bluuebunny/crossref_metadata_2025 huggingface dataset:
The role of endoscopic intervention in the management of inflammatory pancreatic fluid collections
Authors: Parihar Vikrant , Ridgway Paul F. , Conlon Kevin C. , Huggett Matthew , Ryan Barbara M.
Published: December 2016

Pancreatic fluid collections (PFCs) are a frequent complication of pancreatitis, or less commonly, pancreatic trauma or surgery. The revised Atlanta Classification categorizes PFCs as acute or chronic, with further subclassification of acute collections into acute peripancreatic collections and acute necrotic collections and of chronic fluid collections into pseudocysts and walled-off pancreatic necrosis. Acute PFCs are generally only subjected to an intervention when they are infected and not responding to antibiotics and are not managed endoscopically. Chronic PFCs, both pseudocysts and walled-off pancreatic necrosis, require intervention only when symptomatic or enlarging over time. Endoscopic ultrasound-guided drainage has become the mainstay of management for chronic PFCs that require intervention. Developments in medical devices over the past few years have significantly simplified and shortened the duration of the procedure itself, but the optimum choice of stent in different clinical scenarios remains to be defined, as does the place of endoscopic necrosectomy. To optimize outcomes, these patients should undergo a careful preprocedure workup and discussion in a multidisciplinary environment and procedures should be carried out in high-volume pancreatic units.
Preadmission Diuretic Use and Mortality in Patients Hospitalized With Hyponatremia: A Propensity Score–Matched Cohort Study
Authors: Holland-Bill Louise , Christiansen Christian F. , Ulrichsen Sinna P. , Ring Troels , Lunde Jørgensen Jens O. , Sørensen Henrik T.
Published: December 2016

Background:

Hyponatremia is associated with increased mortality and is frequently induced by diuretic use. It is uncertain whether diuretic use is linked to mortality risk in patients with hyponatremia.

Study Question:

To measure the prognostic impact of diuretic use on 30-day mortality among patients hospitalized with hyponatremia.

Study Design:

Using population-based registries, we identified all patients with a serum sodium measurement <135 mmol/L within 24 hours after acute hospital admission in western Denmark from 2006 to 2012 (cumulative population of 2.2 million). We categorized patients as current diuretic users (new and long-term), former users or nonusers, and followed them until death, migration or up to 30 days which ever came first.

Measures and Outcomes:

Thirty-day cumulative mortality and relative risk with 95% confidence interval (CI) controlled for demographics, previous morbidity, renal function, and co-medications. Calculations were also divided by the diuretic type and were repeated after propensity score matching.

Results:

Thirty-day mortality was 11.4% among current diuretic users (n = 14,635) compared with 6.2% among nonusers, yielding an adjusted relative risk of 1.4 (95% CI, 1.2–1.5). New users were at higher risk (1.7, 95% CI, 1.5–2.0) than long-term users (1.3, 95% CI, 1.2–1.4). In particular, the use of loop diuretics (1.6, 95% CI, 1.4–1.8), potassium-sparing diuretics (1.6, 95% CI, 1.2–2.2), and diuretic polytherapy (1.5, 95% CI, 1.3–1.7) were associated with increased risk, whereas thiazide use was not (1.0, 95% CI, 0.9–1.2). Propensity score–matched analyses confirmed the results.

Conclusions:

Diuretic use except from thiazides, and particularly if newly initiated, is a negative prognostic factor in patients admitted with hyponatremia.
Genotype-guided diagnosis in familial hypercholesterolemia: population burden and cascade screening
Authors: Hopkins Paul N.
Published: December 2016

Purpose of review

In this review, how genetic testing has provided major new insights regarding the population burden of familial hypercholesterolemia (FH) are reviewed. In addition, the role of genetic testing in cascade screening for FH and an updated MEDPED (Make Early Diagnoses to Prevent Early Death in MEDical PEDigrees) algorithm for the clinical diagnosis of FH are presented.

Recent findings

For the first time, recent application of genetic testing for FH in large populations has provided firm estimates of the prevalence of FH (at least one in 220) in the USA. High associated risks of coronary artery disease make FH the most common genetic cause of premature coronary artery disease.

Genetic testing has yielded accurate, new estimates of the population burden of FH. The potential benefits of early diagnosis of FH on a population-wide level have not yet begun to be realized.
Surviving Depression
Authors: Miranda Jeanne , Bromley Elizabeth , Izquierdo Adriana , Jones Felica , Wells Kenneth
Published: December 2016

Depression is persistent and recurrent across ethnic groups. Few narrative analyses of long-term outcomes for ethnically diverse adults with depression exist. We combined 9 years of quantitative data, qualitative interviews at 10 years, clinician ratings of outcomes, and a community discussion group with the objective of describing long-term recovery and survival of diverse primary care patients after an episode of depression. Nearly half of participants were found to be depressed at some time over a 10-year period, and most cases across ethnic groups were judged to need further treatment. The ethnically diverse community members that analyzed the transcripts emphasized assets that participants showed in surviving multiple life stresses. Different sex and ethnic/racial groups had different characteristics of engaging in care, with Latino women in particular raising concerns about care engagement, coping with stress, and long-term outcomes.
Understanding the Impairment Associated With Depressive Symptoms
Authors: Hanson Bjorn , Young Michael A.
Published: December 2016

Relatively little theory or research has addressed the mediating processes through which depressive symptoms lead to impairment. To conceptualize the nature of impairment in depression, we conducted semistructured interviews of 18 psychiatric patients experiencing depressive symptoms about how their depressive symptoms create impairment. Interviews were audio recorded and transcribed, and thematic analysis methods were used to identify content areas and themes. Three content areas were identified: domains of impairment (types of behavior that are impaired), experience of impairment (nature and severity of impairment), and pathways to impairment (processes connecting symptoms to impairment). Pathways included direct connections between symptom and impairment, as well as indirect pathways mediated by other symptoms and by cognitive responses to symptoms. Patients' examples of the impairment phenomena are presented. In addition, patterns of association were observed between particular pathways and symptom type (vegetative versus cognitive/affective). Increased understanding of clients' explanations for impairment may improve clinical intervention and assessments.
Urgent Bypass Surgery Following Failed Endovascular Treatment in Acute Symptomatic Stroke Patient With MCA Occlusion
Authors: Lee Chang Yeob , Kim Chang Hyun , Lee Chang-Young , Sohn Sung-Il , Hong Jeong-Ho
Published: December 2016

Introduction:

Although the benefits of extracranial-intracranial bypass surgery remain controversial, there is some surgical rationale for the augmentation of cerebral blood flow in cases of acute ischemic stroke with hemodynamic instability.

Case Report:

We report a case of a 62-year-old woman who suddenly developed right hemiplegia and global aphasia. Initial magnetic resonance imaging and magnetic resonance angiography revealed a small acute ischemic lesion in left parietal lobe with occlusion at the left middle cerebral artery. We performed an endovascular thrombectomy, which failed. Her neurological deficits remained unchanged. On the basis of immediate postendovascular magnetic resonance perfusion, diffusion-weighted imaging (DWI), and neurological examination, an obvious clinical-DWI and a DWI–perfusion-weighted imaging mismatch were detected. We decided to perform emergency superficial temporal artery to middle cerebral artery bypass to prevent further progression of cerebral ischemia. On a 3-month follow-up, neurological deficits remained minimal motor aphasia and dysarthria.

Conclusions:

Following failed endovascular treatment in patients with acute symptoms attributed to major cerebral artery occlusion, we recommend immediate multimodal neuroimaging. If there are clinical-DWI and DWI–perfusion-weighted imaging mismatch indications, surgical revascularization could be considered as the next salvageable strategy.
Transient Sensory Recovery in Stroke Patients After Pulsed Radiofrequency Electrical Stimulation on Dorsal Root Ganglia
Authors: Apiliogullari Seza , Gezer Ilknur A. , Levendoglu Funda
Published: December 2016

Introduction:

The integrity of the somatosensory system is important for motor recovery and neuroplasticity after strokes. Peripheral stimulation or central stimulation in patients with central nervous system lesions can be an effective modality in improving function and in facilitating neuroplasticity.

Case Report:

We present 2 hemiplegic cases with sensory motor deficit and the result of the pulsed radiofrequency (PRF) electrical stimulation to the dorsal root ganglia. After PRF electrical stimulation, significant improvement was achieved in the examination of patients with superficial and deep sensation. However, during the follow-up visits were observed that the effect of PRF electrical stimulation disappeared.

Conclusions:

We believe that these preliminary results could be used in the development of future prospective cohort studies and randomized controlled trials that focus on the effect of PRF electrical stimulation on dorsal root ganglia to treat sensory deficits in poststroke patients.
Thrombus in Transit
Authors: Petracca Martina , Calandrelli Rosalinda , Broccolini Aldobrando , Caliandro Pietro , Della Marca Giacomo , Frisullo Giovanni , Morosetti Roberta , Profice Paolo , Lamendola Priscilla , Pennestrì Faustino , Pilato Fabio
Published: December 2016

We report the case of a 41-year-old, 7-weeks-pregnant patient, presenting with headache and generalized seizure due to cerebral venous thrombosis complicated by jugular thrombosis and thrombus dislocation into right cardiac cavities. The patient was treated with intravenous heparin, and underwent embolectomy in extracorporeal circulation. This case illustrates the variability of cerebral venous thrombosis progression and a potentially life-threatening condition even during anticoagulant therapy.
Movement Disorders Induced by the “Atypical” Antipsychotic Aripiprazole
Authors: Selfani Karim , Soland Valérie L. , Chouinard Sylvain , Huot Philippe
Published: December 2016

Objectives:

Aripiprazole is an antipsychotic that acts as a partial agonist at dopamine D2 receptors. Because of its partial agonist activity, it was believed that aripiprazole would be less susceptible than typical antipsychotics to induce extrapyramidal side effects. However, a few case-reports and case-series detailing aripiprazole-induced movement disorders have been published, suggesting that aripiprazole-induced movement disorders may arise. Here, we seek to report further cases of aripiprazole-induced movement disorders to raise the awareness of clinicians on this adverse effect.

Methods:

Patients referred to the André-Barbeau Movement Disorder clinic treated with aripiprazole were enrolled in this study. Their charts were retrospectively reviewed and data regarding past psychiatric history, past antipsychotic medication, duration of aripiprazole treatment, daily dose of aripiprazole administered, and resulting movement disorders were collected.

Results:

We report 14 cases of parkinsonism, tardive dyskinesia and akathisia induced by aripiprazole. Some of these, mostly the parkinsonian phenotype, abated spontaneously following drug discontinuation, whereas others, mostly related to tardive phenomena, persisted after aripiprazole was discontinued, and required treatment.

Conclusions:

This case-series adds to the existing literature that suggests that movement disorders may arise following treatment with aripiprazole. Clinicians should be aware of this potential side effect when prescribing aripiprazole to patients.
Spontaneous Spinal Subdural Hematoma
Authors: de Beer Marlijn H. , Eysink Smeets Marjolein M. , Koppen Hille
Published: December 2016

Objective:

Spinal subdural hematomas (SSDHs) are rare. Causes are (1) posttraumatic, (2) iatrogenic (following surgery or lumbar puncture), (3) spontaneous including underlying malformations or coagulation deficits. With a systematic review of literature we want to shed light on the last group: symptomatology, etiology, treatment and outcome will we discussed.

Methods:

Systematic review of literature on PubMed for cases of acute nontraumatic noniatrogenic SSDHs in adults (≥18 y of age). A total of 122 cases were reviewed including 2 cases from our hospital.

Results:

There was a slight preponderance of female patients with spontaneous SSDHs and the mean age was 60 years. Spontaneous SSDHs were mostly located in the thoracic region (40%). Motor symptoms were most frequent (89%), followed by pain. Sensory deficits were present in 64%, of which 81% had a sensory level. In 6% radiculating pain, without any focal neurological deficits, was the presenting symptom. SSDHs were mainly caused by a coagulopathy (48%), predominantly due to the use of coumarins (34%). Other causes were underlying (vascular) malformations and vasculitis. Forty-three percent the SSDHs was idiopathic. 72% of patients underwent a decompressive laminectomy. 59% had a favorable outcome and 34% had a poor outcome.

Conclusions:

Spontaneous SSDHs were predominantly located in the thoracic spine, presenting with paraparesis/paraplegia, sensory level and pain. Over 40% was caused by a coagulation defect, most frequently due to coumarins. Six percent of patients presented with radiculating pain without any focal neurological deficits.
Development of a Keratoconus-Specific Questionnaire Using Rasch Analysis
Authors: Khadka Jyoti , Schoneveld Paul G. , Pesudovs Konrad
Published: December 2016

Purpose

To develop and validate a keratoconus-specific quality of life (QoL) questionnaire: the Keratoconus Outcomes Research Questionnaire (KORQ).

Methods

The study was carried out in three phases. Phase I: content identifications: items were identified based on an extensive literature review, open-ended patient mail survey, and expert consultations. Each item was scored on a visual analog scale (VAS). Phase II: pilot testing using Rasch analysis. Phase III: testing psychometric properties of the final version of the KORQ.

Results

Phase I identified 44 items across 3 different content areas: activity limitation (26), symptoms (20), and convenience (8). The 44-item KORQ was self-administered to 158 people with keratoconus. The 44-item KORQ was multidimensional. Unidimensionality was restored by separating items across three content areas (subscales) as identified in phase I. The activity limitation and symptoms subscales demonstrated adequate measurement precision, but convenience (precision, 1.01) did not. Hence, the convenience subscale was discarded. Rasch analysis revealed that the VAS was disordered. The ordering of the VAS was restored by collapsing categories into 4. An iterative Rasch analysis guided item-removal resulted into a 29-item KORQ (18-item activity limitation and 11-item symptoms). The VAS was replaced by a discrete 4-option labeled categorical rating scale, and it was self-administered by 169 people with keratoconus. Both the subscales demonstrated good psychometric properties. The KORQ scores strongly correlated with visual acuity and contrast sensitivity demonstrating its construct validity.

Conclusions

The 29-item KORQ was a psychometrically robust and valid instrument to assess the impact of keratoconus on activity limitation and symptoms.
Association of Body Length with Ocular Parameters in Mice
Authors: Chakraborty Ranjay , Park Han na , Tan Christopher C. , Weiss Paul , Prunty Megan C. , Pardue Machelle T.
Published: December 2016

Purpose

To determine the association between changes in body length with ocular refraction, corneal radii, axial length, and lens thickness in two different mouse strains.

Methods

Body length, ocular refraction, corneal radii, axial length, and lens thickness were measured for two inbred mouse strains: 129S1/SvJ (n= 7) and C57BL/6 J (n= 10) from 4 to 12 weeks of age. Body length, from tip of nose to base of tail, was obtained using a digital camera. Biometric parameters, corneal radii, and refractions were measured using spectral-domain optical coherence tomography, automated keratometry, and infrared photorefraction, respectively. A mixed-model ANOVA was performed to examine the changes in ocular parameters as a function of body length and strain in mice controlling for age, gender, and weight over time.

Results

C57BL/6J mice had significantly longer body length (average body length at 10 weeks, 8.60 ± 0.06 cm) compared to 129S1/SvJ mice (8.31 ± 0.05 cm) during development (P< .001). C57BL/6J mice had significantly hyperopic refractions compared to 129S1/SvJ mice across age (mean refraction at 10 weeks, 129S1/SvJ: +0.99 ± 0.44D vs. C57BL/6J: +6.24 ± 0.38D,P< .001). Corneal radius of curvature, axial length, and lens thickness (except 10 weeks lens thickness) were similar between the two strains throughout the measurement. In the mixed-model ANOVA, changes in body length showed an independent and significant association with the changes in refraction (P= .002) and corneal radii (P= .016) for each mouse strain. No significant association was found between the changes in axial length (P= .925) or lens thickness (P= .973) as a function of body length and strain.

Conclusions

Changes in body length are significantly associated with the changes in ocular refraction and corneal radii in different mouse strains. Future studies are needed to determine if the association between body length and ocular refraction are related to changes in corneal curvature in mice.
Effect of Accommodation on Peripheral Eye Lengths of Emmetropes and Myopes
Authors: Aldossari Hussain , Suheimat Marwan , Atchison David A. , Schmid Katrina L.
Published: December 2016

Purpose

To investigate the effect of accommodation on central and peripheral axial lengths in young adult emmetropes and myopes.

Methods

On-axis and peripheral axial lengths were measured with the Haag-Streit Lenstar in 83 young adult participants for 0D and 6D accommodation demands. A Badal system was used to both correct refractive errors and induce accommodation. Participants were emmetropes (n = 29, mean spherical equivalent refraction +0.35 ± 0.35D), low myopes (32, −1.38 ± 0.73D), and higher myopes (22, −4.30 ± 0.73D). Ages were similar for all groups (22 ± 2 years). Pupils were dilated with 2.5% phenylephrine to allow a large field of measurement while maintaining active accommodation. Axial lengths were measured in 5° steps to ±30° across the horizontal visual field.

Results

With accommodation, axial length increased for all refractive groups at all positions, but with lessening effect away from fixation. Axial length changes were greater for higher myopes than for emmetropes on-axis (higher myopes 41 ± 14 μm, emmetropes 30 ± 12 μm, P = .005), for higher myopes than for low myopes at 30° nasal (P = .03), and for the higher myopes than for the other groups at 20° nasal (P < .05). There were significant correlations between myopia and changes in axial length at all positions, with the highest correlation on-axis (R
2 = 0.30, P < .001).

Conclusions

During accommodation, eye length increased out to at least ±30° visual angle in young adult myopes and emmetropes. The increase was significantly greater for higher myopes than for the other groups at some positions. At all positions, there were significant correlations between myopia and accommodation-induced changes in axial length.
Oxygen Tension Beneath Scleral Lenses of Different Clearances
Authors: Giasson Claude J. , Morency Jeanne , Melillo Marc , Michaud Langis
Published: December 2016

Purpose

To evaluate the relative partial pressure in oxygen (pO2) at the corneal surface under Boston XO2 scleral lenses (SL) fitted with targeted clearances of 200 and 400 μm (SL200 and SL400).

Methods

During this prospective study, the right eyes of eight normal subjects were fitted with SL200 and SL400. Clearance, validated after 5 minutes of wear with an optical coherence tomograph, was used with lens thicknesses to calculate transmissibility and estimate pO2. Corneal pO2s were measured with an oxygen electrode after 5 minutes of (1) corneal exposure to calibrating gases with various pO2 or of (2) SL wear. Decays in pO2 were modeled to an exponential. Linear regression between exponent k of these decays and calibrating gas pO2s allowed for the calculation of corneal pO2 under SL. Differences between pO2s beneath SL200 and SL400 were tested with a mixed ANOVA.

Results

The estimated transmissibility based on thicknesses and clearances (239.7 ± 34.7; 434.5 ± 33.2 μm) predicted a corneal pO2 of 8.52 ± 0.51 and 6.37 ± 0.28% for SL200 and SL400. These values were close to measured pO2: 9.07 ± 0.86 and 6.19 ± 0.87% (mean ± SEM) (P < .05) for SL200 and SL400, respectively. Both pO2 measurements fall short of the theoretical values needed to prevent hypoxia during lens wear (9.9% and above).

Conclusions

As shown in vivo for the first time, an 18-mm scleral lens fitted with a 400-μm clearance reduces the oxygen tension available to the cornea by 30% compared to a similar lens fitted with a 200-μm clearance after 5 minutes of wear.
Clinical Features in Children with Posterior Polymorphous Corneal Dystrophy
Authors: Ahn Ye Jin , Choi Soon Il , Yum Hae Ri , Shin Sun Young , Park Shin Hae
Published: December 2016

Purpose

To describe clinical features in children diagnosed with posterior polymorphous corneal dystrophy (PPCD) in their first or second decade of life.

Methods

A retrospective study was performed with the medical records of seven unrelated Korean pediatric patients who were diagnosed with PPCD and were followed up for a minimum of 3 years. Thorough ocular examinations were performed, including best-corrected visual acuity, intraocular pressure, refractive and keratometric measurements, slit-lamp biomicroscopy, and specular microscopy at all visits.

Results

Slit-lamp examinations revealed vesicular lesions in one patient and horizontally parallel band-like endothelial lesions in six patients. Unilateral corneal involvement was displayed in 4 patients, yielding 10 eyes with deep corneal features characteristic of PPCD. Other corneal, iris, or fundus pathologic findings were not detected in all cases. Among four children who were examined in their visual development (approximately under 8 years of age), two cases demonstrated unilateral amblyopia at initial examination and exhibited improved visual acuity after refractive correction and occlusion therapy. Astigmatism more than 1.5D, which is generally considered amblyogenic, was found in 8 among 10 PPCD-affected eyes. A final visual acuity of more than 20/32 was achieved with appropriate refractive correction in all PPCD-affected eyes. There was a negative correlation between the corneal astigmatism and the mean endothelial cell density (ECD) (r = −0.655, P = .011). Initial specular microscopic examinations revealed reduced ECD (1733.0 ± 543.9 cells/mm2) composed of enlarged cells (average cell area, 624.8 ± 182.1 μm2/cell) in PPCD-affected eyes, compared with those in PPCD-unaffected eyes from our study subjects (P < .001 and P = .005, respectively). A statistically significant percent loss in ECD from initial to 3 years was noted in the PPCD-affected eyes (P = .03).

Conclusions

The awareness and treatment of refractive error are important, especially in children with early-onset PPCD during the reversible period of amblyopia. Long-term monitoring of corneal endothelium is required in pediatric patients with early-onset PPCD based on a significant endothelial loss over 3 years in PPCD-affected eyes.
Measurement Duration and Frequency Impact Objective Light Exposure Measures
Authors: Ulaganathan Sekar , Read Scott A. , Collins Michael J. , Vincent Stephen J.
Published: December 2016

Purpose

To determine the measurement duration and frequency required to reliably quantify the typical personal light exposure patterns of children and young adults.

Methods

Ambient light exposure data were obtained from 31 young adults and 30 children using a wrist-worn light sensor configured to measure ambient light exposure every 30 seconds for 14 days. To examine the influence of measurement duration upon light exposure, the daily time exposed to outdoor light levels (>1000 lux) was initially calculated based upon data from all 14 days and then recalculated from 12, 10, 8, 6, 4, and 2 randomly selected days. To examine the influence of measurement frequency, the outdoor exposure time was calculated for a 30-second sampling rate and again after resampling at 1-, 2-, 3-, 4-, 5-, and 10-minute sampling rates.

Results

Children spent significantly greater time outdoors (44 minutes higher [95% CI: 26, 62]) compared to adults (P = .001). Children spent more time outdoors during the weekdays (13 minutes higher [−7, 32]) and adults spent more time outdoors during the weekends (24 minutes higher [7, 40]) (P = .005). Calculating light exposure using a lower number of days and coarser sampling frequencies did not significantly alter the group mean light exposure (P > .05). However, a significant increase in measurement variability occurred for outdoor light exposure derived from less than 8 days and 3 minutes or coarser measurement frequencies in adults, and from less than 8 days and 4 minutes or coarser frequencies in children (all P < .05). Reducing measurement duration seemed to have a greater impact upon measurement variability than reducing the measurement frequency.

Conclusions

These findings suggest that a measurement duration of at least 1 week and a measurement frequency of 2 minutes or finer provides the most reliable estimates of personal outdoor light exposure measures in children and young adults.
Ocular Straylight with Different Multifocal Contact Lenses
Authors: Łabuz Grzegorz , López-Gil Norberto , van den Berg Thomas J. T. P. , Vargas-Martín Fernando
Published: December 2016

Purpose

Multifocal contact lenses have been growing in popularity as a modality to correct presbyopic eyes, although visual side effects such as disability glare have been reported. The objective of this study was to investigate the effect of multifocal contact lenses on disability glare by means of ocular straylight.

Methods

A prospective randomized, comparative study was performed that included 16 subjects free of ocular pathology. Straylight was measured using a commercial straylight meter with the natural and dilated pupil. Participants were fitted with Proclear Multifocal (Distance/Near), ACUVUE Oasys for Presbyopia, and Air Optix Aqua Multifocal randomized to the left or right eye. Straylight measurements were repeated with the contact lens in situ after the pupil dilation. Results obtained with the dilated pupil without contact lens acted as a control.

Results

Diameter of the natural and dilated pupil was 2.87 ± 0.40 mm and 7.45 ± 0.86 mm, respectively (P < .001). After pupil dilation, straylight increased from 0.92 ± 0.13 log(s) to 1.04 ± 0.11 log(s) (P < .001). Of the four studied lenses, a significant difference was only found between Air Optix and the control group (P = .006). The latter showed also slightly increased light scatter.

Conclusions

A difference in measured straylight was found between the studied multifocal lenses. The observed variability and the straylight-pupil size dependency should be taken into account to avoid elevated straylight in multifocal contact lens wearers. The reason for the observed differences in straylight must be the subject of future studies.
Streptococcus Pneumoniae Detection Long Time After Death in a Fatal Case of Waterhouse-Friderichsen Syndrome
Authors: Verzeletti Andrea , Bonfanti Carlo , Leide Anna , Azzalini Elena , De Francesco Maria Antonia , Piccinelli Giorgio , De Ferrari Francesco
Published: December 2016

We report a fatal case of Waterhouse-Friderichsen syndrome in a 64-year-old man. The diagnosis, suspected during the autopsy (performed 63 hours after death), was confirmed through the successful detection of Streptococcus pneumoniae DNA and antigens in samples (blood and liver) collected during the autopsy. These results conformed with blood cultures performed antemortem, which became available only the day after the autopsy. The case underlines the need to collect biological material (liver and blood samples) during autopsy for microbiological investigations, although the collection is performed a long time after the death, suggesting that a liver sample works for DNA and liver and blood work for Streptococcus pneumoniae antigen detection.
Postmortem Increase in Body Core Temperature
Authors: Vojtíšek Tomáš , Kučerová Štěpánka , Krajsa Jan , Eren Bülent , Vysočanová Petra , Hejna Petr
Published: December 2016

Postmortem increase in body core temperature is a well-known phenomenon in forensic practice. Despite this, cases of reliably documented postmortem hyperthermia are rarely reported in the forensic literature, and it is still not clear how frequently postmortem hyperthermia occurs and in which cases we may it predict. In routine forensic practice, the standard course of body cooling is expected, and the prediction of normal body core temperature in the time of death is used for back-calculating the time of death by Henssge method. The unexpected rising in body core temperature may considerably misguide the estimation of time since death in the early postmortem period. We present a rare case of nonviolent death in the hospital with exactly recorded unusual elevation of body core temperature after death, although the body temperature shortly before the death was normal. In the presented case, the “standard” cooling of the body began up to 4 hours after death.
The Virtual Hydrostatic Test
Authors: Mazuchowski Edward L. , Franco Dori M. , Berran Philip J. , Harcke H. Theodore
Published: December 2016

The hydrostatic test is used to help determine if there has been a live birth. Computed tomography (CT), with its ability to detect and localize air/gas in the body, offers a rapid, noninvasive tool for assessment.

Four baby deaths (20 to 25 weeks' gestation) in which the hydrostatic test, radiographs, and CT were performed before autopsy are presented. In 2 cases, considered stillbirths, the lungs and liver sank, and there was no air seen in the lungs or gas in the liver on CT. Histology of the lungs showed collapsed alveoli. In 1 case, concluded to be a live birth, the lungs floated, the liver sank, and air was seen in the trachea, bronchi, and both lungs on CT. Histology of the lungs showed multiple areas of expanded alveoli. In 1 case, where both the lungs and liver floated, the CT showed gas widely distributed in the soft tissues. This reflected decomposition, and no conclusion could be made regarding birth status.

Assessment of live birth is a critical and difficult decision. Postmortem CT offers another technique to consider in this determination, and it has significant advantages over radiography. Continued study and correlation with existing methods seem warranted.
Sudden Death From Ruptured Intracranial Vascular Malformations During Mechanical Asphyxia
Authors: Wu Xue-mei , Zhang Xu-dong , Yun Li-bing , Liu Min , Yi Xu-fu
Published: December 2016

Smothering and manual strangulation are not uncommon in domestic violence against women; however, no report on the combination of mechanical asphyxia and intracranial vascular malformations has been previously published. We report a middle-aged woman who was smothered and manually strangled by her husband and subsequently died from subarachnoid hemorrhage due to ruptured intracranial vascular malformations, rather than direct mechanical asphyxiation. Smothering and manual strangulation are considered provocative conditions for rupture and contributory causes of death. In this case study, we underline the importance of meticulous autopsy in cases of mechanical asphyxia and intracranial hemorrhage. Exclusion of underlying diseases that may have caused or contributed to death is also required, despite serious asphyxiation signs and neck injuries. Postmortem angiography is a valuable complement to autopsy to detect vascular pathology, with good prospects for further development in China.
Gain of TP53 Mutation in Imatinib-treated SDH-Deficient Gastrointestinal Stromal Tumor and Clinical Utilization of Targeted Next-generation Sequencing Panel for Therapeutic Decision Support
Authors: Wei Christina H. , Pettersson Jonas , Campan Mihaela , Chopra Shefali , Naritoku Wesley , Martin Sue E. , Ward Pamela M.
Published: December 2016

Patients with succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) have few therapeutic options. Despite lack of KIT or platelet-derived growth factor receptor A (PDGFRA) driver mutations, SDH-deficient GISTs display strong expression of KIT by immunohistochemistry and these patients are often treated with tyrosine kinase inhibitors, including imatinib as a first-line therapy. Using a targeted next-generation sequencing panel of mutation hotspots of 50-clinically relevant genes, we investigated (1) concurrence of somatic/actionable mutations and (2) tumor molecular evolution by comparing 2 resection specimens 1.5 years apart while the patient was on imatinib adjuvant therapy. We found the tumors did not harbor KIT, PDGFRA, or any other clinically actionable mutations. However, a TP53 mutation (c.422G>A; p.C141Y) was detected in the second recurrent lesion. This represents the first study to monitor the molecular evolution of a SDH-deficient GIST during adjuvant treatment. These findings emphasize the critical need for next-generation sequencing testing before initiating targeted therapy.
Melanotic PEComa of the Sinonasal Mucosa With NONO-TFE3 Fusion
Authors: McGregor Stephanie M. , Alikhan Mir B. , John Rahel A. , Kotler Howard , Bridge Julia A. , Mujacic Ibro , Kadri Sabah , Segal Jeremy , Krausz Thomas
Published: December 2016

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal tumors with features of both smooth muscle and melanocytic differentiation, with or without true melanin pigment. The highly variable morphology of PEComas results in a broad differential diagnosis that is also dependent on anatomic site. A subset demonstrates rearrangements involving the TFE3 (Xp11) locus, which can be used in diagnostically difficult cases. Here we describe a case of a melanotic PEComa with NONO-TFE3 fusion occurring in the sinonasal mucosa, as demonstrated by both next-generation sequencing and molecular cytogenetic studies. This case is the first of its kind in the literature and only the second documented PEComa harboring a NONO-TFE3 rearrangement. In light of unequivocal molecular ancillary studies, this case illustrates that PEComa must enter the differential for pigmented lesions of the sinonasal mucosa, where malignant melanoma would be much more likely to occur.
Pituitary Adenomas Presenting as Sinonasal or Nasopharyngeal Masses
Authors: Hyrcza Martin D. , Ezzat Shereen , Mete Ozgur , Asa Sylvia L.
Published: December 2016

We present a series of nonectopic pituitary adenomas presenting as polypoid sinonasal or nasopharyngeal masses. Thirteen cases diagnosed by biopsies from the nasal cavity, sinuses, or nasopharynx were identified from a series of 1288 surgical pituitary specimens. The patients included 5 men and 8 women ranging from 29 to 69 years of age. The presentations included nasal obstruction (4 cases), headaches (3), visual defects (2), recurrent nose bleeds (1), rhinorrhea (1), sepsis (1), fatigue (1), and hyperthyroidism (1). All patients had large tumors involving the sella and extending inferiorly to involve the sphenoid sinus in 10 cases, ethmoid in 8, nasopharynx in 3, nasal cavity in 6, maxillary and frontal sinuses in 1 case each. In 3 patients, the biopsy was from the nasopharynx, in 4 from the nasal cavity, in 4 from the sphenoid sinus, and in 2 from the ethmoid sinus. The correct diagnosis of pituitary adenoma was initially made in 10 cases. In 3 cases the initial diagnosis was incorrect; 2 tumors were classified as olfactory neuroblastoma, one of those was reclassified as neuroendocrine carcinoma, and 1 case was initially diagnosed as neuroendocrine carcinoma with aberrant adrenocorticotrophic hormone expression. Clinical follow-up (2 to 25 y) and treatment information was available in 10 cases. All 10 patients were alive, either free of disease (4 cases) or with disease (6 cases). In 2 cases, the wrong diagnoses led to incorrect treatment with significant morbidity. These cases illustrate that pituitary adenomas can invade nasopharynx and sinonasal cavities and when they do, they present a possible diagnostic pitfall with potentially serious consequences. We demonstrate the need to always consider this entity when encountering a nasopharyngeal or sinonasal tumor with neuroendocrine features.
EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location
Authors: Kao Yu-Chien , Sung Yun-Shao , Zhang Lei , Chen Chun-Liang , Vaiyapuri Sumathi , Rosenblum Marc K. , Antonescu Cristina R.
Published: December 2016

Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family (ATF1 and CREB1) have been reported in a diverse group of tumors including angiomatoid fibrous histiocytoma (AFH), soft tissue and gastrointestinal clear cell sarcoma, primary pulmonary myxoid sarcoma, and hyalinizing clear cell carcinoma of salivary gland. We have recently encountered a group of 5 myxoid mesenchymal tumors positive for EWSR1 fusions with one of the CREB family member (ATF1, CREB1, and CREM), with histologic features distinct from any of the previously described pathologic entities. Tumors occurred in children or young adults (12 to 23 y; mean, 18 y), with equal sex distribution. All except 1 were intracranial (intra-axial, 2; meningeal, 2), whereas 1 was perirectal. Histologically, the tumors were well circumscribed, often lobulated, composed of uniform ovoid to round cells, and arranged in cord-like or reticular structures in a myxoid background. All except 1 displayed unique sunburst amianthoid fibers. Immunohistochemically, tumors were positive for epithelial membrane antigen (5/5; 4 focal, 1 diffuse) and desmin (3/5). A novel EWSR1-CREM fusion was identified by RNA sequencing in the perirectal tumor, which was further confirmed by fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR). A second case with similar EWSR1-CREM fusion was identified by RT-PCR and FISH in a meningeal tumor. The remaining cases studied by FISH showed the presence of EWSR1-CREB1 fusion in 2 cases and EWSR1-ATF1 in 1. In conclusion, we report a distinct group of myxoid mesenchymal neoplasms occurring in children or young adults with a predilection for intracranial locations. Although the immunoprofile [epithelial membrane antigen (EMA), desmin] and the fusion type raise the possibility of a myxoid AFH, none of the typical histologic findings of AFH were present, suggesting a novel entity.
Crospovidone and Microcrystalline Cellulose
Authors: Shaddy Sophia M. , Arnold Michael A. , Shilo Konstantin , Frankel Wendy L. , Harzman Alan E. , Stanich Peter P. , Singhi Aatur D. , Yearsley Martha M. , Arnold Christina A.
Published: December 2016

Crospovidone and microcrystalline cellulose (MCC) are pharmaceutical fillers well known in the pulmonary pathology literature. Fillers are inactive substances incorporated into medications to facilitate drug delivery. By examining 545 consecutive gastrointestinal surgical specimens from 302 patients between September 11, 2015 and October 23, 2015, we identified the fillers in 29 specimens from 26 patients. The control group consisted of an equal number of consecutive site-matched specimens collected during this same time. Pertinent clinicopathologic data were analyzed, and 1 case was subject to special stains. To confirm the histologic diagnosis, a variety of fillers and medications common to the patients were processed. The fillers were found in 9% of all patients, and there were no specific clinicopathologic associations. In the gastrointestinal tract, crospovidone is nonbirefringent and has a coral shape with each segment composed of a pink core and purple coat; MCC is brightly birefringent with matchstick shape and clear color. Identical material was seen in the processed crospovidone and MCC powders, as well as oxycodone-acetaminophen and omeprazole tablets. In summary, crospovidone and MCC are common, biologically inert, and they are most often seen in the small bowel. Their presence outside of the luminal bowel may serve as a surrogate marker for perforation. Awareness of their morphology is important to distinguish fillers from parasites, calcifications, and other medications, particularly those linked to mucosal injury. We report the unique histomorphologic profile of these fillers as a helpful diagnostic aide, and caution that the fillers have slightly divergent features when compared with those described in the lung.
Vascular Injury Characterizes Doxycycline-induced Upper Gastrointestinal Tract Mucosal Injury
Authors: Shih Angela R. , Lauwers Gregory Y. , Mattia Anthony , Schaefer Esperance A.K. , Misdraji Joseph
Published: December 2016

Doxycycline is an oral tetracycline antibiotic that has been associated with upper gastrointestinal (GI) mucosal injury. Recently, characteristic vascular degeneration has been reported in the stomach and duodenum in patients with doxycycline-induced injury. Fourteen patients who underwent upper GI endoscopy for nonspecific symptoms and were found to have doxycycline-induced gastric and esophageal injury are described. Most patients showed characteristic vascular injury. A control group of gastric erosions and esophageal ulcers showed no cases with the characteristic vascular changes. Clinical, endoscopic, and pathologic features of doxycycline-induced upper GI tract injury are reviewed, with an emphasis on vascular injury.
Atypical Intraductal Cribriform Proliferations of the Prostate Exhibit Similar Molecular and Clinicopathologic Characteristics as Intraductal Carcinoma of the Prostate
Authors: Hickman Richard A. , Yu Hui , Li Jianhong , Kong Max , Shah Rajal B. , Zhou Ming , Melamed Jonathan , Deng Fang-Ming
Published: December 2016

Atypical intraductal cribriform proliferations of the prostate (AIP) are loose cribriform proliferations of luminal cells that exhibit greater architectural complexity and/or nuclear atypia than high-grade prostatic intraepithelial neoplasia (HGPIN), but lack the diagnostic criteria for intraductal carcinoma (IDC). The significance of AIP has not been formally established. We compared the clinical, morphologic, and immunohistochemical characteristics of AIP with classic IDC in 310 radical prostatectomy specimens that were received over an 18-month period. Of the 310 cases, 46 cases had AIP only (n=10), IDC only (n=6), or AIP coexisting with IDC (n=30). The ERG status of all 46 AIP/IDC cases was identical to the nearby acinar carcinoma, contrasted to just 3 cases of HGPIN (7%, P<0.01). The degree of uniform phosphatase and tensin homolog (PTEN) loss in 34 selected cases was identical in AIP and IDC (66.7%). No foci of HGPIN showed uniform PTEN loss; there was only 38% concordance of PTEN expression pattern between HGPIN and the nearby acinar carcinoma, unlike AIP and IDC (77% and 81%, respectively, P<0.01). AIP-associated and/or IDC-associated carcinoma (n=46) showed a higher stage and grade compared with acinar-only carcinoma (n=264, P<0.01). AIP-associated carcinoma had similar clinicopathologic features as IDC-associated carcinoma, including preoperative prostate-specific antigen, Gleason score, extraprostatic extension, seminal vesicle invasion, and lymph node metastasis (n=36, P>0.05). In conclusion, AIP shares similar ERG/PTEN immunoprofiles and exhibits similar clinical behavior as IDC, warranting immediate repeat biopsy when AIP is identified on biopsy, as is recommended in the most recent WHO Classification of Tumours of the Urinary System and Male Genital Organs, 2016.
FOSB is a Useful Diagnostic Marker for Pseudomyogenic Hemangioendothelioma
Authors: Hung Yin P. , Fletcher Christopher D.M. , Hornick Jason L.
Published: December 2016

Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma is a distinctive vascular neoplasm of intermediate biological potential with a predilection for young adults and frequent multifocal presentation. Pseudomyogenic hemangioendothelioma is characterized by loose fascicles of plump spindled and epithelioid cells with abundant eosinophilic cytoplasm and coexpression of keratins and endothelial markers. Recently, a SERPINE1-FOSB fusion has been identified as a consistent genetic alteration in pseudomyogenic hemangioendothelioma. FOSB gene fusions have also been reported in a subset of epithelioid hemangiomas. The purpose of this study was to assess the potential diagnostic utility of FOSB immunohistochemistry for pseudomyogenic hemangioendothelioma compared with other endothelial neoplasms and histologic mimics. We evaluated whole-tissue sections from 274 cases including 50 pseudomyogenic hemangioendotheliomas, 84 other vascular tumors (24 epithelioid hemangiomas [including 6 cases with angiolymphoid hyperplasia with eosinophilia histology], 20 epithelioid angiosarcomas, 20 epithelioid hemangioendotheliomas [17 CAMTA1 positive, 2 TFE3 positive], 10 spindle-cell angiosarcomas, and 10 epithelioid angiomatous nodules), and 140 other histologic mimics (20 each epithelioid sarcoma, proliferative fasciitis, nodular fasciitis, cellular benign fibrous histiocytoma, spindle-cell squamous cell carcinoma, spindle-cell rhabdomyosarcoma, and leiomyosarcoma). Immunohistochemistry for FOSB was performed following pressure cooker antigen retrieval using a rabbit monoclonal antibody. Diffuse nuclear immunoreactivity for FOSB (>50% of cells) was observed in 48 of 50 (96%) pseudomyogenic hemangioendotheliomas and 13 of 24 (54%) epithelioid hemangiomas (including all angiolymphoid hyperplasia with eosinophilia type). Both FOSB-negative pseudomyogenic hemangioendothelioma cases were decalcified bone tumors. Only 7 other tumors showed diffuse FOSB expression: 2 proliferative fasciitis, 2 nodular fasciitis, 1 epithelioid angiosarcoma, 1 spindle-cell angiosarcoma, and 1 epithelioid hemangioendothelioma. Of note, the FOSB-positive epithelioid hemangioendothelioma was negative for CAMTA1 and TFE3. Focal weak FOSB staining was observed in a subset of histologic mimics and is therefore not diagnostically meaningful. In conclusion, FOSB is a highly sensitive and diagnostically useful marker for pseudomyogenic hemangioendothelioma. Immunohistochemistry for FOSB may be helpful to distinguish pseudomyogenic hemangioendothelioma from histologic mimics including epithelioid sarcoma and other vascular neoplasms. As expected, a subset of epithelioid hemangiomas expresses FOSB, including angiolymphoid hyperplasia with eosinophilia. Although occasional cases of nodular and proliferative fasciitis are positive for FOSB, distinction between these tumor types and pseudomyogenic hemangioendothelioma is usually straightforward based on morphology and other immunophenotypic findings.