether adipose scaffolds could provide an environment for in situ autologous fat grafting, and to study whether adipose cell migration and proliferation (adipogenesis) within scaffolds could be enhanced by preliminarily increasing the vascularity (preconditioning) of the surrounding tissue receiving the scaffolds.

Methods:
Using an established rodent model of subcutaneous tissue/scaffold grafting, the authors tested the potential of a human-derived, shelf-ready, injectable, decellularized allograft adipose matrix to reconstruct soft-tissue defects when used in combination with noninvasive mechanical (suction-induced) skin preconditioning.

Results:
Combined use of the allograft adipose matrix and noninvasive skin preconditioning significantly improved long-term volume retention (50 to 80 percent higher at a 12-week follow-up) and histologic quality of reconstructed tissues compared with standard of care (autologous adipose grafts). The components of the allograft adipose matrix supported adipogenesis and angiogenesis. Combining the allograft adipose matrix with living adipose grafts mitigated negative outcomes (lower long-term volume retention, higher presence of cystic-like areas).

Conclusions:
This study suggests that the synergistic use of the allograft adipose matrix and noninvasive tissue preconditioning provides an effective solution for improving fat grafting. These strategies can easily be tested in clinical trials and could establish the basis for a novel therapeutic paradigm in reconstructive surgery.
Adult Living Donor Versus Deceased Donor Liver Transplant (LDLT Versus DDLT) at a Single Center
Authors: Humar Abhinav , Ganesh Swaytha , Jorgensen Dana , Tevar Amit , Ganoza Armando , Molinari Michele , Hughes Christopher 
Published: July 2019

Objective:
The aim of this study was to compare outcomes between living donor liver transplant (LDLT) and deceased donor liver transplant (DDLT) at a single center to demonstrate the advantages of LDLT and provide justification for the increased utilization and application of this procedure.

Summary of Background Data:
LDLT comprises a very small percentage of all liver transplants performed in the United States, this despite its advantages and a shortage of the availability of deceased donor organs.

Methods:
A retrospective review of all adult LDLT (n = 245) and DDLT (n = 592) performed at a single center over 10 years (2009–2019), comparing survival outcomes by Kaplan-Meier analysis and comparing other measures of outcome such as recovery times, complications, costs, and resource utilization.

Results:
Patient survival outcomes were superior in LDLT recipients (3-year 86% vs 80%, P = 0.03). Other outcomes demonstrated shorter length of hospital stay (11 vs 13 days, P = 0.03), less likelihood of intraoperative blood transfusion (52% vs 78%, P < 0.01), and less likelihood of need for posttransplant dialysis (1.6% vs 7.4%, P < 0.01). Early reoperation and biliary/vascular complication rates were similar. Hospital costs related to the transplant were 29.5% lower for LDLT. Complications in living donors were acceptable with no early or late deaths, 3-month reoperation rate of 3.1%, and overall complication rate of 19.5%. Given its advantages, we have expanded LDLT—in 2018, LDLT comprised 53.6% of our transplants (national average 4.8%), and our transplant rate increased from 44.8 (rate per 100-person years) in 2015 to 87.5 in 2018.

Conclusions:
LDLT offers advantages over DDLT including superior outcomes and less resource utilization. The time has come to change the paradigm of how LDLT is utilized in this country.
Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy
Authors: Yang Shuo , Chen Chen , Yuan Jia-Jia , Wang Shuai-Shuai , Wan Xing , He Heng , Ma Si-Qi , Li Bin 
Published: July 2019

Purpose:
Clinical trials of gene therapy for Leber hereditary optic neuropathy (LHON) were conducted in 9 volunteers with the mitochondrial mutation, G11778A in ND4. The purpose of this study was to investigate whether multilocus mitochondrial mutations directly influence the efficacy of gene therapy for LHON.

Methods:
Nine volunteers with LHON participated in a clinical trial with intravitreal injection of an adenoviral vector expressing wild-type ND4. Patients were subsequently divided into 2 groups: according to the differences in therapy efficacy and based on improvements in visual acuity. Full mitochondrial DNA sequences of the 2 groups of patients were generated and compared using PubMed, PolyPhen, and PROVEAN. Furthermore, the association between the detected mutations and clinical effects of gene therapy was analyzed.

Results:
Best-corrected visual acuity (BCVA) significantly improved (≥0.3 log of minimum angle of resolution [logMAR]) in 7 patients 6 months after gene therapy, whereas there was no significant change in BCVA (<0.3 logMAR) of the remaining 2 patients. All 9 patients carried the G1178A mutation in addition to other nonsynonymous mutations. Among these mutations, some were predicted to be neutral and deleterious. Meanwhile, different mitochondrial mutations in the group in which treatment was ineffective, compared with those in responders, were at nucleotide positions 6569 (CO1; Patient 3), 9641 (CO3; Patient 3), and 4491 (ND2; Patient 5).

Conclusions:
Detection of the 3 primary mitochondrial mutations causing LHON is sufficient for screening before gene therapy; sequencing of the entire mitochondrial genome is unnecessary before treatment. Patients with LHON can respond to targeted gene therapy irrespective of additional multilocus mitochondrial mutations.
A phylogenetic model for the recruitment of species into microbial communities and application to studies of the human microbiome
Authors: Darcy John L. , Washburne Alex D. , Robeson Michael S. , Prest Tiffany , Schmidt Steven K. , Lozupone Catherine A. 
Published: July 2019

AbstractUnderstanding when and why new species are recruited into microbial communities is a formidable problem with implications for managing microbial systems, for instance by helping us better understand whether a probiotic or pathogen would be expected to colonize a human microbiome. Much theory in microbial temporal dynamics is focused on how phylogenetic relationships between microbes impact the order in which those microbes are recruited; for example species that are closely related may competitively exclude each other. However, several recent human microbiome studies have observed closely-related bacteria being recruited into microbial communities in short succession, suggesting that microbial community assembly is historically contingent, but competitive exclusion of close relatives may not be important. To address this, we developed a mathematical model that describes the order in which new species are detected in microbial communities over time within a phylogenetic framework. We use our model to test three hypothetical assembly modes: underdispersion (species recruitment is more likely if a close relative was previously detected), overdispersion (recruitment is more likely if a close relative has not been previously detected), and the neutral model (recruitment likelihood is not related to phylogenetic relationships among species). We applied our model to longitudinal human microbiome data, and found that for the individuals we analyzed, the human microbiome generally follows the underdispersion (i.e. nepotism) hypothesis. Exceptions were oral communities and the fecal communities of two infants that had undergone heavy antibiotic treatment. None of the data sets we analyzed showed statistically significant phylogenetic overdispersion.
Structure of D. melanogaster ARC1 reveals a repurposed molecule with characteristics of retroviral Gag
Authors: Cottee Matthew A. , Letham Suzanne C. , Young George R. , Stoye Jonathan P. , Taylor Ian A. 
Published: July 2019

ABSTRACTThe tetrapod neuronal protein ARC and its D. melanogaster homologue, dARC1, have important but differing roles in neuronal development. Both are thought to originate through exaptation of ancient Ty3/Gypsy retrotransposon Gag genes, with their novel function relying on an original capacity for self-assembly and encapsidation of nucleic acids. Here, we present the crystal structure of dARC1 CA and examine the relationship between dARC1, mammalian ARC and the CA protein of circulating retroviruses. We show that whilst the overall architecture is highly related to that of orthoretroviral and spumaretroviral CA, there are significant deviations in both N- and C-terminal domains, potentially affecting recruitment of partner proteins and particle assembly. The degree of sequence and structural divergence suggests that Ty3/Gypsy Gag has been exapted on two separate occasions and that, although mammalian ARC and dARC1 share functional similarity, the structures have undergone different adaptations after appropriation into the tetrapod and insect genomes.
Resting-state network topology and planning ability in healthy adults
Authors: Vriend Chris , Wagenmakers Margot J. , van den Heuvel Odile A. , van der Werf Ysbrand D. 
Published: July 2019

AbstractFunctional magnetic resonance imaging (fMRI) studies have been used extensively to investigate the brain areas that are recruited during the Tower of London (ToL) task. Nevertheless, little research has been devoted to study the neural correlates of the ToL task using a network approach. Here we investigated the association between functional connectivity and network topology during resting-state fMRI and ToL task performance, that was performed outside the scanner. Sixty-two (62) healthy subjects (21-74 years) underwent eyes-closed rsfMRI and performed the task on a laptop. We studied global (whole-brain) and within subnetwork resting-state topology as well as functional connectivity between subnetworks, with a focus on the default-mode, fronto-parietal and dorsal and ventral attention networks. Efficiency and clustering coefficient were calculated to measure network integration and segregation, respectively, at both the global and subnetwork level. Our main finding was that higher global efficiency was associated with slower performance (β = .22, Pbca = .04) and this association seemed mainly driven by inter-individual differences in default-mode network connectivity. The reported results were independent from age, sex, education-level and motion. Although this finding is contrary to earlier findings on general cognition, we tentatively hypothesize that the reported association may indicate that individuals with a more integrated brain during the resting-state are less able to further increase network efficiency when transitioning from a rest to task state, leading to slower responses. This study also adds to a growing body of literature supporting a central role for the default-mode network in individual differences in cognitive performance.