Objective. Juvenile Idiopathic Arthritis (JIA) is the most common chronic pediatric rheumatic disease. It is recognized that only reliance on clinical signs of disease outcome is inadequate for understanding the impact of illness and its treatment on child's life and functioning. There is a need for a multidisciplinary and holistic approach to children with arthritis which considers both physical and emotional functioning. This study investigated the psychosocial functioning of children and adolescent with JIA and the disease-related changes in their family. Methods. The sample consisted of 33 hospitalized patients, aged 6–16 years. Both parents and the children were given a number of questionnaire to fill out. Clinical information was extracted from the interviews. Results. Self-reported psychological functioning (depression, anxiety, and behavior) was not different from the normal population; however significant psychological suffering was detected by the clinical interview. Conclusions. Children and adolescents with JIA do not show overt psychopathology by structured assessment; nevertheless a more clinically oriented holistic approach confirms JIA as a disrupting event causing relevant changes in the quality of life of the affected families.

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McArdle's disease causes limitation in exercise capacity as well as disability, the severity of which has been associated with the angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) haplotype-patients with the genotype associated with higher ACE activity show the most severe phenotype. Modulation of ACE activity through the use of inhibitors may thus positively affect disease expression. In a double-blind, randomized, placebo-controlled trial, we assessed the efficacy of an ACE inhibitor (2.5 mg ramipril) in 8 patients with McArdle's disease. End-points were changes in parameters of exercise physiology (cycloergometer and muscle 31P-magnetic resonance spectroscopy), quality of life (QoL) according to the Short Form 36 (SF-36), and disability according to the World Health Organization-Disability Assessment Scale II (WHO-DAS II). Patients had lower QoL and higher disability than controls. Measures of exercise physiology were not changed by ramipril in the whole group, but treatment induced higher peak VO2 (P = 0.017) in ACE D/D patients, yet not in I/D patients. Treatment significantly improved disability (P < 0.05). McArdle's disease is a disabling condition affecting patients' QoL. Treatment with ramipril improves disability and modifies exercise physiology only in D/D patients, raising the possibility of a differential haplotype-linked sensitivity to the treatment.

Cellular pH control is important in muscle physiology, and for interpretation of (31)P magnetic resonance spectroscopy (MRS) data. Cellular acidification in exercise results from coupled glycolytic ATP production mitigated by cytosolic buffering, 'consumption' of H(+) by phosphocreatine (PCr) breakdown, and membrane transport processes. Ex vivo methods for cytosolic buffer capacity are vulnerable to artefact, and MRS methods often require assumptions. (31)P MRS of early exercise, when pH increases unopposed by glycolysis, is conceptually simple, but limited in normal muscle by time resolution and signal-to-noise. A therapeutic trial (Martinuzzi A et al. Musc Nerve 37: 350-357, 2007) in McArdle's disease (glycogen phosphorylase deficiency), where pH does not decrease with exercise, offered the opportunity to test (31)P MRS data obtained throughout incremental plantar flexion exercise and recovery in ten McArdle's patients against the simple model of cellular pH control. Changes in pH, [Pi] and [PCr] throughout exercise and recovery were quantitatively consistent with mean +/- SEM buffer capacity of 10 +/- 1 mM/(pH unit), which was not significantly different from the control subjects under the initial-exercise conditions where the comparison could be made. The simple model of cellular acid-base balance therefore gives an adequate account of cellular pH changes during both exercise and recovery in McArdle's disease.