bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency–affected Sibs
Authors: Naifar Manel , Kallel Faten , HadjKacem Faten , Boudabous Hela , Kallel Rim , Boudawara Tahia , Messaoud Olfa , Tbib Neji , Charfi Nadia , Abid Mohamed , Froissart Roseline , Messedi Sondes Hdiji , Ayedi Fatma 
Published: March 2019

Background:
Typically, patients with Acid Sphingomyelinase Deficiency (ASMD) because of p.Arg610del mutation, have mild phenotype with normal linear growth.

Observation:
We reported the case of 2 Tunisian brothers who have been referred for splenomegaly, polyadenopathies, pubertal, and growth delay. Molecular testing of SMPD1 gene revealed the presence of a homozygous p.Arg610del mutation. Lysosphingomyelin and its isoform-509 were both increased confirming ASMD for both cases. Growth hormone deficiency was highly suspected but growth hormone response after stimulating tests was acceptable for both patients.

Conclusions:
There is no correlation between phenotype-genotype in case of p.Arg610del mutation that could be associated to a severe delay of growth.
Minimal Detectable Change for Gait Speed Depends on Baseline Speed in Individuals With Chronic Stroke
Authors: Lewek Michael D. , Sykes Robert 
Published: March 2019

Background and Purpose:
Given the heterogeneity of mobility outcomes after stroke, the purpose of this study was to examine how the minimal detectable change (MDC) for gait speed varies based on an individual's baseline walking speed.

Methods:
Seventy-six participants with chronic stroke and able to walk without therapist assistance participated in 2 visits to record overground self-selected comfortable gait speed (CGS) and fast gait speed (FGS). Based on the CGS at visit 1, participants were assigned to 1 of 3 speed groups: low (<0.4 m/s; n = 32), moderate (0.4-0.8 m/s; n = 29), and high functioning group (>0.8 m/s; n = 15). Participants were then reclassified using updated gait speed cutoffs of 0.49 and 0.93 m/s. For each group, we determined test-retest reliability between visits, and the MDC for CGS and FGS.

Results:
Gait speed significantly increased from visit 1 to visit 2 for each group (P < 0.001). The reliability for CGS declined with increasing gait speed, and MDC95 values increased with increasing gait speed (low: 0.10 m/s; moderate: 0.15 m/s; and high: 0.18 m/s). Similar findings were observed for FGS, and when participants were recoded using alternative thresholds.

Discussion and Conclusions:
Slower walkers demonstrated greater consistency in walking speed from day to day, which contributed to a smaller MDC95 than faster walkers. These data will help researchers and clinicians adjust their expectations and goals when working with individuals with chronic stroke. Expectations for changing gait speed should be based on baseline gait speed, and will allow for more appropriate assessments of intervention outcomes.

available
for more insights from the authors (see the Video, Supplemental Digital Content 1, available at: http://links.lww.com/JNPT/A253).
Trunk Exercises Improve Balance in Parkinson Disease: A Phase II Randomized Controlled Trial
Authors: Hubble Ryan P. , Silburn Peter A. , Naughton Geraldine A. , Cole Michael H. 
Published: March 2019

Background and Purpose:
Trunk control is important for maintaining balance; hence, deficient trunk control may contribute to balance problems in people with Parkinson disease (PD). Unfortunately, this deficit is poorly managed with pharmacological therapies, emphasizing the need for alternative therapies for these patients. This randomized controlled trial sought to examine the effects of a 12-week trunk-specific exercise-based intervention on balance in people with PD.

Methods:
Twenty-four people with PD and with a history of falls completed assessments of motor symptom severity, balance confidence, mobility, quality of life, and quiet-standing balance. Participants were then randomized to receive either 12 weeks of exercise or education and reassessed after 12 and 24 weeks.

Results:
Linear mixed-models analyses showed no significant changes in clinical outcomes following the intervention. However, during quiet standing, sway area on a foam surface without vision was reduced for the exercise group at 12 (−6.9 ± 3.1 cm; 95% confidence interval [CI] = −13.1 to −0.7; P = 0.029; d = 0.66) and 24 weeks (−7.9 ± 3.1 cm; 95% CI = −14.1 to −1.7; P = 0.013; d = 0.76). Furthermore, the exercise group demonstrated reduced sway variability at 12 (−0.2 ± 0.1 cm; 95% CI = −0.4 to 0.0; P = 0.042; d = 0.62) and 24 weeks in the medial-lateral direction (−0.2 ± 0.1 cm; 95% CI = −0.4 to 0.0; P = 0.043; d = 0.62). No changes in quiet standing balance were recorded for the education group.

Discussion and Conclusions:
The results of this study suggest that exercise-based interventions targeting trunk strength, endurance, and mobility may be effective for improving quiet-standing balance in people with PD. However, additional research is needed to determine whether these improvements are sufficient to reduce falls risk.

Video Abstract available for more insights from the authors (see Video, Supplemental Digital Content 1, available at: http://links.lww.com/JNPT/A254).
Vestibular Physical Therapy in Individuals With Cognitive Impairment: A Theoretical Framework
Authors: Klatt Brooke N. , Ries Julie D. , Dunlap Pamela M. , Whitney Susan L. , Agrawal Yuri 
Published: March 2019

Falls are a major health care concern in individuals with Alzheimer disease (AD) and their caregivers. Vestibular impairment is a known risk factor for falls, and individuals with AD have been shown to have an increased prevalence of vestibular loss compared with age-matched controls. Vestibular physical therapy (VPT) is effective in improving balance and reducing fall risk in cognitively-intact persons with vestibular impairment. However, the effectiveness of VPT in improving balance and reducing falls in individuals with AD who have vestibular loss has never been explored.

Summary of Key Points:
In this article, we apply prevailing ideas about rehabilitation and motor learning in individuals with cognitive impairment (IwCI) to VPT.

Recommendations for Clinical Practice:
We propose a modification of current evidence-based VPT protocols for IwCI using the strength-based theoretical framework that emphasizes the motor learning abilities of IwCI. In addition, we highlight the importance of establishing an excellent rapport with IwCI, and present key strategies for optimizing the therapeutic relationship. In ongoing work, we are assessing the efficacy of this modified VPT protocol in IwCI to improve balance and reduce falls.
Incremental Vestibulo-ocular Reflex Adaptation Training Dynamically Tailored for Each Individual
Authors: Todd Christopher J. , Schubert Michael C. , Figtree William V. C. , Migliaccio Americo Aniello 
Published: March 2019

Background and Purpose:
Unilateral incremental vestibulo-ocular reflex (VOR) adaptation (IVA) increases the VOR gain (= eye/head velocity) for head rotations to one side by ∼10%. Prior IVA studies involved setting the initial VOR training gain demand at the subject's starting value (= 1 in a healthy subject), with the gain preset to increment by 0.1 every 90 seconds over 15 minutes, defined as Static IVA. We determined whether a dynamically calculated gain demand (= “actual gain” + 0.1) would result in greater adaptation, defined as Dynamic IVA.

Methods:
Using a hybrid video-oculography and StableEyes training system, we measured the active (self-generated head impulse) and passive (imposed, unpredictable head impulse) VOR gain in 8 healthy subjects before and after 15 minutes of Static (ie, preset) and Dynamic IVA training consisting of active, leftward and rightward, horizontal head impulses (peak amplitude 15°, peak velocity 150°/s, and peak acceleration 3000°/s2). We also measured the active VOR gain during training.

Results:
The VOR gain increase toward the adapting side was ∼5% larger after Dynamic compared with Static IVA training (Dynamic: 13.9% ± 5.2%, Static: 9.4% ± 7.3%; P < 0.05).

Discussion and Conclusions:
Our data suggest that 17°/s retinal image slip (due to the 0.1 gain difference between demand and actual gain) is sufficient to drive robust VOR adaptation. The implications for vestibular rehabilitation are that Dynamic IVA training not only produces better VOR adaptation but also allows more flexible training, for example, training can be spread over several smaller time blocks, without undoing prior adaptation.
Ocular Misalignment in Dizzy Patients—Something's A-Skew
Authors: Gold Daniel R. , Schubert Michael C. 
Published: March 2019

Background and Purpose:
Both central (eg, brain stem, cerebellum) and peripheral (eg, vestibular, fourth cranial nerve palsy) etiologies can cause a vertical misalignment between the eyes with a resultant vertical diplopia. A vertical binocular misalignment may be due to a skew deviation, which is a nonparalytic vertical ocular misalignment due to roll plane imbalance in the graviceptive pathways. A skew deviation may be 1 component of the ocular tilt reaction. The purposes of this article are (1) to understand the pathophysiology of a skew deviation/ocular tilt reaction and (2) to be familiar with the examination techniques used to diagnose a skew and to differentiate it from mimics such as a fourth cranial nerve palsy.

Summary of Key Points:
The presence of a skew deviation usually indicates a brain stem or cerebellar localization. Vertical ocular misalignment is easily missed when observing the resting eye position alone.

Recommendations for Clinical Practice:
Physical therapists treating patients with vestibular pathology from central or peripheral causes should screen for vertical binocular disorders.
Cervical Spine Involvement in a Challenging Case of Accidental Strangulation
Authors: De-Giorgio Fabio , Grassi Simone , Miscusi Massimo , Ricciardi Luca , Polli Filippo Maria 
Published: March 2019

Abstract
Although strangulation is generally homicidal, the scientific literature reports several cases in which it is suicidal or even accidental. The former eventuality is particularly interesting because extremely atypical ligatures (such as locks of hair), complex dynamics, and uncommon findings can be involved. Only a meticulous evaluation of the body and of both direct and circumstantial evidence can help in the complex differential diagnosis that includes murder, suicide, and accident. In accidental strangulation, the number and severity of injuries depend on the magnitude of applied force. This implies that high-energy strangulation (in our case, caused by the entanglement of a scarf in an electrical generator) can produce a complex polytrauma. In this case, accidental self-strangulation caused widespread, posttraumatic subarachnoid hemorrhaging, laceration of the larynx, and fracture-dislocation of the C2/C3 vertebrae. We believe that all these events contributed to the death of the victim, but the complexity of the polytrauma and the lack of direct evidence did not allow us to determine a univocal cause-effect chain.
Improving Pediatric Diabetic Ketoacidosis Management in Community Emergency Departments Using a Simulation-Based Collaborative Improvement Program
Authors: Abulebda Kamal , Whitfill Travis , Montgomery Erin E. , Kirby Michele L. , Ahmed Rami A. , Cooper Dylan D. , Nitu Mara E. , Auerbach Marc A. , Lutfi Riad , Abu-Sultaneh Samer 
Published: March 2019

Objectives
The majority of pediatric patients with diabetic ketoacidosis (DKA) present to community emergency departments (CEDs) that are less prepared to care for acutely ill children owing to low pediatric volume and limited pediatric resources and guidelines. This has impacted the quality of care provided to pediatric patients in CEDs. We hypothesized that a simulation-based collaborative program would improve the quality of the care provided to simulated pediatric DKA patients presenting to CEDs.

Methods
This prospective interventional study measured adherence of multiprofessional teams caring for pediatric DKA patients preimplementation and postimplementation of an improvement program in simulated setting. The program consisted of (a) a postsimulation debriefing, (b) assessment reports, (c) distribution of educational materials and access to pediatric resources, and (d) ongoing communication with the academic medical center (AMC). All simulations were conducted in situ (in the CED resuscitation bay) and were facilitated by a collaborative team from the AMC. A composite adherence score was calculated using a critical action checklist. A mixed linear regression model was performed to examine the impact of CED and team-level variables on the scores.

Results
A total of 91 teams from 13 CEDs participated in simulated sessions. There was a 22-point improvement of overall adherence to the DKA checklist from the preintervention to the postintervention simulations. Six of 9 critical checklist actions showed statistically significant improvement. Community emergency departments with medium pediatric volume showed the most overall improvement. Teams from CEDs that are further from the AMC showed the least improvement from baseline.

Conclusions
This study demonstrated a significant improvement in adherence to pediatric DKA guidelines in CEDs across the state after execution of an in situ simulation-based collaborative improvement program.
Hypernatremia in a Sleepy 2-Month-Old With Mention of Abnormal Eye Movements
Authors: Frazier Steven Barron , Fitzgerald Nina M. 
Published: March 2019

Abstract
Septo-optic dysplasia is a rare congenital heterogeneous malformation comprising at least 2 components of the triad: optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. We report a 2-month-old girl who presented with hypernatremia, constipation, and increased sleepiness with mother's recent appreciation of abnormal eye movements. We discuss the diagnosis and management of this patient who avoided significant morbidity by prompt diagnosis based initially on clinical suspicion. This case report emphasizes that thorough laboratory and physical evaluation of similar cases as presentation can vary considerably based on degree of pituitary dysfunction. Because of this variable presentation, diagnosis is typically delayed in otherwise healthy appearing infants early in their course of illness. To our knowledge, this is the first emergency medicine case report to discuss this diagnosis.
The Racoon Eye Sign in the Investigation of Dementia Using 18F-Florbetaben
Authors: Ordidge Katherine , Gandy Nemi , Arshad Mubarik , Win Zarni 
Published: March 2019

Abstract
Differentiating Alzheimer disease (AD) from other forms of cognitive impairment and from normal aging can be challenging. As a consequence, the diagnosis of AD can be delayed, often occurring too late for meaningful intervention. The role of β-amyloid plaques in the pathogenesis of AD provides a target for highly sensitive and specific image quantification of amyloid plaque burden using β-amyloid PET (18F-florbetaben). Here we present the case of a 77-year-old woman with increasing memory impairment and striking white matter changes on MRI, with the “racoon eye” sign on 18F-florebetaben PET imaging.
Extraosseous Colonic Uptake of 99mTc-MDP Associated With Iodinated Contrast CT
Authors: Ng Thomas S. C. , Sakellis Christopher G. , Jacene Heather A. 
Published: March 2019

Abstract
Extraosseous 99mTc-MDP uptake on bone scans is frequently encountered and has a broad differential diagnosis. A small subset of such patients can present with intestinal 99mTc-MDP uptake. We present the case of a 35-year-old woman with status after right nephrectomy for renal cell carcinoma, being followed with bone scan for osseous metastases. Follow-up imaging revealed new faint 99mTc-MDP uptake in the right hemiabdomen. Correlation with contrast-enhanced CT localized this uptake to the ascending colon. Enteric 99mTc-MDP uptake and its association with iodinated contrast should be considered in the differential diagnosis of extraosseous enteric 99mTc-MDP uptake.
Excellent Response to Lower Dose of 177Lu-PSMA-617 in a Metastatic Castration–Resistant Prostate Cancer Patient With a Transplanted Kidney
Authors: Norouzi Ghazal , Aghdam Ramin Akbarian , Hashemifard Hamidreza , Pirayesh Elahe 
Published: March 2019

Abstract
A 68-year-old man with metastatic castration-resistant prostate cancer and widespread bone metastases as well as a history of kidney transplant, underwent 5 cycles of 177Lu–prostate-specific membrane antigen 617 therapies in our department. Being more cautious of the radiation burden imposed on the transplanted kidney, a lower average dose of 4 GBq per cycle was administered (instead of the more routine 6.0-7.4 GBq per cycle). However, excellent response was noted and serum creatinine level of 0.8 mg/dL remained stable.
Cholesterol Granuloma Masquerading as Gallbladder Carcinoma on 18F-FDG PET/CT
Authors: Fu Zhanli , Chen Xueqi , Yang Xing , Li Qian 
Published: March 2019

Abstract

18F-FDG PET/CT was performed on a 70-year-old man to stage the newly diagnosed multiple myeloma. A hypermetabolic lesion in the gallbladder fundus was revealed incidentally and suspected for gallbladder carcinoma, but was finally proven to be a cholesterol granuloma by the pathology of cholecystectomy.
Ochronosis Involvement and Extensity With 18F-FDG PET/CT
Authors: Acar Emine , Bekiş Recep , Zengin Berin , Birlik Merih 
Published: March 2019

Abstract
Ochronosis (alkaptonuria) is an autosomal recessive inherited metabolic disease that causes pigmentation by accumulation of homogenous acid in the connective tissue. The most important causes of morbidity are ochronotic arthropathy and cardiovascular involvement seen in fourth and sixth decades, respectively. In this case report, we report the prevalence of 18F-FDG PET/BT findings in a 48-year-old man with ochronosis who underwent 18F-FDG PET/BT imaging for the evaluation of mediastinal lymphadenopathy.
18F-FDG PET/CT Findings in Disseminated Genital Herpes in an Immunocompetent Patient With Anaplastic Lymphoma Kinase Rearranged Advanced Nonsmall Cell Lung Cancer
Authors: Dejanovic Danijela , Amtoft Annemarie Gjelstrup , Sørensen Jens Benn , Pøhl Mette 
Published: March 2019

Abstract
We present the PET/CT findings of extensive disseminated genital herpes simplex virus infection in a 29-year-old woman known with disseminated anaplastic lymphoma kinase–mutated nonsmall lung cancer. PET/CT revealed extensive involvement of the outer and inner genitalia, multiple lymph nodes extending from the porta hepatis to the groins, and involvement of the liver. Disseminated herpes simplex virus infection is well described in neonates and immunocompromised individuals but very rare in immunocompetent adults as was the case with this patient.
Remyelination in multiple sclerosis: from concept to clinical trials
Authors: Kremer David , Göttle Peter , Flores-Rivera Jose , Hartung Hans-Peter , Küry Patrick 
Published: March 2019

Purpose of review
Medications for relapsing multiple sclerosis (MS) effectively reduce relapse rate, mitigate disability progression and improve MRI measures of inflammation. However, they have virtually no impact on remyelination which is the major mechanism preventing MS-associated neurodegeneration. Stimulating the generation of myelin-(re)producing cells is therefore a central focus of current MS research and a yet unmet clinical need. Here, we present and evaluate key scientific studies from the field of (therapeutic) remyelination research covering the past 1.5 years.

Recent findings
On the one hand, recent research in the field of remyelination has strongly focused on repurposing drugs that are already approved for other indications by the Food and Drug Administration or the European Medicines Agency. On the other hand, emerging agents such as the mAbs opicinumab and GNbAC1 target entirely new and unconventional pathways. Some of them have already been tested in clinical trials in which they were found to exert beneficial effects on remyelination as well as on neuroregeneration/neuroprotection.

Summary
Several of the agents discussed in this review have shown a high potential as future neuroregenerative drugs. However, future trials with more sensitive clinical and paraclinical primary endpoints will be necessary to prove their effectiveness in MS.
Molecular chain networks and strain energy functions in rubber elasticity
Authors: Carroll Michael M. 
Published: March 2019

A relatively simple molecular–statistical model for rubber elasticity, similar to the Wang–Guth and the Arruda–Boyce (AB) models, is presented. Discussion of some approximate inverse Langevin functions leads to the selection of a new one as the most attractive balance between accuracy and simplicity. Use of this approximation with the AB model, in particular, yields the logarithmic strain energy introduced by Gent that exhibits limiting chain extensibility. A rather unusual facet of the relationship between the three strain energies is that the new one is the mean of the other two.
This article is part of the theme issue ‘Rivlin's legacy in continuum mechanics and applied mathematics’.
Likely equilibria of the stochastic Rivlin cube
Authors: Mihai L. Angela , Woolley Thomas E. , Goriely Alain 
Published: March 2019

The problem of the Rivlin cube is to determine the stability of all homogeneous equilibria of an isotropic incompressible hyperelastic body under equitriaxial dead loads. Here, we consider the stochastic version of this problem where the elastic parameters are random variables following standard probability laws. Uncertainties in these parameters may arise, for example, from inherent data variation between different batches of homogeneous samples, or from different experimental tests. As for the deterministic elastic problem, we consider the following questions: what are the likely equilibria and how does their stability depend on the material constitutive law? In addition, for the stochastic model, the problem is to derive the probability distribution of deformations, given the variability of the parameters.
This article is part of the theme issue ‘Rivlin's legacy in continuum mechanics and applied mathematics’.
Flow of a new class of non-Newtonian fluids in tubes of non-circular cross-sections
Authors: Gomez-Constante Juan P. , Rajagopal Kumbakonam R. 
Published: March 2019

Fluids described by constitutive relations wherein the symmetric part of the velocity gradient is a function of the stress can be used to describe the flows of colloids and suspensions. In this paper, we consider the flow of a fluid obeying such a constitutive relation in a tube of elliptic and other non-circular cross-sections with the view towards determining the velocity field and the stresses that are generated at the boundary of the tube. As tubes are rarely perfectly circular, it is worthwhile to study the structure of the velocity field and the stresses in tubes of non-circular cross-section. After first proving that purely axial flows are possible, that is, there are no secondary flows as in the case of many viscoelastic fluids, we determine the velocity profile and the shear stresses at the boundaries. We find that the maximum shear stress is attained at the co-vertex of the ellipse. In general tubes of non-circular cross-section, the maximum shear stress occurs at the point on the boundary that is closest to the centroid of the cross-section.
This article is part of the theme issue ‘Rivlin's legacy in continuum mechanics and applied mathematics’.