Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n=72). Data from the 72 cases in this study revealed that 44.4% of patients showed low CoQ concentrations in either their skeletal muscle or skin fibroblasts.

[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)].

Although treatment with alglucosidase alfa has helped improve the prognosis of patients with late-onset Pompe disease, both the development of the disease and the effectiveness of the treatment need to be monitored on a regular basis. This is the reason that has led a committee of Spanish experts to draw up a series of guidelines on how to follow up these patients. The committee proposes a model of follow-up tests for late-onset Pompe disease.

Reduction of pain thresholds in fibromyalgia after very low-intensity magnetic stimulation: a double-blinded, randomized placebo-controlled clinical trial.

Background: Exposure to electromagnetic fields has been reported to have analgesic and antinociceptive effects in several organisms.

Objective: To test the effect of very low-intensity transcranial magnetic stimulation on symptoms associated with fibromyalgia syndrome.

Methods: A double-blinded, placebo-controlled clinical trial was performed in the Sagrado Corazón Hospital, Seville, Spain.

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease.

Background And Purpose: MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disease most usually caused by point mutations in tRNA genes encoded by mitochondrial DNA (mtDNA). Approximately 80% of cases of MELAS syndrome are associated with a m.3243A > G mutation in the MT-TL1 gene, which encodes the mitochondrial tRNALeu (UUR).

Clinical guidelines for late-onset Pompe disease.

Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age.

Phenotypic variability in a Spanish family with a Caveolin-3 mutation.

Unlabelled: We report a Spanish family affected from a late onset, hand-involved and autosomal dominant distal myopathy associated to Caveolin-3 mutation. Signs of muscle hyperexcitability and hyperckemia were observed in the youngest relatives but not motor symptoms.

Patients And Methods: Neurological examination was performed in all members of the family.

Spanish family with myalgia and cramps syndrome.

A Spanish family is reported with dystrophinopathy of myalgia and cramps syndrome type. There were five affected males and three females, and also six asymptomatic carriers. Muscle biopsy showed a dystrophic pattern, but immunohistochemistry carried out with three anti-dystrophin antibodies was normal.

[Accuracy and validity of the lactic threshold compared to other noninvasive methods of measuring the anaerobic threshold in patients with metabolic myopathies].

Unlabelled: Poor correlation among the various methods for measuring anaerobic threshold (AT) has been reported, and some authors have even reported interobserver variability within a single method. It is unknown whether such variability exists in patients with metabolic myopathies (MM).

Objective: To determine intra- and interobserver variability in the measurement of AT in patients with MM and analyze the differences for each method used.