R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.

J Med Case Rep. 2017 Feb 15;11(1):42

Authors: Villalona S, Glover-López G, Ortega-García JA, Moya-Quiles R, Mondejar-López P, Martínez-Romero MC, Rigabert-Montiel M, Pastor-Vivero MD, Sánchez-Solís M

Abstract
BACKGROUND: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense cystic fibrosis transmembrane conductance regulator mutation and we present their associated clinical histories.
CASE PRESENTATION: All three patients are of Spanish descent. Deoxyribonucleic acid analysis revealed that all three siblings possessed a novel c.742A>G mutation, resulting in a p.Arg248Gly (R248G) amino acid change in exon 6 in trans with the known N1303K mutant allele. Case 1 patient is a 39-year-old infertile man presenting with congenital unilateral absence of the vas deferens and recurrent episodes of epigastric pain. Case 2 patient is a 32-year-old woman presenting with periods of infertility, two previous spontaneous abortions, recurrent epigastric pain, and recurrent pancreatitis. Case 3 patient is a 29-year-old woman presenting with recurrent pancreatitis and epigastric pain.
CONCLUSIONS: We report the genotype-phenotype correlations and clinical manifestations of a novel R248G cystic fibrosis transmembrane conductance regulator mutation: congenital unilateral absence of the vas deferens in males, reduced female fertility, and recurrent acute pancreatitis. In addition, we discuss the possible functional consequences of the mutations at the molecular level.

PMID: 28196530 [PubMed - in process]

Spontaneous ultra-weak photon emission in correlation to inflammatory metabolism and oxidative stress in a mouse model of collagen-induced arthritis.

J Photochem Photobiol B. 2017 Feb 03;168:98-106

Authors: He M, van Wijk E, van Wietmarschen H, Wang M, Sun M, Koval S, van Wijk R, Hankemeier T, van der Greef J

Abstract
The increasing prevalence of rheumatoid arthritis has driven the development of new approaches and technologies for investigating the pathophysiology of this devastating, chronic disease. From the perspective of systems biology, combining comprehensive personal data such as metabolomics profiling with ultra-weak photon emission (UPE) data may provide key information regarding the complex pathophysiology underlying rheumatoid arthritis. In this article, we integrated UPE with metabolomics-based technologies in order to investigate collagen-induced arthritis, a mouse model of rheumatoid arthritis, at the systems level, and we investigated the biological underpinnings of the complex dataset. Using correlation networks, we found that elevated inflammatory and ROS-mediated plasma metabolites are strongly correlated with a systematic reduction in amine metabolites, which is linked to muscle wasting in rheumatoid arthritis. We also found that increased UPE intensity is strongly linked to metabolic processes (with correlation co-efficiency |r| value >0.7), which may be associated with lipid oxidation that related to inflammatory and/or ROS-mediated processes. Together, these results indicate that UPE is correlated with metabolomics and may serve as a valuable tool for diagnosing chronic disease by integrating inflammatory signals at the systems level. Our correlation network analysis provides important and valuable information regarding the disease process from a system-wide perspective.

PMID: 28199905 [PubMed - as supplied by publisher]

Deciphering tumor heterogeneity from FFPE tissues: Its promise and challenges.

Mol Cell Oncol. 2017;4(1):e1260191

Authors: Simmons AJ, Lau KS

Abstract
An impediment to the understanding of cancer is the heterogeneous nature of cell populations within a tumor microenvironment. We reported a method to query protein signaling in single epithelial cells from formalin-fixed paraffin-embedded (FFPE) colorectal cancer tissues. Here, we discuss the feasibility and limitations of this approach for investigating signaling state heterogeneity.

PMID: 28197533 [PubMed - in process]

Using the minimum description length principle to reduce the rate of false positives of best-fit algorithms.

EURASIP J Bioinform Syst Biol. 2014 Dec;2014:13

Authors: Fang J, Ouyang H, Shen L, Dougherty ER, Liu W

Abstract
The inference of gene regulatory networks is a core problem in systems biology. Many inference algorithms have been proposed and all suffer from false positives. In this paper, we use the minimum description length (MDL) principle to reduce the rate of false positives for best-fit algorithms. The performance of these algorithms is evaluated via two metrics: the normalized-edge Hamming distance and the steady-state distribution distance. Results for synthetic networks and a well-studied budding-yeast cell cycle network show that MDL-based filtering is more effective than filtering based on conditional mutual information (CMI). In addition, MDL-based filtering provides better inference than the MDL algorithm itself.

PMID: 28194163 [PubMed]

nala: text mining natural language mutation mentions.

Bioinformatics. 2017 Feb 13;:

Authors: Miguel Cejuela J, Bojchevski A, Uhlig C, Bekmukhametov R, Kumar Karn S, Mahmuti S, Baghudana A, Dubey A, Satagopam VP, Rost B

PMID: 28200120 [PubMed - as supplied by publisher]

A MeSH-based text mining method for identifying novel prebiotics.

Medicine (Baltimore). 2016 Dec;95(49):e5585

Authors: Shan G, Lu Y, Min B, Qu W, Zhang C

Abstract
Prebiotics contribute to the well-being of their host by altering the composition of the gut microbiota. Discovering new prebiotics is a challenging and arduous task due to strict inclusion criteria; thus, highly limited numbers of prebiotic candidates have been identified. Notably, the large numbers of published studies may contain substantial information attached to various features of known prebiotics that can be used to predict new candidates. In this paper, we propose a medical subject headings (MeSH)-based text mining method for identifying new prebiotics with structured texts obtained from PubMed. We defined an optimal feature set for prebiotics prediction using a systematic feature-ranking algorithm with which a variety of carbohydrates can be accurately classified into different clusters in accordance with their chemical and biological attributes. The optimal feature set was used to separate positive prebiotics from other carbohydrates, and a cross-validation procedure was employed to assess the prediction accuracy of the model. Our method achieved a specificity of 0.876 and a sensitivity of 0.838. Finally, we identified a high-confidence list of candidates of prebiotics that are strongly supported by the literature. Our study demonstrates that text mining from high-volume biomedical literature is a promising approach in searching for new prebiotics.

PMID: 27930574 [PubMed - indexed for MEDLINE]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/02/15

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

CHEER National Study of Chronic Rhinosinusitis Practice Patterns.

Otolaryngol Head Neck Surg. 2017 Feb 01;:194599817691476

Authors: Chapurin N, Pynnonen MA, Roberts R, Schulz K, Shin JJ, Witsell DL, Parham K, Langman A, Carpenter D, Vambutas A, Nguyen-Huynh A, Wolfley A, Lee WT

Abstract
Objectives (1) Describe national patterns of chronic rhinosinusitis (CRS) care across academic and community practices. (2) Determine the prevalence of comorbid disorders in CRS patients, including nasal polyposis, allergic rhinitis, asthma, and cystic fibrosis. (3) Identify demographic, clinical, and practice type factors associated with endoscopic sinus surgery (ESS). Study Design Multisite cross-sectional study. Setting Otolaryngology's national research network CHEER (Creating Healthcare Excellence through Education and Research). Subjects and Methods A total of 17,828 adult patients with CRS were identified, of which 10,434 were seen at community practices (59%, n = 8 sites) and 7394 at academic practices (41%, n = 10 sites). Multivariate logistic regression was used to evaluate the association between demographic, practice type, and clinical factors and the odds of a patient undergoing ESS. Results The average age was 50.4 years; 59.5% of patients were female; and 88.3% were Caucasian. The prevalence of comorbid diseases was as follows: allergic rhinitis (35.1%), nasal polyposis (13.3%), asthma (4.4%), and cystic fibrosis (0.2%). In addition, 24.8% of patients at academic centers underwent ESS, as compared with 12.3% at community sites. In multivariate analyses, nasal polyposis (odds ratio [OR], 4.28), cystic fibrosis (OR, 2.42), and academic site type (OR, 1.86) were associated with ESS ( P < .001), while adjusting for other factors. Conclusions We describe practice patterns of CRS care, as well as demographic and clinical factors associated with ESS. This is the first study of practice patterns in CRS utilizing the CHEER network and may be used to guide future research.

PMID: 28195023 [PubMed - as supplied by publisher]

Differential Responses of Human Dendritic Cells to Metabolites from the Oral/Airway Microbiome.

Clin Exp Immunol. 2017 Feb 14;:

Authors: Whiteson K, Agrawal S, Agrawal A

Abstract
Small molecule metabolites that are produced or altered by host-associated microbial communities are emerging as significant immune response modifiers. However, there is a key gap in our knowledge of how oral microbial metabolites affect the immune response. Here, we examined the effects of metabolites from five bacterial strains commonly found in the oral/airway microbial communities of humans. The five strains, each isolated from cystic fibrosis patient sputum, were Pseudomonas aeruginosa FLR01 non-mucoid (P1) and FLR02 mucoid (P2) forms, Streptococcus pneumoniae (Sp), Streptococcus salivarius (Ss), and Rothia mucilaginosa (Rm). The effect of bacterial metabolites on dendritic cell (DC) activation, T cell priming and cytokine secretion was determined by exposing DCs to bacterial supernatants and individual metabolites of interest. Supernatants from P1 and P2 induced high levels of TNF-α, IL-12 and IL-6 from DCs and primed T cells to secrete IFN-γ, IL-22 compared to supernatants from Sp, Ss and Rm. Investigations into the composition of supernatants using GC-MS revealed signature metabolites for each of the strains. Supernatants from P1 and P2 contained high levels of putrescine and glucose while Sp and Ss contained high levels of 2,3-butanediol. The individual metabolites replicated the results of whole supernatants though the magnitudes of their effects were significantly reduced. Altogether, our data demonstrate for the first time that the signature metabolites produced by different bacteria have different effects on DC functions. The identification of signature metabolites and their effects on the host immune system can provide mechanistic insights into diseases and may also be developed as biomarkers. This article is protected by copyright. All rights reserved.

PMID: 28194750 [PubMed - as supplied by publisher]

Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.

World J Pediatr. 2017 Feb 14;:

Authors: Ratkiewicz M, Pastore M, McCoy KS, Thompson R, Hayes D, Sheikh SI

Abstract
BACKGROUND: The cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with CF. Aim of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF diagnosis. CFTR mutational analysis results were also compared with sweat chloride results.
METHODS: This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August 2006.
RESULTS: A total of 315 patients underwent CFTR mutational analysis. Fifty-one (16.2%) patients had two mutations identified. Among them 32 had positive sweat chloride levels (≥60 mmol/L), while seven had borderline sweat chloride levels (40-59 mmol/L). An additional 70 patients (22.3%) had only one mutation identified. Among them eight had positive sweat chloride levels, and 17 had borderline sweat chloride levels. Fifty-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride results. Three patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride levels. In eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride testing.
CONCLUSIONS: Although CFTR mutation analysis has improved the diagnostic capability for CF, its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.

PMID: 28194692 [PubMed - as supplied by publisher]

Wearable Potentiometric Chloride Sweat Sensor: The Critical Role of the Salt Bridge.

Anal Chem. 2016 Dec 20;88(24):12241-12247

Authors: Choi DH, Kim JS, Cutting GR, Searson PC

Abstract
The components of sweat provide an array of potential biomarkers for health and disease. Sweat chloride is of interest as a biomarker for cystic fibrosis, electrolyte metabolism disorders, electrolyte balance, and electrolyte loss during exercise. Developing wearable sensors for biomarkers in sweat is a major technological challenge. Potentiometric sensors provide a relatively simple technology for on-body sweat chloride measurement, however, equilibration between reference and test solutions has limited the time over which accurate measurements can be made. Here, we report on a wearable potentiometric chloride sweat sensor. We performed parametric studies to show how the salt bridge geometry determines equilibration between the reference and test solutions. From these results, we show a sweat chloride sensor can be designed to provide accurate measurements over extended times. We then performed on-body tests on healthy subjects while exercising to establish the feasibility of using this technology as a wearable device.

PMID: 28193033 [PubMed - in process]

Genetic and biochemical changes of the serotonergic system in migraine pathobiology.

J Headache Pain. 2017 Dec;18(1):20

Authors: Gasparini CF, Smith RA, Griffiths LR

Abstract
Migraine is a brain disorder characterized by a piercing headache which affects one side of the head, located mainly at the temples and in the area around the eye. Migraine imparts substantial suffering to the family in addition to the sufferer, particularly as it affects three times more women than men and is most prevalent between the ages of 25 and 45, the years of child rearing. Migraine typically occurs in individuals with a genetic predisposition and is aggravated by specific environmental triggers. Attempts to study the biochemistry of migraine began as early as the 1960s and were primarily directed at serotonin metabolism after an increase of 5-hydroxyindoleacetic acid (5-HIAA), the main metabolite of serotonin was observed in urine of migraineurs. Genetic and biochemical studies have primarily focused on the neurotransmitter serotonin, considering receptor binding, transport and synthesis of serotonin and have investigated serotonergic mediators including enzymes, receptors as well as intermediary metabolites. These studies have been mainly assayed in blood, CSF and urine as the most accessible fluids. More recently PET imaging technology integrated with a metabolomics and a systems biology platform are being applied to study serotonergic biology. The general trend observed is that migraine patients have alterations of neurotransmitter metabolism detected in biological fluids with different biochemistry from controls, however the interpretation of the biological significance of these peripheral changes is unresolved. In this review we present the biology of the serotonergic system and metabolic routes for serotonin and discuss results of biochemical studies with regard to alterations in serotonin in brain, cerebrospinal fluid, saliva, platelets, plasma and urine of migraine patients.

PMID: 28194570 [PubMed - in process]

Polyfunctional and IFN-γ monofunctional human CD4(+) T cell populations are molecularly distinct.

JCI Insight. 2017 Feb 09;2(3):e87499

Authors: Burel JG, Apte SH, Groves PL, McCarthy JS, Doolan DL

Abstract
Pathogen-specific polyfunctional T cell responses have been associated with favorable clinical outcomes, but it is not known whether molecular differences exist between polyfunctional and monofunctional cytokine-producing T cells. Here, we report that polyfunctional CD4(+) T cells induced during Plasmodiumfalciparum (P. falciparum) blood-stage infection in humans have a unique transcriptomic profile compared with IFN-γ monofunctional CD4(+) T cells and, thus, are molecularly distinct. The 14-gene signature revealed in P. falciparum-reactive polyfunctional T cells is associated with cytokine signaling and lymphocyte chemotaxis, and systems biology analysis identified IL-27 as an upstream regulator of the polyfunctional gene signature. Importantly, the polyfunctional gene signature is largely conserved in Influenza-reactive polyfunctional CD4(+) T cells, suggesting that polyfunctional T cells have core characteristics independent of pathogen specificity. This study provides the first evidence to our knowledge that consistent molecular differences exist between polyfunctional and monofunctional CD4(+) T cells.

PMID: 28194431 [PubMed - in process]

The impact of micronutrient status on health: correlation network analysis to understand the role of micronutrients in metabolic-inflammatory processes regulating homeostasis and phenotypic flexibility.

Genes Nutr. 2017;12:5

Authors: van den Broek TJ, Kremer BH, Marcondes Rezende M, Hoevenaars FP, Weber P, Hoeller U, van Ommen B, Wopereis S

Abstract
BACKGROUND: Vitamins and carotenoids are key micronutrients facilitating the maintenance of health, as evidenced by the increased risk of disease with low intake. Optimal phenotypic flexibility, i.e., the ability to respond to a physiological challenge, is an essential indicator of health status. Therefore, health can be measured by applying a challenge test and monitoring the response of relevant phenotypic processes. In this study, we assessed the correlation of three fat-soluble vitamins, (i.e., vitamin A or retinol, vitamin D3, two homologues of vitamin E) and four carotenoids (i.e., α-carotene, β-carotene, β-cryptoxanthin, and lycopene), with characteristics of metabolic and inflammatory parameters at baseline and in response to a nutritional challenge test (NCT) in a group of 36 overweight and obese male subjects, using proteomics and metabolomics platforms. The phenotypic flexibility concept implies that health can be measured by the ability to adapt to a NCT, which may offer a more sensitive way to assess changes in health status of healthy subjects.
RESULTS: Correlation analyses of results after overnight fasting revealed a rather evenly distributed network in a number of relatively strong correlations per micronutrient, with minor overlap between correlation profiles of each compound. Correlation analyses of challenge response profiles for metabolite and protein parameters with micronutrient status revealed a network that is more skewed towards α-carotene and γ-tocopherol suggesting a more prominent role for these micronutrients in the maintenance of phenotypic flexibility. Comparison of the networks revealed that there is merely overlap of two parameters (inositol and oleic acid (C18:1)) affirming that there is a specific biomarker response profile upon NCT.
CONCLUSIONS: Our study shows that applying the challenge test concept is able to reveal previously unidentified correlations between specific micronutrients and health-related processes, with potential relevance for maintenance of health that were not observed by correlating homeostatic measurements. This approach will contribute to insights on the influence of micronutrients on health and help to create efficient micronutrient intervention programs.

PMID: 28194237 [PubMed - in process]

Systems analysis of protective immune responses to RTS,S malaria vaccination in humans.

Proc Natl Acad Sci U S A. 2017 Feb 13;:

Authors: Kazmin D, Nakaya HI, Lee EK, Johnson MJ, van der Most R, van den Berg RA, Ballou WR, Jongert E, Wille-Reece U, Ockenhouse C, Aderem A, Zak DE, Sadoff J, Hendriks J, Wrammert J, Ahmed R, Pulendran B

Abstract
RTS,S is an advanced malaria vaccine candidate and confers significant protection against Plasmodium falciparum infection in humans. Little is known about the molecular mechanisms driving vaccine immunity. Here, we applied a systems biology approach to study immune responses in subjects receiving three consecutive immunizations with RTS,S (RRR), or in those receiving two immunizations of RTS,S/AS01 following a primary immunization with adenovirus 35 (Ad35) (ARR) vector expressing circumsporozoite protein. Subsequent controlled human malaria challenge (CHMI) of the vaccinees with Plasmodium-infected mosquitoes, 3 wk after the final immunization, resulted in ∼50% protection in both groups of vaccinees. Circumsporozoite protein (CSP)-specific antibody titers, prechallenge, were associated with protection in the RRR group. In contrast, ARR-induced lower antibody responses, and protection was associated with polyfunctional CD4(+) T-cell responses 2 wk after priming with Ad35. Molecular signatures of B and plasma cells detected in PBMCs were highly correlated with antibody titers prechallenge and protection in the RRR cohort. In contrast, early signatures of innate immunity and dendritic cell activation were highly associated with protection in the ARR cohort. For both vaccine regimens, natural killer (NK) cell signatures negatively correlated with and predicted protection. These results suggest that protective immunity against P. falciparum can be achieved via multiple mechanisms and highlight the utility of systems approaches in defining molecular correlates of protection to vaccination.

PMID: 28193898 [PubMed - as supplied by publisher]

A combined model reduction algorithm for controlled biochemical systems.

BMC Syst Biol. 2017 Feb 13;11(1):17

Authors: Snowden TJ, van der Graaf PH, Tindall MJ

Abstract
BACKGROUND: Systems Biology continues to produce increasingly large models of complex biochemical reaction networks. In applications requiring, for example, parameter estimation, the use of agent-based modelling approaches, or real-time simulation, this growing model complexity can present a significant hurdle. Often, however, not all portions of a model are of equal interest in a given setting. In such situations methods of model reduction offer one possible approach for addressing the issue of complexity by seeking to eliminate those portions of a pathway that can be shown to have the least effect upon the properties of interest.
METHODS: In this paper a model reduction algorithm bringing together the complementary aspects of proper lumping and empirical balanced truncation is presented. Additional contributions include the development of a criterion for the selection of state-variable elimination via conservation analysis and use of an 'averaged' lumping inverse. This combined algorithm is highly automatable and of particular applicability in the context of 'controlled' biochemical networks.
RESULTS: The algorithm is demonstrated here via application to two examples; an 11 dimensional model of bacterial chemotaxis in Escherichia coli and a 99 dimensional model of extracellular regulatory kinase activation (ERK) mediated via the epidermal growth factor (EGF) and nerve growth factor (NGF) receptor pathways. In the case of the chemotaxis model the algorithm was able to reduce the model to 2 state-variables producing a maximal relative error between the dynamics of the original and reduced models of only 2.8% whilst yielding a 26 fold speed up in simulation time. For the ERK activation model the algorithm was able to reduce the system to 7 state-variables, incurring a maximal relative error of 4.8%, and producing an approximately 10 fold speed up in the rate of simulation. Indices of controllability and observability are additionally developed and demonstrated throughout the paper. These provide insight into the relative importance of individual reactants in mediating a biochemical system's input-output response even for highly complex networks.
CONCLUSIONS: Through application, this paper demonstrates that combined model reduction methods can produce a significant simplification of complex Systems Biology models whilst retaining a high degree of predictive accuracy. In particular, it is shown that by combining the methods of proper lumping and empirical balanced truncation it is often possible to produce more accurate reductions than can be obtained by the use of either method in isolation.

PMID: 28193218 [PubMed - in process]

The Pediatric Research Equity Act Moves Into Adolescence.

JAMA. 2017 01 17;317(3):259-260

Authors: Bourgeois FT, Hwang TJ

PMID: 28114560 [PubMed - indexed for MEDLINE]

[Urothelial tumors in children].

Bull Cancer. 2017 Feb;104(2):195-201

Authors: Grapin-Dagorno C, Peycelon M, Philippe-Chomette P, Berrebi D, El Ghoneimi A, Orbach D

Abstract
Urothelial tumors are very rare in children (to date, only about 150 cases have been reported worlwide). Only 20% occur before the age of ten. The aim of this study is to specify the clinicopathologic features of urothelial tumor in young patients, which require a slightly different approach to treatment. On the basis of the WHO/ISUP (World Health Organisation/International Society of Urological Pathology) consensus classification report, these lesions are usually low-grade lesions, non invasive, and rarely recurrent. The sex ratio is three boys to one girl. These tumors are located preferentially in the low urinary tract, especially in the bladder. The main symptom is the macroscopic hematuria, which requires ultrasound examination in all cases. Cystoscopy is indicated in case of lesion of the bladder wall, or in case of persistent or recurrent hematuria, to obtain definitive diagnosis and biopsies. The tumors are mainly located on the posterior or lateral bladder wall above the trigone or near the ureteral orifices. Treatment is based on the transurethral resection of the lesion. The subsequent monitoring is sparsely codified, due to the exceptional occurrence of these tumors in the paediatric age group. These patients are likely to have better outcome than older patients, but it is due to the predominance of noninvasive papillary urothelial tumors. Tumor recurrences are not uncommon. In case of invasive, high-grade urothelial carcinomas, metastases or even lethal outcome may occur in rare cases.

PMID: 28034440 [PubMed - indexed for MEDLINE]

[Nasopharyngeal adenoid cystic carcinoma, a rare but highly challenging disease with unmet therapeutic needs: A case-report and review of the literature].

Cancer Radiother. 2016 Jul;20(5):400-4

Authors: Afani L, Errihani H, Benchafai I, Lalami Y

Abstract
Nasopharyngeal adenoid cystic carcinoma is a rare tumour. Compared with others nasopharyngeal tumours, it is characterised by slow evolution but it is locally aggressive and has a high tendency to recurrences. Due to the rarity of cases, no consensus exists about treatment approaches. We report the case of 45-year-old-man with a locally advanced adenoid cystic carcinoma. The patient received concurrent chemoradiation and had a good objective response. After one year, he developed a paucisymptomatic lung metastasis. The follow-up showed local recurrence after 3 years. One cycle of chemotherapy was given but poorly supported. Carbon ion radiotherapy was proposed. The aim of this work is to review the literature concerning this rare malignancy and discusses treatment approaches in initial situations and during recurrences.

PMID: 27131394 [PubMed - indexed for MEDLINE]

Encapsulating Peritoneal Sclerosis - Rare Cause Of Bowel Obstruction.

Pol Przegl Chir. 2015 Jul 01;87(7):371-4

Authors: Dec P, Józefowicz M, Lesińska A, Kubisa B

PMID: 26351794 [PubMed - indexed for MEDLINE]