Syndrome News and Research

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Gene ZSCAN4 may help treat Down syndrome

For people with Down syndrome, news from Elixirgen, LLC may brighten their day. The biotechnology company, located in the Science + Technology Park at Johns Hopkins, has outlined one of the best potential therapies yet for people with Down syndrome and other chromosome disorders in a paper entitled, "Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures," published in the journal DNA Research.

31 Aug 2015

Prolonged television watching associated with twice the risk of fatal pulmonary embolism

Prolonged television watchers have a higher risk of fatal pulmonary embolism, a condition associated with long haul flights, reveals research presented at ESC Congress today by Mr Toru Shirakawa, public health research fellow in the Department of Social Medicine at Osaka University in Japan.

31 Aug 2015

PATHWAY 3 study: Half dose combination of common diuretics reduces blood pressure

The combination of two commonly used diuretics, each at half dose, can significantly reduce blood pressure without the side-effects caused by full doses of either alone, researchers from the PATHWAY 3 study have found.

31 Aug 2015

ELIXA trial results demonstrate cardiovascular safety of lixisenatide drug

In patients with type 2 diabetes and acute coronary syndrome, the glucose-lowering medication lixisenatide did not increase or decrease the rate of cardiovascular (CV) events compared to placebo, according to results of the Evaluation of Lixisenatide in Acute Coronary Syndrome (ELIXA) trial.

31 Aug 2015

ESC guideline adherent antithrombotic management improves outcomes in AF patients

Patients with atrial fibrillation who receive antithrombotic management according to ESC guidelines have better outcomes than those who do not, according to one year follow up results from the ESC's EORP-AF Pilot General Registry presented today at ESC Congress 20151 and published online in Europace.

31 Aug 2015

Phase III trial results show cariprazine effective in treating negative symptoms associated with schizophrenia

Results of a clinical trial seem to show the first effective treatment for the negative symptoms - withdrawal, lack of emotion, and apathy - associated with schizophrenia.

31 Aug 2015

New device turns paralysis victims' breath into words

A new device which transforms paralysis victims' breath into words - believed to be the first invention of its kind - has been developed by academics from Loughborough University.

28 Aug 2015

Obesity raises Lynch syndrome CRC risk

Obesity increases the risk of colorectal cancer in patients with Lynch syndrome, research indicates, but daily aspirin use may combat this excess risk.

27 Aug 2015

Soligenix obtains additional funding from NIAID to advance development of OrbeShield for GI ARS treatment

Soligenix, Inc., a late-stage biopharmaceutical company developing products that address unmet medical needs in the areas of inflammation, oncology and biodefense, announced today that the National Institute of Allergy and Infectious Diseases has exercised its option to advance preclinical development of OrbeShield (oral beclomethasone 17,21-dipropionate or oral BDP).

27 Aug 2015

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations.

27 Aug 2015

Promising research aims at finding cure for hydrocephalus

Scientists are focusing in on promising research aimed at finding a cure for hydrocephalus; and a new initiative funded by the Hydrocephalus Association, the largest private funder of hydrocephalus research in the United States, is uniting these researchers to accelerate their progress.

27 Aug 2015

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Ian was ‘a clumsy child’. He kept bumping into objects and couldn’t see well in the dark. He endured 15 years of tests and misdiagnoses during a lengthy, and sometimes traumatic, diagnostic odyssey.

26 Aug 2015

Variations in opioid receptor genes linked to neonatal abstinence syndrome severity in newborn babies

A new study led by researchers at Boston Medical Center indicates that variations in opioid receptor genes are associated with more severe neonatal abstinence syndrome (NAS) in newborn babies. The findings, published online in Drug & Alcohol Dependence, could help lead to the development of individualized treatment plans tailored to each infants' risk of requiring medication to curb their NAS symptoms, which could help improve these patients' outcomes and reduce how long some stay in the hospital.

26 Aug 2015

Paramedic care improves survival for paediatric patients who suffer cardiac arrest outside of hospital

Less than 10 per cent of paediatric patients who suffer a cardiac arrest outside of the hospital survive. There are many factors which can influence survival rates; paramedic care is one of them.

26 Aug 2015

Researchers examine how small wireless sensors integrated into orthopedic implants can help detect SSI

A team of researchers, led by Rensselaer Polytechnic Institute Professor Eric Ledet, will investigate whether small wireless sensors incorporated into orthopedic implants could be used to detect surgical site infections. The research is supported by a $429,560 grant from the National Institutes of Health.

26 Aug 2015

New assessment tool under development can help detect physical traits of Klinefelter syndrome

Klinefelter syndrome is the most common disorder of the male sex chromosomes, yet is rarely diagnosed in children. A new assessment tool is being developed by researchers at Columbia University Medical Center (CUMC) to help pediatricians detect the physical traits of the syndrome. The tool could pave the way for early interventions that prevent and treat a range of physical, psychological, social, and cognitive impairments.

26 Aug 2015

Medical case report of woman with Channelopathy-associated Insensitivity to Pain Syndrome

The report, published on F1000Research and titled Neuropathic pain in a patient with congenital insensitivity to pain has just passed peer review. It concerns a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. These injuries were sustained during a painless labour, which culminated in a Caesarean section.

25 Aug 2015

Scientists bridge gap between two separate pieces of embryonic mouse intestine

University of Manchester scientists have bridged a gap between two separate pieces of small intestine kept alive outside the body, in an advance which could have implications for surgery in human adults and babies.

25 Aug 2015

Understanding the causes of sudden death in epilepsy: an interview with Professor Sanjay Sisodiya

SUDEP is the sudden unexpected witnessed or unwitnessed, non-traumatic and non-drowning death in people with epilepsy, with or without evidence of a seizure. It doesn’t necessarily have to be in the known context of a seizure, excluding documented status epilepticus, where people have seizure after seizure.

24 Aug 2015

Researchers report new breakthrough in countering deadly effects of radiation exposure

An interdisciplinary research team led by The University of Texas Medical Branch at Galveston reports a new breakthrough in countering the deadly effects of radiation exposure. A single injection of a regenerative peptide was shown to significantly increase survival in mice when given 24 hours after nuclear radiation exposure.

24 Aug 2015

Syndrome News and Research

Gene ZSCAN4 may help treat Down syndrome

Prolonged television watching associated with twice the risk of fatal pulmonary embolism

PATHWAY 3 study: Half dose combination of common diuretics reduces blood pressure

ELIXA trial results demonstrate cardiovascular safety of lixisenatide drug

ESC guideline adherent antithrombotic management improves outcomes in AF patients

Phase III trial results show cariprazine effective in treating negative symptoms associated with schizophrenia

New device turns paralysis victims' breath into words

Obesity raises Lynch syndrome CRC risk

Soligenix obtains additional funding from NIAID to advance development of OrbeShield for GI ARS treatment

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

Promising research aims at finding cure for hydrocephalus

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Variations in opioid receptor genes linked to neonatal abstinence syndrome severity in newborn babies

Paramedic care improves survival for paediatric patients who suffer cardiac arrest outside of hospital

Researchers examine how small wireless sensors integrated into orthopedic implants can help detect SSI

New assessment tool under development can help detect physical traits of Klinefelter syndrome

Medical case report of woman with Channelopathy-associated Insensitivity to Pain Syndrome

Scientists bridge gap between two separate pieces of embryonic mouse intestine

Understanding the causes of sudden death in epilepsy: an interview with Professor Sanjay Sisodiya

Researchers report new breakthrough in countering deadly effects of radiation exposure

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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