bluuebunny/crossref_metadata_2025 huggingface dataset:
A Long-Term Study of the Treatment of Nelson's Syndrome With Gamma Knife Radiosurgery
Authors: Caruso James P , Patibandla Mohana Rao , Xu Zhiyuan , Vance Mary Lee , Sheehan Jason P
Published: July 2017

BACKGROUND

Nelson's syndrome may be a devastating complication for patients with Cushing's disease who underwent a bilateral adrenalectomy. Previous studies have demonstrated that stereotactic radiosurgery (SRS) can be used to treat patients with Nelson's syndrome.

OBJECTIVE

To report a retrospective study of patients with Nelson's syndrome treated with Gamma Knife radiosurgery to evaluate the effect of SRS on endocrine remission and tumor control.

METHODS

Twenty-seven patients with Nelson's syndrome treated with Gamma Knife radiosurgery after bilateral adrenalectomy were included in this study. After radiosurgery, patients were followed with serial adrenocorticotropic hormone (ACTH) levels and MRI sequences to assess for endocrine remission and tumor control. Cox proportional hazards regression analysis was used to evaluate the relationship between the time to remission and potential prognostic factors.

RESULTS

In 21 patients with elevated ACTH prior to SRS and endocrine follow-up data, 14 (67%) had decreased or stable ACTH levels, and 7 achieved a normal ACTH level at a median of 115 mo (range 7-272) post-SRS. Tumor volume was stable or reduced after SRS in 92.5% of patients (25/27) with radiological follow-up. Time to remission was not significantly associated with the ACTH prior to SRS (P = .252) or with the margin dose (P = .3). However, a shorter duration between the patient's immediate prior transsphenoidal resection and SRS was significantly associated with a shorter time to remission (P = .045).

CONCLUSION

This retrospective analysis suggests that SRS is an effective means of achieving endocrine remission and tumor control in patients with Nelson's syndrome.
Genotyping-by-Sequencing-Based Genetic Analysis of African Rice Cultivars and Association Mapping of Blast Resistance Genes Against Magnaporthe oryzae Populations in Africa
Authors: Mgonja Emmanuel M. , Park Chan Ho , Kang Houxiang , Balimponya Elias G. , Opiyo Stephen , Bellizzi Maria , Mutiga Samuel K. , Rotich Felix , Ganeshan Veena Devi , Mabagala Robert , Sneller Clay , Correll Jim , Zhou Bo , Talbot Nicholas J. , Mitchell Thomas K. , Wang Guo-Liang
Published: July 2017

Understanding the genetic diversity of rice germplasm is important for the sustainable use of genetic materials in rice breeding and production. Africa is rich in rice genetic resources that can be utilized to boost rice productivity on the continent. A major constraint to rice production in Africa is rice blast, caused by the hemibiotrophic fungal pathogen Magnaporthe oryzae. In this report, we present the results of a genotyping-by-sequencing (GBS)-based diversity analysis of 190 African rice cultivars and an association mapping of blast resistance (R) genes and quantitative trait loci (QTLs). The 190 African cultivars were clustered into three groups based on the 184K single nucleotide polymorphisms generated by GBS. We inoculated the rice cultivars with six African M. oryzae isolates. Association mapping identified 25 genomic regions associated with blast resistance (RABRs) in the rice genome. Moreover, PCR analysis indicated that RABR_23 is associated with the Pi-ta gene on chromosome 12. Our study demonstrates that the combination of GBS-based genetic diversity population analysis and association mapping is effective in identifying rice blast R genes/QTLs that contribute to resistance against African populations of M. oryzae. The identified markers linked to the RABRs and 14 highly resistant cultivars in this study will be useful for rice breeding in Africa.
Postoperative Pyoderma Gangrenosum in Children: The Case Report of a 13-Year-Old Boy With Pyoderma Gangrenosum After Hip Reconstruction Surgery and a Review of the Literature
Authors: Berger Nina , Ebenhoch Michael , Salzmann Maya
Published: July 2017

Background:

Postoperative pyoderma gangrenosum (PG) is a neutrophilic dermatosis and pathergic reaction at surgical sites. Reports of children with postoperative PG are rare in the literature.

Methods:

We report the case of a 13-year-old boy without any known preexisting illnesses, who developed severe systemic response and wound deterioration after elective hip reconstruction surgery. The working diagnosis of necrotizing fasciitis was later determined to be postoperative PG.

Results:

The patient was successfully treated by the systemic application of corticosteroids.

Conclusions:

Postoperative PG is a very rare complication after surgery, especially in children. If mistaken for necrotizing fasciitis, it can substantially mutilate a patient because PG is worsened by surgical debridement. It can be treated successfully only by corticosteroids and other immunosuppressive drugs.

Level of Evidence:

Level IV—this is a case report.
Suppression of Sympathetic Nerve Sprouting by Local Administration of an α-antagonist Around the Dorsal Root Ganglion in a Lumbar Radiculopathy Model
Authors: Ogon Izaya , Takebayashi Tsuneo , Miyakawa Tsuyoshi , Iwase Takehito , Tanimoto Katsumasa , Terashima Yoshinori , Jimbo Syunsuke , Kobayashi Takeshi , Tohse Noritsugu , Yamashita Toshihiko
Published: July 2017

Study Design.

Animal experimental study with intervention.

Objective.

The purpose of this study was to elucidate whether local administration of an α-antagonist around the dorsal root ganglion (DRG) suppressed sympathetic nerve sprouting, from the acute to the chronic pain development phase, in a lumbar radiculopathy model using immunohistochemical methods.

Summary of Background Data.

The abnormal sympathetic-somatosensory interaction may underlie some forms of neuropathic pain. There were several reports suggesting α-antagonists are effective to treat neuropathic pain. However, its pathophysiological mechanisms remain obscure.

Methods.

We used 70 male Sprague-Dawley rats. After root constriction (RC), rats received a series of three local injections of the nonselective α-antagonist phentolamine around the DRG for 3 days. There were three groups of rats: those that were injected from the day of surgery and those injected from day 4 and third group injected from day 11. The control rats were subjected to RC but equal-volume normal saline injections, and the naïve rats were not subjected to any surgical procedures. At the 14th postoperative day, the left L5 DRG was removed, embedded in paraffin, and sectioned. Sections were then immunostained with antibodies to tyrosine hydroxylase (TH). To quantify the extent of the presence of sympathetic nerve fibers, we counted TH-immunoreactive fibers in the DRG using a light microscope equipped with a micrometer graticule. We counted the squares of the graticule, which contained TH-immunoreactive fibers for each of five randomly selected sections of the DRG.

Results.

In the naïve group, TH-immunoreactive fibers were scarce in the DRG. α-antagonist injections from postoperative day 0 and 4 suppressed sympathetic nerve sprouting compared with the control group. α-antagonist injections from postoperative day 11 had no suppressant effect compared with the control group.

Conclusion.

The α-antagonist administered around the DRG could suppress neural plastic changes in the early phase after nerve injury.

Level of Evidence: N/A
Does an Annular Puncture Influence the Herniation Path?
Authors: van Heeswijk Vonne M. , Thambyah Ashvin , Robertson Peter A. , Broom Neil D.
Published: July 2017

Study Design.

A study of mechanically induced herniation in punctured ovine discs followed by structural analysis.

Objective.

To investigate whether an annular puncture influences the path that herniation takes by providing direct passage for nucleus through the annulus and therefore whether it increases the risk of acute herniation from overload at the site of damage independent of any longer-term degeneration.

Summary of Background Data.

Ten years after treatment with discography both degenerative changes and frequency of herniation have been shown to increase compared to untreated discs. Although the effect of an annular puncture over time has been widely investigated the question of whether it increases the risk of acute herniation has not been resolved.

Methods.

The posterolateral annuli of healthy ovine lumbar discs were punctured with either a 25-gauge (n = 8) or a larger 18-gauge (n = 8) needle and then compressed in a flexed posture of 10° until initial indications of failure. The entire volume of the disc was visually assessed for structural damage by obtaining progressive, full transverse cross-sections of its entire height thus exposing all regions of the disc.

Results.

There was no association between the 25-gauge puncture and disc disruption and herniation. In contrast, nuclear material was observed to migrate through the 18-gauge needle puncture. Disruption of the lateral inner annulus was observed in 12 out of the 16 discs tested.

Conclusion.

The risk of acute herniation through the puncture site is dependent on the needle diameter used. Under the conditions employed the lateral inner annulus remains the site most vulnerable to disruption independent of the presence of a posterolateral puncture.

Level of Evidence: N /A
Meningeal melanomatosis following discontinuation of dabrafenib: implications for the maintenance of long-term complete remission
Authors: Grätz Victoria , Lüttmann Nadine , Haase Ozan , Langan Ewan A. , Kemmling André , Zillikens Detlef , Terheyden Patrick
Published: July 2017

A subset of 10–20% of patients under continuous BRAF inhibitor monotherapy achieve long-term progression-free and overall survival. Definitive criteria for the safe cessation of BRAF inhibitor monotherapy in treatment-responsive melanoma patients are lacking. We report a patient who remained in complete remission (CR) for 5 years under dabrafenib. The treatment was withdrawn because of concerns about cardiac toxicity. Four months thereafter the patient developed neurological symptoms, including diplopia and bilateral visual loss. Meningeal melanomatosis and parenchymal brain metastases were diagnosed. Extracerebral metastases were excluded. Reinduction of dabrafenib, combined with trametinib, led to the rapid relief of the neurological symptoms, and a partial remission was confirmed radiologically. Unfortunately, the response was not maintained and the patient died 9 months later. This observation demonstrates that discontinuation of BRAF inhibition can result in loss of disease control. On the basis of this observation, we suggest that BRAF-targeted therapy should be withdrawn only when the risks of continued treatment exceed the risk for disease relapse. However, future studies are urgently required to confirm and quantify the risk for rapid disease relapse following withdrawal of BRAF inhibitor monotherapy.
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30
Authors: Wang Michael L. , Chan May P.
Published: July 2017

Distinction of chilblain lupus erythematosus (CLE) from idiopathic perniosis (IP) could predict an underlying connective tissue disease; however, histopathologic discrimination of the two is difficult. Increased CD123+ plasmacytoid dendritic cells and CD30+ lymphocytes have been demonstrated in various forms of cutaneous lupus erythematosus and IP, respectively. To our knowledge, CD123 and CD30 have not been examined in CLE. Our objective was to identify helpful histopathologic and immunohistochemical features in distinguishing CLE and IP. Skin biopsies classified as CLE (n = 20) and IP (n = 39) based on clinicopathologic correlation were collected from 2000 to 2015. Various histopathologic features were examined on hematoxylin and eosin and alcian blue stains. CD123 and CD30 immunostains were performed and characterized. We identified dermal interstitial fibrin exudate (P = 0.0352) and increased dermal mucin (P = 0.0002) as features significantly associated with CLE. Other histopathologic features and CD123 failed to distinguish between groups. CD30+ lymphocytes were sparse in all cases. Despite being the largest series of CLE and IP to date, the number of CLE cases in this study remained relatively limited, and some patients in the IP group may have yet to develop diagnostic features of systemic lupus erythematosus. In conclusion, histopathologic distinction between CLE and IP remains challenging. Interstitial fibrin and abundant dermal mucin help favor CLE. The number and distribution of CD123+ plasmacytoid dendritic cells and CD30+ lymphocytes have no discriminatory role.
Restrictions and limitations after pelvic floor surgery: what's the evidence?
Authors: Murphy Miles
Published: July 2017

Purpose of review

A common concern regarding pelvic floor surgery is the relatively high risk of recurrence. In an effort to minimize this risk, many surgeons instruct their patients to avoid certain activities during the healing process so as not to damage the repair before proper healing has occurred. However, many of these restrictions have been historically based on little to no hard evidence. The purpose of this review is to present the latest evidence-based recommendations regarding restrictions and limitations after pelvic floor surgery.

Recent findings

The current review covers postoperative activities that could impact proper healing of a vaginal incision and of the strength of the reconstruction itself. It also looks at safety of the patient and those around her as she heals. Topics include pelvic rest, swimming, lifting exercising, working, and driving. Observational research suggests that many unavoidable activities of daily living may have as great, if not an even greater, risk of impacting the healing process than many of the modifiable activity restrictions that are commonly imposed on patients. This may explain why recent clinical trials show no greater problem with healing in patients randomized to less strict postoperative restrictions than the standard.

Although further research is necessary, it appears that patients are more satisfied with less strict postoperative limitations, and this less restrictive activity may not have any significant negative impact on the healing process.
Vent Incisions to Facilitate Peripheral Unfolding of the DMEK Graft
Authors: Liu Christopher , Vasquez-Perez Alfonso , Chervenkoff Jordan Vassileff , Avadhanam Venkata
Published: July 2017

Purpose:

To present the results of 15 cases in which a modified technique of Descemet membrane endothelial keratoplasty (DMEK) with vent incisions was used to assist unfolding of tight peripheral inward folds.

Methods:

This is a retrospective case series of 15 consecutive eyes that underwent a modified vent incision technique for DMEK. Six oblique, small-size (1 mm) vent incisions parallel to the limbus and 3.5 mm from the center were performed after descemetorhexis. The graft was opened with standard no-touch techniques and was partially attached to the stroma with air injection. Then, in cases with remaining tight inward folds despite gentle corneal tapping, jets of balanced salt solution were pulsed through the vent incisions directed at the peripheral folds to achieve complete unfolding.

Results:

Descemet membrane endothelial keratoplasty was performed in 2 phakic eyes (14%) and 13 pseudophakic eyes (86%). Six cases (40%) required fluid injection through the vent incisions: 3 corresponded to grafts from younger donors (54, 41, and 29 years old), and 3 had a 9.0-mm-sized graft. Complete graft unfolding was successfully achieved in 14 cases (93%), and in 1 case (7%), peripheral folds remained because of spontaneous bleeding in the anterior chamber. A clear cornea was achieved in all cases, and there were no postoperative complications associated with the vent incisions.

Conclusions:

This technique provides a different DMEK no-touch approach that could be used in challenging cases of graft unfolding such as young donors and/or large-sized grafts. It may also avoid excessive unfolding times and direct manipulation that are related to higher endothelial cell loss.
Comparison of Glaucoma Progression Between Unilateral and Bilateral Disc Hemorrhage Eyes and Associated Risk Factors for Progression
Authors: Seol Bo Ram , Kim Young Kook , Jeoung Jin Wook , Park Ki Ho
Published: July 2017

Purpose:

To compare glaucoma progression between unilateral and bilateral disc hemorrhage (DH) eyes and to determine the associated risk factors.

Methods:

A total of 78 bilateral primary open-angle glaucoma (POAG) patients who had shown one or more occurrences of DH (48 eyes of 38 unilateral DH patients and 30 eyes of 30 bilateral DH patients) were included. Glaucoma progression was defined by visual field (VF) deterioration. The mean VF global indices progression rates in the pre-DH, post-DH and total follow-up periods were compared between the unilateral and bilateral DH groups. The cumulative probability of glaucoma progression between the 2 groups was compared by the Kaplan-Meier survival analysis. Univariate and multivariate Cox proportional hazard models were used to identify the risk factors for glaucoma progression.

Results:

Among the mean VF global indices progression rates, only the mean pattern standard deviation progression rate showed a statistically significant difference between the groups (unilateral DH group: 0.30±0.38 dB/y; bilateral DH group: 0.13±0.27 dB/y) (P=0.042). The Kaplan-Meier analysis revealed a greater cumulative probability of progression in the unilateral than in the bilateral DH group (P=0.008). The multivariate Cox’s proportional hazard model indicated unilaterality of DH to be a factor associated with glaucoma progression (hazard ratio, 2.587; P=0.030).

Conclusions:

In bilateral POAG patients with DH, unilaterality of DH is associated with glaucoma progression. Therefore, clinicians need to perform careful and frequent follow-up on bilateral POAG patients showing DH in only 1 eye during the follow-up period.
Severe Lower Respiratory Tract Infection Caused by Human Bocavirus 1 in an Infant
Authors: Eskola Vesa , Xu Man , Söderlund-Venermo Maria
Published: July 2017

We report a case of human bocavirus 1 (HBoV1) bronchiolitis that led to life-threatening respiratory failure in a 9-month-old boy with no other pathogens detected. The virus-specific diagnosis was confirmed with the detection of HBoV1 DNA in respiratory samples and both DNA and IgM and IgG to HBoV1 in serum samples.
Predictive Factors for Hearing Outcomes After Canaloplasty in Patients With Congenital Aural Atresia
Authors: Ahn Jungmin , Baek Sun Young , Kim Kyunga , Cho Yang-Sun
Published: July 2017

Objective:

The aim of this study was to determine the most important factors in preoperative imaging, including components of Jahrsdoefer score (J score), and favorable prognostic factors for postoperative hearing results after canaloplasty for congenital aural atresia.

Study Design:

Retrospective review of medical records.

Setting, Patients, Intervention, Main Outcome Measure:

One hundred eight patients who underwent canaloplasty by a single surgeon between January 2011 and July 2014 were included. The influence of the following factors on the success for restoring of hearing was evaluated by univariable and multivariable logistic regression analyses: sex, atretic side, total J score, each component of Jahrsdoerfer grading scale, incudostapedial joint angle, inferior displacement of the tegmen, middle ear height, and inner ear anomaly.

Results:

Successful hearing outcome was defined as postoperative air conduction ≤40 dB at 3 months after surgery, and it was achieved in 74 of 108 ears (70.5%). Univariable analysis revealed that the total J score, course of the facial nerve, presence of the malleus-incus complex, pneumatization of the mastoid, and middle ear height were significant as favorable predictive factors. Multivariable analysis revealed that middle ear height and inferior displacement of the tegmen were significant as favorable predictive factors. Inferior displacement of the tegmen was the most significant factor by the stepwise selection method in the final model.

Conclusion:

Middle ear height and inferior displacement of the tegmen are useful factors in predicting favorable hearing results after canaloplasty for congenital aural atresia. These factors might have a useful prognostic value supplementary to the J score.
Use of Colorectal Cancer Screening Among People With Mobility Disability
Authors: Gofine Miriam , Mielenz Thelma J. , Vasan Sowmya , Lebwohl Benjamin
Published: July 2017

Goals:

We aimed to assess use of colorectal cancer screening (CRCS) as per United States Preventive Task Force guidelines among people with mobility disability using a nationally representative data set.

Background:

Individuals with mobility disability have decreased access to health care services, but the impact of mobility disability on CRCS has not been investigated.

Study:

Data from the 2013 National Health Interview Survey were used to estimate sociodemographic characteristics of adults with mobility disability, prevalence of CRCS, and odds of CRCS given mobility disability among Americans aged 50 to 75.

Results:

In total, 56.8% of the entire sample (n=81,953,585) were up-to-date with CRCS. Mobility disability was not associated with CRCS status on univariable analysis but was significantly associated after adjustment for covariates including age and comorbidities, with an inverse relationship between the degree of mobility disability and odds of CRCS. Odds ratio for CRCS given progressively severe disability were 0.78 (0.66 to 0.93), 0.71 (0.53 to 0.94), 0.65 (0.31 to 1.19).

Conclusions:

The present study indicates reduced CRCS among people with mobility disability and highlights the need for CRCS to be especially targeted toward this group. Future research should identify the specific systemic, social, and/or physical barriers to CRCS for this subgroup so that they can be addressed.
Factors Associated With Classification of Hyperplastic Polyps as Sessile Serrated Adenomas/Polyps on Morphologic Review
Authors: Anderson Joseph C. , Lisovsky Mikhail , Greene Mary A. , Hagen Catherine , Srivastava Amitabh
Published: July 2017

Background:

Distinguishing sessile serrated adenomas/polyp (SSA/P), a subset of serrated polyps, from hyperplastic polyps (HPs) remains a challenge and has surveillance implications. Our goal was to identify clinical and pathologic factors associated with serrated polyps originally read as HPs being reassessed as SSA/Ps versus confirmed as HPs.

Methods:

Data were collected from consecutive patients with a right-sided HP and a corresponding comparison group with conventional adenomas between 1993 and 2003. Two experienced gastrointestinal pathologists, blinded to polyp and clinical factors, reinterpreted the HPs using current SSA/P classification criteria. These HPs were classified as SSA/P when diagnostic histologic feature(s) were present in at least 3 crypts. Analyses, conducted on a per polyp basis, examined the factors associated with risk of individual HPs being reassessed as SSA/Ps as opposed to being confirmed as HPs.

Results:

Of the 702 HPs (355 adults), 188 (26.8%) were reclassified as SSA/Ps. Predictors of HPs being reinterpreted as SSA/Ps included: size ≥5 mm [odds ratio (OR), 2.09; 95% confidence interval (CI), 1.34-3.26], proximal location (OR, 2.83; 95% CI, 1.69-4.74), synchronous adenomas with advanced pathology (OR, 2.61; 95% CI, 1.22-5.55) and ≥1 synchronous HPs (other than HP being reassessed) reclassified as SSA/Ps (OR, 11.76; 95% CI, 6.75-20.49).

Conclusions:

Because HP versus SSP is not very reproducible the predictors of SSA/P that we identified, including size, location, and synchronous lesions, can offer some additional help to endoscopists when determining surveillance intervals in patients with serrated polyps. In addition, observed association between SSA/P with advanced conventional neoplasia (but not low-grade adenomas) suggests 2 distinct groups of patient predisposition, one with both advanced conventional and important serrated precursors (SSA/P) and the other largely restricted to nonadvanced conventional adenomas and HPs only. Whether the association reported here has to do with SSA/P diagnosis per se or generally larger size of SSA/P remains to be determined in future studies.
Sacral Neuromodulation for Fecal Incontinence
Authors: Janssen Paul T.J. , Komen Niels , Melenhorst Jarno , Bouvy Nicole D. , Jahanshahi Ali , Temel Yasin , Breukink Stephanie O.
Published: July 2017

Objective:

Fecal incontinence (FI) has a devastating effect on the quality of life and results in social isolation. Sacral neuromodulation (SNM) is proven to be an effective, minimal invasive treatment modality for FI. Despite the increasing application of SNM, the exact mechanisms of action remain unclear. The initial assumption of peripheral motor neurostimulation is not supported by increasing evidence, which report effects of SNM outside the pelvic floor. A new hypothesis states that afferent signals to the brain are essential for a successful therapy. This study aimed to review relevant studies on the central mechanism of SNM in FI.

Methods:

Clinical and experimental studies on the central mechanisms, both brain and spinal cord, of SNM for FI up to December 2015 were evaluated.

Results:

In total, 8 studies were found describing original data on the central mechanism of SNM for FI. Four studies evaluated the central effects of SNM in a clinical setting and 4 studies evaluated the central effects of SNM in an experimental animal model. Results demonstrated a variety of (sub)cortical and spinal changes after induction of SNM.

Conclusion:

Review of literature demonstrated evidence for a central mechanism of action of SNM for FI. The corticoanal pathways, brainstem, and specific parts of the spinal cord are involved.
The Impact of the Affordable Care Act’s Dependent Coverage Mandate on Use of Dental Treatments and Preventive Services
Authors: Shane Dan M. , Wehby George L.
Published: July 2017

Background:

Oral health problems are the leading chronic conditions among children and younger adults. Lack of dental coverage is thought to be an important barrier to care but little empirical evidence exists on the causal effect of private dental coverage on use of dental services. We explore the relationship between dental coverage and dental services utilization with an analysis of a natural experiment of increasing private dental coverage stemming from the Affordable Care Act’s (ACA)-dependent coverage mandate.

Objectives:

To evaluate whether increased private dental insurance due to the spillover effect of the ACA-dependent coverage health insurance mandate affected utilization of dental services among a group of affected young adults.

Data:

2006–2013 Medical Expenditure Panel Surveys.

Study Design:

We used a difference-in-difference regression approach comparing changes in dental care utilization for 25-year olds affected by the policy to unaffected 27-year olds. We evaluate effects on dental treatments and preventive services

Results:

Compared to 27-year olds, 25-year olds were 8 percentage points more likely to have private dental coverage in the 3 years following the mandate. We do not find compelling evidence that young adults increased their use of preventive dental services in response to gaining insurance. We do find a nearly 5 percentage point increase in the likelihood of dental treatments among 25-year olds following the mandate, an effect that appears concentrated among women.

Conclusions:

Increases in private dental coverage due to the ACA’s-dependent coverage mandate do not appear to be driving significant changes in overall preventive dental services utilization but there is evidence of an increase in restorative care.
Plasma Cell Myeloma in Children and Young Adults: A Report of 4 Cases From a Single Institution and a Review of the Literature
Authors: Yohe Sophia , Luquette Mark , Lund Troy C. , Turcotte Lucie M. , Dolan Michelle , McKenna Robert W.
Published: July 2017

Plasma cell myeloma (PCM) is rare in children and young adults and therefore may be difficult to diagnose. Here we report the clinicopathologic findings of 4 patients under the age of 30 diagnosed with PCM at our institution and summarize the literature about 48 other cases of PCM in this age group. The male:female ratio was 1.2:1 and the number of cases increased with age. Children and young adults with PCM often present with a plasmacytoma and are less likely to have asymptomatic PCM than their adult counterparts. From the cases that reported ethnicity, the majority (55%) were non-white suggesting a possible ethnic predisposition to PCM in this age group. PCM should be included in the differential diagnosis of mass lesions, especially a destructive bony lesion, after more common causes have been ruled out in this age group. The optimal treatment for PCM in this patient population is unclear and conclusions into this are hampered by the paucity of cases and the lack of standardized follow-up.
Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future
Authors: Tüfekçi Özlem , Atabay Berna , Türker Meral , Yilmaz Bengoa Şebnem , Gözmen Salih , Karapinar Tuba , Ören Hale , İrken Gülersu
Published: July 2017

The increased awareness about the severity of complications in thalassemia intermedia patients led authorities to develop strategies for better management and follow-up of these patients. In this study, we aimed to define the clinical and laboratory characteristics in previously followed-up β-thalassemia intermedia patients and wanted to gain an insight about the follow-up of this patient population in a developing country to provide them better care in the future. The mean age at diagnosis was 4 years, and the mean hemoglobin was 7.13 g/dL. The mean age at the beginning of regular transfusion was 4.8 years. An overall 74% of patients were on a regular transfusion program. The mean ferritin values at diagnosis and the last follow-up were 487 and 1225 ng/mL, respectively. The most common mutations detected in patients were IVS-I-110, IVS-I-6, IVS-II-1, and FCS 8/9 in order of frequency. Complications were seen in 48% of patients. The most common complications were osteopenia/osteoporosis (34%), growth retardation (24%), hypogonadism (18%), and cardiomyopathy (13%). In conclusion, the relatively higher complication rate in our patients who were previously treated highlights once again the need for an increased effort for optimal management and follow-up of this specific group of patients.
Detection of Putative Stem-cell Markers in Invasive Ductal Carcinoma of the Breast by Immunohistochemistry: Does It Improve Prognostic/Predictive Assessments?
Authors: Oliveira Rodrigo V. , Souza Valéria B. , Souza Philipi C. , Soares Fernando A. , Vassallo José , Rocha Rafael M. , Schenka André A.
Published: July 2017

Introduction:

Experimental evidences from the last 2 decades supports the existence of a special type of neoplastic cell with stem-like features [cancer stem cell (CSC)] and their role in the pathophysiology and therapeutic resistance of breast cancer. However, their clinical value in human breast cancer has not been fully determined.

Materials and Methods:

An immunohistochemistry panel of 10 putative CSC markers (CD34, C-KIT, CD10, SOX-2, OCT 3/4, p63, CD24, CD44, CD133, and ESA/EPCAM) was applied to 74 cases of breast cancer, followed in a Regional Cancer Center of Minas Gerais State, Brazil, from 2004 to 2006. Possible associations between CSC markers and classic variables of clinicopathologic relevance were investigated.

Results:

The most frequently positive CSC markers were CD44, CD24, CD133, and ESA (the others were present in <15% of the cases). Two CSC profiles were defined: CD24−/CD44+(CSC-1) and CD133+/ESA+(CSC-2). CSC-1 was significantly associated to patients older than 40 years, tumors of <2.0 cm in diameter, early clinical stages (P<0.05), and increased death risk of 4 times (P=0.03; 95% confidence interval, 1.09-14.41). CSC-2 was related to increased relapse risk of 3.75 times (P=0.04; 95% confidence interval, 1.02-13.69).

Conclusion:

The detection of the most frequently positive CSC markers by immunohistochemistry is of clinicopathologic and prognostic relevance.
Social Media and Pathology: Where Are We Now and Why Does it Matter?
Authors: Isom James , Walsh Meggen , Gardner Jerad M.
Published: July 2017

Social media has exploded in popularity in recent years. It is a powerful new tool for networking, collaborating, and for the communication and evolution of ideas. It has been increasingly used for business purposes and is now being embraced by physicians including pathologists. Pathology professional organizations and even peer-reviewed pathology journals are now beginning to use social media, as well. There are multiple social media platforms, including Twitter, Facebook, Instagram, LinkedIn, and others. Each platform has different audiences and different ways to share content and interact with other users. This paper discusses the different social media platforms and how they are being used in pathology currently.
A Review of Nonfatal Drowning in the Pediatric-Age Group
Authors: Al-Qurashi Faisal O. , Yousef Abdullah A. , Aljoudi Abdullah , Alzahrani Saleh M. , Al-Jawder Nasser Y. , Al-Ahmar Abdulrahman K. , Al-Majed Mosab S. , Abouollo Hussam M.
Published: July 2017

Objective

The aim of this study was to evaluate the nonfatal drowning experience, risk factors, intrahospital assessment and postincidental outcomes for children admitted to King Fahd Hospital of the University, AlKhobar, Saudi Arabia, over a 10-year period.

Methods

Children up to the age of 14 years who were admitted with the diagnosis of nonfatal drowning from July 2005 to June 2015 were included. Data regarding demographics, timing, season and location of drowning, presence of an assigned lifeguard, duration of submersion and transport to hospital, cardiopulmonary resuscitation, initial Glasgow Coma Scale, temperature, pH, blood sugar level, total hospital stay, and discharge status were extrapolated, and their effects on the patient’s outcome analyzed. Patients’ outcomes were classified into either full recovery, moderate to severe neurological damage, or brain death.

Results

Fifty-one subjects were included in the study; 66.7% were males, 57% were younger than 6 years, and 80% were Saudi citizens. Of the total cases, 94% recovered fully, and 6% were diagnosed as having brain death or discharged from the intensive care unit with severe neurological injury. Submersion time of more than 5 minutes, Glasgow Coma Scale of 4 or less, pH of less than 7.1, temperature of 35°C or less, and blood sugar of 180 mg/dL or greater were found to correlate with bad outcomes with great statistical significance.

Conclusions

The findings of this study were in line with results of most of the international and local studies on the subject. Significant defects have been concluded in prehospital medical care and cardiopulmonary resuscitation. Adequate swimming safety regulations, assignments of lifeguards, and parental education should be taken into consideration by media and involved authorities.
A Rare Pediatric Case of Posttraumatic Pseudoaneurysm
Authors: Gu Ada , Kam April J.
Published: July 2017

Posttraumatic pseudoaneurysms are extremely rare in pediatric populations. In many cases, pseudoaneurysms may be confused with abscesses, epidermoid cysts, arteriovenous fistula, foreign objects, and ganglion cysts, as well as tumors. They are associated with distinguishing findings of “pulsatile mass, a palpable thrill, and an audible to-and-fro murmur” (1), which can be confirmed by various imaging techniques. In this report, we describe the case of a 4-year-old boy who presented to the pediatric emergency department 3 weeks after falling and subsequently getting cut by glass. Upon clinical examination, the patient presented with pulsatile, swollen mass in the left wrist. A Doppler ultrasound of the left wrist demonstrated that the area of clinical concern in the left wrist showed a pseudoaneurysm, and prominent arterial blood flow was seen within the pseudoaneurysm. Because pseudoaneurysms, particularly posttraumatic pseudoaneurysms, are extremely rare in the pediatric population, it may be easy to miss these cases during clinical examination. Misdiagnosis of the pseudoaneurysm can cause delayed treatment, a longer recovery period, and complications such as infection, rupture, and hemorrhage. It is important for physicians to consider this entity when evaluating patients with symptoms of asymptomatic bulges to painful pulsatile masses after trauma.
Difficult Intubation and Ventilation in an Infant With Retropharyngeal Abscess With Mediastinal Extension
Authors: Bruno Michael A. , Drabek Tomas , Manole Mioara D.
Published: July 2017

A previously healthy 7-month-old male infant presented for evaluation of fever, deceased oral intake, and intermittent noisy breathing. Physical examination revealed neck tenderness. Soft tissue neck radiographs and computed tomography (CT) scan supported a diagnosis of retropharyngeal swelling with extension to the superior mediastinum. Surgical exploration was planned, and endotracheal intubation was performed in the operating room. Significant cardiorespiratory derangements developed immediately after the tracheal tube was inserted, including hypotension, hypoxia, and bradycardia with signs of cardiac ischemia. The patient was resuscitated with intravenous fluids, vasopressors, and bronchodilators; his condition improved after resuscitation and surgical evacuation of purulent material. A combination of mediastinal mass effect, aspiration, and bronchospasm likely contributed to the patient’s deterioration. The subsequent clinical course was uneventful. The patient was extubated in a delayed fashion and discharged on the fourth postoperative day. This case highlights the importance of preparing for a difficult airway in cases of retropharyngeal abscesses that necessitate tracheal intubation. A multidisciplinary approach is best suited to manage the airway, preferably in the operating room.
Amitraz
Authors: Shashidhara Sowmya , Mundkur Suneel C. , Hebbar Shrikiran A. , Kumar Ashwini , Sambasivan Vaisakh
Published: July 2017

Amitraz is an acaricide and insecticide used to treat ticks, which infest domestic animals in developing countries. Because of its widespread use, it is one of the common poisons unintentionally consumed by infants and children when left unsupervised. A 3-year-old boy was brought with unintentional consumption of Amitraz. On examination, he was found to be progressively drowsy, with an irregular pulse, bradycardia, and hypotension. He was treated with atropine, intravenous fluids, and dopamine infusion; hemodynamic stability was achieved within 36 hours after ingestion. Amitraz is an unusual but deadly poison unintentionally consumed by children. It can be suspected in the setting of rural households in developing countries having pets. There is no antidote available, and treatment is mainly supportive.
3-Hydroxyisobutyryl-CoA hydrolase involved in isoleucine catabolism regulates triacylglycerol accumulation in
Phaeodactylum tricornutum
Authors: Pan Yufang , Yang Juan , Gong Yangmin , Li Xiaolong , Hu Hanhua
Published: July 2017

Since methylmalonyl-CoA epimerase appears to be absent in the majority of photosynthetic organisms, including diatoms, (S)-methylmalonyl-CoA, the intermediate of isoleucine (Ile) catabolism, cannot be metabolized to (R)-methylmalonyl-CoA then to succinyl-CoA. In this study,
propionyl-CoA carboxylase
(
PCC
) RNAi silenced strains and
3-hydroxyisobutyryl-CoA hydrolase
(
HIBCH
) overexpression strains were constructed to elucidate the Ile degradation pathway and its influence on lipid accumulation in
Phaeodactylum tricornutum
based on growth, neutral lipid content and metabolite profile analysis. Knockdown of
PCC
disturbed the metabolism of Ile through propionyl-CoA to methylmalonyl-CoA, as illustrated by much higher Ile content at day 6. However, Ile decreased to comparable levels to the wild-type at day 10.
PCC
silencing redirected propionyl-CoA to acetyl-CoA via a modified β-oxidation pathway, and transcript levels for some branched-chain amino acid (BCAA) degradation-related genes, especially
HIBCH
, significantly upregulated in the
PCC
mutant, which enhanced the BCAA degradations and thus resulted in higher triacylglycerol (TAG) content. Overexpression of HIBCH accelerates Ile degradation and results in a lowered Ile content in the overexpression strains, thus enhancing carbon skeletons to the tricarboxylic acid cycle and giving rise to increasing TAG accumulation. Our study provides a good strategy to obtain high-lipid-yield transgenic diatoms by modifying the propionyl-CoA metabolism.

This article is part of the themed issue ‘The peculiar carbon metabolism in diatoms’.
Towards an understanding of the molecular regulation of carbon allocation in diatoms: the interaction of energy and carbon allocation
Authors: Wagner Heiko , Jakob Torsten , Fanesi Andrea , Wilhelm Christian
Published: July 2017

In microalgae, the photosynthesis-driven CO
2
assimilation delivers cell building blocks that are used in different biosynthetic pathways. Little is known about how the cell regulates the subsequent carbon allocation to, for example, cell growth or for storage. However, knowledge about these regulatory mechanisms is of high biotechnological and ecological importance. In diatoms, the situation becomes even more complex because, as a consequence of their secondary endosymbiotic origin, the compartmentation of the pathways for the primary metabolic routes is different from green algae. Therefore, the mechanisms to manipulate the carbon allocation pattern cannot be adopted from the green lineage. This review describes the general pathways of cellular energy distribution from light absorption towards the final allocation of carbon into macromolecules and summarizes the current knowledge of diatom-specific allocation patterns. We further describe the (limited) knowledge of regulatory mechanisms of carbon partitioning between lipids, carbohydrates and proteins in diatoms. We present solutions to overcome the problems that hinder the identification of regulatory elements of carbon metabolism.

This article is part of the themed issue ‘The peculiar carbon metabolism in diatoms’.
Sub-kb resolution Hi-C in D.melanogasterreveals conserved characteristics of TADs between insect and mammalian cells
Authors: Wang Qi , Sun Qiu , Czajkowsky Daniel M. , Shao Zhifeng
Published: July 2017

Topologically associating domains (TADs) are fundamental elements of the 3D structure of the eukaryotic genome. However, while the structural importance of the insulator protein CTCF together with cohesin at TAD borders in mammalian cells is well established, the absence of such co-localization at most TAD borders in recent Hi-C studies ofD. melanogasteris enigmatic, raising the possibility that these TAD border elements are not generally conserved among metazoans. Usingin situHi-C with sub-kb resolution, we show that the genome ofD. melanogasteris almost completely partitioned into more than 4,000 TADs (median size, 13 kb), nearly 7-fold more than previously identified. The overwhelming majority of these TADs are demarcated by pairs ofDrosophilaspecific insulator proteins, BEAF-32/CP190 or BEAF-32/Chromator, indicating that these proteins may play an analogous role inDrosophilaas that of the CTCF/cohesin pair in mammals. Moreover, we find that previously identified TADs enriched for inactive chromatin are predominantly assembled from the higher-level interactions between smaller TADs. In contrast, the contiguous small TADs in regions previously thought to be unstructured “inter-TADs” are organized in an open configuration with far fewer TAD-TAD interactions. Such structures can also be identified in some “inter-TAD” regions of the mammalian genome, suggesting that larger assemblages of small self-associating TADs separated by a “burst” of contiguous small, weakly associating TADs may be a conserved, basic characteristic of the higher order folding of the metazoan genome.
Reconstruction and visualization of large-scale volumetric models of neocortical circuits for physically-plausible in silico optical studies
Authors: Abdellah Marwan , Hernando Juan , Antille Nicolas , Eilemann Stefan , Markram Henry , Schürmann Felix
Published: July 2017

BackgroundWe present a software workflow capable of building large scale, highly detailed and realistic volumetric models of neocortical circuits from the morphological skeletons of their digitally reconstructed neurons. The limitations of the existing approaches for creating those models are explained, and then, a multi-stage pipeline is discussed to overcome those limitations. Starting from the neuronal morphologies, we create smooth piecewise watertight polygonal models that can be efficiently utilized to synthesize continuous and plausible volumetric models of the neurons with solid voxelization. The somata of the neurons are reconstructed on a physically-plausible basis relying on the physics engine in Blender.

ResultsOur pipeline is applied to create 55 exemplar neurons representing the various morphological types that are reconstructed from the somatsensory cortex of a juvenile rat. The pipeline is then used to reconstruct a volumetric slice of a cortical circuit model that contains ∼210,000 neurons. The applicability of our pipeline to create highly realistic volumetric models of neocortical circuits is demonstrated with anin silicoimaging experiment that simulates tissue visualization with brightfield microscopy. The results were evaluated with a group of domain experts to address their demands and also to extend the workflow based on their feedback.

ConclusionA systematic workflow is presented to create large scale synthetic tissue models of the neocortical circuitry. This workflow is fundamental to enlarge the scale ofin siliconeuroscientific optical experiments from several tens of cubic micrometers to a few cubic millimeters.