The core care team for TK2d may include a neuromuscular neurologist, pulmonologist, nutritionist, physical therapist, and orthopedist. A pulmonologist monitors and manages respiratory complications.

Another patient who has alpha-1 antitrypsin deficiency (AATD) recently spoke up in our support group. She reports that many people do not believe her when she says she has this condition. I can relate ...

Pediatric-onset of GPA is a rare occurrence, with an incidence rate of the disease at 1.8 per 1,000,000 population in US children aged 18 years or younger. In patients with pediatric-onset ...

At 18 months, progression-free survival was 96%, and overall survival was 96.8%, with no patients requiring subsequent therapy. The measurable residual disease (MRD)-guided combination of zanubrutinib ...

Serum anti-C5aR antibody concentrations are associated with major relapse at 12 months in new-onset and relapsing EGPA. Among individuals with eosinophilic granulomatosis with polyangiitis (EGPA), ...

Correlating FLIO findings with OCT might provide qualitative and quantitative data on the structural and metabolic state of the retina in various diseases. Fluorescence lifetime imaging ophthalmoscopy ...

Although the 3 mental health measures (anxiety, depression, and anger) improved, they increased less than the physical and social scores. Many aspects of social and physical health improve in patients ...

Overall, 42.9% (9 of 21) of the participants reported experiencing GPP-associated symptoms on a daily basis. Many patients with generalized pustular psoriasis (GPP) report experiencing chronic ...

Patients with MPO-ANCA+ spinal hypertrophic pachymeningitis had worsening spinal symptoms, lesions in the dura matter, more serious neurological symptoms, and a frequent need for emergency surgery.

Standardizing testing protocols can improve the application of the approach in the clinic and in research. Grasp function evaluation with dynamometers in patients with chronic inflammatory ...

Treatment with IL-36 receptor inhibitors markedly reduced MMP9 levels, correlating with clinical improvement in patients with GPP. Matrix metalloproteinase 9 (MMP9) was significantly elevated in ...

Genetic testing showed that the patient had a heterozygous missense mutation (c.320G > A, p.G107D) in the PMP22 gene causing a classic demyelinating Charcot-Marie-Tooth phenotype. Researchers from ...