Posts by: Margarida Maia PhD

Pompe Disease News

Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset Pompe disease patients who are using enzyme replacement therapy, a study found. ... Read more

May 17, 2022May 17, 2022

Protein Revived in CF-mutated Cells Using Lab-edited Transfer RNA

Cystic Fibrosis News Today

Lab-edited transfer RNA (tRNA) molecules revived the production of a protein that’s lost or faulty in cystic fibrosis patients’ cells that carry mutations in the protein’s coding gene, a study ... Read more

May 13, 2022May 13, 2022

Three Cases of Severe Lung Involvement in Children With JEB

Epidermolysis Bullosa News

Three small children with junctional epidermolysis bullosa (JEB) developed extensive damage to the airways and lungs, which led to breathing problems that proved fatal, according to a U.S. report. The ... Read more

May 11, 2022May 11, 2022

Delay in aHUS Diagnosis Linked to Woman’s Previous Cancer

aHUS News

A diagnosis of atypical hemolytic uremic syndrome (aHUS) was delayed in a woman with a history of advanced, but treated, cancer due to several confounding factors partly related to that cancer, according ... Read more

May 11, 2022May 11, 2022

New Gene Mutation Seen in Woman With Muscle Weakness Due to CMT2

Charcot-Marie-Tooth News

A new genetic mutation was identified in an Italian woman with severe muscle wasting in the arms and legs due to Charcot-Marie-Tooth disease type 2 (CMT2). The finding is part ... Read more

May 11, 2022May 11, 2022

Blood Test for Factor IX Now Available in Canada, Other Countries

Hemophilia News Today

A blood test to determine the amount of active factor IX — the clotting factor that is missing in hemophilia B — in patients ages 2 and older is now ... Read more

May 10, 2022May 10, 2022

Over One-third of Patients With Autoantibodies at Risk for PH: Study

Scleroderma News

People with systemic scleroderma (SSc) who have certain autoantibodies are at increased risk of developing pulmonary hypertension, or high pressure in the blood vessels of the lungs, according to a ... Read more

May 10, 2022May 10, 2022

MJFF Grant Moves Potential Oral Therapy, ASN51, Into Early Testing

Parkinson's News Today

A research grant from The Michael J. Fox Foundation (MJFF) will allow Asceneuron to advance work on ASN51, a potential oral therapy for Parkinson’s disease. The unspecified financial award, the foundation’s second ... Read more

May 9, 2022May 9, 2022

Gut Microbiota May Be Linked to Inflammation in CTEPH Patients

Pulmonary Hypertension News

The gut microbiota of patients with chronic thromboembolic pulmonary hypertension (CTEPH) differs from that of healthy individuals, and this perhaps explains why there also is more inflammation, a Japanese study ... Read more

May 9, 2022May 9, 2022

Past Childhood Abuse Linked to Increased MS Risk in Norwegian Study

Multiple Sclerosis News Today

Women who were exposed to sexual or emotional abuse as children may be at an increased risk of developing multiple sclerosis (MS) later in life, according to a large study in Norway. ... Read more

May 3, 2022May 4, 2022

GALACTIC-1 Trial of Inhaled IPF Therapy Hits Enrollment Target

Pulmonary Fibrosis News

Less than 14 months after stopping its GALACTIC-1 study for certain patients due to safety concerns, Galecto has hit its enrollment target for the Phase 2b trial — now under ... Read more

May 2, 2022May 2, 2022

Preventive Takhzyro Now Available in Québec Following Takeda Bid Win

Angioedema News

Takeda Canada has won a bid making it Héma-Québec’s sole source of Takhzyro (lanadelumab) — an approved under-the-skin treatment to prevent attacks of hereditary angioedema (HAE) — through at least ... Read more

May 2, 2022May 2, 2022

CF-370 Reduces Hard-to-treat Bacteria in Rabbit Model

Cystic Fibrosis News Today

CF-370, an expeimental therapy by ContraFect, reduces the number of hard-to-treat Pseudomonas aeruginosa bacteria in a rabbit model of pneumonia, an infection that inflames the lungs. P. aeruginosa, the most ... Read more

April 27, 2022April 27, 2022

Rare ACTH-producing Prostate Tumor Leads to Cushing’s Diagnosis

Cushing's Disease News

A man developed Cushing’s syndrome that was caused by a tumor in his prostate gland, according to a report from Singapore. He did not present the usual symptoms of Cushing’s, ... Read more

April 26, 2022April 26, 2022

Protein Linked to Inflammation May Be Promising New Treatment Target

Scleroderma News

A protein that triggers a form of cell death driven by inflammation is present at high levels in the skin of patients with scleroderma, and this suggests it may play ... Read more