Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and Phenotypes.

Neoplasia. 2016 Dec 14;19(1):28-34

Authors: Arriba M, García JL, Rueda D, Pérez J, Brandariz L, Nutu OA, Alonso L, Rodríguez Y, Urioste M, González-Sarmiento R, Perea J

Abstract
AIM: To investigate whether chromosomal instability (CIN) is associated with tumor phenotypes and/or with global genomic status based on MSI (microsatellite instability) and CIMP (CpG island methylator phenotype) in early-onset colorectal cancer (EOCRC).
METHODS: Taking as a starting point our previous work in which tumors from 60 EOCRC cases (≤45 years at the time of diagnosis) were analyzed by array comparative genomic hybridization (aCGH), in the present study we performed an unsupervised hierarchical clustering analysis of those aCGH data in order to unveil possible associations between the CIN profile and the clinical features of the tumors. In addition, we evaluated the MSI and the CIMP statuses of the samples with the aim of investigating a possible relationship between copy number alterations (CNAs) and the MSI/CIMP condition in EOCRC.
RESULTS: Based on the similarity of the CNAs detected, the unsupervised analysis stratified samples into two main clusters (A, B) and four secondary clusters (A1, A2, B3, B4). The different subgroups showed a certain correspondence with the molecular classification of colorectal cancer (CRC), which enabled us to outline an algorithm to categorize tumors according to their CIMP status. Interestingly, each subcluster showed some distinctive clinicopathological features. But more interestingly, the CIN of each subcluster mainly affected particular chromosomes, allowing us to define chromosomal regions more specifically affected depending on the CIMP/MSI status of the samples.
CONCLUSIONS: Our findings may provide a basis for a new form of classifying EOCRC according to the genomic status of the tumors.

PMID: 27987438 [PubMed - as supplied by publisher]

Association between AXL, Hippo transducers and survival outcomes in male breast cancer.

J Cell Physiol. 2016 Dec 17;:

Authors: Di Benedetto A, Mottolese M, Sperati F, Ercolani C, Di Lauro L, Pizzuti L, Vici P, Terrenato I, Shaaban AM, Humphries MP, Sundara-Rajan S, Barba M, Speirs V, De Maria R, Maugeri-Saccà M

Abstract
Male breast cancer (MBC) is an uncommon malignancy. We have previously reported that the expression of the Hippo transducers TAZ/YAP and their target CTGF was associated with inferior survival in MBC patients. Preclinical evidence demonstrated that Axl is a transcriptional target of TAZ/YAP. Thus, we herein assessed AXL expression to further investigate the significance of active TAZ/YAP-driven transcription in MBC. For this study, 255 MBC samples represented in tissue microarrays were screened for AXL expression, and 116 patients were included. The association between categorical variables was verified by the Pearson's Chi-squared test of independence (2-tailed) or the Fisher Exact test. The relationship between continuous variables was tested with the Pearson's correlation coefficient. The Kaplan-Meier method was used for estimating survival curves, which were compared by log-rank test. Factors potentially impacting 10-year and overall survival were verified in Cox proportional regression models. AXL was positively associated with the TAZ/CTGF and YAP/CTGF phenotypes (p = 0.001 and p = 0.002, respectively). Patients with TAZ/CTGF/AXL- or YAP/CTGF/AXL-expressing tumors had inferior survival compared with non-triple-positive patients (log rank p = 0.042 and p = 0.048, respectively). The variables TAZ/CTGF/AXL and YAP/CTGF/AXL were adverse factors for 10-year survival in the multivariate Cox models (HR 2.31, 95%CI:1.02-5.22, p = 0.045, and HR 2.27, 95%CI:1.00-5.13, p = 0.050). Nearly comparable results were obtained from multivariate analyses of overall survival. The expression pattern of AXL corroborates the idea of the detrimental role of TAZ/YAP activation in MBC. Overall, Hippo-linked biomarkers deserve increased attention in this rare disease. This article is protected by copyright. All rights reserved.

PMID: 27987320 [PubMed - as supplied by publisher]

Cost-Effectiveness of the Quantification of Enzymatic Activity in Leukocytes in Comparison to Its Nonrealization for a Rare Disease in Latin America: The Case of Mucopolysaccharidosis Type II in Colombia.

Value Health Reg Issues. 2016 Dec;11:42-48

Authors: Parody E, A Guevara C, Aguirre A, M Tello P

Abstract
BACKGROUND: Mucopolysaccharidosis (MPS) type II is produced by a deficiency of iduronate-2-sulfatase (I2S). The quantification of the enzyme activity in leukocytes is used as diagnostic confirmation of MPS.
OBJECTIVE: To determinate the cost-effectiveness of the measurement of I2S enzyme activity in leukocytes compared with not carrying out the enzyme activity measurement for diagnostic confirmation of MPS II from the perspective of the Colombian health system.
METHODS: A cost-effectiveness analysis was conducted on the basis of a decision tree model. The measure of effectiveness was the correct diagnosis of cases of MPS II. The costs of I2S enzymatic quantification in leukocytes, consultation with a geneticist and with other specialists, and costs of diagnostic procedures were included. The time horizon was less than 1 year. A probabilistic sensitivity analysis was performed using Monte-Carlo simulation with 10,000 iterations.
RESULTS: The incremental cost was -US $43,145 with an incremental effectiveness of 42 cases. The probabilistic sensitivity analysis confirms the results of basal data, in which the quantification of I2S enzyme activity was less costly and more effective than the alternative.
CONCLUSIONS: The quantification of I2S enzymatic activity is a dominant technology for the diagnostic confirmation of MPS II, compared with not making the quantification, from the perspective of the Colombian health system.

PMID: 27986197 [PubMed - in process]

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

"orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"

These pubmed results were generated on 2016/12/17

PubMed comprises more than 24 million 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.

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

"orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"

These pubmed results were generated on 2016/12/16

PubMed comprises more than 24 million 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.

Global prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis.

Lancet. 2016 Oct;388 Suppl 1:S55

Authors: Wu X, Long E, Lin H, Liu Y

Abstract
BACKGROUND: Congenital cataract is the primary cause of treatable childhood blindness worldwide. The establishment of reliable, epidemiological estimates is an essential first step towards development of causal and management strategies. We therefore undertook an initial systematic review and meta-analysis to estimate the global prevalence and other epidemiological characteristics of congenital cataract.
METHODS: We searched PubMed, Medline, Web of Science, Embase, and Cochrane Library databases with a combination of search terms, including "congenital cataract", "prevalence", "epidemiology", "population", and "survey", up to January, 2015. We did a meta-analysis with a random-effects model based on a proportions approach to determine the population-based prevalence of congenital cataract and to describe the data for the laterality, morphology, associated comorbidities, and cause. We analysed heterogeneity with the meta-regression method, and did subgroup analyses.
FINDINGS: 27 studies were selected from 2610 references. The pooled prevalence estimate was 4·24 per 10 000 people (95% CI 3·16-5·69 per 10 000), making it a rare disease by WHO standards. Most of the variations could be explained by sample size, research period, and age at diagnosis (R(2), amount of heterogeneity accounted for, 65·41%; p=0·0006). Subgroup analyses showed that the highest prevalence of congenital cataract was in Asia, and a trend for increasing prevalence through 2000 in all regions. Other major epidemiological characteristics showed that congenital cataract tended to be bilateral, isolated, hereditary, and in total/nuclear morphology.
INTERPRETATION: This study provides a comprehensive, worldwide estimate of the population-based prevalence of congenital cataract and describes its major epidemiological characteristics. The findings provide suggestions for further studies focused on the cause of congenital cataract, improvements in screening techniques, and the development of public health strategies.
FUNDING: The Ministry of Science and Technology of China Grants (973 programme, 2015CB964600), the Key Research Plan for the National Natural Science Foundation of China (number 91546101), and the Guangdong Provincial Natural Science Foundation for Distinguished Young Scholars of China (number 2014A030306030).

PMID: 27968871 [PubMed - in process]

Actinomycosis of the abdominal wall after cholecystectomy: transferral theory.

Neth J Med. 2016 Dec;74(10):451-454

Authors: Kooi EJ, de Vries PJ, van Geloven AW, Stel HV, Kingma PJ

Abstract
Abdominal actinomycosis is a rare disease caused by Gram-positive anaerobic Actinomyces bacteria. Here, we present a patient with an intrauterine contraceptive device who developed a long lasting and unexplained recurrent, painful abdominal swelling a few months after a laparoscopic cholecystectomy.

PMID: 27966440 [PubMed - in process]

Stroke as the Sole Manifestation of Takayasu Arteritis in a 15-Year-Old Boy with Latent Tuberculosis.

Case Rep Neurol Med. 2016;2016:8736248

Authors: Benjaminsen E, Reigstad A, Cengija V, Lilleby V, Carlsson M

Abstract
Introduction. Takayasu arteritis is a rare disease affecting the aorta and its main branches, causing arterial claudication and end-organ ischemia, including stroke. The etiology is unknown but is believed to be autoimmune. An association between Takayasu arteritis and tuberculosis has been suggested, but the possible relation is unclear. Case Presentation. A 15-year-old Somali boy was diagnosed with latent tuberculosis. He had a lesion in the right lung, and both the tuberculin skin test by the Mantoux method and Quantiferon GOLD test turned out positive. After he suffered a cerebral infarct in the right hemisphere, childhood Takayasu arteritis was diagnosed. The diagnosis was based on diagnostic imaging showing a high-grade stenosis of the origin of the right common carotid artery, an occluded common carotid artery on the left side, a circumferential thickening of the vessel walls in the right and left common carotid artery, and laboratory findings with elevated C-reactive protein. Conclusion. Takayasu arteritis is an uncommon cause of stroke. It should however be kept in mind as a cause of cerebrovascular disease, especially in the young.

PMID: 27965905 [PubMed - in process]

Rituximab-Associated Inflammatory Progressive Multifocal Leukoencephalopathy.

Case Rep Infect Dis. 2016;2016:8915047

Authors: Punch C, Schofield C, Harris P

Abstract
Progressive multifocal leukoencephalopathy (PML) is a rare disease of the immunosuppression that results from neurotropic invasion of the JC virus which leads to demyelination of oligodendrocytes. Immune reconstitution inflammatory syndrome (IRIS), on the other hand, is a condition of inflammation that develops as the immune system reconstitutes. This case report describes a case of a 35-year-old HIV-negative male who presented with three weeks of right lower extremity paresthesias as well as right upper extremity apraxia. He was diagnosed with PML complicated by IRIS secondary to Rituximab, which he had completed four months prior to presentation. Despite the condition's poor prognosis, the patient recovered with only minor deficits.

PMID: 27965904 [PubMed - in process]

A Rare Disease With Cardiac Involvement.

Am J Crit Care. 2016 Dec;26(1):89-90

Authors: Al-Zaiti SS, Pelter MM, Kozik TM, Carey MG

PMID: 27965234 [PubMed - in process]

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/12/15

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/11/03

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/11/02

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/11/01

PubMed comprises more than 24 million 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.

Ophthalmological manifestations of Parry-Romberg syndrome.

Surv Ophthalmol. 2016 Nov - Dec;61(6):693-701

Authors: Bucher F, Fricke J, Neugebauer A, Cursiefen C, Heindl LM

Abstract
Parry-Romberg syndrome is a rare disease characterized by slowly progressive atrophy affecting facial subcutaneous tissues, including the underlying muscles and osteocartilaginous structures. Various periocular, ocular, and neuro-ophthalmological manifestations have been described in Parry-Romberg syndrome. The most common periocular disorders include enophthalmos, eyelid, and orbit alterations. The most frequent ocular disorders include corneal and retinal changes, and the most common neuro-ophthalmological disorders involve optic nerve, ocular motor and pupillary dysfunction. Besides the characteristic facial abnormalities, systemic manifestations may occur, including neurologic, dermatologic, cardiac, endocrine, infectious, orthodontic, and maxillofacial disorders. So far, mainly brief case reports describe these ophthalmological findings. Therefore, we summarize the ocular, periocular, and neuro-ophthalmological findings in detail, describe diagnostic modalities, and outline therapeutic options.

PMID: 27045226 [PubMed - in process]

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/10/30

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/10/28

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/10/27

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/10/26

PubMed comprises more than 24 million 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.

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

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/10/25

PubMed comprises more than 24 million 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.