Prevalence of cardiovascular implantable electronic devices in children with type 1 myotonic dystrophy.

Introduction/aims: Type 1 myotonic dystrophy (DM1) is a neuromuscular disorder of multiple organ systems with important electrophysiologic (EP) manifestations, leading to a cumulative incidence of sudden death of 6.6%. Due to genetic anticipation, there is a pediatric subset of this patient population.

Safe Transition to Pembrolizumab following Ipilimumab-Induced Guillain-Barré Syndrome: A Case Report and Review of the Literature.

Background: Immune checkpoint inhibitors are novel therapies with indications for treating several solid cancers. They are associated with immune-related adverse events, which are generally well tolerated. Though rare, severe side effects may be life-threatening.

variants in cause sporadic early-onset progressive sensorimotor neuropathy.

Background: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in have been associated with autosomal-recessive hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). We identified heterozygous de novo variants in in three unrelated patients with intermediate CMT.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Purpose: To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA), in treatment-naïve cross-reactive immunologic material (CRIM)-positive infantile-onset Pompe disease (IOPD) patients.

Methods: Newly diagnosed IOPD patients received subcutaneous or oral 0.4 mg/kg TLD-MTX for 3 cycles (3 doses/cycle) with the first 3 rhGAA infusions.

Diaphragm pacing in amyotrophic lateral sclerosis: a literature review.

Amyotrophic lateral sclerosis (ALS) remains a rapidly progressive fatal degenerative disease of motor neurons for which there are few interventions to slow disease progression or improve quality of life. A diaphragm pacing system was approved by the U.S.

Radial nerve palsy in Guillain-Barré syndrome.

The risk of focal compression neuropathy in the setting of an underlying inflammatory polyneuropathy is unknown. A man developed ascending weakness and severe sensory ataxia and could not walk. Electromyography was diagnostic of Guillain-Barré syndrome.

Does this patient have myasthenia gravis?

Context: Clinicians must be able to diagnose myasthenia gravis, since delays in establishing the diagnosis may put patients at risk for complications from this treatable disease.

Objective: To determine if items in the history and examination or results of simple tests change the likelihood of myasthenia gravis as a diagnosis.

Data Sources: MEDLINE search of English-language articles (January 1966-January 2005) using the terms myasthenia gravis, diagnosis, and test, and a search of bibliographies of retrieved articles.