domingo, 1 de marzo de 2015

The human body is colonized by a vast number of microbes, collectively referred to as the human microbiota. The link between these microbes and our health is the focus of a growing number of research initiatives, and new insights are emerging rapidly.

Need for prospective cohort studies to establish human gut microbiome contributions to disease risk

J Natl Cancer Inst. 2013 Dec 18;105(24):1850-1851

The promise of the microbiome: Function and dysfunction in humans and beyond

(Webinar)
Science, Jul 10, 2014--available online.

Microbiology: Microbiome science needs a healthy dose of scepticism.

Nature20 August 2014

Taking the yuck out of microbiome medicine,

by Carl Zimmer, National Geographic, Aug 15

Do gut bacteria rule our minds? In an ecosystem within us, microbes evolved to sway food choices,

by Jeffrey Norris, UCSF Aug 15

Analyzing the human microbiome: a "how to" guide for physicians.

Am J Gastroenterol. 2014 Jul;109(7):983-93.

When feces is the best medicine,

by Amanda Schaffer, the Atlantic, Sep 3

First systematic experience of preimplantation genetic diagnosis fo... - PubMed - NCBI

2015 Feb;103(2):503-12. doi: 10.1016/j.fertnstert.2014.11.007. Epub 2014 Dec 13.

First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

Rechitsky S1, Pakhalchuk T1, San Ramos G1, Goodman A1, Zlatopolsky Z1, Kuliev A2.

Author information

Abstract

OBJECTIVE:

To study the feasibility, accuracy, and reproductive outcome of 24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) typing in the same biopsy sample.

DESIGN:

Retrospective study.

SETTING:

Preimplantation genetic diagnosis center.

PATIENT(S):

A total of 238 PGD patients, average age 36.8 years, for whom 317 combined PGD cycles were performed, involving 105 different conditions, with or without HLA typing.

INTERVENTION(S):

Whole-genome amplification product, obtained in 24-AT, was used for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples.

MAIN OUTCOME MEASURE(S):

Proportion of the embryos suitable for transfer detected in these blastomere or blastocyst samples, and the resulting pregnancy and spontaneous abortion rates.

RESULT(S):

Embryos suitable for transfer were detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth of 149 healthy, HLA-matched children. This outcome is significantly different from that of our 2,064 PGD cycle series without concomitant 24-AT, including improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction (5.5% vs. 15%) rates.

CONCLUSION(S):

The introduced combined approach is a potential universal PGD test, which in addition to achieving extremely high diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs and HLA typing in patients of advanced reproductive age.

KEYWORDS:

Microarray-based 24-chromosome aneuploidy testing; PGD for single gene disorders; allele drop out (ADO) in whole genome amplification; blastocyst biopsy; preimplantation HLA typing; reproductive outcome

PMID:: 25516085; [PubMed - in process]

Preimplantation Genetic Testing - February 23, 2015

Genomics|Features|Preimplantation

Genomics & Health Impact Update with DNA in background

Preimplantation

Preimplantation Genetic Testing - February 23, 2015

Clinical applications of preimplantation genetic testing

Paul R Brezina et al. BMJ 2015; 350 (Published 19 February 2015)

Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing.

Tan Yueqiu et al. Gigascience 2014 (1) 30

First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

Rechitsky Svetlana et al. Fertil. Steril. 2015 Feb (2) 503-12

Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study.

Gianaroli Luca et al. Fertil. Steril. 2014 Dec (6) 1692-9.e6

Neonatal outcome after preimplantation genetic diagnosis.

Eldar-Geva Talia et al. Fertil. Steril. 2014 Oct (4) 1016-21

Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis.

Chen Hsin-Fu et al. Gene 2014 Sep 15. (2) 299-305

Preimplantation genetic diagnosis for inherited neurological disorders.

Tur-Kaspa Ilan et al. Nat Rev Neurol 2014 Jul (7) 417-24

Preimplantation genetic diagnosis and rational choice under risk or uncertainty.

Zuradzki Tomasz et al. J Med Ethics 2014 Nov (11) 774-8

New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies.

Milachich Tanya et al. Biomed Res Int 2014 306505

Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review.

Gleicher Norbert et al. Reprod. Biol. Endocrinol. 2014 Mar 15;12 22

Preimplantation diagnosis for single gene disorders.

Berger Victoria K et al. Semin. Reprod. Med. 2014 Mar (2) 107-13

Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.

Uflacker Alice et al. JAMA Neurol 2014 Apr (4) 484-6

Presymptomatic and preimplantation genetic diagnosis: neurology, NextGenetics, and the next generation.

Wilson Golder N et al. JAMA Neurol 2014 Apr (4) 403-4

Preimplantation genetic testing in the 21st century: uncharted territory.

Brezina Paul R et al. Clin Med Insights Reprod Health 2013 Feb 10. 17-21

Global dissemination of extensively drug-resistant carbapenemase-pr... - PubMed - NCBI

2014 Dec 29. doi: 10.1111/joim.12342. [Epub ahead of print]

Global dissemination of extensively drug-resistant carbapenemase-producing Enterobacteriaceae: clinical perspectives on detection, treatment and infection control.

Tängdén T1, Giske CG.

Author information

Abstract

The prevalence of carbapenem-resistant Gram-negative bacilli is on the rise worldwide, posing a major public health threat. Previously, this was mostly a problem in Pseudomonas and Acinetobacter, but during the last decade, carbapenem resistance has escalated in medically important species such as Klebsiella pneumoniae and Escherichia coli. In particular, the rising trend in E. coli is of concern, as this may lead to almost untreatable community-acquired infections. Resistance is conferred by carbapenemases, which are beta-lactamases that can breakdown essentially all beta-lactams. Moreover, bacteria carrying these resistance determinants are often resistant to other treatment options, due to the frequent co-acquisition of non-beta-lactam resistance genes located on the same mobile genetic elements. The detection of carbapenemase-producing Enterobacteriaceae (CPE) is a challenge, because some carbapenemases produce relatively discrete levels of carbapenem resistance. Current clinical evidence for treatment guidance is limited and based on retrospective observational studies and case reports. Existing data support the use of combination therapy for treatment of severe infections caused by CPE. Combination regimens including colistin, carbapenems, tigecycline, aminoglycosides and fosfomycin have been used. Randomized controlled studies of combination regimens are ongoing and may help to determine the optimal therapy. Novel beta-lactamase inhibitors may also have a role in future treatment of these infections. Strict infection control measures including isolation or cohort care of affected patients as well as contact tracing and active screening are needed to curb the spread of CPE. In this review, we provide a clinical perspective on the management of patients infected or colonized with CPE.

KEYWORDS:

Klebsiella pneumoniae carbapenemase; New Delhi metallo-β-lactamase; carbapenemase; carbapenemase-producing Enterobacteriaceae; colistin; combination therapy

PMID:: 25556628; [PubMed - as supplied by publisher]

Patients Face More Lethal Infections from CRE | Features | CDC

Patients Face More Lethal Infections from CRE

Some germs are beating even our strongest antibiotics. Rapid action by clinicians and healthcare leaders is needed to stop the rise of lethal CRE infections.

A 2013 Vital Signs report shows that antibiotics are being overpowered by lethal germs called carbapenem-resistant Enterobacteriaceae (CRE).These germs cause lethal infections in patients receiving inpatient medical care, such as in hospitals, long-term acute care facilities, and nursing homes.

In their usual forms, germs from the Enterobacteriaceae family (e.g. E. coli) are a normal part of the human digestive system. However, some of these germs have developed defenses to fight off all or almost all antibiotics we have today.When these germs get into the blood, bladder or other areas where germs don't belong, patients suffer from infections that are difficult, and sometimes impossible, to treat.

Untreatable and hard-to-treat infections from CRE germs are on the rise among patients in medical facilities.

CDC’s Kitty Anderson holds up a 96-well plate used for testing the ability of bacteria to growth in the presence of antibiotics.

While CDC has warned about CRE for more than a decade, new information shows that these germs are now becoming more common. One type of CRE has been detected in medical facilities in 42 states. Even more concerning, this report documents a seven-fold increase in the spread of the most common type of CRE during the past 10 years.

Why are CRE so alarming?

Even though these infections are not common, their rise is alarming because they kill up to half of people who get severe infections from them. In addition to causing lethal infections among patients, CRE are especially good at giving their antibiotic-fighting abilities to other kinds of germs.This means that in the near future, more bacteria will become immune to treatment, and more patients' lives could be at risk from routine bladder or wound infections. Without serious efforts to stop CRE in medical facilities, and without rapid improvement in the way doctors everywhere prescribe antibiotics, CRE will likely become a problem in the community, among otherwise healthy people not receiving medical care.

How can CRE be stopped?

There have been major successes in stopping CRE in medical facilities in the United States, and nationally in other countries. Stopping CRE will take a rapid, coordinated, and aggressive "Detect and Protect" action that includes intense infection prevention work and antibiotic prescribing changes. CDC released a CRE prevention toolkit reiterating practical CRE prevention and control steps. Leadership and medical staff in hospitals, long-term acute care hospitals, nursing homes, health departments, and even outpatient practices must work together to implement these recommendations to protect patients from CRE.

Outbreaks highlight the importance of CDC and state health departments working collaboratively to identify and stop spread of antibiotic resistant pathogens. In the FY 16 budget, CDC has requested funding to support State Antibiotic Resistance Prevention Programs[370 KB] in all 50 states and 10 large cities and a regional lab network[275 KB] to help identify and to respond faster to outbreaks. This funding would provide critical national infrastructure to prevent the growing threat of CRE and other drug-resistant pathogens.