Trouble at the junction: When myopathy and myasthenia overlap.

Although myopathies and neuromuscular junction disorders are typically distinct, their coexistence has been reported in several inherited and acquired conditions. Affected individuals have variable clinical phenotypes but typically display both a decrement on repetitive nerve stimulation and myopathic findings on muscle biopsy. Inherited causes include myopathies related to mutations in BIN1, DES, DNM2, GMPPB, MTM1, or PLEC and congenital myasthenic syndromes due to mutations in ALG2, ALG14, COL13A1, DOK7, DPAGT1, or GFPT1.

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.

Objective: To investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice.

Methods: We searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed.

Neuromuscular Complications of Programmed Cell Death-1 (PD-1) Inhibitors.

Purpose Of Review: In recent years, immune checkpoint inhibitors have been increasingly used in patients with metastatic cancers with favorable oncological outcomes; however, there have also been increasing number of cancer survivors who have developed immune-related adverse events. Little is known about PD-1 inhibitor-associated neuromuscular complications.

Recent Findings: Neuromuscular disorders are the most common neurological complication reported in PD-1 inhibitor-treated patients.

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.

We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val).

PD-1 Inhibitor-associated Myopathies: Emerging Immune-mediated Myopathies.

Programmed death-1 (PD-1) inhibitors are increasingly used in cancer immunotherapy. Various immune-related adverse events are reported, including infrequent individual case reports of myositis or rhabdomyolysis. The frequency and diagnostic spectrum of immune-related adverse events affecting skeletal muscle in PD-1 inhibitor-treated patients are unknown.

Neurological Complications Associated With Anti-Programmed Death 1 (PD-1) Antibodies.

Importance: Neurological complications are an increasingly recognized consequence of the use of anti-programmed death 1 (PD-1) antibodies in the treatment of solid-organ tumors, with an estimated frequency of 4.2%. To date, the clinical spectrum and optimum treatment approach are not established.

Rupture of thin films with resonant substrate patterning.

We study the stability and rupture of thin liquid films on patterned substrates. It is shown that striped patterning on a length scale comparable to that of the spinodal instability leads to a resonance effect and an imperfect bifurcation of equilibrium film shapes. Weakly nonlinear analysis gives predictions for film shapes, stability, growth rates, and rupture times, which are confirmed by numerical solution of the thin-film equation.