Posts by: Catarina Silva, MSc

Catarina Silva, MSc

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.

July 1, 2019

Patients on Enzyme Replacement Therapy May Be Prone to Psychiatric Disorders, Study Suggests

News

Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according to an Egyptian team of researchers. Their study, “Psychiatric manifestations in Egyptian Gaucher patients on ... Read more

April 15, 2019

Case Report Raises Awareness on Multiple Myeloma Risk in Gaucher Disease Patients

News

A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, ... Read more

November 6, 2018

Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports

News

A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, ... Read more

October 30, 2018

Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

News

Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. ... Read more

October 23, 2018

Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

News

Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. ... Read more

October 18, 2018

‘Lantern Project’ Shines Light on Genetic Testing for Rare Disease Diagnosis

News

Sanofi Genzyme has partnered with PerkinElmer Genomics to launch a free genetic testing program called The Lantern Project. The initiative is directed at patients in the United States who ... Read more

September 20, 2018

Oral Medication Linked to Better Quality of Life Over Infusion Therapy in Gaucher Disease, Study Suggests

News

When it comes to treating Gaucher disease, oral medication is associated with a better quality of life, compared with infusion therapy, an interview-based study suggests. Led by researchers at ... Read more

May 15, 2018

Gaucher Type 1 Children Have White Matter Changes in Brain Before Symptoms Appear, Study Shows

News

Children with type 1 Gaucher disease have deterioration of white matter in their brains before they show any clinical symptoms, researchers at China’s Capital Medical University found. According to the ... Read more

April 24, 2018June 8, 2018

Early Diagnosis of Gaucher in At-risk Children Possible Using Dried Blood Spots, Study Reports

News

Looking at the activity of the Gaucher-associated enzyme — beta glucocerebrosidase (GBA) — using dried blood spot samples allows for an early diagnosis of likely Gaucher disease in children ... Read more

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