Severe Dizziness and Hypereosinophilia: Coincidence or Complication? A Case Report.

Hypereosinophilia is a common issue in medicine. One rare cause is myeloproliferative neoplasm with PDGFRA rearrangement. In these patients, the gold standard for therapy is low-dose imatinib.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Objective: Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size.

Objective: To identify genetic variants in titin in a cohort of patients with muscle disorders.

Enhancing clinical decisions about care through a pre-consultation sheet that captures patients' views on their health conditions and treatments: A qualitative study in the field of chronic pain.

Objective: This study examined whether and how a pre-consultation sheet (PCS) that captures patients' views on their condition and treatments can facilitate doctors in identifying targets for medical advice.

Methods: A PCS in the form of a list of questions was developed and implemented in chronic pain consultations. Its value was examined through video-recordings and post-consultation interviews with doctors and patients.

Maintenance of Wakefulness Test scores and driving performance in sleep disorder patients and controls.

Objective: Sleepiness at the wheel is a risk factor for traffic accidents. Past studies have demonstrated the validity of the Maintenance of Wakefulness Test (MWT) scores as a predictor of driving impairment in untreated patients with obstructive sleep apnea syndrome (OSAS), but there is limited information on the validity of the maintenance of wakefulness test by MWT in predicting driving impairment in patients with hypersomnias of central origin (narcolepsy or idiopathic hypersomnia). The aim of this study was to compare the MWT scores with driving performance in sleep disorder patients and controls.

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy.

Objective: To test the efficacy and tolerability of clenbuterol in patients with spinal and bulbar muscular atrophy (SBMA).

Methods: Twenty patients with a diagnosis of SBMA were given oral clenbuterol (0.04 mg/d) for 12 months.

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.

Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane. We describe 12 novel mutations: c.1606G>C (p.

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Although mutations in mitochondrial tRNAs constitute the most common mtDNA defect, the presence of pathological variants in mitochondrial tRNA(Asn) is extremely rare. We were able to identify a novel mtDNA tRNA(Asn) gene pathogenic mutation associated with a myopathic phenotype and a previously unreported respiratory impairment. Our proband is an adult woman with ophthalmoparesis and respiratory impairment.