Desequilibrio genmico en el sndrome

de Down
El sndrome de Down, o trisoma 21, constituye la alteracin cromosmica viable ms frecuente en
los humanos. El trastorno aparece en aproximadamente uno de cada 750 nacimientos y es la causa
gentica ms frecuente de retraso mental. Aunque tal sntoma es por el que ms se conoce la
enfermedad, no se trata del nico; a menudo viene acompaado de otras alteraciones, como
defectos cardacos, hipotona muscular, problemas auditivos y visuales o envejecimiento prematuro,
cuya gravedad puede variar de un paciente a otro.

El estudio menciona los mecanismos genticos que originan los sntomas del
sndrome de Down, est muy claro lo que expresa y me gust.

Mueren peces y animales en ro de Veracruz por

derrame de petrleo
Me pareci aburrido, aunque es importante que las autoridades si hagan algo,
creo que no puedo ayudar, al menos no tengo los recursos para ello

Cantar para estar en forma

Los cnticos de los presos, de los soldados en la instruccin, de los marineros... Desde
siempre se ha practicado el canto rtmico durante el ejercicio fsico intenso.
Investigaciones recientes confirman la importancia de esta combinacin: el entrenamiento
resulta menos agotador si se canta, segn revela un pequeo estudio publicado
en Proceedings of the National Academy of Sciences USA.
Me pareci muy interesante ya que a m me gusta la msica y un poco el
cantar, por eso eleg este artculo.

Korea's Thyroid-Cancer Epidemic Screening

and Overdiagnosis
Hyeong Sik Ahn, M.D., Ph.D., Hyun Jung Kim, M.P.H., Ph.D., and H. Gilbert Welch, M.D., M.P.H.

N Engl J Med 2014; 371:1765-1767November 6, 2014DOI: 10.1056/NEJMp1409841

In 2011, the rate of thyroid-cancer diagnoses in the Republic of Korea was 15 times that observed in
1993, yet thyroid-cancer mortality remains stable a combination that suggests that the problem is
overdiagnosis attributable to widespread thyroid-cancer screening

Antibiotic Resistance Problems, Progress, and

Prospects
Carl Nathan, M.D., and Otto Cars, M.D., Ph.D.

N Engl J Med 2014; 371:1761-1763November 6, 2014DOI: 10.1056/NEJMp1408040

Two major ways that modern medicine saves lives are through antibiotic treatment of severe infections
and the performance of medical and surgical procedures under the protection of antibiotics. Yet we have
not kept pace with the ability of many pathogens to develop resistance to antibiotics that are legacies of
the golden era of antibiotic discovery, the 1930s to 1960s. We call that period golden because success
seemed routine then; we call it an era because it ended. When industry scientists shifted from making
variants of old drugs to pursuing fundamentally new drugs with activity against resistant pathogens, they
generally failed. Persistent, costly failure to discover novel antibiotics that would be destined for shortterm use even if they survived the regulatory approval process led industry to change its focus to drugs
whose long-term use prevents or mitigates noninfectious diseases. As people in wealthier regions run out
of effective antibiotics, they come to share the lot of people in poorer regions who can't afford them to
begin with.1
At least some clinical isolates of many pathogenic bacterial species Mycobacterium tuberculosis,

Neisseria gonorrhoeae, Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae,

Acinetobacter baumannii, Pseudomonas aeruginosa, and species of enterobacter, salmonella, and

shigella are now resistant to most antibiotics. The problem seems out of control. Yet there are reasons
for optimism: progress has recently been made on 4 of 10 key challenges to ensuring that antibiotics
retain an effective role in medicine.

Ebola Virus Disease in West Africa Clinical

Manifestations and Management
Daniel S. Chertow, M.D., M.P.H., Christian Kleine, M.D., Jeffrey K. Edwards, M.D., M.P.H., Roberto Scaini, M.D.,
Ruggero Giuliani, M.D., and Armand Sprecher, M.D., M.P.H.

November 5, 2014DOI: 10.1056/NEJMp1413084

The central purpose of Ebola treatment units has historically been to isolate infected persons early in the
course of disease often soon after fever onset in order to break the chain of disease transmission
in the community. However, all efforts must be made to optimize the level of medical care provided within
these facilities. Resistance by infected people to voluntary admission will persist unless the treatment
facilities are seen as a place to go for treatment and recovery and not as a place to die isolated from
loved ones and the community. Our observations support aggressive use of antiemetics, antidiarrheal
medications, and rehydration solution to reduce massive gastrointestinal losses and the consequences
of hypovolemic shock. Selective use of intravenous fluid therapy in the population that is most likely to
benefit is a rational approach under the current circumstances. When possible, broader use of
intravenous fluid therapy and electrolyte replacement, guided by point-of-service laboratory testing, is
likely to significantly improve outcomes.

Deep-Brain Stimulation Entering the Era

of Human Neural-Network Modulation
Michael S. Okun, M.D.

N Engl J Med 2014; 371:1369-1373October 9, 2014DOI: 10.1056/NEJMp1408779

Nevertheless, DBS has had an enormous effect on the treatment of Parkinson's disease. It has also
been used to treat essential tremor, dystonia, and epilepsy and in experimental treatments of
obsessivecompulsive disorder, depression, Alzheimer's disease, and Tourette's syndrome
(see interactive graphic, available with the full text of this article at NEJM.org). DBS therapy is
usually considered only after all other treatments have been exhausted, but becoming bionic has
provided many patients with a new lease on life. Thanks in large part to the contributions of two
extraordinary scientists, we have entered the era of human neural-network modulation.

Postherpetic Neuralgia
Robert W. Johnson, M.B., B.S., M.D., and Andrew S.C. Rice, M.B., B.S., M.D.

N Engl J Med 2014; 371:1526-1533October 16, 2014DOI: 10.1056/NEJMcp1403062

Postherpetic neuralgia is more common with older age. Recommended treatments include topical
agents (lidocaine or capsaicin) and systemic agents (in particular, gabapentin, pregabalin, or
tricyclic antidepressants), but their efficacy tends to be suboptimal.

Mounting a Good Offense against Measles

Walter Orenstein, M.D., and Katherine Seib, M.S.P.H.

N Engl J Med 2014; 371:1661-1663October 30, 2014DOI: 10.1056/NEJMp1408696

We must also overcome vaccine hesitancy. Despite the overwhelming evidence that vaccines
including the measles, mumps, and rubella vaccine are safe, too many people still believe that greater
risk is posed by vaccinating than by not vaccinating. Research is needed on how best to address public
concerns about vaccine safety. The lack of apparent measles disease in the United States which is
attributable to the enormous success of the U.S. immunization program gives a false sense that there

is little or no threat. Efforts are also needed to educate the public that measles is a serious disease,
which no one need suffer from, and that vaccines are highly effective in preventing it.
In the end, we can best protect our population against measles by ensuring that people eligible for
vaccination are vaccinated and by supporting global efforts to go on the offensive against this major
cause of the global disease burden.

Ebola Then and Now

Joel G. Breman, M.D., D.T.P.H., and Karl M. Johnson, M.D.

N Engl J Med 2014; 371:1663-1666October 30, 2014DOI: 10.1056/NEJMp1410540

In the current Ebola epidemic, we believe that the main priorities should be adequate staff for rigorous
identification, surveillance, and care of patients and primary contacts; strict isolation of patients; good
clinical care; and rapid, culturally sensitive disposal of infectious cadavers. Timely control will require
convincing community leaders and health staff that isolation and rapid burial practices are mandatory;
that patients can be cared for safely in improved local conditions; and that only trained, qualified, and
properly equipped health staff should have patient contact.
These steps from the first Ebola outbreak may help bring the current epidemic under control. We also
await key virologic, clinical, epidemiologic, and anthropologic descriptions of the epidemic which will
permit comparison with the other Ebola outbreaks that have occurred since 1976 and help us prepare for
future outbreaks.

Applying Synthetic Lethality for the Selective

Targeting of Cancer
Donal P. McLornan, M.B., B.Ch., Ph.D., Alan List, M.D., and Ghulam J. Mufti, D.M.

N Engl J Med 2014; 371:1725-1735October 30, 2014DOI: 10.1056/NEJMra1407390

Synthetic lethality refers to the requirement that two defects be present for cell death to occur.
When an agent damages DNA, its effects on the cell can be amplified if the efforts of the cell to
repair the damage are inhibited. Clinical application of this idea is just beginning.