Comparison of 3 instruments to measure muscle strength in children: A prospective study.

Aim: To establish which instrument is the most valid and reliable measure of muscle strength in children aged 4-11 years and can improve the diagnostic procedure in children with suspected myopathy to spare more of them from muscle biopsy.

Methods: In a prospective study over a 2 year period, 22 patients aged 4-11 years were recruited. They had all been referred to our specialist centre on the suspicion of myopathy.

Changes in cerebral oxygenation and hemodynamics during cranial ultrasound in preterm infants.

Objectives: To evaluate whether application of a transducer on the anterior fontanelle during cranial ultrasound (US) examination effects cerebral hemodynamics and oxygenation in preterm infants. STUDY DESIGN*: During cranial US examination, changes in cerebral blood oxygenation (cHbD) and cerebral blood volume (CBV) were assessed using near infrared spectrophotometry (NIRS) in 76 infants (GA 30.7 (4.

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Objective: The mitochondrial energy-generating system (MEGS) encompasses the mitochondrial enzymatic reactions from oxidation of pyruvate to the export of adenosine triphosphate. It is investigated in intact muscle mitochondria by measuring the pyruvate oxidation and adenosine triphosphate production rates, which we refer to as the "MEGS capacity." Currently, little is known about MEGS pathology in patients with mutations in the mitochondrial DNA.

Cerebral hemodynamics and oxygenation after serial CSF drainage in infants with PHVD.

The aim of our study was to assess consecutive changes in cerebral oxygenation and hemodynamics after serial cerebrospinal fluid (CSF) drainage from a subcutaneous ventricular catheter reservoir (SVCR) in infants with PHVD. Infants with PHVD were studied during CSF drainage from a SVCR on the day of SVCR placement, half a week and one week after SVCR placement. Changes in cHbD and CBV were assessed using near infrared spectrophotometry.

Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.

Background: A reliable and sensitive complex I assay is an essential tool for the diagnosis of mitochondrial disorders, but current spectrophotometric assays suffer from low sensitivity, low specificity, or both. This deficiency is mainly due to the poor solubility of coenzyme-Q analogs and reaction mixture turbidity caused by the relatively high concentrations of tissue extract that are often required to measure complex I.

Methods: We developed a new spectrophotometric assay to measure complex I in mitochondrial fractions and applied it to muscle and cultured fibroblasts.

Validity and reproducibility of the Jamar dynamometer in children aged 4-11 years.

Purpose: Validity and reproducibility of the Jamar dynamometer were evaluated in children aged 4-11 years.

Method: Hand grip strength was measured on the dominant side and non-dominant side in 67 patients who had been referred to our specialist centre in the past 3 years because of suspected myopathy. All the patients had had muscle biopsy.

A new motor performance test in a prospective study on children with suspected myopathy.

In the development of a new diagnostic motor performance test to spare more children from painful muscle biopsy, seven functional items were used to measure muscle strength and muscle endurance in a prospective study on new patients. Over a 2-year period, 22 patients (12 males, 10 females; mean age 8y 1mo [SD 2y 6mo], range 4-11y) were recruited for the study. They had all been referred with suspected myopathy.

Validity and reproducibility of hand-held dynamometry in children aged 4-11 years.

Objective: To evaluate validity and reproducibility of hand-held dynamometry in 11 different muscle groups in children.

Design And Patients: Maximum isometric muscle strength was measured with a calibrated hand-held dynamometer in 61 patients aged 4-11 years who had been referred to our specialist centre in the past 3 years because of suspected myopathy. All the patients had had muscle biopsy.

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Background: Diagnosis of mitochondrial disorders usually requires a muscle biopsy to examine mitochondrial function. We describe our diagnostic procedure and results for 29 patients with mitochondrial disorders.

Methods: Muscle biopsies were from 43 healthy individuals and 29 patients with defects in one of the oxidative phosphorylation (OXPHOS) complexes, the pyruvate dehydrogenase complex (PDHc), or the adenine nucleotide translocator (ANT).

Validity and reproducibility of a new diagnostic motor performance test in children with suspected myopathy.

To spare more children from painful muscle biopsy, a new non-invasive diagnostic motor performance test is undergoing development. Fifteen functional items were used to measure muscle strength and muscle endurance in 68 patients (47 males, 21 females; mean age 7y 8mo, SD 2y 2mo; range 4 to 11y), who had been referred to our specialist centre in the past 3 years on suspicion of myopathy. All the patients had undergone muscle biopsy.

Ductus arteriosus with left-to-right shunt during venoarterial extracorporeal membrane oxygenation: effects on cerebral oxygenation and hemodynamics.

Objective: To investigate the effect on cerebral oxygenation and hemodynamics of a patent ductus arteriosus with left-to-right shunt during venoarterial extracorporeal membrane oxygenation in a lamb model.

Design: Prospective intervention study in animals.

Setting: Animal research laboratory of a university medical center.

Congenital conductive hearing loss in dyschondrosteosis.

Conductive hearing loss was detected in a boy with a previous diagnosis of dyschondrosteosis. Dyschondrosteosis is a rare inherited condition characterized by mesomelic dwarfism and Madelung's deformity. The syndrome can be caused by mutations in the SHOX gene, and in that case, the pattern of inheritance is pseudoautosomal dominant.