No abstract

We examined the efficacy of 2-year enzyme replacement therapy (ERT) using recombinant human α-glucosidase (GAA; Myozyme®) in five long-term ventilator-dependent adults and aged patients with advanced, late-onset glycogen storage disease type II (GSDII, also known as Pompe disease). Although all patients had advanced respiratory failure and were ventilator-dependent for more than 6 years, four showed obvious improvements in muscle strength, pulmonary function, and activities of daily living after ERT. Improvement in each parameter was more prominent in the first year than in the second year. Values in the second year were still significantly better than those at study entry and indicate stabilization in the clinical status of all patients. These results suggest that ERT continues to be effective in the second year of treatment even in patients suffering from advanced late-onset GSDII disease with severe respiratory failure.

BackgroundWe developed, and examined the reliability and validity of, a Japanese version of the Dysphagia Handicap Index (DHI; DHI-J), which is a self-reported measure to assess the quality of life (QOL) of individuals with dysphagia.Participants and methodsThe DHI-J was developed via the back-translation method: the DHI was translated into Japanese and then translated back into English by a native English speaker. The back translation was discussed with and approved by the DHI’s lead author. A total of 229 patients (119 males, 110 females; median age: 66 years) who underwent videofluorography at our hospital between January and December 2013 and 65 controls (23 males, 42 females; median age: 44 years) were included in the study. All the subjects completed the DHI-J and self-reported their dysphagia severity. Twenty-three patients repeated the procedure 1 week later. Patients’ swallowing function was classified as “normal”, “moderately impaired”, or “severely impaired”, and the DHI-J total scores were compared between the severity groups.ResultsThe internal consistency of the DHI-J was high (Cronbach’s α=0.95), as was the test–retest reliability of the 23 patients who answered the questionnaire twice (intraclass correlation coefficient =0.98, P<0.01). The DHI-J total score and its three subscale scores were significantly higher among the patients than among controls. A significant correlation (ρ=0.85) was observed between the DHI-J total score and self-reported dysphagia severity score. Regarding the comparison of DHI-J scores by severity groups, the DHI-J total scores significantly differed between the normal and moderately impaired groups, and the normal and severely impaired groups. However, the moderately and severely impaired groups showed no significant difference in scores.ConclusionThe DHI-J is a reliable and valid questionnaire for assessing the QOL of patients with dysphagia. However, we did not survey patients with cerebrovascular diseases; thus, the questionnaire must be validated for that patient group.

We report a 17-year-old girl with short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, sensorineural hearing loss, and cardiac conduction defect (Kearns-Sayre syndrome). A large-scale deletion (6741 base pairs) in mitochondrial DNA was found in her muscle specimen. She also had insulin-dependent diabetes mellitus (IDDM). On admission, her plasma glucose level was elevated at 31.0mmol/l with mild ketoacidosis, and haemoglobinA1c elevated at 16.5%. After improvement of diabetic ketoacidosis, she was placed on insulin 24-30 units/day despite her small body weight of 25 kg. There was reduced excretion of urinary C-peptide at 3.97 nmol/day. In addition, she had idiopathic hypoparathyroidism with a serum calcium level of 2.15 mmol/l, phosphate 1.7 mmol/l, and intact PTH below 10 ng/l. Human leucocyte associated antigen typing showed A24, A26; B54, B61; CW1, CW3; DR8, DR14; DQ1 and DQ3, suggesting that the presence of HLA-A24 and CW3 antigen contributed to the association of IDDM and hypoparathyroidism, similar to Japanese patients with polyglandular autoimmune syndrome, complicated by hypoparathyroidism and IDDM. We suggest that a genetic linkage, as well as mitochondrial dysfunction, may be responsible for the association of the two disease states. This is an extremely rare case of Kearns-Sayre syndrome, presenting in association with IDDM and idiopathic hypoparathyroidism.