FGF-21 as a Potential Biomarker for Mitochondrial Diseases.

The diagnosis of mitochondrial diseases is still challenging due to clinical and genetical heterogeneity. The development of advanced technologies including Whole-Exome- Sequencing (WES) and Whole-Genome-Sequencing (WGS) has led to improvements in genetic diagnosis. However, a reliable biomarker in serum could enhance and ease the diagnosis and indeed reduce the need for muscle biopsy. Several studies suggest Fibroblast growth factor 21 (FGF-21) as a biomarker for diagnosis in mitochondrial disorders. It is known, that in patients with mitochondrial disorders, the expression of FGF-21 gets elevated in an effort to counteract the underlying metabolic deficiency. The growth and differentiation factor 15 (GDF-15) has been described as a potential biomarker for mitochondrial diseases, too. In the present review, a literature research, using PubMed database about the reliability of FGF-21 as a biomarker for mitochondrial disorders and its comparison with GDF-15 has been performed.

"Thoracic migraine" as a new manifestation of migraine: Case report.

Background and objectives Abdominal pain is a well-known headache-associated symptom in migraine in children, but rarely in adults. We describe a case of a female patient with typical accompanying migraine symptoms without headache but with thoracic pain. Case report The present case of a 41 year-old-woman shows recurrent attacks with thoracic pain and typical accompanying migraine symptoms but without headache. Symptoms resolved upon treatment with triptans and beta blockers. Discussion This case might be interpreted as "thoracic migraine", and extends the spectrum of migraine forms. Conclusion In patients with facial pain secondary to lung cancer, an anatomical connection between the vagal nerve, the nucleus tractus solitarii, the jugular ganglion and trigeminal system has been suggested. The present case might be an analogy to this explanation.

Distal myopathies: from clinical classification to molecular understanding.

The distal myopathies are a group of rare diseases that in the past were primarily classified by eponyms. Classification criteria were the beginning of the disease, the distribution of the muscle weakness, the course of the disease, the prognosis, and histological changes in the muscle biopsy. Advances of molecular genetics have identified various genes and mutations in many of the clinical phenotypes. This led to modifications and extensions of the existing clinical classification. Our own study on 42 patients with distal myopathy including 15 patients from six families with matrin-3 mutation suggests that in distal myopathies (1) there seem to be no monogenetic classical phenotypes; (2) there are phenotypes with different genotypes and (3) phenotypes with genotypes that are usually associated with other than distal phenotypes. Some of these phenotypes could not be classified according to the traditional clinical classification. In matrin-3 associated myopathy most but not all patients had predominant distal weakness. Also in the initial families distal weakness myopathy was associated with vocal cord and pharyngeal weakness, this was observed in half of our patients. Three of 15 patients met the criteria of Welander-phenotype. The recent classification by Udd distinguishes major groups of myopathies based on age of onset, mode of inheritance, and morphological changes in muscle biopsy. In many but not all subforms of these major groups the genotype has been established so far.