A clinical trial that followed close to 1,000 people using a new home test for chronic kidney disease (CKD) shows a high percentage of the participants were happy with the process and preferred it to getting tested in a doctor’s office.
The National Kidney Foundation (NKF), Geisinger and Healthy.io evaluated smartphone home testing for CKD. Patients with hypertension – a major risk factor for CKD – that had not been tested in the previous 12 months were given the option of using a smartphone urinalysis test at home and the results were impressive.
Of the participants that received a kit, 71 percent adhered to testing, 98 percent of patients who attempted a home test succeeded, and 89 percent stated they prefer home testing over testing at the physician’s office. Among patients who completed home testing, the mean score for whether they would recommend home urine testing to a friend or colleague was 8.9/10 (i.e. Net Promoter Score of 62).
Despite current guidelines that recommend CKD testing yearly for adults with diabetes and/or hypertension, less than 10 percent of those with hypertension and less than 40 percent of those with diabetes are currently completely assessed.
“Albuminuria is often the earliest sign of kidney disease, and yet, in the majority of people at increased risk due to diabetes or hypertension, it is not tested,” said Kerry Willis, PhD, NKF Chief Scientific Officer. “This new test has the potential to help millions of patients find out they have CKD while there is still time to prevent progression to kidney failure.”
National Kidney Foundationhttps://tinyurl.com/y4wxhnsy

Opitz C syndrome (OCS), an ultra-rare disease that causes serious physical and intellectual disabilities, has an heterogeneous genetic base that makes its medical diagnostic and therapeutic intervention difficult, according to a new study by professors Daniel Grinberg, Susanna Balcells and Roser Urreizti, from the Group on Human Molecular Genetics of the of the Faculty of Biology of the University of Barcelona and the Rare Diseases Networking Biomedical Research Centre (CIBERER).
The new study concludes this severe and extremely rare disease could be considered a “private syndrome” for each patient.
Described in 1969 by geneticist John M. Opitz, this ultra-rare pathology –with only a few diagnosed cases worldwide- shows a great clinical variability in different levels of severity (trigonocephaly, intellectual disability, psychomotor retardation, among others). Therefore, clinical symptomatology of Opitz C syndrome can overlap other similar minority pathologies (Kleefstra, Kabuki, Bohring-Opitz syndromes, etc.).
However, despite sharing several clinical manifestations, “this disease does not show a genetic base shared by the affected people, and its hereditary transmission model is still unknown”, note the authors, also members of the Institute of Biomedicine of the University of Barcelona (IBUB) and the Research Institute Sant Joan de Déu (IRSJD).
Since 2007, several genes have been related to this pathology, which is hard to diagnose due its wide clinical pattern (for instance, ASXL1, CD96, ASXL3 and MAGEL2). In this context, research lines of the Group on Human Molecular Genetics (UB-CIBERER-HSJD) –in which Raquel Rabionet and Laura Castilla take part too- are broadening the knowledge of the genetic basis of this pathology which so far does not have any chance of receiving treatment, prenatal diagnosis nor genetic counselling.
“In these ultra-rare diseases, the application of new massive sequencing technologies is a determining factor regarding the molecular diagnosis for patients and therefore, to progress in the exploration of therapeutic applications”, comment the authors. 
In some cases, affected patients can receive an early diagnose –incomplete and too general- that makes any therapeutic intervention difficult. This is the case of a recent research study in which the Group on Human Molecular Genetics participated, and found two mutations in the PIGT gen in a patient who had initially been diagnosed Opitz C syndrome.
This study could profile a precise molecular diagnose of the causes of the real pathology –with a few cases gathered in the scientific bibliography- affecting the patient, considered as Opitz C at the beginning.
The international scientific collaboration has been determining in the genetic diagnosis of other cases with severe affectations in the neuro-development that had been considered to be Opitz C syndrome. In particular, the UB team has participated in the identification of new genetic mutations associated with DPH1 syndrome –a minority disease with a low prevalence among population- in patients of two different families from Malta and Yemen.
University of Barcelona https://tinyurl.com/yxdrze2f

Researchers at the University of Helsinki have developed a new mouse model of congenital anomalies of kidney and urinary tract and disease progression.
About one in every 100 babies is born with some kind of developmental anomaly in the urogenital tract. In most cases abnormalities are mild, but sometimes life-long and even life-threatening disease develops.
Infertility is another important aspect that associates with urogenital anomalies. Therefore understanding how those features occur is instrumental in developing future treatments.
To date, diseases which scientist understand the best are those caused by mutations in the proteins involved. However, in many diseases such mutations are not found, and the disease is “idiopathic” or referred as without a known cause, and maybe triggered by e.g. environmental factors.
Classically scientists have studied such cases by injecting many copies of the gene of interest into fertilized egg of an experimental animal. However, the major problem with this technique is that scientist have almost no control over where in the genome the gene lands, and what cell types start to produce the encoded protein.
By employing an unconventional genome engineering trick that increased glial cell line-derived neurotrophic factor (GDNF) production 3-6 times, scientists revealed that ureter, which allows urine produced by kidneys to enter bladder, length is regulated by GDNF levels, and that tubes connecting testicles to reproductive organs are misplaced when there is too much GDNF, resulting in infertility in males.
GDNF is a secreted protein which signals growth and survival for many types of cells. In females, too much GDNF resulted in imperforated vagina or lack of vaginal opening, resulting in infertility.
The researchers were able to trace some of those defects back to altered stem cell behaviour in the developing urogenital block and identified some signalling pathways involved. Collectively these findings provide new information on altered stem cell behaviour in the developing kidney.
University of Helsinki https://tinyurl.com/y6oag6xr

The Messe Düsseldorf Group is re-focusing their activities on the health market in Brazil and will organize the first MEDICAL FAIR BRASIL from May 5 – 8, 2020 at  the Expo Center Norte in Sao Paulo. It will be an annual event. MEDICAL FAIR BRASIL is supported by and staged in cooperation with the Brazilian medical technology manufacturers association ABIMO. Messe Düsseldorf’s foreign representation in Brazil is responsible for organizing the event.
 “With Messe Düsseldorf and ABIMO, two strong partners are working on the mutual goal of establishing MEDICAL FAIR BRASIL as Brazil’s leading event platform. Using our global network of 75 foreign representations and 12 affiliated companies or subsidiaries, we promote the event in over 130 countries and contribute our valuable experience in organizing medical trade fairs,” explained Wolfram Diener, Managing Director of Messe Düsseldorf. 
The Messe Düsseldorf Group has been organizing successful healthcare events around the globe for many years. In 2017, these healthcare events were grouped under the new umbrella brand “MEDICAlliance” in order to be marketed as a unit worldwide. In addition to the world-leading trade fair MEDICA and the internationally leading supplier trade fair COMPAMED (held concurrently in Düsseldorf, Germany) , the alliance includes MEDICAL FAIR INDIA (Mumbai/New Delhi), MEDICAL FAIR ASIA (Singapore), MEDICAL FAIR THAILAND (Bangkok) and MEDICAL FAIR CHINA (Suzhou).  
For the South American market, MEDICAL FAIR BRASIL is now being added as a further member of MEDICAlliance. Meditech in Colombia (Bogota) already successfully represents MEDICAlliance in South America. 
 “We know the market and are already well connected in the industry in Brazil thanks to our previous commitments. For us, it is strategically important to have a strong presence on this market with MEDICAlliance. Positive growth prospects and Brazilian business partners, who in our experience are reliable and sincere, are the ideal foundation on which to build a top business,” said Horst Giesen, Global Portfolio Director Health & Medical Technologies at Messe Düsseldorf. The Brazilian market’s volume for medical technology is approximately $ 5.7 billion (source: gtai) and the healthcare industry is among the industries with the highest growth rates in the country.
Paulo Fraccaro, Superintendent at ABIMO, is also looking forward to the cooperation for MEDICAL FAIR BRASIL: “The cooperation between ABIMO and Messe Düsseldorf will bring forth a strong alliance. Together, we are creating the ideal platform for companies to present their innovations and meet relevant decision-makers – both those active in health care as well as manufacturers and distributors in other countries.”
Key exhibit categories at MEDICAL FAIR BRASIL are: Medical technology / medical products, laboratory technology and diagnostics, health IT, physiotherapy and orthopedic technology as well as medical services. The trade fair primarily addresses physicians, medical professionals and managers of health institutions as well as health industry service suppliers and experts in the fields of science, politics, trade and industry.
http://www.medicalfair-brasil.com
www.mdna.com

Brain tumours vary widely in how they respond to treatment. However, early assessment of therapy response is essential in order to choose the best possible treatment for the patient. Scientists from the German Cancer Research Center (DKFZ) have now been able to show in a study using non-invasive high-resolution 7-Tesla MRI scans that the protein content of tumours correlates with response to treatment and survival.
Glioma is the most common type of brain tumour in adults. This non-neuronal type of tumour arises from glial cells – the cells that support and nourish neurons. The term “glioma” comprises a whole number of brain tumours that vary widely in grade. Some are benign and can be removed completely by surgery. In others, chemotherapy and/or radiotherapy is necessary in addition to surgical removal.
In about half of all glioma patients, an extremely malignant form of the tumour is diagnosed. “Malignant gliomas respond very diversely to treatment,” says Daniel Paech from the German Cancer Research Center (DKFZ). “In some of the cases, postoperative radiotherapy and chemotherapy are more effective than in others. And whether the tumour has in fact responded to treatment cannot be told before the first follow-up care exam six weeks after treatment ends.”
In order to choose the best possible treatment strategy for the patient right from the start, it would be advantageous to be able to assess a brain tumour’s aggressiveness and future response to therapy already at the time of diagnosis.
In their present study, Paech and his colleagues from Heidelberg University Hospital have now shown that this look into the future, which is so critical for individual therapy planning for glioma patients, in fact seems possible. They used an extremely powerful 7-Tesla MRI scanner to image proteins in the brains of glioma patients. To do so, they exploited the so-called CEST effect, a chemical exchange effect between the proteins and free water in tissue. No contrast agents are needed for this examination.
Paech explains: “Cancer cells grow in an uncontrolled manner, producing proteins along the way in an equally uncontrolled manner. Our study shows that the protein signal measured in the MRI image is a biomarker that is associated with survival as well as with treatment response of patients: The stronger the protein signal, the poorer the prognosis.”
If the MRI image at diagnosis shows that the tumour has a tendency to grow rapidly, it would be possible to choose, depending on other factors such as the patient’s age, a more intensive therapy from the start in order to improve the patient’s chances.
7-Tesla MRI machines of the type that was used for the present study are only available at a small number of research locations. Fewer than 100 of these scanners, which weigh 25 tons and cost over €10 million, are running worldwide. They generate a magnetic field with a strength of 7 Tesla. Conventional MRI scanners used in hospitals have a strength of 1.5 or 3 Tesla. Paech and his DKFZ colleagues from the groups led by Heinz-Peter Schlemmer, Mark Ladd and Peter Bachert are therefore already planning the next study. In a prospective study, they plan to examine in a larger patient group whether protein measurement is also possible using a less powerful MRI scanner. “If a 3-Tesla MRI machine can equally measure the elevated protein expression in the tumour, then our results may be used broadly to enhance diagnostics in glioma patients, because 3-Tesla machines are available in many hospitals,” says Paech.
Relaxation-compensated amide proton transfer (APT) MRI signal intensity is associated with survival and progression in high-grade glioma patients
The German Cancer Research Center https://tinyurl.com/yxw3vvem