lunes, 11 de noviembre de 2019

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Advanced Molecular Detection Clips Database|AMD Clips|PHGKB

Advanced Molecular Detection Clips Database|AMD Clips|PHGKB

Public Health Genomics Knowledge Base
Publication Date: Oct 31, 2019


CONCEPTS / COMMENTS

PATHOGENICITY / ANTIMICROBIAL RESISTANCE

EPIDEMIOLOGY / OUTBREAKS / TRANSMISSION

ANTIMICROBIALS / VACCINES / INTERVENTIONS



NoteBrand indicates that at least one CDC-affiliated author; Brand indicates that the article addresses aspects of implementation or evaluation in clinical or public health practice.

Disclaimer: Articles listed in the Advanced Molecular Detection Clips are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the clips does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.


Advanced Molecular Detection Clips Database|AMD Clips|PHGKB

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists. - PubMed - NCBI

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists. - PubMed - NCBI

 2019 Nov 4. doi: 10.1038/s41436-019-0684-x. [Epub ahead of print]

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Author information


1
Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. rna2104@cumc.columbia.edu.
2
Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
3
University of Rochester, Center for Health and Technology, Rochester, NY, USA.
4
Duke University, Clinical Trial Transformation Initiative (CTTI), FDA-CTTI Patient Engagement Collaborative, Durham, NC, USA.
5
Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
6
Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.
7
Columbia University Irving Medical Center, Sergievsky Center and Taub Institute, New York, NY, USA.
8
Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
9
Parkinson's Foundation, New York, NY, USA.
10
Struthers Parkinson's Center, Golden Valley, MN, USA.

Abstract

PURPOSE:

Genetic testing for Parkinson disease (PD) has not been widely used in clinical practice. In preparation for upcoming precision medicine-designed clinical trials for GBA and LRRK2, we evaluated movement disorders specialists' current practice, knowledge, attitudes, and barriers to genetic testing in PD.

METHODS:

An anonymous questionnaire was sent to movement disorders specialists at 146 Parkinson Study Group (PSG) sites in the United States (n = 131) and Canada (n = 15) to assess their knowledge and attitudes about genetic testing for PD.

RESULTS:

One hundred seventy-eight (47.6%) PSG clinicians completed the questionnaire. Forty-one percent of respondents had not referred any PD patients for genetic testing in the last year and >80% reported referring fewer than 11 patients over the same period. Most common reasons for not referring for genetic testing included lack of insurance coverage/cost to the patient and lack of perceived utility. On a scale of 0-100, the mean level of comfort in respondents' own ability to genetically counsel PD patients on GBA and LRRK2 was 52 (SD = 28). Sixty percent of clinicians correctly answered all questions about the inheritance and penetrance of GBA and LRRK2 variants.

CONCLUSIONS:

There is an urgent need to increase knowledge and reduce practical barriers to genetic counseling and testing in PD.

KEYWORDS:

GBA; LRRK2; Parkinson disease; genetic testing; questionnaire

PMID:
 
31680121
 
DOI:
 
10.1038/s41436-019-0684-x

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. - PubMed - NCBI

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. - PubMed - NCBI



 2019 Sep 16. pii: S0085-2538(19)30910-X. doi: 10.1016/j.kint.2019.08.027. [Epub ahead of print]

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Author information


1
Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France; Paris Descartes Université, Sorbonne Paris Cité, Paris, France.
2
North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK.
3
Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium.
4
Paris Descartes Université, Sorbonne Paris Cité, Paris, France; Department of Physiological Functional Investigations, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France.
5
Paris Descartes Université, Sorbonne Paris Cité, Paris, France; Assistance Publique Hôpitaux des Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Centre d'Investigation Clinique 1418, Paris, France.
6
Rheumatology Department, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Reference Center for Rare Calcium and Phosphate Diseases, Paris, France.
7
Department of Renal Medicine, University College London, London, UK.
8
Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium.
9
Multiplicom N.V. (a part of Agilent Technologies), Niel, Belgium.
10
Paediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
11
Department of Renal Medicine, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK.
12
Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium; Institute of Physiology, Zurich Center for Integrative Human Physiology (ZIHP), Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland. Electronic address: olivier.devuyst@uclouvain.be.
13
Department of Renal Medicine, University College London, London, UK. Electronic address: stephen.walsh@ucl.ac.uk.
14
Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France. Electronic address: rosa.vargas@aphp.fr.

Abstract

Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults. Precise diagnosis can be difficult or delayed due to insidious development of symptoms, comorbidities and polypharmacy. Here we evaluated the diagnostic value of a specific panel of known genes implicated in tubulopathies in adult patients and compared to our data obtained in children. To do this we analyzed 1033 non-related adult patients of which 744 had a clinical diagnosis of tubulopathy and 289 had a diagnosis of familial hypercalcemia with hypocalciuria recruited by three European reference centers. Three-quarters of our tubulopathies cohort included individuals with clinical suspicion of Gitelman syndrome, kidney hypophosphatemia and kidney tubular acidosis. We detected pathogenic variants in 26 different genes confirming a genetic diagnosis of tubulopathy in 29% of cases. In 16 cases (2.1%) the genetic testing changed the clinical diagnosis. The diagnosis of familial hypercalcemia with hypocalciuria was confirmed in 12% of cases. Thus, our work demonstrates the genetic origin of tubulopathies in one out of three adult patients, half of the rate observed in children. Hence, establishing a precise diagnosis is crucial for patients, in order to guide care, to survey and prevent chronic complications, and for genetic counselling. At the same time, this work enhances our understanding of complex phenotypes and enriches the database with the causal variants described.

KEYWORDS:

adults; genetic testing; next-generation sequencing; tubulopathy

PMID:
 
31672324
 
DOI:
 
10.1016/j.kint.2019.08.027

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ? - PubMed - NCBI

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ? - PubMed - NCBI



 2019 Oct 1. pii: EJE-19-0641.R2. doi: 10.1530/EJE-19-0641. [Epub ahead of print]

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ?

Author information


1
L Coppin, Centre de biologie pathologie, Centre Hospitalier Regional Universitaire de Lille, Lille, France.
2
M Dufosse, Service de Biochimie et Biologie moléculaire "Hormonologie, Métabolisme-Nutrition, Oncologie", Centre Hospitalier Régional Universitaire de Lille, Lille, France.
3
P Romanet, Laboratory of molecular biology, AP-HM, Marseille, France.
4
S Giraud, Genetics department, Hospices Civils de Lyon, Lyon, France.
5
M North, Hôpital Cochin, service de génétique et biologie moléculaire, Assistance Publique - Hopitaux de Paris, Paris, France.
6
C Cardot-bauters, Centre de biologie pathologie, Centre Hospitalier Regional Universitaire de Lille, Lille, France.
7
F Borson-Chazot, HESPER, Universite Claude Bernard Lyon 1, Villeurbanne, France.
8
L Duchesne, Service d'endocrinologie, CHR Metz-Thionville, Metz, France.
9
M Metallo, Department of endocrinology, CHU Nancy, Nancy, France.
10
T Lovecchio, Service de Biochimie et Biologie moléculaire "Hormonologie, Métabolisme-Nutrition, Oncologie", CHRU de Lille, Lille, France.
11
A Barlier, Laboratory of molecular biology, AP-HM, Marseille, France.
12
M Odou, Service de Biochimie et Biologie moléculaire "Hormonologie, Métabolisme-Nutrition, Oncologie", CHRU de Lille, Lille, France.

Abstract

OBJECTIVE:

Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most frequently involved being MEN1, CDC73=HRPT2 and CASR. During the last few years, new genes have been described as responsible for development of PHPT such as GCM2. These genes are not systematically included in PHPT genetic screening yet. The aim of this work was to assess the importance of GCM2 genetic analysis in PHPT to determine if this gene should be included in gene panel investigated for this disease. Design, and Methods: The TENGEN network (French Oncogenetic Network of Neuroendocrine Tumors) collected and interpreted allelic variants according to the clinical characteristics of the GCM2-positive patients identified through genetic testing performed in French laboratories (713 patients with PHPT).

RESULTS:

From 713 patients with PHPT included in this study, 85 (6.6%) carried at least one GCM2 variant. A total of 12 variants classified as uncertain significance or likely pathogenic were reported in 47 patients. Their mean age at PHPT diagnosis was 49 years. Additionnally, the investigation of a large family showed that GCM2 variants could be associated with low penetrancy.

CONCLUSION:

We provide a description and interpretation for GCM2 variants identified in French population. We suggest that this gene should be included in genetic screening of patients with PHPT and propose the follow-up of calcemia for asymptomatic patients carrying such variants.

PMID:
 
31671402
 
DOI:
 
10.1530/EJE-19-0641

Identification of prognostic biomarker in predicting hepatocarcinogenesis from cirrhotic liver using protein and gene signatures. - PubMed - NCBI

Identification of prognostic biomarker in predicting hepatocarcinogenesis from cirrhotic liver using protein and gene signatures. - PubMed - NCBI



 2019 Oct 30;111:104319. doi: 10.1016/j.yexmp.2019.104319. [Epub ahead of print]

Identification of prognostic biomarker in predicting hepatocarcinogenesis from cirrhotic liver using protein and gene signatures.

Author information


1
Department of Internal Medicine, University College of Medicine, Republic of Korea.
2
Department of Pathology, Yonsei University College of Medicine, Republic of Korea.
3
Department of Systems Biology, Department of Cancer Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
4
Department of Surgery, Korea University College of Medicine, Seoul, Republic of Korea.
5
Department of Systems Biology, Department of Cancer Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. Electronic address: jlee@mdanderson.org.

Abstract

INTRODUCTION:

Cirrhosis primes the liver for hepatocellular carcinoma (HCC) development. However, biomarkers that predict HCC in cirrhosis patients are lacking. Thus, we aimed to identify a biomarker directly from protein analysis and relate it with transcriptomic data to validate in larger cohorts.

MATERIAL AND METHOD:

Forty-six patients who underwent hepatectomy for HCC that arose from cirrhotic liver were enrolled. Reverse-phase protein array and microarray data of these patients were analyzed. Clinical validation was performed in two independent cohorts and functional validation using cell and tissue microarray (TMA).

RESULTS:

Systematic analysis performed after selecting 20 proteins from 201 proteins with AUROC >70 effectively categorized patients into high (n = 20) or low (n = 26) risk HCC groups. Proteome-derived late recurrence (PDLR)-gene signature comprising 298 genes that significantly differed between high and low risk groups predicted HCC well in a cohort of 216 cirrhosis patients and also de novo HCC recurrence in a cohort of 259 patients who underwent hepatectomy. Among 20 proteins that were selected for analysis, caveolin-1 (CAV1) was the most dominant protein that categorized the patients into high and low risk groups (P < .001). In a multivariate analysis, compared with other clinical variables, the PDLR-gene signature remained as a significant predictor of HCC (HR 1.904, P = .01). In vitro experiments revealed that compared with mock-transduced immortalized liver cells, CAV1-transduced cells showed significantly increased proliferation (P < .001) and colony formation in soft agar (P < .033). TMA with immunohistochemistry showed that tissues with CAV1 expression were more likely to develop HCC than tissues without CAV1 expression (P = .047).

CONCLUSION:

CAV1 expression predicts HCC development, making it a potential biomarker and target for preventive therapy.

KEYWORDS:

Caveolin-1; Hepatocellular carcinoma; Liver cirrhosis; Reverse-phase protein array

PMID:
 
31676327
 
DOI:
 
10.1016/j.yexmp.2019.104319